ALBERT — All Library Books, journals and Electronic Records Telegrafenberg

1

Digitale Medien

The case for matching MHC genes in human organ transplantation (1993)

Martin, Susan ; Dyer, Philip A.

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 210-213

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Following Medawar's demonstration of the genetic basis to organ transplant rejection, early pioneers of human clinical organ transplantation attempted to ensure success either by transplanting between genetically identical individuals or by suppressing the vigorous host immune response. Genetic ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1193-210a

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2

Digitale Medien

Mitotic errors in trisomy 21 (1993)

Sensi, Alberto ; Ricci, Nicola

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 215-215

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir —In the paper by Antonarkais et al (Nature Genet. 3,146–150; 1993), it seems that about 5% of trisomy 21 (Down syndrome) cases are due to mitotic errors, as deduced from segregation of DNA polymorphic markers. This analysis, however, cannot detect a substantial proportion of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1193-215a

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3

Digitale Medien

Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma (1993)

Galili, Naomi ; Davis, Richard J. ; Fredericks, William J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 230-235

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have examined the structure and expression of the products associated with the t(2;13)(q35;q14) translocation associated with alveolar rhabdomyosarcoma. The chromosome 13 gene (FKHR) is identified as a member of the fork head domain family of transcription factors characterized by a conserved ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1193-230

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4

Digitale Medien

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I (1993)

Chung, Ming-yi ; Ranum, Laura P.W. ; Duvick, Lisa A. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 254-258

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Spinocerebellar ataxia type I (SCAI) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG trinucleotide repeat on chromosome 6p. Normal alleles range from 19–36 repeats while SCA1 alleles contain 43–81 repeats. We now show that in 63% of paternal ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1193-254

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5

Digitale Medien

A mutation in CFTR produces different phenotypes depending on chromosomal background (1993)

Kiesewetter, S. ; Macek, M. ; Davis, C. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 274-278

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene but the association between mutation (genotype) and disease presentation (phenotype) is not straightforward. We have been investigating whether variants in the CFTR gene that alter splicing ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1193-274

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6

Digitale Medien

Corrigendum: Tissue specific expression of FMR–1 provides evidence for a functional role in fragile X syndrome (1993)

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 312-312

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] H. L. Hinds, C. T. Ashley, J. S. Sutcliffe, D. L. Nelson, S. T. Warren, D. E. Housman & M. Schalling Nature Genetics 3, 36–43 (1993) In this paper the legend to Fig. 2 was omitted. The following legend should have been published with Fig. 2. Fig. 2 In situ RNA hybridization with ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1193-312b

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7

Digitale Medien

Homozygosity mapping: familiarity breeds debility (1993)

Farrall, Martin

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 107-108

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] That they bred in and in, as might be shown, Marrying their cousins — nay, their aunts, and nieces, Which always spoils the breed, if it increases. — From Don Juan by Lord Byron (Written 1818–1823) The genetic map locations of the human disease genes causing the Friedreich's ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1093-107

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8

Digitale Medien

A novel metalloprotease/disintegrin–like gene at 17q21.3 is somatically rearranged in two primary breast cancers (1993)

Emi, Mitsuru ; Katagiri, Toyomasa ; Harada, Yousuke ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 151-157

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] From chromosomal region 17q21.3, where a tumour suppressor gene(s) for breast and ovarian cancers is thought to be present, we have isolated a novel gene from a cosmid clone that revealed somatic rearrangements in two breast cancers. The gene (MDC) encodes a 524–amino acid ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1093-151

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9

Digitale Medien

De novo expansion of a (CAG) n repeat in sporadic Huntington's disease (1993)

Myers, R. H. ; MacDonald, M. E. ; Koroshetz, W. J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 168-173

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Huntington's disease (HD) chromosomes contain an expanded unstable (CAG)n repeat in chromosome 4p16.3. We have examined nine families with potential de novo expression of the disease. With one exception, all of the affected individuals had 42 or more repeat units, well above the normal range. In ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1093-168

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10

Digitale Medien

Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2 (1993)

Pollak, Martin R. ; Wu Chou, Yah-Huei ; Cerda, James J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 201-204

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Alkaptonuria, the first human disorder recognized by Garrod as an inborn error of metabolism, is a rare recessive condition that darkens urine and causes a debilitating arthritis termed ochronosis. We have studied two families with consanguineous parents and four affected children in order to map ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1093-201

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11

Digitale Medien

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping (1993)

Ben Hamida, C. ; Doerflinger, N. ; Belal, S. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 195-200

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Friedreich ataxia and ataxia with selective vitamin E deficiency (AVED) share very similar clinical phenotypes. We have mapped the AVED locus to proximal 8q with only three large consanguinous Tunisian families, representing to our knowledge the first use of homozygosity mapping for primary linkage ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1093-195

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12

Digitale Medien

Linkage of Bardet–Biedl syndrome to chromosome 16q and evidence for non–allelic genetic heterogeneity (1993)

Kwitek-Black, Anne E. ; Carmi, Rivka ; Duyk, Geoffrey M. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 392-396

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Bardet–Biedl syndrome is an autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, polydactyly and hypogonadism. Other findings include hypertension, diabetes mellitus and renal and cardiovascular anomalies. We have performed a genome–wide ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1293-392

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13

Digitale Medien

Anticipation in spinocerebellar ataxia type 2 (1993)

Pulst, Stefan-M. ; Nechiporuk, Alex ; Starkman, Sid

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 8-10

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Spinocerebellar ataxias (SCAs) are characterized by a progressive degeneration of specific neurons of the cerebellar cortex, deep cerebellar nuclei, brain stem and spinal cord. Affected individuals suffer from severe ataxia, dysarthria and variable degrees of motor disturbance and neuropathy. The ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0993-8c

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14

Digitale Medien

Mapping the way ahead (1993)

Patterson, David

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 323-324

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] A major goal of genome mapping is the cloning of chromosomes as a collection of stable, easily manipulated, ordered, overlapping fragments that represent accurately the chromosome. Recently, Ilya Chumakov, Daniel Cohen and collaborators, at Généthon and elsewhere, reported1the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0893-323

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15

Digitale Medien

Corrigendum: Introduction and expression of the 400 kilobase amyloid precursor protein gene in transgenic mice (1993)

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 312-312

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] B. T. Lamb, S. S. Sisodia, A. M. Lawler, H. H. Slunt, C. A. Kitt, W. G. Kearns, P. L. Pearson, D. L. Price & J. D. Gearhart Nature Genetics 5, 22–30 (1993) An unfortunate transposition rendered the title of this paper incorrect. The correct title is that printed ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1193-312d

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16

Digitale Medien

Human and murine FMR-1 : alternative splicing and translational initiation downstream of the CGG–repeat (1993)

Ashley, Claude T. ; Sutcliffe, James S. ; Kunst, Catherine B. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 244-251

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Fragile X syndrome is associated with massive expansion of a CGG trinucleotjde repeat within the FMR–1 gene and transcriptional silencing of the gene due to abnormal methylation. Partial cDNA sequence of the human FMR–1 has been reported. We report here the isolation and ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0793-244

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17

Digitale Medien

Functional equivalence of human X– and Y–encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome (1993)

Watanabe, Minoru ; Zinn, Andrew R. ; Page, David C. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 268-271

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Several genes are found on both the human X and Y chromosomes in regions that do not recombine during male meiosis. In each case, nucleotide sequence analysis suggests that these X–Y gene pairs encode similar but nonidentical proteins. Here we show that the human Y– and X–encoded ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0793-268

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18

Digitale Medien

Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness (1993)

Prezant, Toni R. ; Agapian, John V. ; Bohlman, M. Charlotte ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 289-294

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Maternally transmitted non–syndromic deafness was described recently both in pedigrees with susceptibility to aminoglycoside ototoxicity and in a large Arab–Israeli pedigree. Because of the known action of aminoglycosides on bacterial ribosomes, we analysed the sequence of the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0793-289

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19

Digitale Medien

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11 (1993)

Carrier, L. ; Hengstenberg, C. ; Beckmann, J. S. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 311-313

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Familial hypertrophic cardiomyopathy (FHC) is a cardiac disorder transmitted as an autosomal dominant trait. FHC has been shown to be genetically heterogeneous with less than 50% of published pedigrees being associated with mutations in the p myosin heavy chain (β–MHC) gene on chromosome ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0793-311

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20

Digitale Medien

Direct gene transfer of human CFTR into human bronchial epithelia of xenografts with E1–deleted adenoviruses (1993)

Engelhardt, John F. ; Yang, Yiping ; Stratford-Perricaudet, Leslie D. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 27-34

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We describe the use of a human bronchial xenograft model for studying the efficiency and biology of in vivo gene transfer into human bronchial epithelia with recombinant E1 deleted adenoviruses. All cell types in the surface epithelium except basal cells efficiently expressed the adenoviral ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0593-27

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21

Digitale Medien

Collaboration, Canadian style (1993)

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 321-322

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Within scientific research, genetics — and in particular clinical molecular genetics —is as competitive a field as any. With a high level of public awareness feeding off the promise of a new age of predictive medicine, gene therapy and the unravelling of polygenic disorders, there is ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0893-321

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22

Digitale Medien

Huntington's disease: testing the test (1993)

Read, Andrew P.

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 329-330

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Now that the Huntington's disease (HD) mutation has proved to be yet another expanding trinucleotide repeat1, three questions demand an answer. What cellular mechanism makes these repeats unstable? How do expanded repeats cause disease? And finally, what are the implications for diagnosis of HD? ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0893-329

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23

Digitale Medien

EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts (1993)

Zucman, Jessica ; Delattre, Olivier ; Desmaze, Chantal ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 341-345

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The genes involved in the t(12;22)(q13;q12) translocation found recurrently in malignant melanoma of soft parts have been characterized and shown to form, in four cases studied, hybrid transcripts. The deduced chimaeric protein encoded by the der(22) chromosome consists of the N–terminal ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0893-341

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24

Digitale Medien

A Not l restriction map of the entire long arm of human chromosome 21 (1993)

Ichikawa, Hitoshi ; Hosoda, Fumie ; Arai, Yasuhito ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 361-366

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] A variety of maps of the human genome have been constructed, including cloned DNA maps. We have isolated 40 of the 42 Notl sites that exist on the long arm of human chromosome 21, as A Notl linking clones and constructed a complete Notl restriction map spanning the entire region. This map, which ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0893-361

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25

Digitale Medien

Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9 (1993)

Stapleton, Paula ; Weith, Andreas ; Urbánek, Pavel ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 292-298

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In the human paired box-containing (PAX) gene family, only two members, PAX-3 and PAX-6, which are associated with Waardenburg's syndrome and aniridia, respectively have been mapped to human chromosomes. We have now isolated cosmids for six additional human PAX genes (PAX-1,-2,-5,-7,-8,-9) and a ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0493-292

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26

Digitale Medien

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene ( COL2A1 ) defect (1993)

Winterpacht, Andreas ; Hilbert, Matthias ; Schwarze, Ulrike ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 323-326

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Kniest and Stickler dysplasia are two chondrodysplasias characterized by specific phenotypes. No basic defect has been found in patients with Kniest dysplasia, whereas Stickler dysplasia is one of four chondrodysplasias for which mutations of type II procollagen gene (COL2A1) have been identified. ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0493-323

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27

Digitale Medien

Dystrophin expression in the human retina is required for normal function as defined by electroretinography (1993)

Pillers, De-Ann M. ; Bulman, Dennis E. ; Weleber, Richard G. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 82-86

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have studied retinal function by electroretinography in five Becker and six Duchenne muscular dystrophy patients. All had abnormal electroretinograms with a markedly reduced amplitude for the b–wave in the dark–adapted state. Using three antisera raised to different domains of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0593-82

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28

Digitale Medien

Lorenzo Odone (1993)

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 276-276

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In Nature Genetics 3, 95–96; February 1993, Lorenzo Odone (the boy suffering from adrenoleukodystrophy who is featured in the film Lorenzo's oil) was wrongly said to be in a “vegetative state”. On the contrary, his parents quote a teacher as saying that Lorenzo can see, hear and ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0493-276

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29

Digitale Medien

The expanded role of NF1 (1993)

Foulkes, William

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 282-282

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — I read with interest Bernd Seizinger's recent News and Views1 of the role in tumorigenesis of NF1, which is defective in neurofibro-matosis type 1. While there is clear evidence that NF1 is implicated in a wider variety of tumours than had been suspected from the analysis of NF1 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0493-282b

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Clustered base substitutions in CTP synthetase conferring drug resistance in Chinese hamster ovary cells (1993)

Whelan, Jeremy ; Phear, Geraldine ; Yamauchi, Masatake ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 317-322

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Dominantly acting mutations that eliminate the allosteric regulation of CTP synthetase confer a form of multidrug resistance and a mutator phenotype to cultured Chinese hamster ovary cells. Mutations responsible for this phenotype have been identified in 23 independent strains selected for ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0493-317

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Corrigendum: Allelic loss of chromosome 1p36 in neuroblastoma is of preferential maternal origin and correlates with N-myc amplification (1993)

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 431-431

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] H. Caron, P. van Sluis, M. van Hoeve, J. de Kraker, J. Bras, R. Slater, M. Mannens, P.A.Voûte, A. Westerveld & R. Versteeg Nature Genetics 4, 187–190 (1993). Acknowledgements We thank V. Lauthier, M. Schwab and A. Weithfor making DNA probes available to us; we are grateful to J. ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0893-431a

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Corrigendum: Human genes containing polymorphic trinucleotide repeats (1993)

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 273-273

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] G. J. Riggins, L. K. Lokey, J. L. Chastin, H. A. Leiner, S. L. Sherman, K. D. Wilkinson & S. T. Warren Nature Genetics 2,186–191 (1992) In this article the authors inadvertently referred to the gene GST1 (accession no. XI7644) as glutathione-S-transferase when, in fact, the sequence ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0393-273b

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Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma (1993)

Barr, Frederic G. ; Galili, Naomi ; Holick, John ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 113-117

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have determined that PAX3 (found previously to be mutated in Waardenburg syndrome) is the chromosome 2 locus rearranged by the t(2;13)(q35;q14) translocation of the paediatric solid tumour alveolar rhabdomyosarcoma. The rearrangement breakpoints occur within an intron downstream of the paired ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0293-113

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Are X–linked cutis laxa and Menkes disease allelic? (1993)

Levinson, Barbara ; Gitschier, Jane ; Vulpe, Christopher ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 6-6

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — X-linked cutis laxa, or the occipital horn syndrome, is a connective tissue disorder characterized by hyperelastic and bruisable skin, varicosities, hernias, bladder diverticula and skeletal abnormalities, including long bone and occipital exostoses1. Clinical and biochemical ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0193-6

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The molecular basis of the human serum paraoxonase activity polymorphism (1993)

Humbert, Richard ; Adler, David A. ; Disteche, Christine M. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 73-76

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The organophosphate cholinesterase inhibitor paraoxon is hydrolysed by serum paraoxonase/arylesterase. A genetic polymorphism of paraoxonase (PON) activity which determines high versus low paraoxon hydrolysis in human populations, may determine sensitivity to parathion poisoning. We demonstrate ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0193-73

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X-chromosome inactivation occurs at different times in different tissues of the post-implantation mouse embryo (1993)

Tan, Seong-Seng ; Williams, Elizabeth A. ; Tam, Patrick P.L.

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 170-174

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] During mammalian development, one of the two X chromosomes in female embryos is randomly inactivated in the somatic cell in order to achieve gene dosage compensation. But is X inactivation established simultaneously or is it accomplished over time in a lineage–dependent fashion? We have ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0293-170

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Digitale Medien

Marfan gene dissected (1993)

Sykes, Bryan

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 99-100

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In the spring of 1991 the gene that causes Marfan syndrome fell to a combined assault of positional and functional cloning1,2. The syndrome, which appears as a combination of, among other things, long spidery fingers, dislocated lenses and frequently fatal aortic root swelling, may not have been a ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0293-99

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Behavioural disorders: lessons in linkage (1993)

Pauls, David L.

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 4-5

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Human genetics has undergone a significant transformation in the past decade. With the discovery of highly polymorphic DNA markers it has been possible to develop an initial map of the human genome and locate and characterize genes for a number of inherited conditions1. Early success (for example, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0193-4

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Large deletions and other gross forms of chromosome imbalance compatible with viability and fertility in the mouse (1993)

Cattanach, B.M. ; Burtenshaw, M.D. ; Rasberry, C. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 56-61

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Large deletions and other gross forms of chromosome imbalance are known in man but have rarely been found in the mouse. By screening progeny of spermatogonially irradiated male mice for a combination of runting and other phenotypic effects, we have identified animals that have large deletions ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0193-56

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Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease (1993)

Kaul, Rajinder ; Ping Gao, Guang ; Balamurugan, Kuppareddi ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 118-123

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Canavan disease, an autosomal recessive leukodystrophy, is caused by deficiency of aspartoacylase and accumulation of N–acetylaspartic acid in brain. We have cloned the human aspartoacylase (ASP) cDNA spanning 1,435 basepairs, and show that the isolated cDNA expresses aspartoacylase activity ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1093-118

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Transgenic mice containing a human heavy chain immunoglobulin gene fragment cloned in a yeast artificial chromosome (1993)

Choi, Ted K. ; Hollenbach, Paul W. ; Pearson, Barbara E. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 117-123

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have developed a method for the introduction of yeast artificial chromosomes (YACs) into transgenic mice. An 85 kilobase (kb) fragment of the human heavy chain immunoglobulin gene was cloned as a YAC, and embryonic stem cell lines carrying intact, integrated YACs were derived by ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0693-117

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The full mutation in the FMR–1 gene of male fragile X patients is absent in their sperm (1993)

Reyniers, Edwin ; Vits, Lieve ; De Boulle, Kristel ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 143-146

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Fragile X syndrome is characterized at the molecular level by amplification of a (CGG)n repeat and hypermethylation of a CpG island preceeding the open reading frame of the fragile X gene (FMR–1) located in Xq27.3. Anticipation in this syndrome is associated with progressive amplification of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0693-143

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Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events (1993)

Weiffenbach, B. ; Dubois, J. ; Storvick, D. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 165-169

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] A gene responsible for facioscapulohumeral muscular dystrophy (FSHD) has been linked to polymorphisms on chromosome 4q35. Multipoint linkage analyses have placed this gene distal to all reported genetic markers on the chromosome. By using as a probe a clone isolated from a cosmid containing ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0693-165

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Allelic loss of chromosome 1p36 in neuroblastoma is of preferential maternal origin and correlates with N–myc amplification (1993)

Caron, Huib ; van Sluis, Peter ; van Hoeve, Melanie ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 187-190

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Neuroblastomas frequently have deletions of chromosome 1 p and amplification of the N–myc oncogene. We analysed 53 neuroblastomas for the N–myc copy number, loss of heterozygosity (LOH) of chromosome 1 p36 and the parental origin of the lost alleles. Allelic loss of 1p36 was found in 15 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0693-187

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The joys of reverse biology (1993)

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 1-4

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] For the legions of research groups scouring the human genome for important disease loci, cloning the gene involved can often be the least of their problems. This enterprise, which has been termed ‘reverse biology’, is winning more and more disciples who have experienced that ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0593-1

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Genomic mismatch scanning: a new approach to genetic linkage mapping (1993)

Nelson, Stanley F. ; McCusker, John H. ; Sander, Mark A. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 11-18

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Genomic mismatch scanning (GMS) is a new method of genetic linkage analysis that does not require conventional polymorphic markers or gel electrophoresis. GMS is ideally suited to affected–relative–pair mapping. DNA fragments from all regions of identity–by–descent between ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0593-11

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Gain of function mutations in p53 (1993)

Dittmer, Dirk ; Pati, Sibani ; Zambetti, Gerard ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 42-46

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We report that the expression of murine or human mutant p53 proteins in cells with no endogenous p53 proteins confers new or additional phenotypes upon these cells. Mutant p53 proteins expressed in cell lines lacking p53 resulted in either enhanced tumorigenic potential in nude mice ((10)3 cells) ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0593-42

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Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q (1993)

Jordan, Siobhán A. ; Farrar, G. Jane ; Kenna, Paul ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 54-58

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Retinitis pigmentosa is a group of clinically and genetically heterogeneous retinopathies and a significant cause of worldwide visual handicap. We have typed DNA from members of a Spanish family segregating an autosomal dominant form of retinitis pigmentosa (adRP) using a large series of simple ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0593-54

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Questions of expansion (1993)

Mandel, Jean-Louis

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 8-9

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The remarkable report1 of the identification of an unstable expansion of a GAG repeat in Huntington's disease (HD) closes a desperate 10-year search for the causative gene. The cloning of ‘huntingtin’ opens a new era devoted to understanding the relation between expansion within a ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0593-8

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Parental genomic imprinting of the human IGF2 gene (1993)

Giannoukakis, Nick ; Deal, Cheri ; Paquette, Jean ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 98-101

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The mouse igf2 gene, coding for the insulin–like growth factor II (IGF–II) is parentally imprinted, only the gene copy derived from the father is expressed. To know whether IGF2, the human homologue, is also imprinted, we used an Apal polymorphism at the 3′ untranslated region in ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0593-98

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Retreat of the triplet repeat? (1993)

David Brook, J.

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 279

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have witnessed some considerable developments during the past 15 months in our understanding of the molecular genetic events underlying myotonic dystrophy (DM). The DM phenotype although extremely variable, is characterized by myotonia with progressive muscle weakness and wasting1. DM was the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0493-279

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The rise and fall of positional cloning? (1993)

Ballabio, Andrea

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 277-279

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Some remarkable insights of medical and biological importance have emerged from the elucidation of the role of specific genes in the pathogenesis of inherited disorders. The process of disease gene identification, however, can be particularly laborious and time-consuming. Several strategies have ...

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URL: http://dx.doi.org/10.1038/ng0493-277

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HLA class II alleles and susceptibility and resistance to insulin dependent diabetes mellitus in Mexican-American families (1993)

Erlich, Henry A. ; Zeidler, Adina ; Chang, Julie ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 358-364

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The role of HLA class II alleles in genetic predisposition to insulin dependent diabetes mellitus (IDDM) was examined by PCR/oligonucleotide probe typing of 42 Mexican-American IDDM families derived from Hispanic Caucasians and Native Americans. All high risk haplotypes (HLA-DR3 and DR4) were of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0493-358

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Mission in Mongolia (1993)

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 313-315

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Ulan Bator. Seven hundred years ago, the Mongolian Empire of Kublai Khan (grandson of Ghenghis) stretched from Korea to Hungary. Alas, today, Mongolia is so beset with its own economic problems that its current research plight would not rank high on most people's agenda. For 70 years, starting in ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1293-313

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Left, right and without a cue (1993)

Howrich, Arthur ; Brueckner, Martina

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 321-322

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Recent studies, including a report on page 403 of this issue of Nature Genetics1 have pinpointed a number of distinct genetic loci in mouse and now human, involved with establishing the characteristic left-right asymmetric organization of visceral organs. Such organization, most visibly a ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1293-321

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Mutations in the α 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia (1993)

Shiang, Rita ; Ryan, Stephen G. ; Zhu, Ya-Zhen ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 351-358

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Hereditary hyperekplexia, or familial startle disease (STHE), is an autosomal dominant neurologic disorder characterized by marked muscle rigidity of central nervous system origin and an exaggerated startle response to unexpected acoustic or tactile stimuli. Linkage analyses in several large ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1293-351

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Inactivation of WT1 in nephrogenic rests, genetic precursors to Wilms' tumour (1993)

Park, Seon ; Bernard, Amy ; Bove, Kevin E. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 363-367

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Nephrogenic rests consist of foci of primitive renal cells, typically microscopic, that are found within the normal kidney tissue of children with Wilms' tumour. To study the relationship between nephrogenic rests and the associated tumours, we screened these lesions for mutations in the 11p13 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1293-363

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Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1 (1993)

Casey, Brett ; Devoto, Marcella ; Jones, Kenneth L. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 403-407

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Ambiguous abdominal situs, asplenia/polysplenia and severe cardiac malformations characterize heterotaxy in humans. These anomalies result from the inability of the developing embryo to establish normal left–right asymmetry. We have studied an interesting family in which the heterotaxy ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1293-403

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Money matters (1993)

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 206-206

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In last month's editorial (Vol. 5, 101–102; 1993), the US Army was said to have received a $210 appropriation for breast cancer research. This should, of course, have read $210 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1193-206

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Is MHC matching as a primary criterion in kidney allocation justified? (1993)

Matas, Arthur J.

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 210-213

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] There are numerous goals to be satisfied when compiling a list of criteria for the choice of kidneys in transplant operations: to demonstrate objectivity, to improve transplant outcome, to be fair to all on the waiting list, to be timely (kidneys have a finite preservation time) and to limit costs. ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1193-210b

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Reduced transcriptional regulatory competence of the androgen receptor in X–linked spinal and bulbar muscular atrophy (1993)

Mhatre, Anand N. ; Trifiro, Mark A. ; Kaufman, Morris ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 184-188

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Expansion of the long (CAG; glutamine)n repeat in the first exon of the X–linked human androgen receptor gene (hAR) causes spinal and bulbar muscular atrophy, frequently in association with mild androgen insensitivity. The relevant normal motor neurons are preferentially stimulated by ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1093-184

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Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome (1993)

Ewart, Amanda K. ; Morris, Colleen A. ; Atkinson, Donald ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 11-16

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Williams syndrome (WS) is a developmental disorder affecting connective tissue and the central nervous system. A common feature of WS, supravalvular aortic stenosis, is also a distinct autosomal dominant disorder caused by mutations in the elastin gene. In this study, we identified hemizygosity at ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0993-11

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High resolution visual mapping of stretched DNA by fluorescent hybridization (1993)

Parra, Irma ; Windle, Bradford

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 17-21

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We describe a method for stretching DNA, which, when combined with fluorescent hybridization procedures, forms a new mapping technology that produces a high resolution, vivid, multi–colour image and map. Restriction fragments and cosmid probes were successfully mapped by this procedure with ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0993-17

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A gene for familial hemiplegic migraine maps to chromosome 19 (1993)

Joutel, Anne ; Bousser, Marie-Germaine ; Biousse, Valérie ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 40-45

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Familial hemiplegic migraine is an autosomal dominant disorder of unknown pathogenesis in which the migrainous attacks are marked by the occurrence of a transient hemiplegia during the aura. While investigating CADASIL, mapped previously to chromosome 19, we observed that some patients had ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0993-40

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Point mutations in the c–Myc transactivation domain are common in Burkitt's lymphoma and mouse plasmacytomas (1993)

Bhatia, K. ; Huppi, K. ; Spangler, G. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 56-61

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have screened the entire coding region of c–myc in a panel of Burkitt's lymphomas (BLs) and mouse plasmacytomas (PCTs). Contrary to the belief that c–myc is wild type in these tumours, we found that 65% of 57 BLs and 30% of 10 PCTs tested exhibit at least one amino acid (aa) ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0993-56

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Molecular genetic basis of the human Rhesus blood group system (1993)

Mouro, Isabelle ; Colin, Yves ; Chérif-Zahar, Baya ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 62-65

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The Rhesus (RH) blood group locus is composed of two related structural genes, D and CcEe, that encode red cell membrane proteins carrying the D, Cc and Ee antigens. As demonstrated previously, the RhD–positive/RhD–negative polymorphism is associated with the presence or the absence of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0993-62

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Mutations of PAX3 unlikely in Waardenburg syndrome type 2 (1993)

Arias, Sergio

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 8-8

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — Waardenburg syndrome has been divided with regard to dystopia canthorum (DC), into types 1 (presence) and 2 (absence) of the sign1; this can be confidently assessed with index W (ref. 2). Lack of penetrance for DC in WS1 occurs in no more than 1% of cases. Most clinically ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0993-8a

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Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia (1993)

Quane, K. A. ; Healy, J.M.S. ; Keating, K. E. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 51-55

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Central core disease (CCD) of muscle is an inherited myopathy which is closely associated with malignant hyperthermia (MH) in humans. CCD has recently been shown to be tightly linked to the ryanodine receptor gene (RYR1) and mutations in this gene are known to be present in MH. Mutation screening ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0993-51

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Homozygous deletion of the human insulin receptor gene results in leprechaunism (1993)

Wertheimer, Efrat ; Lu, Su-Ping ; Backeljauw, Philippe F. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 71-73

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Homozygous inactivation of a gene, as is frequently performed to generate mouse models, provides an opportunity to elucidate the role that the gene plays in normal physiology. However, studies of human disease provide direct insight into the effect of inactivating mutations in man. In this ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0993-71

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The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans (1993)

Kalscheuer, Vera M. ; Mariman, Edwin C. ; Schepens, Marga T. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 74-78

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In mouse, four genes have been found to undergo genomic imprinting resulting in differential expression of maternally and paternally inherited alleles. To determine whether the cognate genes are also subject to imprinting in humans, we have studied allele–specific expression patterns of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0993-74

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A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10 (1993)

Angrist, Misha ; Kauffman, Erick ; Slaugenhaupt, Susan A. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 351-356

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Hirschsprung disease (HSCR) is characterized by a congenital absence of enteric ganglia along a variable length of the intestine. Although long considered to be a multifactorial disease, we have identified linkage in a subset of five HSCR families to the pericentromeric region of chromosome 10, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0893-351

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Chromosomal distribution of 320 genes from a brain cDNA library (1993)

Polymeropoulos, Mihael H. ; Xiao, Hong ; Sikela, James M. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 381-386

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have determined the chromosomal assignment of 320 brain expressed genes by studying the segregation of polymerase chain reaction (PCR) products in human rodent somatic cell hybrids and by genetically mapping polymorphic cDNAs using the CEPH (Centre d'Etude du Polymophisme Humaine) reference ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0893-381

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The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease (1993)

Andrew, Susan E. ; Paul Goldberg, Y. ; Kremer, Berry ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 398-403

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Huntington's disease (HD) is associated with the expansion of a CAG trinucleotide repeat in a novel gene. We have assessed 360 HD individuals from 259 unrelated families and found a highly significant correlation (r = 0.70, p = 10−7) between the age of onset and the repeat length, which ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0893-398

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A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient (1993)

Prior, Thomas W. ; Papp, Audrey C. ; Snyder, Pamela J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 357-360

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] About two thirds of Duchenne muscular dystrophy (DMD) patients have either gene deletions or duplications. The other DMD cases are most likely the result of point mutations that cannot be easily identified by current strategies. Utilizing a heteroduplex technique and direct sequencing of amplified ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0893-357

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Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease (1993)

Snell, Russell G. ; MacMillan, John C. ; Cheadle, Jeremy P. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 393-397

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The molecular analysis of a specific CAG repeat sequence in the Huntington's disease gene in 440 Huntington's disease patients and 360 normal controls reveals a range of 30–70 repeats in affected individuals and 9–34 in normals. We find significant negative correlations between the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0893-393

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Diagnosing the heart of the problem (1993)

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 211-212

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In the glamorous world of professional sports, few athletes are lucky enough to escape physical injury at some time or other. Debilitating ailments such as torn anterior cruciate ligaments and rotator cuffs are seemingly as commonplace in the sports pages as the anatomy textbooks. There is a ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0793-211

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Are linkage studies boring? (1993)

Bird, Thomas D.

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 213-214

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] A colleague told me recently that linkage studies are boring. By this he meant they are easy to do, tedious and produce little information. I disagree. I find genetic linkage studies to be challenging, fascinating and valuable. The two linkage studies concerning the hereditary ataxias in the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0793-213

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3,400 new expressed sequence tags identify diversity of transcripts in human brain (1993)

Adams, Mark D. ; Kerlavage, Anthony R. ; Fields, Chris ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 256-267

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We present the results of the partial sequencing of over 3,400 expressed sequence tags (ESTs) from human brain cDNA clones, which increases the number of distinct genes expressed in the brain, that are represented by ESTs, to about 6,000. By choosing clones in an unbiased manner, it is possible to ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0793-256

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Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness (1993)

Dryja, Thaddeus P. ; Berson, Eliot L. ; Rao, Vikram R. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 280-283

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] A number of mutations in the rhodopsin gene have been shown to cause both dominant and recessive retinitis pigmentosa. Here we describe another phenotype associated with a defect in this gene. We discovered a patient with congenital stationary night blindness who carries the missense mutation ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0793-280

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Corrigendum: Transgenic mice containing a human heavy chain immunoglobulin gene fragment cloned in a yeast artificial chromosome (1993)

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 320-320

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Ted K. Choi, Paul W. Hollenbach, Barbara E. Pearson, Roanna M. Ueda, Gregory N. Weddell, Carole G. Kurahara, Clive S. Woodhouse, Robert M. Kay & Jeanne F. Loring Nature Genetics 4, 117–123 (1993) The final reference that was cited in the text was not included in the reference list. The ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0793-320a

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Erythropoietin receptor mutations and Olympic glory (1993)

Longmore, Gregory D.

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 108-110

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Erythropoietin (Epo), acting through its specific cell surface receptor (EpoR), is the principal growth factor promoting viability, proliferation and differentiation of mammalian erythroid progenitor cells. In contrast to many other haematopoietic growth factors, Epo acts primarily on erythroid ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0693-108

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Angiotensinogen: a candidate gene involved in preeclampsia? (1993)

Arngrímsson, Reynir ; Purandare, Smita ; Connor, Michael ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 114-115

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — In a recent issue of Nature Genetics Ward et al.1 reported an association between preeclampsia and a molecular variant (M235T) in the angiotensinogen gene (ACT) on chromosome lq42–43 in 54 patients from the USA and Japan. We have further evidence for the role of ACT or a ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0693-114

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Direct detection of novel expanded trinucleotide repeats in the human genome (1993)

Schalling, Martin ; Hudson, Thomas J. ; Buetow, Kenneth H. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 135-139

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Expansion of trinucleotide repeats can give rise to genetic disease. We have developed a technique, repeat expansion detection (RED), that can identify potentially pathological repeat expansion without prior knowledge of chromosomal location. Human genomic DNA is used as a template for a ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0693-135

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Correction of lysosomal storage in the liver and spleen of MPS VII mice by implantation of genetically modified skin fibroblasts (1993)

Moullier, Philippe ; Bohl, Delphine ; Heard, Jean-Michel ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 154-159

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Genetic defects of lysosomal hydrolases result in severe storage diseases and treatments based on enzyme replacement have been proposed. In mice lacking β–glucuronidase, which develop a disease homologous to human mucopolysaccharidosis type VII (Sly syndrome), we have used autologous ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0693-154

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Fusion of the dominant negative transcription regulator CHOP with a novel gene FUS by translocation t(12;16) in malignant liposarcoma (1993)

Rabbitts, T.H. ; Forster, A. ; Larson, R. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 175-180

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The search for tumour–specific markers is one of the chief goals in cancer biology. We show that the translocation t(12;16)(q13:p11) in malignant myxoid liposarcoma can be a fusion of the CHOP dominant negative transcription factor gene with a novel gene, FUS, which can result in fusion of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0693-175

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Preferential amplification of the paternal allele of the N–myc gene in human neuroblastomas (1993)

Cheng, Judy M. ; Hiemstra, Jill L. ; Schneider, Sandra S. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 191-194

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Genomic imprinting plays a role in influencing the parental origin of genes involved in cancer–specific rearrangements. We have analysed 22 neuroblastomas with N–myc amplification to determine the parental origin of the amplified N–myc allele and the allele that is deleted from ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0693-191

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87

Digitale Medien

APP717 and Alzheimer's disease in Italy (1993)

Sorbi, Sandro ; Nacmias, Benedetta ; Forleo, Paolo ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 10-10

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — A possible pathogenetic mutation in the amyloid precursor protein (APP) gene causing a Val to He change at codon 717 has been reported in seven families with early onset familial Alzheimer's disease (EOFAD), four of British origin and three Japanese1–5. It has been suggested that ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0593-10

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88

Digitale Medien

Microsatellite mapping of a gene affecting horn development in Bos taurus (1993)

Georges, Michel ; Drinkwater, Roger ; King, Tracey ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 206-210

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The presence or absence of horns in Bos taurus is thought to be under the genetic control of the autosomal polled locus, characterized by two alleles: P dominant over p, and causing the polled or hornless phenotype. We have demonstrated genetic linkage between the polled locus and two ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0693-206

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89

Digitale Medien

Odds and SODs (1993)

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 275-276

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The recent report in Nature that the gene for amyotrophiclateral sclerosis (ALS), often referred to as Lou Gehrig's disease, is none other than Cu, Zn-superoxide dismutase (SOD1)1, has prompted a considerable amount of media coverage on both sides of the Atlantic, and for good reason. After all, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0493-275

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90

Digitale Medien

A tandem duplication in the D–loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies (1993)

Brockington, Martin ; Sweeney, Mary G. ; Hammans, Simon R. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 67-71

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] About 40 per cent of patients with mitochondrial myopathies have two populations of mitochondrial DNA (mtDNA) in muscle, one of which is deleted. All patients with single mtDNA deletions and neurological disease are sporadic cases, suggesting that deletions arise as fresh mutational events. We have ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0593-67

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91

Digitale Medien

New mdx mutation disrupts expression of muscle and nonmuscle isoforms of dystrophin (1993)

Cox, Gregory A. ; Phelps, Stephanie F. ; Chapman, Verne M. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 87-93

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The dystrophin gene encodes several tissue–specific protein isoforms that are generated by alternative splicing and by transcription from at least three separate promoters. We have characterized the mutation in a new strain of mdx mice that results in aberrant splicing of both the 14 and 4.8 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0593-87

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92

Digitale Medien

Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis (1993)

Sulisalo, Tuija ; Sistonen, Pertti ; Hästbacka, Johanna ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 338-341

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Cartilage-hair hypoplasia (CHH) is an autosomal recessive skeletal dysplasia of unknown pathogenesis leading to short-limbed stature. Associated features include hypoplasia of hair, abnormal cellular immunity, deficient erythrogenesis, increased risk of malignancies, Hirschsprung disease, and ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0493-338

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93

Digitale Medien

A duplication in the L1CAM gene associated with X–linked hydrocephalus (1993)

Camp, Guy Van ; Vits, Lieve ; Coucke, Paul ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 421-425

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Recently, a mutation in the gene for the neural cell adhesion molecule L1CAM, located at chromosome Xq28, was found in a family with X–linked hydrocephalus (HSAS). However, as the L1CAM mutation could only be identified in one HSAS family, it remained unclear whether or not L1CAM was the gene ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0893-421

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94

Digitale Medien

The Wilms tumour gene WT1 is expressed in murine mesoderm–derived tissues and mutated in a human mesothelioma (1993)

Park, Seon ; Schalling, Martin ; Bernard, Amy ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 415-420

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The tumour suppressor gene WT1 encodes a transcription factor expressed in tissues of the genito–urinary system. Inactivation of this gene is associated with the development of Wilms tumour a pediatric kidney cancer. We show that WT1 is also expressed at high levels in many supportive ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0893-415

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95

Digitale Medien

Targeting in linear DNA duplexes with two complementary probe strands for hybrid stability (1993)

Sena, Elissa P. ; Zarling, David A.

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 365-372

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] A new in vitro hybridization reaction targets two short complementary RecA protein-coated DNA probes to homologous sequences at any position in a linear duplex DNA molecule. Stable hybrids are obtained after RecA protein removal when both complementary probe strands are present in a four-stranded ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0493-365

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96

Digitale Medien

Finding new genes faster than ever (1993)

Sikela, James M. ; Auffray, Charles

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 189-191

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] While the merits of large scale cDNA analyses have been slow to be generally appreciated, it is now becoming clear that the systematic cataloging of our genes will owe much to cDNA-based approaches—a point that early cDNA proponents1–4 can view with considerable, albeit belated, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0393-189

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97

Digitale Medien

Butterfly–shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene (1993)

Nichols, Brian E. ; Sheffield, Val C. ; Vandenburgh, Kimberlie ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 202-207

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Butterfly–shaped pigment dystrophy of the fovea is an autosomal dominant eye disease characterized by a bilateral accumulation of yellowish or pigmented material at the level of the retinal pigment epithelium. It shares some clinical and histopathologic features with age related macular ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0393-202

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98

Digitale Medien

Transfer of a foreign gene into the brain using adenovirus vectors (1993)

Akli, Saïd ; Caillaud, Catherine ; Vigne, Emmanuelle ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 224-228

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The ability of a replication–deficient adenovirus vector to transfer a foreign gene into neural cells of adult rats in vivo has been analysed. A large number of neural cells (including neurons, astrocytes and ependymal cells) expressed an E. coli lacZ transgene for at least 45 days after ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0393-224

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99

Digitale Medien

Corrigendum: Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase (1993)

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 273-273

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] C. Vulpe, B. Levinson, S. Whitney, S. Packman & J. Gitschier Nature Genetics 3, 7–13 (1993) Further analysis of the predicted protein indicates at least one, and possibly two, additional transmembrane domains. The first of these lies between amino acids 653 and 675 and would constitute ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0393-273a

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100

Digitale Medien

The last shall be first (1993)

Trent, Jeffrey M. ; Meltzer, Paul S.

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 101-102

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Since the publication of Boveri's classic work entitled Zur Frage der Entstehung maligner Tumoren (The Origins ofMalignant Tumors) in 1914 (ref. 1) there has been an increasing awareness that chromosome alterations play a meaningful role in most, if not all, human malignancies. Following the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0293-101

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