ALBERT — All Library Books, journals and Electronic Records Telegrafenberg

1

Digitale Medien

Tylosis oesophageal cancer mapped (1994)

Risk, J.M. ; Field, E.A. ; Field, J.K. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 319-321

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes, which have been classified into diffuse, punctate, and focal forms1 according to the pattern of hyperkeratosis on the palms and soles. Diffuse pal-moplantar keratodermas can be further sub-divided by the presence ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-319

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2

Digitale Medien

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy (1994)

Weber, Bernhard H. F. ; Vogt, Gudrun ; Pruett, Ronald C. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 352-356

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The hereditary macular dystrophies are progressive degenerations of the central retina and contribute significantly to irreversible visual loss in developed countries. Among these disorders, Sorsby's fundus dystrophy (SFD), an autosomal dominant condition, provides an excellent mendelian model for ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-352

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3

Digitale Medien

A 300 kilobase interval genetic map of rice including 883 expressed sequences (1994)

Kurata, N. ; Nagamura, Y. ; Yamamoto, K. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 365-372

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have constructed a high resolution rice genetic map containing 1,383 DNA markers at an average interval of 300 kilobases (kb). The markers, distributed along 1,575 cM on 12 linkage groups, comprise 883 cDNAs, 265 genomic DNAs, 147 randomly amplified polymorphic DNAs (RAPD) and 88 other DNAs. ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-365

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4

Digitale Medien

Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families (1994)

Friedman, Lori S. ; Ostermeyer, Elizabeth A. ; Szabo, Csilla I. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 399-404

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We provide genetic evidence supporting the identity of the candidate gene for BRCA1 through the characterization of germline mutations in 63 breast cancer patients and 10 ovarian cancer patients in ten families with cancer linked to chromosome 17q21. Nine different mutations were detected by ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-399

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5

Digitale Medien

Corrigendum: Frequent somatic mutations and homozygous deletions of the p16 (MTS1) gene in pancreatic adenocarcinoma (1994)

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 410-410

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Carlos Caldas, Stephan A. Harm, Luis T. da Costa, Mark S. Redston, Mieke Schutte, Albert B. Seymour, Craig L. Weinstein, Ralph H. Hruban, Charles J. Yeo & Scott E. Kern Nature Genetics 8, 27–32 (1994) In Fig. 2, the labels for the lanes “Panel” and “CFPAC1”were ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-410c

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6

Digitale Medien

Genome linkage scanning: systematic or intelligent? (1994)

Antonarakis, Stylianos E.

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 211-212

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The availability of highly informative DNA polymorphic markers now permits the localization of any monogenic phenotype to a precise region of the human genome. The mapping of a disease gene is, in turn, a prerequisite for its positional cloning, the prediction of the corresponding protein, and for ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1194-211

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7

Digitale Medien

Screening for truncated NF1 proteins (1994)

Heim, Ruth A. ; Silverman, Lawrence M. ; Farber, Rosann A. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 218-219

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir—Theneurofibromatosis 1 (NF1) gene, cloned in 1990 (ref. 1-3), spans approximately 350 kilobases (kb) of genomic DNA, encodes an mRNA of 11–13 kb, and contains at least 56 exons4. The large size of the gene has made mutation detection difficult using traditional techniques such as ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1194-218

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8

Digitale Medien

PBDX is the XG blood group gene (1994)

Ellis, Nathan A. ; Tippett, Patricia ; Petty, Alison ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 285-290

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have identified the Xga antigen, encoded by the XG blood group gene, by employing rabbit polyclonal and mouse monoclonal antibodies raised against a peptide derived from the N-terminal domain of a candidate gene, referred to earlier as PBDX. In indirect haemagglutination assays, these ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1194-285

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9

Digitale Medien

The glittering prize (1994)

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 105-106

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In the words of the front-page report in The New York Times announcing the discovery, it was ‘a genetic trophy so ferociously coveted and loudly heralded that it had taken on a near-mythic aura’1. It was the culmination of a research race that took four agonizing years to complete, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1094-105

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10

Digitale Medien

Ion channel Shake -down (1994)

Ptáček, Louis

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 111-112

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Voltage-gated potassium channels constitute a family of highly related proteins that are involved in a wide variety of biological processes including modulating electrical signals in neurons and muscle. They share significant similarities with voltage-gated sodium and calcium channels; the genes ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1094-111

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11

Digitale Medien

The Sjögren-Larsson Syndrome gene is close to D17S805 as determined by linkage analysis and allelic association (1994)

Pigg, Maritta ; Jagell, Sten ; Sillén, Anna ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 361-364

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sjögren-Larsson Syndrome (SLS) is characterized by congenital ichthyosis, spastic di- or tetraplegia and mental retardation. It is an autosomal recessive trait that is frequent in the northern part of Sweden. Based on linkage analysis and allelic association, the disorder has now been mapped ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-361

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12

Digitale Medien

Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer (1994)

Castilla, Lucio H. ; Couch, Fergus J. ; Erdos, Michael R. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 387-391

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We analysed 50 probands with a family history of breast and/or ovarian cancer for germline mutations in the coding region of the BRCA1 candidate gene, using single-strand conformation polymorphism (SSCP) analysis on PCR-amplified genomic DNA. A total of eight putative disease-causing alterations ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-387

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13

Digitale Medien

Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer (1994)

Hemminki, Akseli ; Peltomäki, Päivi ; Mecklin, Jukka-Pekka ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 405-410

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The mechanism by which germline mutations of DNA mismatch repair genes cause susceptibility to tumour formation is not yet understood. Studies in vitro indicate that heterozygosity for these mutations, unlike homozygosity, does not affect mismatch repair. Surprisingly, no loss of heterozygosity at ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-405

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14

Digitale Medien

Co-factor insufficiency in Dystonia-Parkinsonian syndrome (1994)

Ozelius, Laurie J. ; Breakefield, Xandra O.

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 207-208

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] On page 229 of this issue, Ichinose et al.1 provide strong evidence for the identification of the first causative gene for an inherited dystonia, termed hereditary progressive dystonia (HPD) or dopa-responsive dystonia (DRD). Dystonia refers to a heterogeneous group of movement disorders of unknown ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1194-207

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15

Digitale Medien

Age of the ΔF508 cystic fibrosis mutation (1994)

Kaplan, N. L. ; Lewis, P. O. ; Weir, B. S.

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 216-216

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir—In a recent Nature Genetics paper, Morral et al. suggested that the ΔF508 mutation, responsible for 70% of the cases of cystic fibrosis (CF), is at least 2,600 generations old. This is far greater than the usually accepted figure of a few hundred generations2. Morral et al. ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1194-216a

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16

Digitale Medien

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 (1994)

Kawaguchi, Yoshiya ; Okamoto, Toshihiro ; Taniwaki, Masafumi ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 221-228

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have identified a novel gene containing CAG repeats and mapped it to chromosome 14q32.1, the genetic locus for Machado-Joseph disease (MJD). In normal individuals the gene contains between 13 and 36 CAG repeats, whereas most of the clinically diagnosed patients and all of the affected members of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1194-221

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17

Digitale Medien

Germline p16 mutations in familial melanoma (1994)

Hussussian, Christopher J. ; Struewing, Jeffery P. ; Goldstein, Alisa M. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 15-21

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The p16 gene is located in chromosome 9p21, a region that is linked to familial melanoma and homozygously deleted in many tumour cell lines. We describe eight p16 germline substitutions (one nonsense, one splice donor site and six missense) in 13/18 familial melanoma kindreds. Six of these ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-15

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18

Digitale Medien

Reply to “RFLVs in mottled dappled alleles” (1994)

Levinson, B. ; Vulpe, C. ; Elder, B. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 12-12

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Levinson et al. reply — We have performed Southern blot analysis of DNA from the Modp mutant and the PT strain, kindly provided by Drs Reed and Boyd, and find an identical pattern, thereby supporting their conclusions. Our misinterpretation stemmed from our difficulty in determining the exact ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-12

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19

Digitale Medien

A mixed message for cystic fibrosis gene therapy (1994)

Alton, Eric ; Geddes, Duncan

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 8-9

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The paper by Crystal and colleagues on page 42 of this issue1 marks an important step in the progress of human gene therapy trials for cystic fibrosis (CF). It describes the first attempt at transferring the CF gene to the lower airways of CF patients, and highlights three key features of current ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-8

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20

Digitale Medien

Administration of an adenovirus containing the human CFTR cDNA to the respiratory tract of individuals with cystic fibrosis (1994)

Crystal, Ronald G. ; McElvaney, Noel G. ; Rosenfeld, Melissa A. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 42-51

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have administered a recombinant adenovirus vector (AdCFTR) containing the normal human CFTR cDNA to the nasal and bronchial epithelium of four individuals with cystic fibrosis (CF). We show that this vector can express the CFTR cDNA in the CF respiratory epithelium in vivo. With doses up to 2 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-42

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21

Digitale Medien

A radiation hybrid map of 506 STS markers spanning human chromosome 11 (1994)

James, M.R. ; Richard, C.W. ; Schott, J.-J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 70-76

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We present a high resolution radiation hybrid map of human chromosome 11 using 506 sequence tagged sites (STSs) scored on a panel of 86 radiation hybrids. The 506 STSs fall into 299 unique positions (average resolution of about 480 kilobases (kb)) that span the whole chromosome. A subset of 260 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-70

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22

Digitale Medien

Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4 (1994)

Polymeropoulos, Mihael H. ; Swift, Ronnie Gorman ; Swift, Michael

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 95-97

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Wolfram syndrome is an autosomal recessive disorder defined by the occurrence of diabetes mellitus and progressive bilateral optic atrophy. Wolfram syndrome homozygotes develop widespread nervous system abnormalities; in particular, they exhibit severe behavioural difficulties that often lead to ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-95

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23

Digitale Medien

Chromosome cleared (1994)

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 450-450

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In last month's editorial (Vol. 7, 341–342; 1994), a recessive form of polycystic kidney disease was said to map to chromosome 1. This should, of course, have read chromosome 6. We apologize for any confusion this might have ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0894-450

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24

Digitale Medien

Mitochondrial diabetes revisited (1994)

Ballinger, Scott W. ; Shoffner, John M. ; Gebhart, Susan ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 458-459

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir—In the inaugural issue of Nature Genetics, we demonstrated that adult-onset diabetes mellitus (type II or DM) together with deafness can be caused by a 10.4 kilobase maternally transmitted mitochondrial DNA (mtDNA) deletion1. Subsequently, maternally-transmitted DM and deafness has been ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0894-458

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25

Digitale Medien

Bipolar disorder and linkage to Xq28 (1994)

Gershon, Elliot S. ; Goldin, Lynn R.

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 461-462

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — Although a letter by our colleagues Bochetta et al.2 is entitled “Is bipolar disorder linked to Xq28?”, no statistical evidence on linkage is presented. A Table is offered of G6PD deficiency in psychiatric patients in Sardinia, where males with bipolar disorder have 20.8% ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0894-461b

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26

Digitale Medien

Analysis of the p16 gene ( CDKN2 ) as a candidate for the chromosome 9p melanoma susceptibility locus (1994)

Kamb, A. ; Shattuck-Eidens, D. ; Eeles, R. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 22-26

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] A locus for familial melanoma, MLM, has been mapped within the same interval on chromosome 9p21 as the gene for a putative cell cycle regulator, p16INK4 (CDKN2) MTS1. This gene is homozygously deleted from many tumour cell lines including melanomas, suggesting that CDKN2 is a good candidate for ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-22

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27

Digitale Medien

Neomorphic agouti mutations in obese yellow mice (1994)

Duhl, David M. J. ; Vrieling, Harry ; Miller, Kimberly A. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 59-65

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Several dominant mutations of the mouse agouti coat colour gene have pleiotropic effects that include obesity and a yellow coat. The Ay allele is caused by a large deletion that affects the expression of several contiguous genes. We show that three other obesity-associated agouti mutations, Aiy, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-59

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28

Digitale Medien

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal (1994)

Bardoni, B. ; Zanaria, E. ; Guioli, S. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 497-501

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Male to female sex reversal has been observed in individuals with duplications of the short arm of the X chromosome. Here we demonstrate that sex reversal results from the presence of two active copies of an Xp locus rather than from its rearrangement and that alterations at this locus constitute ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0894-497

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29

Digitale Medien

Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome (1994)

Mochizuki, Toshio ; Lemmink, Henny H. ; Mariyama, Mariko ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 77-82

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Alport syndrome (AS) is an hereditary disease of basement membranes characterized by progressive renal failure and deafness. Changes in the glomerular basement membrane (GBM) in AS suggest that the type IV collagen matrix, the major structural component of GBM, is disrupted. We recently isolated ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-77

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An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21 (1994)

Aaltonen, Johanna ; Björses, Petra ; Sandkuijl, Lodewijk ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 83-87

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Autoimmune polyglandular disease type I (APECED) is an autosomal recessive autoimmune disease characterized by a variable combination of the failure of the endocrine glands. The pathogenesis of this unique autoimmune disease is unknown; unlike many other autoimmune diseases, APECED does not show ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-83

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Genome centre comes together (1994)

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 115-116

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Just off Convent Drive in Bethesda, Maryland, a sort of spiritual transformation is taking place in Building 49 on the sprawling campus of the National Institutes of Health (NIH) that has nothing to do with the well-publicized religious beliefs of one of its best-known inhabitants, Dr Francis ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0694-115

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The rumpshaker mutation in spastic paraplegia (1994)

Kobayashi, Hisashi ; Hoffman, Eric P. ; Marks, Harold G.

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 351-352

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — X-linked recessive spastic paraplegia (SPG) is a rare neuro-degenerative disorder characterized by progressive weakness and spasticity of the lower extremities. Two distinct loci for X-linked SPG, SPG1 and SPG2, have been mapped to Xq28 and Xq21–q22, respectively1,2. SPG1 is ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0794-351

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The distribution of CpG islands in mammalian chromosomes (1994)

Craig, Jeffrey M. ; Bickmore, Wendy A.

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 376-382

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Using fluorescent in situ suppression hybridization to metaphase chromosomes, we have directly shown that CpG islands are predominantly found in the early replicating (R band) regions of the genome. Conversely, late replicating (G band) DNA is sparsely populated with islands. The very highest ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0794-376

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Chromosome–specific microsatellite sets for fluorescence–based, semi–automated genome mapping (1994)

Reed, P. W. ; Davies, J. L. ; Copeman, J. B. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 390-395

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] To facilitate large–scale genetic mapping of the human genome, we have developed chromosome–specific sets of microsatellite marker loci suitable for use with a fluorescence–based automated DNA fragment analyser. We present 254 dinucleotide repeat marker loci (80% from the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0794-390

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Epigenetic lesions at the H19 locus in Wilms' tumour patients (1994)

Moulton, Thomas ; Crenshaw, Taria ; Hao, Yue ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 440-447

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] To test the potential role of H19 as a tumour suppressor gene we have examined its expression and DNA methylation in Wilms' tumours (WTs). In most WTs (18/25), H19 RNA was reduced at least 20–fold from fetal kidney levels. Of the expression–negative tumours ten retained 11p15.5 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0794-440

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A genetic map of the mouse with 4,006 simple sequence length polymorphisms (1994)

Dietrich, William F. ; Miller, Joyce C. ; Steen, Robert G. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 220-245

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have constructed a genetic map of the mouse genome containing 4,006 simple sequence length polymorphims (SSLPs). The map provides an average spacing of 0.35 centiMorgans (cM) between markers, corresponding to about 750 kb. Approximately 90% of the genome lies within 1.1 cM of a marker and 99% ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0694supp-220

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The 1993–94 Généthon human genetic linkage map (1994)

Gyapay, Gabor ; Morissette, Jean ; Vignal, Alain ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 246-339

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In 1992, we described a second-generation genetic linkage map of the human genome. Using 1,267 new microsatellite markers, we now present a new genetic linkage map containing a total of 2,066 (AC)n short tandem repeats, 60% of which show a heterozygosity of over 0.7. Statistical linkage analysis ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0694supp-246

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Growing triplet repeats (1994)

Lindblad, K. ; Zander, C. ; Schalling, M. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 124-124

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — The discovery of expanding CAG and CGG repeats in several inherited psychomotor disorders has provided a molecular explanation of the phenomena of anticipation and other unusual inheritance patterns1. Trinucleotide expansions have been identified in seven disorders including ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0694-124

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Prime suspect for cystic kidneys (1994)

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 341-342

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The number of disease genes on the most wanted list has lost another notable member. And not before time. For the past ten years, there has been an intensive international effort to find the gene responsible for autosomal dominant (or adult) polycystic kidney disease (ADPKD) which has nevertheless ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0794-341

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Gene therapy for cholesterol (1994)

Brown, Michael S. ; Goldstein, Joseph L. ; Havel, Richard J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 349-350

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — In view of the recent interest in liver-targeted gene therapy of familial hypercholesterolaemia (FH), as described in the April issue of Nature Genetics by James Wilson and colleagues1, and the likelihood that additional experiments will be performed, we wish to propose minimal criteria ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0794-349

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Inactivation of E2a in recombinant adenoviruses improves the prospect for gene therapy in cystic fibrosis (1994)

Yang, Yiping ; Nunes, Frederick A. ; Berencsi, Klara ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 362-369

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Although first generation recombinant adenoviruses, deleted of sequences spanning E1a and E1b, have been useful for in vivo applications of gene therapy, expression of the recombinant gene has been transient and often associated with the development of inflammation. We show that with first ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0794-362

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Human haploinsufficiency : one for sorrow, two for joy (1994)

Fisher, Elizabeth ; Scambler, Peter

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 5-7

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Abnormal gene dosage is a common cause of spontaneous abortion and human birth defects. The best known examples are caused by chromosomal trisomy — such as Down syndrome (trisomy 21) — in which the precise effect of increased dosage on the development of the human embryo is difficult to ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0594-5

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Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12 (1994)

Engle, Elizabeth C. ; Kunkel, Louis M. ; Specht, Linda A. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 69-73

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Congenital Fibrosis of the Extraocular Muscles (CFEOM) is an autosomal dominant, ocular disorder characterized by congenital, nonprogressive, bilateral ptosis and external ophthalmoplegia. The pathophysiology of this disorder is unknown and it is unclear if it has a primary neurogenic or myopathic ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0594-69

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Mutations of the VHL tumour suppressor gene in renal carcinoma (1994)

Gnarra, J.R. ; Tory, K. ; Weng, Y. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 85-90

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Multiple, bilateral renal carcinomas are a frequent occurrence in von Hippel–Lindau (VHL) disease. To elucidate the aetiological role of the VHL gene in human kidney tumorigenesis, localized and advanced tumours from 110 patients with sporadic renal carcinoma were analysed for VHL mutations ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0594-85

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Corrigendum: Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31–33 (1994)

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 113-113

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] T. Toda, M. Segawa, Y. Nomura, I. Nonaka, K. Masuda, T. Ishihara, M. Sakai, I. Tomita, Y. Origuchi, K. Ohno, N. Misugi, Y. Sasaki, K. Takada, M. Kawai, K. Otani, T. Murakami, K. Saito, Y. Fukuyama, T. Shimizu, I. Kanazawa & Y. Nakamura Nature Genetics 5, 283–286 (1993) The authors wish ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0594-113a

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Simple purification of human chromosomes to homogeneity using muntjac hybrid cells (1994)

Lee, Jae-Yong ; Koi, Minoru ; Stanbridge, Eric J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 29-33

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Chromosome sorting from hybrid cells offers enormous advantages for gene mapping and cloning, but purification of most chromosomes has been largely hindered by their similarity in size to other chromosomes. We have developed a novel cell line and strategy that allows simple, mass purification of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0594-29

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Genomic sequence sampling: a strategy for high resolution sequence–based physical mapping of complex genomes (1994)

Smith, Michael W. ; Holmsen, Anita L. ; Wei, Yalin H. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 40-47

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We present a simple and efficient method for constructing high resolution physical maps of large regions of genomic DNA based upon sampled sequencing. The physical map is constructed by ordering high density cosmid contigs and determining a sequence fragment from each end of every clone. The ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0594-40

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Developmental changes in methylation of spermatogenesis–specific genes include reprogramming in the epididymis (1994)

Ariel, Mira ; Cedar, Howard ; McCarrey, John

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 59-63

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have determined the status of DNA methylation at specific sites in three spermatogenesis–specific genes, Pgk–2, ApoA1 and Oct–3/4, throughout the development and differentiation of male germ cells in the mouse. We observed a specific demethylation event in the Pgk–2 gene ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0594-59

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Apolipoprotein E4 allele in a population–based study of early–onset Alzheimer's disease (1994)

van Duijn, Cornelia M. ; de Knijff, Peter ; Cruts, Marc ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 74-78

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Several studies have reported an association of the apolipoprotein E allele ε4 (APOE*4) to familial and sporadic late-onset Alzheimer's disease (LOAD). Here we report on the relationship between APOE*4 and early-onset Alzheimer's disease (EOAD) in a Dutch population-based study. The ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0594-74

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Altered imprinting in lung cancer (1994)

Suzuki, Hiroko ; Ueda, Ryuzo ; Takahashi, Toshitada ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 332-333

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — Genomic imprinting is defined as a gamete-specific modification causing differential expression of the two alleles of a gene in somatic cells. While paternal allele-specific expression was recently identified for the insulin-like growth factor 2 gene (IGF2) on 11pl5 (refs l–4), ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0494-332

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A mutation in the Ter gene causing increased susceptibility to testicular teratomas maps to mouse chromosome 18 (1994)

Asada, Yoshinobu ; Varnum, Don S. ; Frankel, Wayne N. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 363-368

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Little is known about inherited susceptibility to spontaneous germ cells tumours in humans or other species. The Ter mutation in laboratory mice is novel in that it acts codominantly to reduce germ cell numbers on many inbred strain backgrounds and to enhance dramatically inherited predisposition ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0494-363

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Genetic steps in colorectal cancer (1994)

Bodmer, Walter ; Bishop, Tim ; Karran, Peter

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 217-219

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Each cancer is the result of an independent evolutionary process at the somatic cell level, involving the usual mechanisms of mutation and selection but without the intervention of a sexual process. The accumulation of the successive mutations that result in a cancer must take place step-wise, with ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0394-217

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Purification of CpG islands using a methylated DNA binding column (1994)

Cross, Sally H. ; Charlton, Jillian A. ; Nan, Xinsheng ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 236-244

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] CpG islands are short stretches of DNA containing a high density of non–methylated CpG dinucleotides, predominantly associated with coding regions. We have constructed an affinity matrix that contains the methyl–CpG binding domain from the rat chromosomal protein MeCP2, attached to a ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0394-236

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A complex bilateral polysyndactyly disease locus maps to chromosome 7q36 (1994)

Tsukurov, Olga ; Boehmer, Annemie ; Flynn, Jack ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 282-286

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We demonstrate that the gene responsible for a congenital limb deformity (polysyndactyly) maps to chromosome 7q36 in a large family. Pre– and postaxial anomalies of the extremities are inherited in this family as an autosomal dominant trait. The disease locus is closely linked to D7S550 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0394-282

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Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31–32 in three European families (1994)

Fontaine, B. ; Vale-Santos, J. ; Jurkat-Rott, K. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 267-272

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Hypokalaemic periodic paralysis (HypoPP) is an autosomal dominant muscle disease thought to arise from an abnormal function of ion channels. Performing a genome–wide search using polymorphic dinucleotide repeats, we have localized the HypoPP locus in three families of different geographic ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0394-267

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Cystinuria defect expresses itself (1994)

Wright, Ernest M.

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 328-329

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Cystinuria, a common inherited disorder, affects about 1 in 15,000 people in the United States and 1 in 2,000 in Europe. Cystinuria is caused by a renal cystine transport defect; each day the kidney filters 180 litres of plasma, and excretes 1.5 litres of amino-acid-free urine. A defect in the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0494-328

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Proteolipid protein gene dosage effect in Pelizaeus–Merzbacher disease (1994)

Ellis, David ; Malcolm, Sue

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 333-334

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder affecting the central nervous system (CNS), often attributable to mutations of the X-linked proteolipid protein (PLP) gene. We have found two cases where the affected boys have a duplication of PLP, suggesting that the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0494-333

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Digitale Medien

Corrigendum: A gene for Stargardt's disease ( fundus flavimaculatus ) maps to the short arm of chromosome 1 (1994)

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 214-214

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] J. Kaplan, S. Gerber, D. Larget-Piet, J.-M. Rozet, H. Dollnis, J.-L. Dufier, S. Odent, A. Postel-Vinay, N. Janin, M.-L. Briard, J. Fr£zal & A. Munnich Nature Genetics 5, 308–311 (1993) An incorrect version of Fig. 3 appeared in this paper. The correct figure is reproduced ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0294-214b

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Allele specificity of DNA replication timing in the Angelman/Prader–Willi syndrome imprinted chromosomal region (1994)

Knoll, Joan H.M. ; Cheng, Sou-De ; Lalande, Marc

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 41-46

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] DNA replication within chromosome 15q11–q13, a region subject to genomic imprinting, was examined by fluorescence in situ hybridization. Asynchronous replication between homologues was observed in cells from normal individuals and in Prader–Willi (PWS) and Angelman syndrome (AS) ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0194-41

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Digitale Medien

Epidermal disease: faulty keratin filaments take their toll (1994)

Compton, John G.

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 6-7

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The underlying defects of more and more human diseases are being discovered using the powerful tools of molecular genetics. While these discoveries fuel our hopes for better treatments and eventual cures, their most immediate impact is often the valuable, often revealing, insight into cell and ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0194-6

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The gene for achondroplasia maps to the telomeric region of chromosome 4p (1994)

Velinov, Milen ; Slaugenhaupt, Susan A. ; Stoilov, Ivaylo ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 314-317

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Achondroplasia is the most common type of genetic dwarfism. It is characterized by disproportionate short stature and other skeletal anomalies resulting from a defect in the maturation of the chondrocytes in the growth plate of the cartilage. We have now mapped the achondroplasia gene near the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0394-314

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62

Digitale Medien

Simple repeat DNA is not replicated simply (1994)

Richards, Robert I. ; Sutherland, Grant R.

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 114-116

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Repeat sequences in complex genomes have had a checkered history. Before the introduction of recombinant DNA technology they were one of the few accessible and definable components of the genome. Although their function has been elusive, repeat sequences have become invaluable (by virtue of repeat ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0294-114

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Digitale Medien

Editorial Corrigendum (1994)

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 309-309

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Last month's editorial neglected to mention that Syd Mandelbaum, in association with Peter Kurth, arranged for Dr Mark Stoneking to analyse hair samples thought to be from the late Anna ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-309b

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64

Digitale Medien

New dimensions in macular dystrophies (1994)

Humphries, Peter ; Kenna, Paul ; Farrar, G. Jane

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 315-317

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The human retina is a delicate organ carrying between 150–200 million specialized neurons — the photo-receptors. Degenerative diseases of the retina and subretinal tissues, which may lead either directly or indirectly to photoreceptor cell death, are exceedingly prevalent and constitute ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-315

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Digitale Medien

Dp71 can restore the dystrophin-associated glycoprotein complex in muscle but fails to prevent dystrophy (1994)

Cox, Gregory A. ; Sunada, Yoshihide ; Campbell, Kevin P. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 333-339

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Two lines of transgenic mdx mice have been generated that express a 71 kD non-muscle isoform of dystrophin (Dp71) in skeletal muscle. This isoform contains the cysteine-rich and Oterminal domains of dystrophin, but lacks the N-terminal actin-binding and central spectrin-like repeat domains. Dp71 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-333

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Digitale Medien

Exogenous Dp71 restores the levels of dystrophin associated proteins but does not alleviate muscle damage in mdx mice (1994)

Greenberg, David S. ; Sunada, Yoshihide ; Campbell, Kevin P. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 340-344

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Dp71 is a non-muscle product of the Duchenne muscular dystrophy gene. It consists of the cysteine-rich and C-terminal domains of dystrophin. We have generated transgenic mdx mice which do not have dystrophin but express Dp71 in their muscle. In these mice, Dp71 was localized to the plasma membrane ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-340

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Digitale Medien

Mapping a gene for Noonan syndrome to the long arm of chromosome 12 (1994)

Jamieson, C. Ruth ; van der Burgt, Ineke ; Brady, Angela F. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 357-360

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Noonan syndrome is characterized by typical facies, short stature and congenital cardiac defects. Approximately half of all cases are sporadic, but autosomal dominant inheritance with variable expression is well established. We have performed a genome-wide linkage analysis in a large Dutch kindred ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-357

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Digitale Medien

Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis (1994)

Houwen, Roderick H. J. ; Baharloo, Siamak ; Blankenship, Kathleen ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 380-386

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] It is now feasible to map disease genes by screening the genome for linkage disequilibrium between the disease and marker alleles. This report presents the first application of this approach for a previously unmapped locus. A gene for benign recurrent intrahepatic cholestasis (BRIC) was mapped to ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-380

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Digitale Medien

Erratum: Human artificial episomal chromosomes for cloning large DNA fragments in human cells (1994)

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 410-410

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Tian-Qiang Sun, David A. Fenstermacher & Jean-Michel H. Vos Nature Genetics 8, 33–41 (1994) In Fig. 2a, The poor contrast of the photograph obscured the visibility of the HAEC insert bands. An improved representation is shown ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-410a

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Digitale Medien

Erratum: Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene (1994)

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 203-203

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Lin Zhang, Esther P. Leeflang, Jian Yu & Norman Arnheim Nature Genetics 7, 531–535 Figures 2 and 3 were inadvertantly transposed in this paper; the legends were correct, as published. Also, hi the last row (Total) in Table 2, the last three digits (1) on the right hand side should be in ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1094-203c

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Digitale Medien

Predicting the future (1994)

Schmitt, Karin ; Goodfellow, P. N.

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 219-219

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Predicting the future is simple: within a year the genetic map of the mouse will contain over 6,000 mapped loci and the human map will contain at least 5,000 loci. Our confidence is based on two publications in this special issue of Nature Genetics, which present the most recent reports from Jean ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0694supp-219

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Digitale Medien

Atopy and Fc receptors: mutation is the message? (1994)

Ravetch, Jeffrey V.

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 117-118

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The atopic diseases, which include allergy, asthma, atopic dermatititis (or eczema) and allergic rhinitis, together constitute one of the largest group of clinical disorders requiring medical intervention. In the United Kingdom alone, atopy gives rise to 3–5 million cases and as many as 2,000 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0694-117

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Digitale Medien

FRAXAC2 instability (1994)

Mornet, E. ; Chateau, C. ; Taillandier, A. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 122-123

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — The fragile X locus locus is flanked by two CA repeat-loci, FRAXAC1 and FRAXA C2, 10 kilobases from the expanded (CGG)n repeat, on the centromeric and telomeric sides, respectively2. On the basis of polymorphisms exhibited by these CA repeats, we and others6,8,9 have shown that some ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0694-122b

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Digitale Medien

Italy's Telethon on target (1994)

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 309-309

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In the early 1960s, an unusual family from Virginia came to the attention of two physicians, Alan Emery and F.E. Dreifuss. The family suffered from muscular dystrophy, but although the disorder clearly displayed an X-linked mode of inheritance, it was noticeably less severe than the more common, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-309a

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Digitale Medien

Manifestations of microphthalmia (1994)

Jackson, Ian J. ; Raymond, Sophie

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 209-210

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] It is often the ultimate goal to reduce the functional analysis, for example, of a protein to an in vim? assay. Putting proteins in a real-life, developmental situation is a much more rigorous assay, with much more complex results. Readers should need no reminder of the power of genetics to dissect ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1194-209

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Reply to : Age of the ΔF508 cystic fibrosis mutation (1994)

Estivill, Xavier ; Morral, Núria ; Bertranpetit, Jaume

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 216-218

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] IN REPLY — The use of variation at microsatellite markers to trace the evolution of a disease mutation has no precedent in molecular population genetics. Thus, we are dealing with a new situation which may be difficult to understand and which will benefit from further experience with other ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1194-216b

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Digitale Medien

Xq–Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype (1994)

Lahn, Bruce T. ; Ma, Nancy ; Breg, W. Roy ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 243-250

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The critical importance of dosage compensation is underscored by a novel human syndrome (“XYXq syndrome”) in which we have detected partial X disomy, demonstrated supernormal gene expression resulting from the absence of X inactivation, and correlated this overexpression with its ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1194-243

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A second locus for Marfan syndrome maps to chromosome 3p24.2–p25 (1994)

Collod, Gwenaëlle ; Babron, Marie-Claude ; Jondeau, Guillaume ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 264-268

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Marfan syndrome (MFS) is an autosomal dominant connective-tissue disorder characterized by skeletal, ocular and cardiovascular defects of highly variable expressivity. The diagnosis relies solely on clinical criteria requiring anomalies in at least two systems. By excluding the chromosome 15 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1194-264

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79

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Frequent somatic mutations and homozygous deletions of the p16 ( MTS1 ) gene in pancreatic adenocarcinoma (1994)

Caldas, Carlos ; Hahn, Stephan A. ; da Costa, Luis T. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 27-32

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The MTS1 gene on chromosome 9p21 encodes the p16 inhibitor of cyclinD/Cdk-4 complexes, and is deleted or mutated in a variety of tumour types. We found allelic deletions of 9p21–p22 in 85% of pancreatic adenocarcinomas. Analysis of MTS1 in pancreatic carcinomas (27 xenografts and 10 cell ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-27

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Human artificial episomal chromosomes for cloning large DNA fragments in human cells (1994)

Sun, Tian-Qiang ; Fenstermacher, David A. ; Vos, Jean-Michel H.

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 33-41

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Thema: Biologie , Medizin

Notizen: [Auszug] We have developed a human artificial episomal chromosome (HAEC) system, based on the latent replication origin of the large herpes Epstein-Barr virus, for the propagation and stable maintenance of DNA as circular minichromosomes in human cells. Individual HAECs carried human genomic inserts ranging ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-33

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Length of uninterrupted CGG repeats determines instability in the FMR1 gene (1994)

Eichler, Evan E. ; Holden, Jeanette J.A. ; Popovich, Bradley W. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 88-94

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Analysis of 84 human X chromosomes for the presence of interrupting AGG trinucleotides within the CGG repeat tract of the FMR1 gene revealed that most alleles possess two interspersed AGGs and that the longest tract of uninterrupted CGG repeats is usually found at the 3′ end. Variation in the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-88

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82

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Phenotypic diversity, allelic series and modifier genes (1994)

Romeo, Giovanni ; McKusick, Victor A.

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 451-453

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Twenty-one years ago, the terms phenotypic diversity (PD) and allelic series (AS) were put forward to describe disease phenotypes that on clinical grounds might appear to be caused by different genes, whereas the genetic and/or biochemical evidence available at the time suggested they were instead ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0894-451

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83

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CNTF in the embryo (1994)

Wright, A. F. ; Carothers, A. D.

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 460-460

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir—We would like to point out that in the article on null mutations in the human CNTF gene by R. Takahashi et all there is a small but statistically significant deficit in the number of CNTF null homozygotes, which the authors did not refer to. The expected number of null homozygotes (M/M) ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0894-460a

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84

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The murine Xe169 gene escapes X–inactivation like its human homologue (1994)

Wu, Jingshi ; Salido, Eduardo C. ; Yen, Pauline H. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 491-496

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Among a number of genes that escape X–chromosome inactivation in humans, three have been evaluated in mice and unexpectedly all three are subject to X–inactivation. We report here the cloning and expression studies of a novel mouse gene, Xe169, and show that it escapes ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0894-491

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Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region (1994)

Sutcliffe, James S. ; Nakao, Mitsuyoshi ; Christian, Susan ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 52-58

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Thema: Biologie , Medizin

Notizen: [Auszug] To determine the molecular basis of Prader-Willi syndrome (PWS) and Angelman syndrome (AS), we have isolated new transcripts from chromosome 15q11–q13. Two novel transcripts located within 300 kilobases telomeric to the small nuclear ribonucleoprotein-associated polypeptide N gene (SNRPN) ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-52

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Methylation of the oestrogen receptor CpG island links ageing and neoplasia in human colon (1994)

Issa, Jean-Pierre J. ; Ottaviano, Yvonne L. ; Celano, Paul ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 536-540

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We report that CpG island methylation, an epigenetic modification of DNA known to correlate closely with silencing of gene transcription, appears in the oestrogen receptor (ER) gene in a subpopulation of cells which increases as a direct function of age in human colonic mucosa. This same ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0894-536

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87

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Erratum: The distribution of CpG islands in mammalian chromosomes (1994)

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 551-551

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Jeffrey M. Craig & Wendy A. Bickmore Nature Genetics 7, 376–382 (1994) Figs 3 and 4 were inadvertanly transposed in this paper; the legends were correct, as ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0894-551b

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88

Digitale Medien

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome (1994)

Reardon, William ; Winter, Robin M. ; Rutland, Paul ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 98-103

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Crouzon syndrome is an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis) and maps to chromosome 10q25–q26. We now present evidence that mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause Crouzon syndrome. We found SSCP ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-98

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89

Digitale Medien

Are human genes risk factors for AIDS? (1994)

Louie, Leslie G.

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 456-457

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] It takes only 2–3 months from initial infection with the human immunodeficiency virus type 1 (HIV-1) for anti-HIV-1 antibodies and perhaps a flu-like illness to appear1, but the onset of more severe clinical manifestations differs remarkably. Some individuals may die within one year of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0894-456

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90

Digitale Medien

Glycine receptor β–subunit gene mutation in spastic mouse associated with LINE–1 element insertion (1994)

Kingsmore, Stephen F. ; Giros, Bruno ; Suh, David ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 136-142

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Congenital myoclonus is a widespread neurologic disorder characterized by hyperexcitability, muscular spasticity and myoclonus associated with marked reduction in neural glycine binding sites. The recessive mouse mutation spastic (spa) is a prototype of inherited myoclonus. Here we show that ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0694-136

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91

Digitale Medien

Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease (1994)

Corder, E. H. ; Saunders, A. M. ; Risch, N. J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 180-184

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Gene dosage of the apolipoprotein E (APOE) ε4 allele is a major risk factor for familial Alzheimer disease (AD) of late onset (after age 60). Here we studied a large series of 115 AD case subjects and 243 controls as well as 150 affected and 197 unaffected members of 66 AD families. Our data ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0694-180

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92

Digitale Medien

Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification (1994)

Goyette, Philippe ; Sumner, James S. ; Milos, Renate ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 195-200

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Methylenetetrahydrofolate reductase (MTHFR) catalyses the reduction of methylenetetrahydrofolate to methyltetrahydrofolate, a cofactor for homocysteine methylation to methionine. MTHFR deficiency, an autosomal recessive disorder, results in homocysteinemia. Using degenerate oligonucleotides based ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0694-195

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93

Digitale Medien

Corrigendum: Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map (1994)

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 215-215

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] T.Cox Matise, M. Perlin & A. Chakravarti Nature Genetics 6, 384–390 (1994) Information about MultiMap can be obtained from the following revised e-mail addresses: aravinda@chimera.gene.cwru.edu or ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0694-215b

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94

Digitale Medien

Bardet–Biedl syndrome is linked to DNA markers on chromosome 11 q and is genetically heterogeneous (1994)

Leppert, Mark ; Baird, Lisa ; Anderson, Kent L. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 108-112

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Bardet–Biedl syndrome (BBS) is an uncommon autosomal recessive condition characterized by mental retardation, post–axial polydactylia, obesity and pigmentary retinopathy. We performed linkage analysis in 31 multiplex BBS families and report significant linkage with two markers on ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0594-108

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95

Digitale Medien

Erratum: Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm (1994)

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 113-113

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Håkan Telenius, Berry Kremer, Y. Paul Goldberg, Jane Theilmann, Susan E. Andrew, Jutta Zeisler, Shelin Adam, Cheryl Greenberg, Elizabeth J. Ives, Lorne A. Clarke & Michael R. Hayden Nature Genetics 6, 409–413 (1994) Table 1 was inadvertantly omitted from the final layout of this ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0594-113b

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96

Digitale Medien

Antigen–specific human monoclonal antibodies from mice engineered with human Ig heavy and light chain YACs (1994)

Green, L.L. ; Hardy, M.C. ; Maynard-Currie, C.E. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 13-21

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We describe a strategy for producing human monoclonal antibodies in mice by introducing large segments of the human heavy and κ light chain loci contained on yeast artificial chromosomes into the mouse germline. Such mice produce a diverse repertoire of human heavy and light chains, and upon ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0594-13

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97

Digitale Medien

Alterations in the PITSLRE protein kinase gene complex on chromosome 1p36 in childhood neuroblastoma (1994)

Lahti, Jill M. ; Valentine, Marcus ; Xiang, Jialing ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 370-375

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] p58cdc2L1, a protein kinase implicated in apoptotic signaling, is one of eight separate kinases encoded by three tandemly duplicated and linked genes, which we have termed PITSLRE A, B and C. One allele of this complex on chromosome 1 was either deleted or translocated in each of 18 neuroblastoma ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0794-370

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98

Digitale Medien

X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene (1994)

Jouet, Monique ; Rosenthal, André ; Armstrong, Giles ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 402-407

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] X–linked hydrocephalus, spastic paraplegia type I and MASA syndrome are related disorders with loci in subchromosomal region Xq28. We have previously shown that X–linked hydrocephalus is caused by mutations in the gene for neural cell adhesion molecule L1 (L1CAM), an axonal glycoprotein ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0794-402

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99

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Highly homologous loci on the X and Y chromosomes are hot–spots for ectopic recombinations leading to XX maleness (1994)

Weil, Dominique ; Wang, Irène ; Dietrich, Alexander ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 414-419

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In 80% of XX males, maleness is due to the presence of Y–specific DNA including the SRY gene and results from an abnormal terminal X–Y interchange during paternal meiosis. Here we address the molecular basis of this ectopic recombination through the analysis of the X–Y junction in ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0794-414

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100

Digitale Medien

Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35 (1994)

Hentati, Afif ; Bejaoui, Khemissa ; Pericak-Vance, Margaret A. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 425-428

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Amyotrophic lateral sclerosis (ALS) usually presents as a sporadic disorder of motor neurons. However, familial forms of ALS have been described — autosomal dominant forms (ALS1, ALS3), clinically indistinguishable from the sporadic form, and autosomal recessive forms with early onset and ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0794-425

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