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 ...

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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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Protropin and Public Opinion (1994)

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 847-847

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] Protropin, Genentech's genetically engineered human growth hormone, has sprouted a big problem—a U.S. federal grand jury indictment charging a Minneapolis, MN physician, a Genentech marketing executive, and Caremark, Protropin's distributor, with engaging in a million-dollar prescription drug ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0994-847

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Environmentally Correct Biotechnology (1994)

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 850-850

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] “Biotechnology entails the harnessing of organisms or their components to undertake specific processes thatare, in principle, advantageous to society. There are many applications of biotechnology in fields as diverse as medicine, agriculture, industry, and resource recovery and ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0994-850

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Who's afraid of biotech consolidation? (1994)

Stone, David

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 858-859

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] Most observers broach the subject of consolidation in biotech in anxious and fatalistic terms, as if it were somehow like the coming of the apocalypse. Articles now fashionable quote pessimistic managers discussing their company' s latest Hobson's choice. And self-serious financial analysts advance ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0994-858

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Education and industry, Letter 2 (1994)

Madden, Dean

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 848-848

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] To the editor: Desmond Mascarenhas, in his article about science education and the biotechnology industry (Bio/Technology 12: 671-673, July), refers to Bernard Dixon's commentary on the Eurobarometer surveys (Bio/Technology 12:113, February). Mascarenhas suggests that the more the public knows ...

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URL: http://dx.doi.org/10.1038/nbt0994-848b

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BioChem Pharma's big push into diagnostics (1994)

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 854-855

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] NEW YORK—BioChem Pharma (BCP, Laval, Quebec) has been busy as of late. Its majority-owned subsidiary, BioChem ImmunoSystems, purchased most of the diagnostics business of Ares-Serono (Geneva) for $61 million. Also, BCP announced that it was planning to sell almost half of its 38 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0994-854

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Going public boosts executive compensation (1994)

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 860-860

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] NEW YORK—It pays for U.S. biotech companies to go public, at least as far as executive compensation goes. Indeed, biotech executives at the smaller U.S. public companies—a ranking that excludes the 20 public companies with the biggest market capitalizations—currently make annual ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0994-860

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RNA–Related Tools (1994)

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 929-929

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] RNA synthesis Cruachem (Glasgow, U.K.) offers isomerically pure 2′-O-Fpmp-protected phosphoramidites. Fpmp groups are stable under ammonolytic conditions used to cleave synthetic RNA from CPG. 2′-O-Fpmp RNA is stable to alkali and endonucleases and can be purified by HPLC and stored ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0994-929

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BST: Science and politics, Letter 1 (1994)

Collins, Ken

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 744-744

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] To the editor: Russ Hoyle' s article (Bio/Technology 12:570–571, June) on the U.S. Food and Drug Administration's (FDA, Rockville, MD) bovine somatotropin (BST) policy unwittingly strikes at the heart of the dilemma posed by the assessment of veterinary medicinal products and production ...

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URL: http://dx.doi.org/10.1038/nbt0894-744a

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Biotech's Role in Science Education (1994)

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 647-647

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] A widely quoted set of surveys conducted by the National Science Foundation indicate that a scant 7 percent of U.S. citizens are scientifically literate—in command of a basic vocabulary and grammar of scientific terms and concepts. A subsequent poll undertaken by the National Institutes of ...

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URL: http://dx.doi.org/10.1038/nbt0794-647

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Credit (1994)

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 649-649

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] In the article “Shopping for a Contract Research Organization” (Bio/Technology 12: 526–528, May), Figure 1 comes from the lecture notes of “Pharmaceutical Contract Research in the 1990's: A Global Overview” given by Dr. R. Graham Hughes in Bad Hamburg, Germany, on ...

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URL: http://dx.doi.org/10.1038/nbt0794-649b

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Efficient and Rapid Affinity Purification of Proteins Using Recombinant Fusion Proteases (1994)

Walker, Philip A. ; Leong, Louis E. -C. ; Ng, Patrick W. P. ; [weitere]

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 601-605

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ISSN: 1546-1696

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Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] In the affinity purification of recombinant fusion proteins, the rate-limiting step is usually the efficient proteolytic cleavage and removal of the affinity tail and the protease from the purified recombinant protein. We have developed a rapid, convenient and efficient method of affinity ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0694-601

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Protein Sequencing as a Tool in Clinical Trials (1994)

Zhao, Jin Dong ; Pramik, Mary Jean

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 627-628

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] Since the mid-1960s, amino acid sequencing has been an invaluable tool for identifying new proteins. Protein sequence data collection accelerated the pace of biotech research throughout the 1970s and 1980s by allowing researchers to search for sequence homology on computer databases. As a result, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0694-627

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Benificial Microalgae (1994)

Kun, Lee Yuan

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 707-707

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] The demand for additional food supplies, the need for more effective waste disposal, and the shortage of raw materials and energy sources have led people to search for viable solutions to these problems. One of the most promising is using unconventional microbial sources such as microalgae. These ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0794-707

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87

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New Products (1994)

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 717-717

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] Primer design RightPrimer from BioDisk Software (San Francisco, CA) evaluates all theoretically possible primers for a given sequence and makes selections based on user-specified parameters. It compares primers to a subset of the GenBank database selected by the user and computes a global score, a ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0794-717

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88

Digitale Medien

Legal Protection for Recombinant Proteins (1994)

Rzucidlo, Eugene C. ; Auth, Dorothy R.

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 713-715

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] It comes as a surprise to many biotech inventors that recombinant proteins are sometimes unpatentable. Generally, if a recombinant protein can be shown to be identical to a previously isolated naturally occurring protein, the U.S. Patent and Trademark Office (PTO, Washington, D.C.) will reject the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0794-713

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89

Digitale Medien

Search patents outside U.S. (1994)

Santer, Vivien

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 552-552

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] To the editor: I read with interest the cautionary article by Kathleen Madden Williams entitled “How to Avoid Patent Infringement” (Bio/Technology 12:297-298, March). Ms. Williams' caveat that “you can never be absolutely certain that all relevant patents have been ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0694-552a

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90

Digitale Medien

MGI Pharma hopes Salagen makes it profitable (1994)

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 560-561

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] FORT COLLINS, Colo.—Founded in 1979 as an agricultural biotechnology company, and reincarnated in 1987 as a pharmaceutical firm focusing on in-licensing compounds in late-stages of development, MGI Pharma (Minneapolis, MN) is finally poised to record its first profits. Indeed, the Food and ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0694-560

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91

Digitale Medien

Ordering Up Big MACs (1994)

Huxley, Clare ; Farr, Christine ; Gennaro, Maria Laura ; [weitere]

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 586-590

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] Both gene therapy and basic studies will need new vectors for the transfer of large fragments of mammalian ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0694-586

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92

Digitale Medien

Amyloid Plaque and Diabetes (1994)

Edgington, Stephen M.

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 591-594

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] New research suggests Alzheimer's disease and type II diabetes share a similar ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0694-591

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93

Digitale Medien

DNA Amplification Fingerprinting Using Arbitrary Mini-hairpin Oligonucleotide Primers (1994)

Caetano-Anollés, Gustavo ; Gresshoff, Peter M.

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 619-623

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] The enzymatic amplification of DNA directed by very short oligonucleotides of arbitrary sequence produces complex DNA profiles useful for genome analysis and identity testing. Mini-hairpins harboring a “core” arbitrary sequence at the 3′ terminus primed the amplification of a wide ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0694-619

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94

Digitale Medien

New Products (1994)

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 629-629

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] Lab dispenser The 505Dz/RL low-cost, microprocessor-controlled peristaltic dispenser from Watson-Marlow (Wilmington, MA) runs at 300 rpm for precise dosing at flow rates up to 3 liters per minute. It offers an accuracy to ±1% for 10 ml fills. It accepts autoclavable silicone tubing, and ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0694-629

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95

Digitale Medien

MedLine update (1994)

Manson, Lionel A. ; Morgan, Sherry ; Rodriguez, Carlos Ivan

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 432-433

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] To the editor: We wish to alert the readers of “Turning on Tumor-Fighting Cells” (Bio/Technology 11: 1117–1119, October) to a series of observations that are very relevant to the problem of lack of effectiveness of anti-tumor “killer cells” in the tumor-bearing host. ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0594-432c

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96

Digitale Medien

Errata (1994)

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 433-433

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] The last sentence of the first full paragraph of “New Approaches to Capillary Isoelectric Focusing of Proteins” (Bio/Technology 12: 409, April) should read “In addition, these methods are extremely accurate for determining an unknown protein's isoelectric ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0594-433b

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97

Digitale Medien

Sacrificing current profits for future gains (1994)

Kidd, George

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 444-445

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] Fiscal 1993 should have been a year of clinched teeth and white knuckles for executives in the agbiotech industry. After all, though the 16 agbiotech companies surveyed by Bio/Technology achieved aggregate sales of almost $410 million, they still lost a total of $153.7 million, or ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0594-444

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98

Digitale Medien

Expect success in phase III trials this year (1994)

Fradd, R. Brandon

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 451-451

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] Largely because of significant declines in last year's first quarter, biotech stocks ended 1993 down 15.3 percent overall, with the first tier down 10.9 percent, the second tier down 7.6 percent, and the third tier down 23.4 percent. The group performance continues to represent a mixture of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0594-451

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99

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Europe takes the lead in health-care reform (1994)

Greenacre, Martyn ; Grindley, June

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 456-457

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] Health-care reform. Among investors, executives, and industry analysts, it has become a buzzword for uncertainty about the future of the pharmaceutical and biotechnology industry in the U.S. Certainly, discussion of U.S. health-care reform is important to the continued success of the industry. The ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0594-456

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100

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The Emergence of Biotechnology in Israel (1994)

Hodgson, John

[s.l.] : Nature Publishing Company

Nature biotechnology 12 (1994), S. 480-486

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ISSN: 1546-1696

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Werkstoffwissenschaften, Fertigungsverfahren, Fertigung

Notizen: [Auszug] Is biotechnology in Israel being run as a nationalized industry for national ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/nbt0594-480

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