Search Results - "Collins, F. S"

Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk by Rees, M. G., Wincovitch, S., Schultz, J., Waterstradt, R., Beer, N. L., Baltrusch, S., Collins, F. S., Gloyn, A. L.

“…Aims/hypothesis Translation of genetic association signals into molecular mechanisms for diabetes has been slow. The glucokinase regulatory protein (GKRP; gene…”
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Shattuck lecture : Medical and societal consequences of the human genome project by COLLINS, F. S

“…Scientists funded by the Wellcome Trust at the Sanger Centre in Cambridge, England, along with other international partners, will produce the remainder…”
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Heterogeneity of riparian habitats mediates responses of terrestrial arthropods to a subsidy of Pacific salmon carcasses by Collins, S. F, Baxter, C. V

“…The transfer of nutrients and energy across habitat or ecosystem boundaries, or resource subsidies, is important in structuring ecological communities…”
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The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species by Savitsky, K, Sfez, S, Tagle, D A, Ziv, Y, Sartiel, A, Collins, F S, Shiloh, Y, Rotman, G

“…Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency radiation sensitivity, and cancer…”
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Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis by Hacia, Joseph G, Brody, Lawrence C, Chee, Mark S, Fodor, Stephen P.A, Collins, Francis S

“…The ability to scan a large gene rapidly and accurately for all possible heterozygous mutations in large numbers of patient samples will be critical for the…”
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Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome by Collins, Francis S, Eriksson, Maria, Brown, W. Ted, Gordon, Leslie B, Glynn, Michael W, Singer, Joel, Scott, Laura, Erdos, Michael R, Robbins, Christiane M, Moses, Tracy Y, Berglund, Peter, Dutra, Amalia, Pak, Evgenia, Durkin, Sandra, Csoka, Antonei B, Boehnke, Michael, Glover, Thomas W

“…Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by features reminiscent of marked premature ageing. Here, we present…”
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BRCA1 — Lots of Mutations, Lots of Dilemmas by Collins, Francis S

“…Breast cancer is the most common cancer among women in the Western world, with a cumulative lifetime risk of 1 in 8. 1 The two strongest risk factors are age…”
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Long-term trends in study duration of lakes and reservoirs over recent decades by Detmer, T. M., Collins, S. F., Wahl, D. H.

“…Owing to increased awareness of the value of long-term ecological studies, there have been numerous calls for long-term data. Natural lakes and reservoirs…”
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Variation in the resistin gene is associated with obesity and insulin-related phenotypes in Finnish subjects by CONNEELY, K. N, SILANDER, K, COLLINS, F. S, BOEHNKE, M, SCOTT, L. J, MOHLKE, K. L, LAZARIDIS, K. N, VALLE, T. T, TUOMILEBTO, J, BERGMAN, R. N, WATANABE, R. M, BUCHANAN, T. A

“…Resistin is a peptide hormone produced by adipocytes that is present at high levels in sera of obese mice and may be involved in glucose homeostasis through…”
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Positional cloning moves from perditional to traditional by Collins, Francis S

“…The technique of positional cloning has become a familiar component of modern human genetics research. After a halting start in the mid-1980s, the number of…”
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role for coding functional variants in HNF4A in type 2 diabetes susceptibility by Jafar-Mohammadi, B, Groves, C. J, Gjesing, A. P, Herrera, B. M, Winckler, W, Stringham, H. M, Morris, A. P, Lauritzen, T, Doney, A. S. F, Morris, A. D, Weedon, M. N, Swift, A. J, Kuusisto, J, Laakso, M, Altshuler, D, Hattersley, A. T, Collins, F. S, Boehnke, M, Hansen, T, Pedersen, O, Palmer, C. N. A, Frayling, T. M, Gloyn, A. L, McCarthy, M. I

“…Aims/hypothesis Rare mutations in the gene HNF4A, encoding the transcription factor hepatocyte nuclear factor 4α (HNF-4A), account for ~5% of cases of MODY and…”
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Mutational analysis using oligonucleotide microarrays by Hacia, Joseph G, Collins, Francis S

“…The development of inexpensive high throughput methods to identify individual DNA sequence differences is important to the future growth of medical genetics…”
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Molecular pathogenesis of the chromosome 16 inversion in the M4Eo subtype of acute myeloid leukemia by LIU, P. P, HAJRA, A, WIJMENGA, C, COLLINS, F. S

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Mutations in the human Jagged1 gene are responsible for Alagille syndrome by Oda, Takaya, Elkahloun, Abdel G, Pike, Brian L, Okajima, Kazuki, Krantz, Ian D, Genin, Anna, Piccoli, David A, Meltzer, Paul S, Spinner, Nancy B, Collins, Francis S, Chandrasekharappa, Settara C

“…Alagille syndrome (AGS) is an autosomal-dominant disorder characterized by intrahepatic cholestasis and abnormalities of heart, eye and vertebrae, as well as a…”
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MLH3 : a DNA mismatch repair gene associated with mammalian microsatellite instability by Collins, Francis S, Lipkin, Steven M, Wang, Victoria, Jacoby, Russell, Banerjee-Basu, Sharmila, Baxevanis, Andreas D, Lynch, Henry T, Elliott, Rosemary M

“…DNA mismatch repair is important because of its role in maintaining genomic integrity and its association with hereditary non-polyposis colon cancer (HNPCC)…”
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Stable overexpression of MEN1 suppresses tumorigenicity of RAS by KIM, Y. S, BURNS, A. L, GOLDSMITH, P. K, HEPPNER, C, PARK, S. Y, CHANDRASEKHARAPPA, S. C, COLLINS, F. S, SPIEGEL, A. M, MARX, S. J

“…Although there is indirect genetic evidence that MEN1, the gene for multiple endocrine neoplasia type 1, is a tumor suppressor gene, little is known about the…”
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Multiple endocrine neoplasia type 1: Clinical and genetic topics by MARX, S, SPIEGEL, A. M, SKARULIS, M. C, DOPPMAN, J. L, COLLINS, F. S, LIOTTA, L. A

“…Multiple endocrine neoplasia type 1 (MEN1) consists of benign, and sometimes malignant, tumors (often multiple in a tissue) of the parathyroids,…”
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A Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase by Savitsky, Kinneret, Bar-Shira, Anat, Gilad, Shlomit, Rotman, Galit, Ziv, Yael, Vanagaite, Lina, Tagle, Danilo A., Smith, Sara, Uziel, Tamar, Sfez, Sharon, Ashkenazi, Maya, Pecker, Iris, Frydman, Moshe, Harnik, Reli, Patanjali, Sankhavaram R., Simmons, Andrew, Clines, Gregory A., Sartiel, Adam, Gatti, Richard A., Chessa, Luciana, Sanal, Ozden, Lavin, Martin F., Jaspers, N. G. J., A. Malcolm R. Taylor, Arlett, Colin F., Miki, Toru, Weissman, Sherman M., Lovett, Michael, Collins, Francis S., Shiloh, Yosef

“…A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning on chromosome 11q22-23. AT is…”
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Genetics Moves Into the Medical Mainstream by Collins, Francis S, Guttmacher, Alan E

“…For most of history, medical genetics has been devoted largely to the study of relatively rare single-gene or chromosomal disorders. However, medical genetics…”
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The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals by Struewing, Jeffery P, Abeliovich, Dvorah, Peretz, Tamar, Avishai, Naaman, Kaback, Michael M, Collins, Francis S, Brody, Lawrence C

“…Since BRCA1, the first major gene responsible for inherited breast cancer, was cloned, more than 50 unique mutations have been detected in the germline of…”
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