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Hide Summaries 1. The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm Anna Helgadottir, Gudmar Thorleifsson, Kristinn P Magnusson, Solveig Grétarsdottir, Valgerdur Steinthorsdottir, Andrei Manolescu, Gregory T Jones, Gabriel J E Rinkel, Jan D Blankensteijn, Antti Ronkainen, Juha E Jääskeläinen, Yoshiki Kyo, Guy M Lenk, Natzi Sakalihasan, Konstantinos Kostulas, Anders Gottsäter, Andrea Flex, Hreinn Stefansson, Torben Hansen, Gitte Andersen, Shantel Weinsheimer, Knut Borch-Johnsen, Torben Jorgensen, Svati H Shah, Arshed A Quyyumi, Christopher B Granger, Muredach P Reilly, Harland Austin, Allan I Levey, Viola Vaccarino, Ebba Palsdottir, G Bragi Walters, Thorbjorg Jonsdottir, Steinunn Snorradottir, Dana Magnusdottir, Gudmundur Gudmundsson, Robert E Ferrell, Sigurlaug Sveinbjornsdottir, Juha Hernesniemi, Mika Niemelä, Raymond Limet, Karl Andersen, Gunnar Sigurdsson, Rafn Benediktsson, Eric L G Verhoeven, Joep A W Teijink, Diederick E Grobbee, Daniel J Rader, David A Collier, Oluf Pedersen, Roberto Pola, Jan Hillert, Bengt Lindblad, Einar M Valdimarsson, Hulda B Magnadottir, Cisca Wijmenga, Gerard Tromp, Annette F Baas, Ynte M Ruigrok, Andre M van Rij, Helena Kuivaniemi, Janet T Powell, Stefan E Matthiasson, Jeffrey R Gulcher, Gudmundur Thorgeirsson, Augustine Kong, Unnur Thorsteinsdottir, Kari Stefansson
SUMMARY: Recently, two common sequence variants on 9p21, tagged by rs10757278-G and rs10811661-T, were reported to be associated with coronary artery disease (CAD) and type
CONTEXT: ...participants provided written informed consent. Type 2 diabetes groups. The Icelandic T2D study group was previously described. The Danish study population was from the Steno Diabetes Center in Copenhagen and from the Inter99...
Nature Genetics (06 Jan 2008) Letters
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2. Deficiency or inhibition of oxygen sensor Phd1 induces hypoxia tolerance by reprogramming basal metabolism Julián Aragonés, Martin Schneider, Katie Van Geyte, Peter Fraisl, Tom Dresselaers, Massimiliano Mazzone, Ruud Dirkx, Serena Zacchigna, Hélène Lemieux, Nam Ho Jeoung, Diether Lambrechts, Tammie Bishop, Peggy Lafuste, Antonio Diez-Juan, Sarah K Harten, Pieter Van Noten, Katrien De Bock, Carsten Willam, Marc Tjwa, Alexandra Grosfeld, Rachel Navet, Lieve Moons, Thierry Vandendriessche, Christophe Deroose, Bhathiya Wijeyekoon, Johan Nuyts, Benedicte Jordan, Robert Silasi-Mansat, Florea Lupu, Mieke Dewerchin, Chris Pugh, Phil Salmon, Luc Mortelmans, Bernard Gallez, Frans Gorus, Johan Buyse, Francis Sluse, Robert A Harris, Erich Gnaiger, Peter Hespel, Paul Van Hecke, Frans Schuit, Paul Van Veldhoven, Peter Ratcliffe, Myriam Baes, Patrick Maxwell, Peter Carmeliet
SUMMARY: HIF prolyl hydroxylases (PHD1–3) are oxygen sensors that regulate the stability of the hypoxia-inducible factors (HIFs) in an oxygen-dependent manner. Here, we show that
Nature Genetics (06 Jan 2008) Article
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3. Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus Deborah S Cunninghame Graham, Robert R Graham, Harinder Manku, Andrew K Wong, John C Whittaker, Patrick M Gaffney, Kathy L Moser, John D Rioux, David Altshuler, Timothy W Behrens, Timothy J Vyse
SUMMARY: Systemic lupus erythematosus (SLE) is a multisystem complex autoimmune disease of uncertain etiology (OMIM 152700). Over recent years a genetic component to SLE susceptibility
CONTEXT: ...the National Institutes of Allergy and Infectious Diseases (AI065687; AI067152) and from the National Institute of Diabetes and Digestive and Kidney Diseases (DK064869; DK062432). We appreciate the contribution to the genotyping from...
Nature Genetics 40, 83 - 89 (01 Jan 2008) Letters
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4. Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis Jonas Rosendahl, Heiko Witt, Richárd Szmola, Eesh Bhatia, Béla Ózsvári, Olfert Landt, Hans-Ulrich Schulz, Thomas M Gress, Roland Pfützer, Matthias Löhr, Peter Kovacs, Matthias Blüher, Michael Stumvoll, Gourdas Choudhuri, Péter Hegyi, René HM te Morsche, Joost PH Drenth, Kaspar Truninger, Milan Macek, Gero Puhl, Ulrike Witt, Hartmut Schmidt, Carsten Büning, Johann Ockenga, Andreas Kage, David Alexander Groneberg, Renate Nickel, Thomas Berg, Bertram Wiedenmann, Hans Bödeker, Volker Keim, Joachim Mössner, Niels Teich, Miklós Sahin-Tóth
SUMMARY: Chronic pancreatitis is a persistent inflammatory disease of the pancreas, in which the digestive protease trypsin has a fundamental pathogenetic role. Here we have
CONTEXT: ...disorder characterized by permanent destruction of the pancreatic parenchyma, leading to maldigestion and diabetes mellitus as a result of exocrine and endocrine insufficiency. Insights into the pathological mechanism of the disorder...
Nature Genetics 40, 78 - 82 (01 Jan 2008) Letters
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5. Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia Miklós Péterfy, Osnat Ben-Zeev, Hui Z Mao, Daphna Weissglas-Volkov, Bradley E Aouizerat, Clive R Pullinger, Philip H Frost, John P Kane, Mary J Malloy, Karen Reue, Päivi Pajukanta, Mark H Doolittle
SUMMARY: Hypertriglyceridemia is a hallmark of many disorders, including metabolic syndrome, diabetes, atherosclerosis and obesity. A well-known cause is the deficiency of lipoprotein lipase (LPL),
Nature Genetics 39, 1483 - 1487 (01 Dec 2007) Letters
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6. Rheumatoid arthritis association at 6q23 Wendy Thomson, Anne Barton, Xiayi Ke, Steve Eyre, Anne Hinks, John Bowes, Rachelle Donn, Deborah Symmons, Samantha Hider, Ian N Bruce, Anthony G Wilson, Ioanna Marinou, Ann Morgan, Paul Emery, Angela Carter, Sophia Steer, Lynne Hocking, David M Reid, Paul Wordsworth, Pille Harrison, David Strachan, Jane Worthington
SUMMARY: The Wellcome Trust Case Control Consortium (WTCCC) identified nine single SNPs putatively associated with rheumatoid arthritis at P = 1 &math; 10-5 - 5
CONTEXT: ...for a locus that was highlighted in a combined analysis of autoimmune diseases (rheumatoid arthritis, type 1 diabetes and inflammatory bowel disease) in the WTCCC study. A recent report has suggested that up to 20% of pseudogenes may...
Nature Genetics 39, 1431 - 1433 (01 Dec 2007) Brief Communications
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7. Risky business SUMMARY: Recent discoveries and improvements in technology have boosted the profile of 'personalized genomics'. But the demonstrated complexities of the genetics of common disease suggest caution—and
CONTEXT: ...Health Care: Opportunities, Pathways, Resources"; the announcement by deCODE Genetics of a test for type 2 diabetes risk as assessed by TCF7L2 genotype; and Nature's coverage of the remarkable story of Hugh Rienhoff, a physician who...
Nature Genetics 39, 1415 - 1415 (01 Dec 2007) Editorial
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8. High-maintenance proteins and hypertriglyceridemia Alan D Attie
SUMMARY: Lipoprotein lipase, the enzyme that hydrolyzes fatty acids from triglycerides carried by circulating lipoproteins, resides on the surface of the capillary endothelium. Analysis of a
CONTEXT: ...or hypertriglyceridemia (HTG). HTG is associated with high-carbohydrate diets, obesity, insulin resistance and diabetes, and it is a risk factor for premature heart disease. Genetic factors contribute to HTG—most prominently, to a...
Nature Genetics 39, 1424 - 1425 (01 Dec 2007) News and Views
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9. A gene harvest revealing the archeology and complexity of human disease Enrico Petretto, Edison T Liu, Timothy J Aitman
SUMMARY: An inflection point in genetics has been reached and was witnessed at the Genomics of Common Diseases meeting (http://www.nature.com/ng/meetings/genomics) co-sponsored by the Wellcome Trust, held
CONTEXT: ...coronary artery disease, atrial fibrillation, asthma, Crohn's disease, rheumatoid arthritis, type 1 and type 2 diabetes, obesity, prostate cancer, breast cancer and celiac disease) have indeed achieved this. The benchmark for...
Nature Genetics 39, 1299 - 1301 (01 Nov 2007) Meeting Report
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10. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants SUMMARY: We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis (AS), autoimmune thyroid diseas
CONTEXT: ...genome-wide set of nonsynonymous coding variants, an approach that has recently yielded new findings about type 1 diabetes and Crohn's disease and that has been proposed as an efficient complementary approach to whole-genome scans....
Nature Genetics 39, 1329 - 1337 (21 Oct 2007) Article
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