Literature DB >> 27927804

Obstacles to Translating Genotype-Phenotype Correlates in Metabolic Disease.

Anu Sharma1, Adrian Vella1.   

Abstract

Type 2 diabetes mellitus is a polygenic disease with a variable phenotype. Many genetic associations have been described; however, understanding their underlying pathophysiological role in Type 2 diabetes mellitus is important for development of future therapeutic targets. Here, we review the physiological mechanisms of diabetes-associated variants that affect glycemia. ©2017 Int. Union Physiol. Sci./Am. Physiol. Soc.

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Year:  2017        PMID： 27927804      PMCID： PMC5338594          DOI： 10.1152/physiol.00009.2016

Source DB:  PubMed          Journal:  Physiology (Bethesda)        ISSN： 1548-9221


  89 in total

1.  Lack of suppression of glucagon contributes to postprandial hyperglycemia in subjects with type 2 diabetes mellitus.

Authors:  P Shah; A Vella; A Basu; R Basu; W F Schwenk; R A Rizza
Journal:  J Clin Endocrinol Metab       Date:  2000-11       Impact factor: 5.958

2.  Alternative pathway of insulin signalling in mice with targeted disruption of the IRS-1 gene.

Authors:  E Araki; M A Lipes; M E Patti; J C Brüning; B Haag; R S Johnson; C R Kahn
Journal:  Nature       Date:  1994-11-10       Impact factor: 49.962

3.  Variation in PPARG is associated with longitudinal change in insulin resistance in Mexican Americans at risk for type 2 diabetes.

Authors:  Mary Helen Black; Jun Wu; Miwa Takayanagi; Nan Wang; Kent D Taylor; Talin Haritunians; Enrique Trigo; Jean M Lawrence; Richard M Watanabe; Thomas A Buchanan; Anny H Xiang
Journal:  J Clin Endocrinol Metab       Date:  2015-01-13       Impact factor: 5.958

4.  Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes.

Authors:  Cristen J Willer; Lori L Bonnycastle; Karen N Conneely; William L Duren; Anne U Jackson; Laura J Scott; Narisu Narisu; Peter S Chines; Andrew Skol; Heather M Stringham; John Petrie; Michael R Erdos; Amy J Swift; Sareena T Enloe; Andrew G Sprau; Eboni Smith; Maurine Tong; Kimberly F Doheny; Elizabeth W Pugh; Richard M Watanabe; Thomas A Buchanan; Timo T Valle; Richard N Bergman; Jaakko Tuomilehto; Karen L Mohlke; Francis S Collins; Michael Boehnke
Journal:  Diabetes       Date:  2007-01       Impact factor: 9.461

5.  Assessment of gastric emptying using a low fat meal: establishment of international control values.

Authors:  G Tougas; E Y Eaker; T L Abell; H Abrahamsson; M Boivin; J Chen; M P Hocking; E M Quigley; K L Koch; A Z Tokayer; V Stanghellini; Y Chen; J D Huizinga; J Rydén; I Bourgeois; R W McCallum
Journal:  Am J Gastroenterol       Date:  2000-06       Impact factor: 10.864

6.  PPARgamma and PPARdelta negatively regulate specific subsets of lipopolysaccharide and IFN-gamma target genes in macrophages.

Authors:  John S Welch; Mercedes Ricote; Taro E Akiyama; Frank J Gonzalez; Christopher K Glass
Journal:  Proc Natl Acad Sci U S A       Date:  2003-05-09       Impact factor: 11.205

7.  Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

Authors:  Richa Saxena; Benjamin F Voight; Valeriya Lyssenko; Noël P Burtt; Paul I W de Bakker; Hong Chen; Jeffrey J Roix; Sekar Kathiresan; Joel N Hirschhorn; Mark J Daly; Thomas E Hughes; Leif Groop; David Altshuler; Peter Almgren; Jose C Florez; Joanne Meyer; Kristin Ardlie; Kristina Bengtsson Boström; Bo Isomaa; Guillaume Lettre; Ulf Lindblad; Helen N Lyon; Olle Melander; Christopher Newton-Cheh; Peter Nilsson; Marju Orho-Melander; Lennart Råstam; Elizabeth K Speliotes; Marja-Riitta Taskinen; Tiinamaija Tuomi; Candace Guiducci; Anna Berglund; Joyce Carlson; Lauren Gianniny; Rachel Hackett; Liselotte Hall; Johan Holmkvist; Esa Laurila; Marketa Sjögren; Maria Sterner; Aarti Surti; Margareta Svensson; Malin Svensson; Ryan Tewhey; Brendan Blumenstiel; Melissa Parkin; Matthew Defelice; Rachel Barry; Wendy Brodeur; Jody Camarata; Nancy Chia; Mary Fava; John Gibbons; Bob Handsaker; Claire Healy; Kieu Nguyen; Casey Gates; Carrie Sougnez; Diane Gage; Marcia Nizzari; Stacey B Gabriel; Gung-Wei Chirn; Qicheng Ma; Hemang Parikh; Delwood Richardson; Darrell Ricke; Shaun Purcell
Journal:  Science       Date:  2007-04-26       Impact factor: 47.728

8.  Incretin and pancreatic hormone secretion in Caucasian non-diabetic carriers of the TCF7L2 rs7903146 risk T allele.

Authors:  K Færch; K Pilgaard; F K Knop; T Hansen; O Pedersen; T Jørgensen; J J Holst
Journal:  Diabetes Obes Metab       Date:  2012-09-09       Impact factor: 6.577

9.  β-cell mass and turnover in humans: effects of obesity and aging.

Authors:  Yoshifumi Saisho; Alexandra E Butler; Erica Manesso; David Elashoff; Robert A Rizza; Peter C Butler
Journal:  Diabetes Care       Date:  2012-08-08       Impact factor: 19.112

10.  Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabetes Mellitus 2 Type Cohort and Meta-Analysis.

Authors:  Ekaterina Alekseevna Sokolova; Irina Arkadievna Bondar; Olesya Yurievna Shabelnikova; Olga Vladimirovna Pyankova; Maxim Leonidovich Filipenko
Journal:  PLoS One       Date:  2015-05-08       Impact factor: 3.240
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  1 in total

Review 1.  Modeling human disease in rodents by CRISPR/Cas9 genome editing.

Authors:  Marie-Christine Birling; Yann Herault; Guillaume Pavlovic
Journal:  Mamm Genome       Date:  2017-07-04       Impact factor: 2.957
  1 in total

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