Literature DB >> 19924209

Human genetics illuminates the paths to metabolic disease.

Stephen O'Rahilly1.   

Abstract

Metabolic diseases represent a growing threat to world-wide public health. In general, these disorders result from the interaction of heritable factors with environmental influences. Here, I will focus on two important metabolic disorders, namely type 2 diabetes and obesity, and explore the extent to which human molecular genetic research has illuminated our understanding of their underlying pathophysiological mechanisms.

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Year:  2009        PMID: 19924209     DOI: 10.1038/nature08532

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


  106 in total

1.  Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.

Authors:  Tom Hearn; Glenn L Renforth; Cosma Spalluto; Neil A Hanley; Karen Piper; Sarah Brickwood; Chris White; Vincent Connolly; James F N Taylor; Isabelle Russell-Eggitt; Dominque Bonneau; Mark Walker; David I Wilson
Journal:  Nat Genet       Date:  2002-04-08       Impact factor: 38.330

2.  A frameshift mutation in human MC4R is associated with a dominant form of obesity.

Authors:  C Vaisse; K Clement; B Guy-Grand; P Froguel
Journal:  Nat Genet       Date:  1998-10       Impact factor: 38.330

3.  A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).

Authors:  H Inoue; Y Tanizawa; J Wasson; P Behn; K Kalidas; E Bernal-Mizrachi; M Mueckler; H Marshall; H Donis-Keller; P Crock; D Rogers; M Mikuni; H Kumashiro; K Higashi; G Sobue; Y Oka; M A Permutt
Journal:  Nat Genet       Date:  1998-10       Impact factor: 38.330

4.  Heritability of type II (non-insulin-dependent) diabetes mellitus and abnormal glucose tolerance--a population-based twin study.

Authors:  P Poulsen; K O Kyvik; A Vaag; H Beck-Nielsen
Journal:  Diabetologia       Date:  1999-02       Impact factor: 10.122

Review 5.  Genetics and type 2 diabetes in youth.

Authors:  Olivia Gill-Carey; Andrew T Hattersley
Journal:  Pediatr Diabetes       Date:  2007-12       Impact factor: 4.866

6.  An obesity-associated FTO gene variant and increased energy intake in children.

Authors:  Joanne E Cecil; Roger Tavendale; Peter Watt; Marion M Hetherington; Colin N A Palmer
Journal:  N Engl J Med       Date:  2008-12-11       Impact factor: 91.245

7.  Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

Authors:  Anna L Gloyn; Ewan R Pearson; Jennifer F Antcliff; Peter Proks; G Jan Bruining; Annabelle S Slingerland; Neville Howard; Shubha Srinivasan; José M C L Silva; Janne Molnes; Emma L Edghill; Timothy M Frayling; I Karen Temple; Deborah Mackay; Julian P H Shield; Zdenek Sumnik; Adrian van Rhijn; Jerry K H Wales; Penelope Clark; Shaun Gorman; Javier Aisenberg; Sian Ellard; Pål R Njølstad; Frances M Ashcroft; Andrew T Hattersley
Journal:  N Engl J Med       Date:  2004-04-29       Impact factor: 91.245

8.  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

Review 9.  The fourth musketeer--from Alexandre Dumas to Claude Bernard.

Authors:  G M Reaven
Journal:  Diabetologia       Date:  1995-01       Impact factor: 10.122

10.  Variation in FTO contributes to childhood obesity and severe adult obesity.

Authors:  Christian Dina; David Meyre; Sophie Gallina; Emmanuelle Durand; Antje Körner; Peter Jacobson; Lena M S Carlsson; Wieland Kiess; Vincent Vatin; Cecile Lecoeur; Jérome Delplanque; Emmanuel Vaillant; François Pattou; Juan Ruiz; Jacques Weill; Claire Levy-Marchal; Fritz Horber; Natascha Potoczna; Serge Hercberg; Catherine Le Stunff; Pierre Bougnères; Peter Kovacs; Michel Marre; Beverley Balkau; Stéphane Cauchi; Jean-Claude Chèvre; Philippe Froguel
Journal:  Nat Genet       Date:  2007-05-13       Impact factor: 38.330

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  131 in total

Review 1.  Gut microbiome, obesity, and metabolic dysfunction.

Authors:  Herbert Tilg; Arthur Kaser
Journal:  J Clin Invest       Date:  2011-06-01       Impact factor: 14.808

2.  Intervention, integration and translation in obesity research: Genetic, developmental and metaorganismal approaches.

Authors:  Maureen A O'Malley; Karola Stotz
Journal:  Philos Ethics Humanit Med       Date:  2011-01-28       Impact factor: 2.464

3.  Is FTO a type 2 diabetes susceptibility gene?

Authors:  D Meyre
Journal:  Diabetologia       Date:  2012-04       Impact factor: 10.122

Review 4.  The delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiology.

Authors:  Christopher J Guerriero; Jeffrey L Brodsky
Journal:  Physiol Rev       Date:  2012-04       Impact factor: 37.312

5.  The arrestin domain-containing 3 protein regulates body mass and energy expenditure.

Authors:  Parth Patwari; Valur Emilsson; Eric E Schadt; William A Chutkow; Samuel Lee; Alessandro Marsili; Yongzhao Zhang; Radu Dobrin; David E Cohen; P Reed Larsen; Ann Marie Zavacki; Loren G Fong; Stephen G Young; Richard T Lee
Journal:  Cell Metab       Date:  2011-10-06       Impact factor: 27.287

6.  Getting biological about the genetics of diabetes.

Authors:  Christopher B Newgard; Alan D Attie
Journal:  Nat Med       Date:  2010-04       Impact factor: 53.440

Review 7.  A treasure trove of hypothalamic neurocircuitries governing body weight homeostasis.

Authors:  Claudia R Vianna; Roberto Coppari
Journal:  Endocrinology       Date:  2010-11-10       Impact factor: 4.736

8.  Genome-wide association studies and large-scale collaborations in epidemiology.

Authors:  Bruce M Psaty; Albert Hofman
Journal:  Eur J Epidemiol       Date:  2010-07-11       Impact factor: 8.082

9.  Notch/Rbpjκ signaling regulates progenitor maintenance and differentiation of hypothalamic arcuate neurons.

Authors:  Paven K Aujla; George T Naratadam; Liwen Xu; Lori T Raetzman
Journal:  Development       Date:  2013-07-24       Impact factor: 6.868

Review 10.  Childhood obesity: a life-long health risk.

Authors:  Matthias Barton
Journal:  Acta Pharmacol Sin       Date:  2012-02       Impact factor: 6.150

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