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Author Details

Marshall Alan Permutt
Washington University School of Medicine
1966
217
66
PMIDPaper TitleJournal TitlePublished Year
23981289Phenotypic characteristics of early Wolfram syndrome.Orphanet J Rare Dis2013
22771154Balance impairment in individuals with Wolfram syndrome.Gait Posture2012
22792385Early brain vulnerability in Wolfram syndrome.PLoS One2012
21541314Glucose and fatty acids synergize to promote B-cell apoptosis through activation of glycogen synthase kinase 3β independent of JNK activation.PLoS One2011
21517693An Asian Indian woman with Wolfram syndrome on insulin pump: successful pregnancy and beyond.Diabetes Technol Ther2011
20028947Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk.Diabetes2010
20689817Transgenic overexpression of active calcineurin in beta-cells results in decreased beta-cell mass and hyperglycemia.PLoS One2010
20821187Conditional ablation of Gsk-3β in islet beta cells results in expanded mass and resistance to fat feeding-induced diabetes in mice.Diabetologia2010
20160352Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells.J Clin Invest2010
20361036Gene-gene interactions lead to higher risk for development of type 2 diabetes in an Ashkenazi Jewish population.PLoS One2010
19911006AATF mediates an antiapoptotic effect of the unfolded protein response through transcriptional regulation of AKT1.Cell Death Differ2010
19808022LKB1 regulates pancreatic beta cell size, polarity, and function.Cell Metab2009
19723764Presenilins, Notch dose control the fate of pancreatic endocrine progenitors during a narrow developmental window.Genes Dev2009
18197395Candidate gene studies reveal that the WFS1 gene joins the expanding list of novel type 2 diabetes genes.Diabetologia2008
18728231Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies.Diabetes2008
18568334Impact of polymorphisms in WFS1 on prediabetic phenotypes in a population-based sample of middle-aged people with normal and abnormal glucose regulation.Diabetologia2008
18461161Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value.PLoS One2008
18288891Genetic deficiency of glycogen synthase kinase-3beta corrects diabetes in mouse models of insulin resistance.PLoS Biol2008
18219478Mice with beta cell overexpression of glycogen synthase kinase-3beta have reduced beta cell mass and proliferation.Diabetologia2008
18305138Variants in the CD36 gene associate with the metabolic syndrome and high-density lipoprotein cholesterol.Hum Mol Genet2008
18174526Inhibition of Foxo1 protects pancreatic islet beta-cells against fatty acid and endoplasmic reticulum stress-induced apoptosis.Diabetes2008
17550914A global approach to identify differentially expressed genes in cDNA (two-color) microarray experiments.Bioinformatics2007
17603484Common variants in WFS1 confer risk of type 2 diabetes.Nat Genet2007
17563455HNF4A genetic variants: role in diabetes.Curr Opin Clin Nutr Metab Care2007
16731820Glucose regulates Foxo1 through insulin receptor signaling in the pancreatic islet beta-cell.Diabetes2006
17158802Insulin protects islets from apoptosis via Pdx1 and specific changes in the human islet proteome.Proc Natl Acad Sci U S A2006
15793234Endoplasmic reticulum stress-induced apoptosis is partly mediated by reduced insulin signaling through phosphatidylinositol 3-kinase/Akt and increased glycogen synthase kinase-3beta in mouse insulinoma cells.Diabetes2005
16215705Mice conditionally lacking the Wolfram gene in pancreatic islet beta cells exhibit diabetes as a result of enhanced endoplasmic reticulum stress and apoptosis.Diabetologia2005
16249427Diabetes and insulin secretion: the ATP-sensitive K+ channel (K ATP) connection.Diabetes2005
15931378Genetic epidemiology of diabetes.J Clin Invest2005
16098828Increased dosage of mammalian Sir2 in pancreatic beta cells enhances glucose-stimulated insulin secretion in mice.Cell Metab2005
15546857Reduced expression of the insulin receptor in mouse insulinoma (MIN6) cells reveals multiple roles of insulin signaling in gene expression, proliferation, insulin content, and secretion.J Biol Chem2005
15070927Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population.J Clin Endocrinol Metab2004
15504983Common variants of the hepatocyte nuclear factor-4alpha P2 promoter are associated with type 2 diabetes in the U.K. population.Diabetes2004
15467831Defective insulin secretion and increased susceptibility to experimental diabetes are induced by reduced Akt activity in pancreatic islet beta cells.J Clin Invest2004
14722648An expression profile of human pancreatic islet mRNAs by Serial Analysis of Gene Expression (SAGE).Diabetologia2004
15161754Glucose and insulin treatment of insulinoma cells results in transcriptional regulation of a common set of genes.Diabetes2004
15047632A common polymorphism in the upstream promoter region of the hepatocyte nuclear factor-4 alpha gene on chromosome 20q is associated with type 2 diabetes and appears to contribute to the evidence for linkage in an ashkenazi jewish population.Diabetes2004
12829622Transcriptional program of the endocrine pancreas in mice and humans.Diabetes2003
14566094Polymorphisms of the HDL receptor gene associated with HDL cholesterol levels in diabetic kindred from three populations.Hum Hered2003
14527944Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium.J Biol Chem2003
12643262E23K single nucleotide polymorphism in the islet ATP-sensitive potassium channel gene (Kir6.2) contributes as much to the risk of Type II diabetes in Caucasians as the PPARgamma Pro12Ala variant.Diabetologia2003
12592642Gene expression profiling in islet biology and diabetes research.Diabetes Metab Res Rev2003
12032747A meta-analytic investigation of linkage and association of common leptin receptor (LEPR) polymorphisms with body mass index and waist circumference.Int J Obes Relat Metab Disord2002
12217896Glucose promotes pancreatic islet beta-cell survival through a PI 3-kinase/Akt-signaling pathway.Am J Physiol Endocrinol Metab2002
12475794Activation of nuclear factor-kappaB by depolarization and Ca(2+) influx in MIN6 insulinoma cells.Diabetes2002
12475768Searching for type 2 diabetes genes on chromosome 20.Diabetes2002
12019788Assessing allele frequencies of single nucleotide polymorphisms in DNA pools by pyrosequencing technology.Biotechniques2002
12086925Functional genomics of the endocrine pancreas: the pancreas clone set and PancChip, new resources for diabetes research.Diabetes2002
11462236Missense polymorphism in the human carboxypeptidase E gene alters enzymatic activity.Hum Mutat2001
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Collaborators

Benjamin Glaser
Co-authored papers 29
Andrew T Hattersley
Co-authored papers 10
Jorge Ferrer
Co-authored papers 10
Michael A Province
Co-authored papers 9
Philippe Froguel
Co-authored papers 8
Joanne M Meyer
Co-authored papers 5
Kohei Kaku
Co-authored papers 5
Mark I McCarthy
Co-authored papers 4
Gilberto Velho
Co-authored papers 4
Oluf Pedersen
Co-authored papers 4
Nancy J Cox
Vanderbilt University Medical Center
Co-authored papers 3
Inês Barroso
Co-authored papers 3
Mark Walker
Co-authored papers 3
Timothy M Frayling
Co-authored papers 3
Graham A Hitman
Co-authored papers 3
Leif Groop
Co-authored papers 3
Christian J Stoeckert
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 3
Michael N Weedon
Co-authored papers 3
Sandra W Clifton
Garvan Institute of Medical Research
Co-authored papers 3
Nicholas J Wareham
Co-authored papers 3
Paul Zimmet
Co-authored papers 2
Elisabetta Manduchi
Center for Spatial and Functional Genomics, Children's Hospital of Philadelphia
Co-authored papers 2
Markku Laakso
Co-authored papers 2
Alan R Shuldiner
University of Maryland School of Medicine
Co-authored papers 2
Matti Uusitupa
Co-authored papers 2
Deborah F Pinney
University of Pennsylvania
Co-authored papers 2
Eleanor Wheeler
Co-authored papers 2
Manjinder S Sandhu
Co-authored papers 2
Juliana Brown
Co-authored papers 2
Angel Pizarro
The Institute for Translational Medicine and Therapeutics, University of Pennsylvania
Co-authored papers 2
Release 1.2