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Items: 1 to 50 of 202

1.

Phenotypic characteristics of early Wolfram syndrome.

Marshall BA, Permutt MA, Paciorkowski AR, Hoekel J, Karzon R, Wasson J, Viehover A, White NH, Shimony JS, Manwaring L, Austin P, Hullar TE, Hershey T; Washington University Wolfram Study Group.

Orphanet J Rare Dis. 2013 Apr 27;8:64. doi: 10.1186/1750-1172-8-64.

2.

Early brain vulnerability in Wolfram syndrome.

Hershey T, Lugar HM, Shimony JS, Rutlin J, Koller JM, Perantie DC, Paciorkowski AR, Eisenstein SA, Permutt MA; Washington University Wolfram Study Group.

PLoS One. 2012;7(7):e40604. doi: 10.1371/journal.pone.0040604. Epub 2012 Jul 11.

3.

Balance impairment in individuals with Wolfram syndrome.

Pickett KA, Duncan RP, Paciorkowski AR, Permutt MA, Marshall B, Hershey T, Earhart GM; Washington University Wolfram Study Group.

Gait Posture. 2012 Jul;36(3):619-24. Epub 2012 Jul 6.

4.

Glucose and fatty acids synergize to promote B-cell apoptosis through activation of glycogen synthase kinase 3β independent of JNK activation.

Tanabe K, Liu Y, Hasan SD, Martinez SC, Cras-Méneur C, Welling CM, Bernal-Mizrachi E, Tanizawa Y, Rhodes CJ, Zmuda E, Hai T, Abumrad NA, Permutt MA.

PLoS One. 2011 Apr 26;6(4):e18146. doi: 10.1371/journal.pone.0018146.

5.

An Asian Indian woman with Wolfram syndrome on insulin pump: successful pregnancy and beyond.

Kesavadev J, Kumar A, Shankar A, Gopalakrishnan G, Permutt MA, Wasson J, Jothydev S.

Diabetes Technol Ther. 2011 Jul;13(7):781-5. doi: 10.1089/dia.2010.0242. Epub 2011 Apr 25.

PMID:
21517693
6.

Conditional ablation of Gsk-3β in islet beta cells results in expanded mass and resistance to fat feeding-induced diabetes in mice.

Liu Y, Tanabe K, Baronnier D, Patel S, Woodgett J, Cras-Méneur C, Permutt MA.

Diabetologia. 2010 Dec;53(12):2600-10. doi: 10.1007/s00125-010-1882-x. Epub 2010 Sep 7.

7.

Transgenic overexpression of active calcineurin in beta-cells results in decreased beta-cell mass and hyperglycemia.

Bernal-Mizrachi E, Cras-Méneur C, Ye BR, Johnson JD, Permutt MA.

PLoS One. 2010 Aug 3;5(8):e11969. doi: 10.1371/journal.pone.0011969.

8.

Gene-gene interactions lead to higher risk for development of type 2 diabetes in an Ashkenazi Jewish population.

Neuman RJ, Wasson J, Atzmon G, Wainstein J, Yerushalmi Y, Cohen J, Barzilai N, Blech I, Glaser B, Permutt MA.

PLoS One. 2010 Mar 26;5(3):e9903. doi: 10.1371/journal.pone.0009903.

9.

Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells.

Fonseca SG, Ishigaki S, Oslowski CM, Lu S, Lipson KL, Ghosh R, Hayashi E, Ishihara H, Oka Y, Permutt MA, Urano F.

J Clin Invest. 2010 Mar;120(3):744-55. doi: 10.1172/JCI39678. Epub 2010 Feb 15.

10.

AATF mediates an antiapoptotic effect of the unfolded protein response through transcriptional regulation of AKT1.

Ishigaki S, Fonseca SG, Oslowski CM, Jurczyk A, Shearstone JR, Zhu LJ, Permutt MA, Greiner DL, Bortell R, Urano F.

Cell Death Differ. 2010 May;17(5):774-86. doi: 10.1038/cdd.2009.175. Epub 2009 Nov 13.

11.

LKB1 regulates pancreatic beta cell size, polarity, and function.

Granot Z, Swisa A, Magenheim J, Stolovich-Rain M, Fujimoto W, Manduchi E, Miki T, Lennerz JK, Stoeckert CJ Jr, Meyuhas O, Seino S, Permutt MA, Piwnica-Worms H, Bardeesy N, Dor Y.

Cell Metab. 2009 Oct;10(4):296-308. doi: 10.1016/j.cmet.2009.08.010.

12.

Presenilins, Notch dose control the fate of pancreatic endocrine progenitors during a narrow developmental window.

Cras-Méneur C, Li L, Kopan R, Permutt MA.

Genes Dev. 2009 Sep 1;23(17):2088-101. doi: 10.1101/gad.1800209.

13.

Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies.

Barroso I, Luan J, Wheeler E, Whittaker P, Wasson J, Zeggini E, Weedon MN, Hunt S, Venkatesh R, Frayling TM, Delgado M, Neuman RJ, Zhao J, Sherva R, Glaser B, Walker M, Hitman G, McCarthy MI, Hattersley AT, Permutt MA, Wareham NJ, Deloukas P.

Diabetes. 2008 Nov;57(11):3161-5. doi: 10.2337/db08-0719. Epub 2008 Aug 26.

14.

Impact of polymorphisms in WFS1 on prediabetic phenotypes in a population-based sample of middle-aged people with normal and abnormal glucose regulation.

Sparsø T, Andersen G, Albrechtsen A, Jørgensen T, Borch-Johnsen K, Sandbaek A, Lauritzen T, Wasson J, Permutt MA, Glaser B, Madsbad S, Pedersen O, Hansen T.

Diabetologia. 2008 Sep;51(9):1646-52. doi: 10.1007/s00125-008-1064-2. Epub 2008 Jun 21.

PMID:
18568334
15.

Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value.

Cauchi S, Meyre D, Durand E, Proença C, Marre M, Hadjadj S, Choquet H, De Graeve F, Gaget S, Allegaert F, Delplanque J, Permutt MA, Wasson J, Blech I, Charpentier G, Balkau B, Vergnaud AC, Czernichow S, Patsch W, Chikri M, Glaser B, Sladek R, Froguel P.

PLoS One. 2008 May 7;3(5):e2031. doi: 10.1371/journal.pone.0002031.

16.

Variants in the CD36 gene associate with the metabolic syndrome and high-density lipoprotein cholesterol.

Love-Gregory L, Sherva R, Sun L, Wasson J, Schappe T, Doria A, Rao DC, Hunt SC, Klein S, Neuman RJ, Permutt MA, Abumrad NA.

Hum Mol Genet. 2008 Jun 1;17(11):1695-704. doi: 10.1093/hmg/ddn060. Epub 2008 Feb 27.

17.

Genetic deficiency of glycogen synthase kinase-3beta corrects diabetes in mouse models of insulin resistance.

Tanabe K, Liu Z, Patel S, Doble BW, Li L, Cras-Méneur C, Martinez SC, Welling CM, White MF, Bernal-Mizrachi E, Woodgett JR, Permutt MA.

PLoS Biol. 2008 Feb;6(2):e37. doi: 10.1371/journal.pbio.0060037.

18.

Mice with beta cell overexpression of glycogen synthase kinase-3beta have reduced beta cell mass and proliferation.

Liu Z, Tanabe K, Bernal-Mizrachi E, Permutt MA.

Diabetologia. 2008 Apr;51(4):623-31. doi: 10.1007/s00125-007-0914-7. Epub 2008 Jan 25.

PMID:
18219478
19.

Candidate gene studies reveal that the WFS1 gene joins the expanding list of novel type 2 diabetes genes.

Wasson J, Permutt MA.

Diabetologia. 2008 Mar;51(3):391-3. doi: 10.1007/s00125-007-0920-9. Epub 2008 Jan 15. No abstract available.

PMID:
18197395
20.

Inhibition of Foxo1 protects pancreatic islet beta-cells against fatty acid and endoplasmic reticulum stress-induced apoptosis.

Martinez SC, Tanabe K, Cras-Méneur C, Abumrad NA, Bernal-Mizrachi E, Permutt MA.

Diabetes. 2008 Apr;57(4):846-59. doi: 10.2337/db07-0595. Epub 2008 Jan 3.

21.

Common variants in WFS1 confer risk of type 2 diabetes.

Sandhu MS, Weedon MN, Fawcett KA, Wasson J, Debenham SL, Daly A, Lango H, Frayling TM, Neumann RJ, Sherva R, Blech I, Pharoah PD, Palmer CN, Kimber C, Tavendale R, Morris AD, McCarthy MI, Walker M, Hitman G, Glaser B, Permutt MA, Hattersley AT, Wareham NJ, Barroso I.

Nat Genet. 2007 Aug;39(8):951-3. Epub 2007 Jul 1.

22.

HNF4A genetic variants: role in diabetes.

Love-Gregory L, Permutt MA.

Curr Opin Clin Nutr Metab Care. 2007 Jul;10(4):397-402. Review.

PMID:
17563455
23.

A global approach to identify differentially expressed genes in cDNA (two-color) microarray experiments.

Zhou Y, Cras-Méneur C, Ohsugi M, Stormo GD, Permutt MA.

Bioinformatics. 2007 Aug 15;23(16):2073-9. Epub 2007 Jun 5.

PMID:
17550914
24.

Insulin protects islets from apoptosis via Pdx1 and specific changes in the human islet proteome.

Johnson JD, Bernal-Mizrachi E, Alejandro EU, Han Z, Kalynyak TB, Li H, Beith JL, Gross J, Warnock GL, Townsend RR, Permutt MA, Polonsky KS.

Proc Natl Acad Sci U S A. 2006 Dec 19;103(51):19575-80. Epub 2006 Dec 8.

25.

Glucose regulates Foxo1 through insulin receptor signaling in the pancreatic islet beta-cell.

Martinez SC, Cras-Méneur C, Bernal-Mizrachi E, Permutt MA.

Diabetes. 2006 Jun;55(6):1581-91.

26.

Diabetes and insulin secretion: the ATP-sensitive K+ channel (K ATP) connection.

Koster JC, Permutt MA, Nichols CG.

Diabetes. 2005 Nov;54(11):3065-72. Review.

27.

Mice conditionally lacking the Wolfram gene in pancreatic islet beta cells exhibit diabetes as a result of enhanced endoplasmic reticulum stress and apoptosis.

Riggs AC, Bernal-Mizrachi E, Ohsugi M, Wasson J, Fatrai S, Welling C, Murray J, Schmidt RE, Herrera PL, Permutt MA.

Diabetologia. 2005 Nov;48(11):2313-21. Epub 2005 Oct 8.

PMID:
16215705
28.

Increased dosage of mammalian Sir2 in pancreatic beta cells enhances glucose-stimulated insulin secretion in mice.

Moynihan KA, Grimm AA, Plueger MM, Bernal-Mizrachi E, Ford E, Cras-Méneur C, Permutt MA, Imai S.

Cell Metab. 2005 Aug;2(2):105-17.

29.

Genetic epidemiology of diabetes.

Permutt MA, Wasson J, Cox N.

J Clin Invest. 2005 Jun;115(6):1431-9. Review.

31.

Reduced expression of the insulin receptor in mouse insulinoma (MIN6) cells reveals multiple roles of insulin signaling in gene expression, proliferation, insulin content, and secretion.

Ohsugi M, Cras-Méneur C, Zhou Y, Bernal-Mizrachi E, Johnson JD, Luciani DS, Polonsky KS, Permutt MA.

J Biol Chem. 2005 Feb 11;280(6):4992-5003. Epub 2004 Nov 15.

32.

Common variants of the hepatocyte nuclear factor-4alpha P2 promoter are associated with type 2 diabetes in the U.K. population.

Weedon MN, Owen KR, Shields B, Hitman G, Walker M, McCarthy MI, Love-Gregory LD, Permutt MA, Hattersley AT, Frayling TM.

Diabetes. 2004 Nov;53(11):3002-6.

33.

Defective insulin secretion and increased susceptibility to experimental diabetes are induced by reduced Akt activity in pancreatic islet beta cells.

Bernal-Mizrachi E, Fatrai S, Johnson JD, Ohsugi M, Otani K, Han Z, Polonsky KS, Permutt MA.

J Clin Invest. 2004 Oct;114(7):928-36.

34.

Glucose and insulin treatment of insulinoma cells results in transcriptional regulation of a common set of genes.

Ohsugi M, Cras-Méneur C, Zhou Y, Warren W, Bernal-Mizrachi E, Permutt MA.

Diabetes. 2004 Jun;53(6):1496-508.

36.

An expression profile of human pancreatic islet mRNAs by Serial Analysis of Gene Expression (SAGE).

Cras-Méneur C, Inoue H, Zhou Y, Ohsugi M, Bernal-Mizrachi E, Pape D, Clifton SW, Permutt MA.

Diabetologia. 2004 Feb;47(2):284-99. Epub 2004 Jan 13.

PMID:
14722648
37.

Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium.

Osman AA, Saito M, Makepeace C, Permutt MA, Schlesinger P, Mueckler M.

J Biol Chem. 2003 Dec 26;278(52):52755-62. Epub 2003 Oct 3.

38.

Transcriptional program of the endocrine pancreas in mice and humans.

Kaestner KH, Lee CS, Scearce LM, Brestelli JE, Arsenlis A, Le PP, Lantz KA, Crabtree J, Pizarro A, Mazzarelli J, Pinney D, Fischer S, Manduchi E, Stoeckert CJ Jr, Gradwohl G, Clifton SW, Brown JR, Inoue H, Cras-Méneur C, Permutt MA.

Diabetes. 2003 Jul;52(7):1604-10.

39.

E23K 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.

Love-Gregory L, Wasson J, Lin J, Skolnick G, Suarez B, Permutt MA.

Diabetologia. 2003 Jan;46(1):136-7. No abstract available.

PMID:
12643262
40.

Gene expression profiling in islet biology and diabetes research.

Bernal-Mizrachi E, Cras-Méneur C, Ohsugi M, Permutt MA.

Diabetes Metab Res Rev. 2003 Jan-Feb;19(1):32-42. Review.

PMID:
12592642
41.

Activation of nuclear factor-kappaB by depolarization and Ca(2+) influx in MIN6 insulinoma cells.

Bernal-Mizrachi E, Wen W, Shornick M, Permutt MA.

Diabetes. 2002 Dec;51 Suppl 3:S484-8.

42.

Searching for type 2 diabetes genes on chromosome 20.

Permutt MA, Wasson J, Love-Gregory L, Ma J, Skolnick G, Suarez B, Lin J, Glaser B.

Diabetes. 2002 Dec;51 Suppl 3:S308-15.

43.

Glucose promotes pancreatic islet beta-cell survival through a PI 3-kinase/Akt-signaling pathway.

Srinivasan S, Bernal-Mizrachi E, Ohsugi M, Permutt MA.

Am J Physiol Endocrinol Metab. 2002 Oct;283(4):E784-93.

44.

Functional genomics of the endocrine pancreas: the pancreas clone set and PancChip, new resources for diabetes research.

Scearce LM, Brestelli JE, McWeeney SK, Lee CS, Mazzarelli J, Pinney DF, Pizarro A, Stoeckert CJ Jr, Clifton SW, Permutt MA, Brown J, Melton DA, Kaestner KH.

Diabetes. 2002 Jul;51(7):1997-2004.

45.

A meta-analytic investigation of linkage and association of common leptin receptor (LEPR) polymorphisms with body mass index and waist circumference.

Heo M, Leibel RL, Fontaine KR, Boyer BB, Chung WK, Koulu M, Karvonen MK, Pesonen U, Rissanen A, Laakso M, Uusitupa MI, Chagnon Y, Bouchard C, Donohoue PA, Burns TL, Shuldiner AR, Silver K, Andersen RE, Pedersen O, Echwald S, Sørensen TI, Behn P, Permutt MA, Jacobs KB, Elston RC, Hoffman DJ, Gropp E, Allison DB.

Int J Obes Relat Metab Disord. 2002 May;26(5):640-6.

PMID:
12032747
46.

Assessing allele frequencies of single nucleotide polymorphisms in DNA pools by pyrosequencing technology.

Wasson J, Skolnick G, Love-Gregory L, Permutt MA.

Biotechniques. 2002 May;32(5):1144-6, 1148, 1150 passim.

47.

Islet beta cell expression of constitutively active Akt1/PKB alpha induces striking hypertrophy, hyperplasia, and hyperinsulinemia.

Bernal-Mizrachi E, Wen W, Stahlhut S, Welling CM, Permutt MA.

J Clin Invest. 2001 Dec;108(11):1631-8.

48.

Pooling analysis of genetic data: the association of leptin receptor (LEPR) polymorphisms with variables related to human adiposity.

Heo M, Leibel RL, Boyer BB, Chung WK, Koulu M, Karvonen MK, Pesonen U, Rissanen A, Laakso M, Uusitupa MI, Chagnon Y, Bouchard C, Donohoue PA, Burns TL, Shuldiner AR, Silver K, Andersen RE, Pedersen O, Echwald S, Sørensen TI, Behn P, Permutt MA, Jacobs KB, Elston RC, Hoffman DJ, Allison DB.

Genetics. 2001 Nov;159(3):1163-78.

49.

Activation of Elk-1, an Ets transcription factor, by glucose and EGF treatment of insulinoma cells.

Bernal-Mizrachi E, Wen W, Srinivasan S, Klenk A, Cohen D, Permutt MA.

Am J Physiol Endocrinol Metab. 2001 Dec;281(6):E1286-99.

50.

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