Zobrazeno 1 - 10
of 94
pro vyhledávání: '"M Alan Permutt"'
Autor:
Tamara Hershey, Heather M Lugar, Joshua S Shimony, Jerrel Rutlin, Jonathan M Koller, Dana C Perantie, Alex R Paciorkowski, Sarah A Eisenstein, M Alan Permutt, Washington University Wolfram Study Group
Publikováno v:
PLoS ONE, Vol 7, Iss 7, p e40604 (2012)
Wolfram Syndrome (WFS) is a rare autosomal recessive disease characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, diabetes insipidus, deafness, and neurological dysfunction leading to death in mid-adulthood. WFS is caused by mut
Externí odkaz:
https://doaj.org/article/4b4639ed990e480e844ba70571598a29
Autor:
Katsuya Tanabe, Yang Liu, Syed D Hasan, Sara C Martinez, Corentin Cras-Méneur, Cris M Welling, Ernesto Bernal-Mizrachi, Yukio Tanizawa, Christopher J Rhodes, Erik Zmuda, Tsonwin Hai, Nada A Abumrad, M Alan Permutt
Publikováno v:
PLoS ONE, Vol 6, Iss 4, p e18146 (2011)
The combination of elevated glucose and free-fatty acids (FFA), prevalent in diabetes, has been suggested to be a major contributor to pancreatic β-cell death. This study examines the synergistic effects of glucose and FFA on β-cell apoptosis and t
Externí odkaz:
https://doaj.org/article/b671a558826147669c4f27ffce82fc99
Publikováno v:
PLoS ONE, Vol 5, Iss 8, p e11969 (2010)
BACKGROUND:Glucose modulates beta-cell mass and function through an initial depolarization and Ca(2+) influx, which then triggers a number of growth regulating signaling pathways. One of the most important downstream effectors in Ca(2+) signaling is
Externí odkaz:
https://doaj.org/article/228d80708eee46dbb20eab4296fdec42
Autor:
Rosalind J Neuman, Jon Wasson, Gil Atzmon, Julio Wainstein, Yair Yerushalmi, Joseph Cohen, Nir Barzilai, Ilana Blech, Benjamin Glaser, M Alan Permutt
Publikováno v:
PLoS ONE, Vol 5, Iss 3, p e9903 (2010)
Evidence has accumulated that multiple genetic and environmental factors play important roles in determining susceptibility to type 2 diabetes (T2D). Although variants from candidate genes have become prime targets for genetic analysis, few studies h
Externí odkaz:
https://doaj.org/article/84510053daea43179543b6cbb29dbe9a
Autor:
Katsuya Tanabe, Zhonghao Liu, Satish Patel, Bradley W Doble, Lin Li, Corentin Cras-Méneur, Sara C Martinez, Cris M Welling, Morris F White, Ernesto Bernal-Mizrachi, James R Woodgett, M Alan Permutt
Publikováno v:
PLoS Biology, Vol 6, Iss 2, p e37 (2008)
Despite treatment with agents that enhance beta-cell function and insulin action, reduction in beta-cell mass is relentless in patients with insulin resistance and type 2 diabetes mellitus. Insulin resistance is characterized by impaired signaling th
Externí odkaz:
https://doaj.org/article/204fb8f76a4a4489839e941e516b46eb
Autor:
Andrew Liem, Steven E. Kahn, Emily Jeffrey, Craig L. Hanis, Stephanie A. Santorico, Eric Boerwinkle, M. Alan Permutt, Deborah Goodman, David A. Ehrmann, Leslie J. Raffel, Karen L. Edwards, Wilfred Y. Fujimoto, Steven C. Elbein, Ralph A. DeFronzo, Trina M. Norden-Krichmar, David C. Robbins, Jeanne C. Beck, Richard A. Mulivor, John B. Buse, Philip Behn, Jill M. Norris, Christina Cataby, Jia Y. Wan
Publikováno v:
Hear Res
Background This study investigated the relationship between smoking and hearing loss and deafness (HLD) and whether the relationship is modified by genetic variation. Data for these analyses was from the subset of Japanese American families collected
Autor:
M. Alan Permutt, Gammon M. Earhart, Alex R. Paciorkowski, Kristen A. Pickett, Bess A. Marshall, Ryan P. Duncan, Tamara Hershey
Publikováno v:
Gait & Posture. 36:619-624
Aim Wolfram syndrome (WFS), a rare neurodegenerative disorder, is characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological abnormalities. Although previously unreported, we hypoth
Autor:
Sara C. Martinez, Ernesto Bernal-Mizrachi, Corentin Cras-Méneur, M. Alan Permutt, Nada A. Abumrad, Katsuya Tanabe
Publikováno v:
Diabetes. 57:846-859
OBJECTIVE—β-Cells are particularly susceptible to fatty acid–induced apoptosis associated with decreased insulin receptor/phosphatidylinositol-3 kinase/Akt signaling and the activation of stress kinases. We examined the mechanism of fatty acid
Autor:
Benjamin Glaser, Andrew T. Hattersley, Jing Hua Zhao, Mark I. McCarthy, Nicholas J. Wareham, Graham A. Hitman, Ranganath Venkatesh, Eleftheria Zeggini, Panagiotis Deloukas, Michael N. Weedon, Sarah E. Hunt, Eleanor Wheeler, M. Alan Permutt, Richard Sherva, Marcos Delgado, Pamela Whittaker, Jian'an Luan, Timothy M. Frayling, Rosalind J. Neuman, Jon Wasson, Inês Barroso, Mark Walker
Publikováno v:
Diabetes
OBJECTIVE—Single nucleotide polymorphisms (SNPs) in the P2 promoter region of HNF4A were originally shown to be associated with predisposition for type 2 diabetes in Finnish, Ashkenazi, and, more recently, Scandinavian populations, but they generat
Publikováno v:
Bioinformatics. 23:2073-2079
Motivation: Currently most of the methods for identifying differentially expressed genes fall into the category of so called single-gene-analysis, performing hypothesis testing on a gene-by-gene basis. In a single-gene-analysis approach, estimating t