Zobrazeno 1 - 10
of 319
pro vyhledávání: '"Alan Permutt"'
Publikováno v:
BioTechniques, Vol 32, Iss 5, Pp 1144-1152 (2002)
Single nucleotide polymorphism (SNP) association studies searching for differences in allele frequencies between cases and controls have been widely used for genetic analysis. Individual genotyping is prohibitively expensive in large sample sizes. Po
Externí odkaz:
https://doaj.org/article/142aaeb6a55c42f4836661d6f48dec3b
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:
Stéphane Cauchi, David Meyre, Emmanuelle Durand, Christine Proença, Michel Marre, Samy Hadjadj, Hélène Choquet, Franck De Graeve, Stefan Gaget, Frederic Allegaert, Jérôme Delplanque, Marshall Alan Permutt, Jon Wasson, Ilana Blech, Guillaume Charpentier, Beverley Balkau, Anne-Claire Vergnaud, Sébastien Czernichow, Wolfgang Patsch, Mohamed Chikri, Benjamin Glaser, Robert Sladek, Philippe Froguel
Publikováno v:
PLoS ONE, Vol 3, Iss 5, p e2031 (2008)
Recently, several Genome Wide Association (GWA) studies in populations of European descent have identified and validated novel single nucleotide polymorphisms (SNPs), highly associated with type 2 diabetes (T2D). Our aims were to validate these marke
Externí odkaz:
https://doaj.org/article/4e7c6b6f070f4a8cadb0fec1a1e23371
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:
Marshall, Bess A.1,2 marshall@kids.wustl.edu, Alan Permutt, M.3, Paciorkowski, Alexander R.4,5,6, Hoekel, James1,7,8, Karzon, Roanne8,9,10, Wasson, Jon3, Viehover, Amy1,11, White, Neil H.1,3,8, Shimony, Joshua S.12, Manwaring, Linda1, Austin, Paul13,14, Hullar, Timothy E.9, Hershey, Tamara11,12,15, Permutt, M Alan (AUTHOR), Washington University Wolfram Study Group (CORPORATE AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 2013, Vol. 8 Issue 1, p1-12. 12p. 6 Charts.
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:
Wan, Jia Y., Goodman, Deborah L., Willems, Emileigh L., Freedland, Alexis R., Norden-Krichmar, Trina M., Santorico, Stephanie A., Edwards, Karen L., American Diabetes GENNID Study Group, Boerwinkle, Eric, Buse, John, DeFronzo, Ralph, Ehrmann, David, Elbein, Steven C., Fujimoto, Wilfred, Kahn, Steven E., Hanis, Craig L., Mulivor, Richard A., Beck, Jeanne C., Norris, Jill, Alan Permutt, M.
Publikováno v:
Diabetology & Metabolic Syndrome; 6/1/2021, Vol. 13 Issue 1, p1-15, 15p