Permutt MA - Search Results

1

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. Fonseca SG, et al. Among authors: permutt ma. J Clin Invest. 2010 Mar;120(3):744-55. doi: 10.1172/JCI39678. Epub 2010 Feb 15. J Clin Invest. 2010. PMID: 20160352 Free PMC article.

2

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. Ishigaki S, et al. Among authors: permutt ma. Cell Death Differ. 2010 May;17(5):774-86. doi: 10.1038/cdd.2009.175. Epub 2009 Nov 13. Cell Death Differ. 2010. PMID: 19911006 Free PMC article.

3

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. Kesavadev J, et al. Among authors: permutt ma. Diabetes Technol Ther. 2011 Jul;13(7):781-5. doi: 10.1089/dia.2010.0242. Epub 2011 Apr 25. Diabetes Technol Ther. 2011. PMID: 21517693 Free article.

4

Evidence for gene-smoking interactions for hearing loss and deafness in Japanese American families.

Wan JY, Cataby C, Liem A, Jeffrey E, Norden-Krichmar TM, Goodman D, Santorico SA, Edwards KL; American Diabetes Association GENNID Study Group. Wan JY, et al. Hear Res. 2020 Mar 1;387:107875. doi: 10.1016/j.heares.2019.107875. Epub 2019 Dec 24. Hear Res. 2020. PMID: 31896498 Free PMC article.

5

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. Marshall BA, et al. Among authors: permutt ma. Orphanet J Rare Dis. 2013 Apr 27;8:64. doi: 10.1186/1750-1172-8-64. Orphanet J Rare Dis. 2013. PMID: 23981289 Free PMC article.

6

Five linkage regions each harbor multiple type 2 diabetes genes in the African American subset of the GENNID Study.

Hasstedt SJ, Highland HM, Elbein SC, Hanis CL, Das SK; American Diabetes Association GENNID Study Group. Hasstedt SJ, et al. J Hum Genet. 2013 Jun;58(6):378-83. doi: 10.1038/jhg.2013.21. Epub 2013 Apr 4. J Hum Genet. 2013. PMID: 23552671 Free PMC article.

7

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. Hershey T, et al. Among authors: permutt ma. PLoS One. 2012;7(7):e40604. doi: 10.1371/journal.pone.0040604. Epub 2012 Jul 11. PLoS One. 2012. PMID: 22792385 Free PMC article.

8

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. Pickett KA, et al. Among authors: permutt ma. Gait Posture. 2012 Jul;36(3):619-24. doi: 10.1016/j.gaitpost.2012.06.008. Epub 2012 Jul 6. Gait Posture. 2012. PMID: 22771154 Free PMC article.

9

Single nucleotide polymorphisms in JAZF1 and BCL11A gene are nominally associated with type 2 diabetes in African-American families from the GENNID study.

Langberg KA, Ma L, Sharma NK, Hanis CL, Elbein SC, Hasstedt SJ, Das SK; American Diabetes Association GENNID Study Group. Langberg KA, et al. J Hum Genet. 2012 Jan;57(1):57-61. doi: 10.1038/jhg.2011.133. Epub 2011 Nov 24. J Hum Genet. 2012. PMID: 22113416 Free PMC article.

10

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. Tanabe K, et al. Among authors: permutt ma. PLoS One. 2011 Apr 26;6(4):e18146. doi: 10.1371/journal.pone.0018146. PLoS One. 2011. PMID: 21541314 Free PMC article.

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