Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Stephen I. Stone"'
Autor:
Damien Abreu, Stephen I. Stone, Toni S. Pearson, Robert C. Bucelli, Ashley N. Simpson, Stacy Hurst, Cris M. Brown, Kelly Kries, Chinyere Onwumere, Hongjie Gu, James Hoekel, Lawrence Tychsen, Gregory P. Van Stavern, Neil H. White, Bess A. Marshall, Tamara Hershey, Fumihiko Urano
Publikováno v:
JCI Insight, Vol 6, Iss 15 (2021)
BACKGROUND Wolfram syndrome is a rare ER disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration. Although there is no treatment for Wolfram syndrome, preclinical studies in cell and roden
Externí odkaz:
https://doaj.org/article/cc59812ac3294482ac751139a8922e28
Publikováno v:
Diabetes. 71
Insulin-mediated pseudoacromegaly (IMPA) is a rare, severe insulin resistance syndrome characterized by tall stature, acanthosis nigricans, obesity, and acromegalic features. Patients with IMPA have normal growth hormone and IGF-1. However, they have
Autor:
Megha Verma, Stephen I Stone
Publikováno v:
Endocrinology, diabetesmetabolism case reports. 2022
Summary We identified an adolescent young woman with new-onset diabetes. Due to suspicious family history, she underwent genetic testing for common monogenic diabetes (MODY) genes. We discovered that she and her father carry a novel variant of uncert
Autor:
Ashley N Simpson, Damien Abreu, Toni S. Pearson, Hongjie Gu, Tamara Hershey, Neil H. White, Gregory P. Van Stavern, James Hoekel, Stacy Hurst, Robert C. Bucelli, Chinyere Onwumere, Cris M. Brown, Bess A. Marshall, Stephen I. Stone, Fumihiko Urano, Kelly Kries, Lawrence Tychsen
Publikováno v:
JCI Insight.
BACKGROUNDWolfram syndrome is a rare ER disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration. Although there is no treatment for Wolfram syndrome, preclinical studies in cell and rodent
Autor:
Rolf Graf, Jana Mahadevan, Rie Asada, Bess A. Marshall, Stephen I. Stone, Kelly Kries, Damien Abreu, Fumihiko Urano, Tamara Hershey
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Scientific Reports
Scientific Reports
Endoplasmic reticulum (ER) stress in beta cells is an important pathogenic component of both type 1 and type 2 diabetes mellitus, as well as genetic forms of diabetes, especially Wolfram syndrome. However, there are currently no convenient ways to as
Autor:
Damien, Abreu, Stephen I, Stone, Toni S, Pearson, Robert C, Bucelli, Ashley N, Simpson, Stacy, Hurst, Cris M, Brown, Kelly, Kries, Chinyere, Onwumere, Hongjie, Gu, James, Hoekel, Lawrence, Tychsen, Gregory P, Van Stavern, Neil H, White, Bess A, Marshall, Tamara, Hershey, Fumihiko, Urano
Publikováno v:
JCI Insight
BACKGROUND Wolfram syndrome is a rare ER disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration. Although there is no treatment for Wolfram syndrome, preclinical studies in cell and roden
Autor:
Neil H. White, Toni S. Pearson, Stacy Hurst, Hongjie Gu, Tamara Hershey, Ashley N Simpson, Lawrence Tychsen, Cris M. Brown, Kelly Kries, James Hoekel, Damien Abreu, Bess A. Marshall, Stephen I. Stone, Fumihiko Urano, Robert C. Bucelli, Gregory P. Van Stavern
BackgroundWolfram syndrome is a rare endoplasmic reticulum disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration. Although there is currently no treatment to delay, halt, or reverse the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb70672123fe31e0eed6b81fc5615a0f
https://doi.org/10.1101/2020.10.07.20208694
https://doi.org/10.1101/2020.10.07.20208694
Publikováno v:
Diabetes. 69
Insulin mediated pseduoacromegaly (IMPA) is a rare insulin resistance syndrome characterized by tall stature, acanthosis nigricans, obesity, and acromegaloid features. Subjects with IMPA have normal growth hormone and IGF-1. However, their insulin le
Publikováno v:
J Diabetes Complications
The endoplasmic reticulum (ER) lies at the crossroads of protein folding, calcium storage, lipid metabolism, and the regulation of autophagy and apoptosis. Accordingly, dysregulation of ER homeostasis leads to β-cell dysfunction in type 1 and type 2
Autor:
Kelly Kries, Stephen I. Stone, Gregory P. Van Stavern, Ashley N Simpson, Cris M. Brown, Bess A. Marshall, Robert C. Bucelli, Fumihiko Urano, Neil H. White, Damien Abreu, Toni S. Pearson, Lawrence Tychsen, Hongjie Gu, Tamara Hershey
Publikováno v:
Diabetes. 68
Wolfram syndrome is a rare, progressive neurodegenerative disorder characterized by juvenile-onset diabetes, optic nerve atrophy and mutation of the WFS1 gene. Calcium dyshomeostasis is a key mechanism underlying neuronal and pancreatic β-cell death