Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ashley N. Pastore"'
Autor:
Craig L. Hanis, Benjamin Glaser, Gil Atzmon, Soo-Young Park, Janna F. Wilson, Jessica L. Hwang, Ashley N. Pastore, Xiaoming Liu, Louis H. Philipson, May Sanyoura, Daniela del Gaudio, Siri Atma W. Greeley, David Carmody, Honggang Ye
Publikováno v:
Pediatric diabetes. 19(3)
Diabetes occurs in 1/90 000 to 1/160 000 births and when diagnosed under 6 months of age is very likely to have a primary genetic cause. FOXP3 encodes a transcription factor critical for T regulatory cell function and mutations are known to cause "im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e433f7bca909811e5dfdffbe03881b8e
https://pubmed.ncbi.nlm.nih.gov/29193502
https://pubmed.ncbi.nlm.nih.gov/29193502
Autor:
R. Martin, Louis H. Philipson, Jessica L. Hwang, Megan N. Scott, Rochelle N. Naylor, K. A. Landmeier, Siri Atma W. Greeley, David Carmody, Lisa R. Letourneau, Michael E. Msall, Scott J. Hunter, Ashley N. Pastore
Publikováno v:
Diabetic medicine : a journal of the British Diabetic Association. 33(10)
Aims KCNJ11-related diabetes is the most common form of permanent neonatal diabetes and has been associated with a spectrum of neurodevelopmental problems. We compared neurodevelopmental outcomes in patients with KCNJ11 mutations and their sibling co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc2e05dece3afaffc5284cd6ee6d44a0
https://pubmed.ncbi.nlm.nih.gov/28477417
https://pubmed.ncbi.nlm.nih.gov/28477417
Autor:
Julie, Støy, Siri Atma W, Greeley, Veronica P, Paz, Honggang, Ye, Ashley N, Pastore, Kinga B, Skowron, Rebecca B, Lipton, Fran R, Cogen, Graeme I, Bell, Louis H, Philipson, W, Zipf
Publikováno v:
Pediatric Diabetes. 9:450-459
Mutations in KCNJ11, ABCC8, or INS are the cause of permanent neonatal diabetes mellitus in about 50% of patients diagnosed with diabetes before 6 months of age and in a small fraction of those diagnosed between 6 and 12 months. The aim of this study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cd90e3f2c210ffb113f01407a7f30ab
https://doi.org/10.1111/j.1399-5448.2008.00433.x
https://doi.org/10.1111/j.1399-5448.2008.00433.x
Autor:
Brian W, Thurber, David, Carmody, Elizabeth C, Tadie, Ashley N, Pastore, Jazzmyne T, Dickens, Kristen E, Wroblewski, Rochelle N, Naylor, Louis H, Philipson, Siri Atma W, Greeley, W, Zipf
Publikováno v:
Diabetologia. 58(7)
Individuals with heterozygous activating mutations of the KCNJ11 gene encoding a subunit of the ATP-sensitive potassium channel (KATP) can usually be treated with oral sulfonylurea (SU) pills in lieu of insulin injections. The aim of this study was t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c76e9434d4655248caaa63bf0f870c7
https://pubmed.ncbi.nlm.nih.gov/25877689
https://pubmed.ncbi.nlm.nih.gov/25877689