Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome

Autor: Kara E. Boodhansingh, Elizabeth Rosenfeld, Katherine Lord, N. Scott Adzick, Tricia Bhatti, Arupa Ganguly, Diva D. De Leon, Charles A. Stanley

Publikováno v: Hormone Research in Paediatrics. 95:492-498

Introduction: The hyperinsulinemia-hyperammonemia syndrome (HIHA) is the second most common cause of congenital hyperinsulinism and is caused by activating heterozygous missense mutations in GLUD1. In the majority of HIHA cases, the GLUD1 mutation is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::52d4b797c184a3f1ac8022e7fa6f414a
https://doi.org/10.1159/000526203

Novel dominant KATPchannel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping

Autor: Kara E. Boodhansingh, Balamurugan Kandasamy, Show Ling Shyng, Lauren Mitteer, Diva D. De León, Arupa Ganguly, Stephanie Givler, Charles A. Stanley

Publikováno v: American Journal of Medical Genetics. Part a

Inactivating mutations in the genes encoding the two subunits of the pancreatic beta‐cell KATP channel, ABCC8 and KCNJ11, are the most common finding in children with congenital hyperinsulinism (HI). Interpreting novel missense variants in these ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6da8b55c74039c1caadba269e111e58a
https://doi.org/10.1002/ajmg.a.61335

Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets

Autor: Diva D. De León, Tricia R. Bhatti, N. Scott Adzick, Charles A. Stanley, Jonathan Schug, Ali Naji, Nicolai M. Doliba, Itzhak Nissim, Kara E. Boodhansingh, Mark J. Dunne, Chengyang Liu, Franz M. Matschinsky, Indraneel Banerjee, Changhong Li, Bing Han, Karen E. Cosgrove, Amanda M. Ackermann, Klaus H. Kaestner

Publikováno v: Diabetes
Li, C, Ackermann, A M, Boodhansingh, K E, Bhatti, T R, Liu, C, Schug, J, Doliba, N, Han, B, Cosgrove, K E, Banerjee, I, Matschinsky, F M, Nissim, I, Kaestner, K H, Naji, A, Adzick, N S, Dunne, M J, Stanley, C A & De León, D D 2017, ' Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets ', Diabetes, vol. 66, no. 7, pp. 1901-1913 . https://doi.org/10.2337/db17-0029

Loss-of-function mutations of β-cell KATP channels cause the most severe form of congenital hyperinsulinism (KATPHI). KATPHI is characterized by fasting and protein-induced hypoglycemia that is unresponsive to medical therapy. For a better understan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38e1a6c3e98df2ea61c56442d8a9c0f6
https://doi.org/10.2337/db17-0029

Molecular Diagnosis of Congenital Hyperinsulinism

Autor: Kara E. Boodhansingh, Emilie Lalonde, Sarah E. Flanagan, Arupa Ganguly

Publikováno v: Congenital Hyperinsulinism ISBN: 9783030029609

Congenital hyperinsulinism (HI) has been associated with mutations in nine genes involved in beta cell function and insulin secretion. Accurate and timely genetic diagnosis is clinically important for patients since understanding the underlying genet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1e4ab3d6199c10ae0568b66084550c7e
https://doi.org/10.1007/978-3-030-02961-6_5

Hyperinsulinism of Kabuki Syndrome: Clinical Characteristics and Treatments

Autor: Katherine Lord, Laureen Mitteer, Diva D. De León, Heather McNight, Kara E. Boodhansingh, Charles A. Stanley, Amanda M. Ackermann, Kosuke Izumi

Publikováno v: Journal of Pediatric Nursing. 52:107

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::17c7fadab5a0cbf3e37d2fa71a054c18
https://doi.org/10.1016/j.pedn.2020.02.014