Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Amanda M. Ackermann"'
Autor:
Elizabeth Rosenfeld, Lauren Mitteer, Kara Boodhansingh, Susan A. Becker, Heather McKnight, Linda Boyajian, Amanda M. Ackermann, Jennifer M. Kalish, Tricia R. Bhatti, Lisa J. States, N. Scott Adzick, Katherine Lord, Diva D. De León
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Focal hyperinsulinism (HI) comprises nearly 50% of all surgically treated HI cases and is cured if the focal lesion can be completely resected. Pre-operative localization of the lesion is thus critical. Few cases of hyperinsulinism with multiple foca
Externí odkaz:
https://doaj.org/article/dfeef1e5266448e4b52a61e25d8120bc
Autor:
Sunghee Chai, Youngjin Kim, Feorillo Galivo, Craig Dorrell, Leslie Wakefield, Jeffrey Posey, Amanda M. Ackermann, Klaus H. Kaestner, Matthias Hebrok, Markus Grompe
Publikováno v:
Human gene therapy. 33(15-16)
Diabetes mellitus, caused by loss or dysfunction of the insulin-producing beta cells of the pancreas, is a promising target for recombinant adeno-associated virus (rAAV)-mediated gene therapy. To target potential therapeutic payloads specifically to
Publikováno v:
Molecular Metabolism, Vol 6, Iss 3, Pp 236-244 (2017)
Objective: α-cells are the second most prominent cell type in pancreatic islets and are responsible for producing glucagon to increase plasma glucose levels in times of fasting. α-cell dysfunction and inappropriate glucagon secretion occur in both
Externí odkaz:
https://doaj.org/article/ec3e97e727284819bc25c8c10cffade8
Publikováno v:
Molecular Metabolism, Vol 5, Iss 3, Pp 233-244 (2016)
Objective: Although glucagon-secreting α-cells and insulin-secreting β-cells have opposing functions in regulating plasma glucose levels, the two cell types share a common developmental origin and exhibit overlapping transcriptomes and epigenomes.
Externí odkaz:
https://doaj.org/article/c96d9ce03ffa4f6b8e25571b649a87f0
Autor:
Alyssa L. Ritter, Jessica Gold, Hiroshi Hayashi, Amanda M. Ackermann, Stephanie Hanke, Cara Skraban, Sanmati Cuddapah, Elizabeth Bhoj, Dong Li, Yukiko Kuroda, Jessica Wen, Ryojun Takeda, Audrey Bibb, Salima El Chehadeh, Amélie Piton, Jeanine Ohl, Mary K. Kukolich, Keisuke Nagasaki, Kohji Kato, Tomoo Ogi, Tricia Bhatti, Pierre Russo, Bryan Krock, Jill R. Murrell, Jennifer A. Sullivan, Vandana Shashi, Nicholas Stong, Hakon Hakonarson, Kentaro Sawano, Erin Torti, Rebecca Willaert, Yue Si, William Ross Wilcox, Katrine Verena Wirgenes, Kristian Thomassen, Katherine Carlotti, Angelika Erwin, Joanna Lazier, Thorsten Marquardt, Miao He, Andrew C. Edmondson, Kosuke Izumi
Publikováno v:
Genet Med
PURPOSE: This study aimed to describe the phenotypic and molecular characteristics of ARCN1-related syndrome. METHODS: Patients with ARCN1 variants were identified, and clinician researchers were connected using GeneMatcher and physician referrals. C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86f4d63eea8ccc80eff372d25a1e057
https://europepmc.org/articles/PMC9923403/
https://europepmc.org/articles/PMC9923403/
Autor:
Abigail Ridler, Kyoung-Jae Won, Batoul Hammoud, Juxiang Yang, Amanda M. Ackermann, Charles A. Stanley, Toshinori Hoshi, Diana E. Stanescu
Hypoxic insults in the perinatal period can lead to persistent hyperinsulinism and profound hypoglycemia in newborns. We studied the impact of the hypoxia-inducible factor 1A (HIF1A) pathway on postnatal β-cell function. Rat pups were treated daily
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e42f772d28bbf62b352771efccb935b6
https://doi.org/10.1101/2021.06.09.447705
https://doi.org/10.1101/2021.06.09.447705
Autor:
Miao He, Amanda M. Ackermann, Eva Morava, Jie Chen, Andrew C. Edmondson, Michael J. Bennett, Kosuke Izumi, Xueli Li, Gail Ditewig Meyers, Can Ficicioglu
Publikováno v:
Clinical Chemistry. 65:653-663
BACKGROUND Congenital disorders of glycosylation (CDG) represent 1 of the largest groups of metabolic disorders with >130 subtypes identified to date. The majority of CDG subtypes are disorders of N-linked glycosylation, in which carbohydrate residue
Autor:
Shanelle J De Lancy, Lori-Anne Schillaci, Tricia R. Bhatti, Rawah K H M Zeiad, Demitrios Dedousis, Amanda M. Ackermann, Maricruz Crespo, Jamie R Wood, Edwin C Ferren, Jirair K. Bedoyan, Shahrazad T. Saab, Denise D Young, Raymond W. Redline
Publikováno v:
Journal of the Endocrine Society
Aminoacyl-tRNA synthetases (ARSs) are crucial enzymes for protein translation. Mutations in genes encoding ARSs are associated with human disease. Tyrosyl-tRNA synthetase is encoded by YARS which is ubiquitously expressed and implicated in an autosom
Autor:
Miao He, Jozef Hertecant, Jolanta Sykut-Cegielska, Nurulamin Abu Bakar, Sunnie Yan Wai Wong, Francis Bowling, David Nguyen, Stefanie Perez, Tim L. Emmerzaal, Katja S. Brocke Holmefjord, Jaak Jaeken, Kea Crivelly, Gernot Poschet, Dieter Koch, Amanda M. Ackermann, Eva Morava, François Foulquier, Dirk Lefeber, Hana Hansikova, Nicole Peeters, Marit Mork, K. Michael Gibson, Kimiyo Raymond, Therese Gadomski, Graeme Preston, Christian Thiel, Monique van Scherpenzeel, Tomas Honzik, Tamas Kozicz
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine
Genetics in Medicine, 2017, Genetics in Medicine. Official Journal of the American College of Medical Genetics, 19 (11), pp.1226-1235. ⟨10.1038/gim.2017.41⟩
Genetics in Medicine, 19, 11, pp. 1226-1235
Genetics in Medicine, 19, 1226-1235
Genetics in Medicine
Genetics in Medicine, 2017, Genetics in Medicine. Official Journal of the American College of Medical Genetics, 19 (11), pp.1226-1235. ⟨10.1038/gim.2017.41⟩
Genetics in Medicine, 19, 11, pp. 1226-1235
Genetics in Medicine, 19, 1226-1235
Contains fulltext : 181642.pdf (Publisher’s version ) (Closed access) PurposePhosphoglucomutase-1 deficiency is a subtype of congenital disorders of glycosylation (PGM1-CDG). Previous casereports in PGM1-CDG patients receiving oral D-galactose (D-g
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
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