Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Caroline Stekelenburg"'
Autor:
Caroline Stekelenburg, Jean-Louis Blouin, Federico Santoni, Norann Zaghloul, Elisabeth A. O’Hare, Rodolphe Dusaulcy, Pierre Maechler, Valerie M. Schwitzgebel
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-15 (2022)
Abstract We identified two NEXMIF variants in two unrelated individuals with non-autoimmune diabetes and autistic traits, and investigated the expression of Nexmif in mouse and human pancreas and its function in pancreatic beta cells in vitro and in
Externí odkaz:
https://doaj.org/article/34e22b0932044412902bc1caf1277407
Autor:
Karolina Luczkowska, Caroline Stekelenburg, Frédérique Sloan-Béna, Emmanuelle Ranza, Giacomo Gastaldi, Valérie Schwitzgebel, Pierre Maechler
Publikováno v:
Human Genomics, Vol 14, Iss 1, Pp 1-8 (2020)
Abstract Background Gain-of-function mutations in the GLUD1 gene, encoding for glutamate dehydrogenase (GDH), result in the hyperinsulinism/hyperammonemia HI/HA syndrome. HI/HA patients present with harmful hypoglycemia secondary to protein-induced H
Externí odkaz:
https://doaj.org/article/4b782253b9a346d791f06fefdd06cabe
Autor:
Karolina Luczkowska, Caroline Stekelenburg, Frédérique Sloan-Béna, Emmanuelle Ranza, Giacomo Gastaldi, Valérie Schwitzgebel, Pierre Maechler
Publikováno v:
Human Genomics, Vol 15, Iss 1, Pp 1-1 (2021)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/2d3e7d981eb942bf96ea02caa9b53e24
Autor:
Caroline, Stekelenburg, Jean-Louis, Blouin, Federico, Santoni, Norann, Zaghloul, Elisabeth A, O'Hare, Rodolphe, Dusaulcy, Pierre, Maechler, Valerie M, Schwitzgebel
Publikováno v:
Scientific reports. 12(1)
We identified two NEXMIF variants in two unrelated individuals with non-autoimmune diabetes and autistic traits, and investigated the expression of Nexmif in mouse and human pancreas and its function in pancreatic beta cells in vitro and in vivo. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::835b4a7df05dacd1688fc566f57bfbba
https://pubmed.ncbi.nlm.nih.gov/35970867
https://pubmed.ncbi.nlm.nih.gov/35970867
Autor:
Michel Guipponi, Caroline Stekelenburg, Mariarosaria Lang-Muritano, Karine Gerster, Jean-Louis Blouin, Federico Santoni, Valerie M. Schwitzgebel
Publikováno v:
Pediatric Diabetes, Vol. 20, No 3 (2019) pp. 366-369
When diabetes is associated with congenital malformations, without autoimmune antibodies, a genetic cause is suspected. Here, we aimed to identify a defective gene that led to diabetes. We performed an exome analysis of an index case and his healthy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ccb6aa6c1c912e6bac6c6947542c54f
https://doi.org/10.1111/pedi.12814
https://doi.org/10.1111/pedi.12814
Autor:
Fred Santoni, Valerie M. Schwitzgebel, Jean-Louis Blouin, Norann A. Zaghloul, Caroline Stekelenburg, Elizabeth A. O'Hare
Publikováno v:
Diabetes. 67
Background/Introduction: Using whole exome sequencing we identified a truncating mutation in the KIAA2022 gene in a child with mental retardation and antibody-negative diabetes. The KIAA2022 gene encodes a large protein of 1516 amino acids, which has
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b18b124f06e562ec1fe25651e066cde
https://doi.org/10.2337/db18-1358-p
https://doi.org/10.2337/db18-1358-p
Autor:
Caroline Stekelenburg, Federico Santoni, Valerie M. Schwitzgebel, Philippe Klee, Jean-Louis Blouin, Sabrina Anderson de la Llana
Publikováno v:
Hormone Research in Paediatrics, Vol. 84, No 4 (2015)
Background: Transient and permanent neonatal diabetes mellitus (NDM), usually defined as diabetes diagnosed within the first 6 months of life, are rare conditions occurring in 1:90,000-260,000 live births. The origin of NDM is rarely related to type
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b667ef00db41149eb94579bf9308166
https://archive-ouverte.unige.ch/unige:76288
https://archive-ouverte.unige.ch/unige:76288
