Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Rosemary Grabs"'
Autor:
Alexander Dionyssopoulos, Maria P. Yavropoulou, John G. Yovos, Constantin Polychronakos, Kalliopi Kotsa, Rosemary Grabs, Kyriakos Kazakos
Publikováno v:
Annals of Human Genetics. 76:296-300
Summary The maternally inherited 8344 A>G mutation in the mitochondrial Lys tRNA is classically associated with the myoclonic epilepsy, ragged-red muscle fiber (MERRF) syndrome. Multiple lipomatosis (Madelung's disease) is occasionally described. Her
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::702361e211f86f567c2a8ef5e7b0c54e
https://doi.org/10.1111/j.1469-1809.2012.00711.x
https://doi.org/10.1111/j.1469-1809.2012.00711.x
Publikováno v:
Diabetes. 47:831-836
Genetic studies have identified a number of loci demonstrating linkage to type 1 diabetes. One of the largest single contributors to genetic susceptibility, after the major histocompatability complex, is the IDDM2 locus, which maps to a nontranscribe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0f0e40a8d6e93451f2303e7cb815676
https://doi.org/10.2337/diabetes.47.5.831
https://doi.org/10.2337/diabetes.47.5.831
Autor:
Kyriakos, Kazakos, Kalliopi, Kotsa, Maria, Yavropoulou, Alexander, Dionyssopoulos, Rosemary, Grabs, John, Yovos, Constantin, Polychronakos
Publikováno v:
Annals of human genetics. 76(4)
The maternally inherited 8344 AG mutation in the mitochondrial Lys tRNA is classically associated with the myoclonic epilepsy, ragged-red muscle fiber (MERRF) syndrome. Multiple lipomatosis (Madelung's disease) is occasionally described. Here we repo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::23a8fed5e287434059cdee22f5d8fdee
https://pubmed.ncbi.nlm.nih.gov/22681518
https://pubmed.ncbi.nlm.nih.gov/22681518
Autor:
Rosemary Grabs, Jeffrey D. Johnson, Jacques Weill, Michael S. German, Stuart Smith, Constantin Polychronakos, Takeshi Miyatsuka, Nadine Taleb, Julie Désir, Juehu Wang, Hui-Qi Qu, Mattia Gentile, Marie Éve Renard, Nina Kishimoto, Yang Lu, Rennian Wang, Rina Seerke, Francis C. Lynn, Maria E. Wilson, Marc Abramowicz, John J. Mitchell, Nadine Kacet, Ann-Marie Patch, Inger Hansen, David W. Scheel, Serge Vanden Eijnden, Ken Dewar, Andrew T. Hattersley
Publikováno v:
Nature, vol 463, iss 7282
Nature
Paediatrics Publications
Nature
Paediatrics Publications
Insulin from the Β-cells of the pancreatic islets of Langerhans controls energy homeostasis in vertebrates, and its deficiency causes diabetes mellitus. During embryonic development, the transcription factor neurogenin 3 (Neurog3) initiates the diff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f37d5d263a2f0828fda5828d4da6e82b
https://escholarship.org/uc/item/9tn7x60n
https://escholarship.org/uc/item/9tn7x60n
The interferon regulatory factor 5 gene (IRF5) has been shown to play a crucial role in harmful immune responses by induction of proinflammatory cytokines. Functional genetic variants associated with increased IRF5 expression of specific isoforms are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f697967570635c84dd65bd7a5604eea
https://europepmc.org/articles/PMC2597969/
https://europepmc.org/articles/PMC2597969/