Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Anthula Kavo"'
Autor:
Nadjet Gacem, Anthula Kavo, Lisa Zerad, Laurence Richard, Stephane Mathis, Raj P. Kapur, Melanie Parisot, Jeanne Amiel, Sylvie Dufour, Pierre de la Grange, Veronique Pingault, Jean Michel Vallat, Nadege Bondurand
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
ADAR1 is an RNA editing protein known to regulate immune responses to dsRNA that has been connected to neural crest cell function. Here, the authors show RNA editing by ADAR1 is important for the normal development of neural crest derived melanocytes
Externí odkaz:
https://doaj.org/article/79a56e3cdbac4d50bb37d28f7c7a9f8e
Autor:
Yuli Watanabe, Nadege Bondurand, Anthula Kavo, Laure Lecerf, Macarena Ruiz-Ferrer, Viviane Baral, Asma Chaoui, Salud Borrego, Veronique Pingault
Publikováno v:
Human Mutation. 35:303-307
A deletion encompassing several SOX10 enhancers was recently identified in a patient presenting with Waardenburg syndrome type 4 (WS4), which is defined as a combination of Hirschsprung disease (HSCR, intestinal aganglionosis) and WS (deafness and pi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1939ed2eb32e079eae06f91b2b607518
https://doi.org/10.1002/humu.22499
https://doi.org/10.1002/humu.22499
Autor:
Viviane Baral, Roberto Mendoza-Londono, Asma Chaoui, Yuli Watanabe, Veronique Pingault, Laure Lecerf, Anthula Kavo, Alison Colley, Nadege Bondurand
Publikováno v:
Human molecular genetics. 24(17)
SOX10 is a transcription factor with well-known functions in neural crest and oligodendrocyte development. Mutations in SOX10 were first associated with Waardenburg-Hirschsprung disease (WS4; deafness, pigmentation defects and intestinal aganglionosi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21971d7e705ba80a8a809628ec2332ee
https://pubmed.ncbi.nlm.nih.gov/26060192
https://pubmed.ncbi.nlm.nih.gov/26060192