Zobrazeno 1 - 2
of 2
pro vyhledávání: '"MESH: Cataract / genetics"'
Autor:
Caroline Michot, Julie Plaisancié, Marta Corton, Edouard Cottereau, Julian Delanne, Nicolas Chassaing, Nicola K. Ragge, Jacmine Pechmeja, Celia Zazo Seco, P Calvas, Tatiana Lupasco, Carmen Ayuso
Publikováno v:
Ophthalmic Genetics
Ophthalmic Genetics, Taylor & Francis, 2018, 39 (3), pp.314-320. ⟨10.1080/13816810.2018.1430243⟩
Ophthalmic Genetics, 2018, 39 (3), pp.314-320. ⟨10.1080/13816810.2018.1430243⟩
Ophthalmic Genetics, Taylor & Francis, 2018, 39 (3), pp.314-320. ⟨10.1080/13816810.2018.1430243⟩
Ophthalmic Genetics, 2018, 39 (3), pp.314-320. ⟨10.1080/13816810.2018.1430243⟩
Background: Congenital cataract displays large phenotypic (syndromic and isolated cataracts) and genetic heterogeneity. Mutations in several transcription factors involved in eye development, like PITX3, have been associated with congenital cataracts
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3b2f8c95d544a4df8f885a3915e4edb
Autor:
Patricia Ramos, María José Sánchez-Soler, Alison Stewart, Nicolas Chassaing, Jonathan Bruty, Patrick Calvas, Domingo Aguilera-Garcia, Helen Stewart, Dominic J. McMullan, Dorine Bax, Yvonne Wallis, Alan Fryer, Anand Saggar, Carmen Ayuso, Cristina Villaverde, Fabiola Ceroni, Marta Corton, Luciana Rodrigues Jacy da Silva, Lisa Cooper-Charles, Michael J. Griffiths, Victoria McKay, Jonathan Hoffman, Maria Tarilonte, David J. Bunyan, María Juliana Ballesta-Martínez, Nicola K. Ragge, Richard J. Holt, Katherine Lachlan, Fiona Blanco-Kelly, Joelle Roume, Pascal Dureau
Publikováno v:
Human Genetics
Human Genetics, 2019, 138 (8-9), pp.1027-1042. ⟨10.1007/s00439-018-1875-2⟩
Human Genetics, 2019, 138 (8-9), pp.1027-1042. ⟨10.1007/s00439-018-1875-2⟩
International audience; GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset cataracts in humans and animal models. In mice, missense mutations and ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::122f27747b3dc12ebac73973e54e0086
https://ut3-toulouseinp.hal.science/hal-03542896
https://ut3-toulouseinp.hal.science/hal-03542896