Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ferechté Encha-Ravazi"'
Autor:
Kevin Piquand, Nadia Elkhartoufi, Patrick Nitschke, Sophie Saunier, Meriem Garfa-Traore, Mathilde Nizon, Caroline Alby, Céline Huber, Marine Legendre, Bettina Bessières, Françoise Clerget-Darpoux, Valérie Cormier-Daire, Fanny Pelluard, Ferechté Encha-Ravazi, Arnold Munnich, André Mégarbané, Nicole Laurent, Tania Attié-Bitach, Salima El Chehadeh-Djebbar, Melinda Zombor, Sophie Thomas, Georges Abi-Tayeh, Laurence Faivre, Amale Ichkou, Michel Vekemans, Hajnalka Szabó, Christine Bole, Marion Failler, Stanislas Lyonnet, László Sztriha
KIAA0586, the human ortholog of chicken TALPID3, is a centrosomal protein that is essential for primary ciliogenesis. Its disruption in animal models causes defects attributed to abnormal hedgehog signaling; these defects include polydactyly and abno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31e43bc3aacda197b6af15ac6a5008b9
https://europepmc.org/articles/PMC4573267/
https://europepmc.org/articles/PMC4573267/
Autor:
Tania Attié-Bitach, Sophie Saunier, Mandy Kwong, Nadia Elkhartoufi, Enza Maria Valente, Isabelle Perrault, Joseph G. Gleeson, Alessia Micalizzi, Stéphanie Le Corre, Marta Romani, Julie Litzler, Lydie Burglen, Iain A. Drummond, Kevin J. Wright, Avinash Abhyankar, Julien Saada, Jean-Laurent Casanova, Stanislas Lyonnet, Nathalie Boddaert, Nicolas Chassaing, Arnold Munnich, Jeanne Amiel, Peter K. Jackson, Emilie Filhol, Michel Vekemans, Ferechté Encha-Ravazi, Wolfgang Baehr, Sophie Thomas
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2014, 35 (1), pp.137-146. ⟨10.1002/humu.22470⟩
Human Mutation, Wiley, 2014, 35 (1), pp.137-146. ⟨10.1002/humu.22470⟩
International audience; Joubert syndrome (JS) is characterized by a distinctive cerebellar structural defect, namely the << molar tooth sign >>. JS is genetically heterogeneous, involving 20 genes identified to date, which are all required for cilia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ea54b2a50db5d77c8971d0cf7982565
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03240698
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03240698