Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Joubert syndrome (JBTS), related disorders (JSRD) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and JBTS2 loci are allelic and due to mutations in TMEM216, encoding an uncharacterized tetraspan transmembrane protein. JBTS2 patients displayed frequent nephronophthisis and polyda...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Valente, Enza Maria, Logan, Clare V., Mougou-Zerelli, Soumaya, Lee, Jeong Ho, Silhavy, Jennifer L., Brancati, Francesco, Iannicelli, Miriam, Travaglini, Lorena, Romani, Sveva, Illi, Barbara, Adams, Matthew, Szymanska, Katarzyna, Mazzotta, Annalisa, Lee, Ji Eun, Tolentino, Jerlyn C., Swistun, Dominika, Salpietro, Carmelo D., Fede, Carmelo, Gabriel, Stacey, Russ, Carsten, Cibulskis, Kristian, Sougnez, Carrie, Hildebrandt, Friedhelm, Otto, Edgar A., Held, Susanne, Diplas, Bill H., Davis, Erica, Mikula, Mario, Strom, Charles M., Ben-Ze’ev, Bruria, Lev, Dorit, Sagie, Tally Lerman, Michelson, Marina, Yaron, Yuval, Krause, Amanda, Boltshauser, Eugen, Elkhartoufi, Nadia, Roume, Joelle, Shalev, Stavit, Munnich, Arnold, Saunier, Sophie, Inglehearn, Chris, Saad, Ali, Alkindy, Adila, Thomas, Sophie, Vekemans, Michel, Dallapiccola, Bruno, Katsanis, Nicholas, Johnson, Colin A., Attié-Bitach, Tania, Gleeson, Joseph G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2894012/
https://ncbi.nlm.nih.gov/pubmed/20512146
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.594
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados