Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Transcription factors operate in developmental processes to mediate inductive events and cell competence, and perturbation of their function or regulation can dramatically affect morphogenesis, organogenesis, and growth. We report that a narrow spectrum of amino-acid substitutions within the transac...

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Detalles Bibliográficos
Autores principales: Niceta, Marcello, Stellacci, Emilia, Gripp, Karen W., Zampino, Giuseppe, Kousi, Maria, Anselmi, Massimiliano, Traversa, Alice, Ciolfi, Andrea, Stabley, Deborah, Bruselles, Alessandro, Caputo, Viviana, Cecchetti, Serena, Prudente, Sabrina, Fiorenza, Maria T., Boitani, Carla, Philip, Nicole, Niyazov, Dmitriy, Leoni, Chiara, Nakane, Takaya, Keppler-Noreuil, Kim, Braddock, Stephen R., Gillessen-Kaesbach, Gabriele, Palleschi, Antonio, Campeau, Philippe M., Lee, Brendan H.L., Pouponnot, Celio, Stella, Lorenzo, Bocchinfuso, Gianfranco, Katsanis, Nicholas, Sol-Church, Katia, Tartaglia, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570552/
https://www.ncbi.nlm.nih.gov/pubmed/25865493
http://dx.doi.org/10.1016/j.ajhg.2015.03.001

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