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

doi:10.1016/j.ajhg.2015.03.001

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

American journal of human genetics - 7 May 2015

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

Abstract excerpt

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 transactivation domain of the v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF), a leucine...

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PMID: 25865493
DOI: 10.1016/j.ajhg.2015.03.001
PMCID: PMC4570552

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