Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies

American Journal of Human Genetics

Volumn 96, Issue 5, 2015, Pages 816-825

  Niceta, Marcello ^a,b   Stellacci, Emilia ^a   Gripp, Karen W ^c   Zampino, Giuseppe ^d   Kousi, Maria ^e   Anselmi, Massimiliano ^f   Traversa, Alice ^a,g   Ciolfi, Andrea ^a   Stabley, Deborah ^c   Bruselles, Alessandro ^a   Caputo, Viviana ^g   Cecchetti, Serena ^a   Prudente, Sabrina ^h   Fiorenza, Maria T ⁱ   Boitani, Carla ^g   Philip, Nicole ^j   Niyazov, Dmitriy ^k   Leoni, Chiara ^d   Nakane, Takaya ^l   Keppler Noreuil, Kim ^m   Braddock, Stephen R ⁿ   Gillessen Kaesbach, Gabriele ^o   Palleschi, Antonio ^f   Campeau, Philippe M ^p   Lee, Brendan H L ^q   Pouponnot, Celio ^r   Stella, Lorenzo ^f   Bocchinfuso, Gianfranco ^f   Katsanis, Nicholas ^e   Sol Church, Katia ^c   Tartaglia, Marco ^a,b   more..

^a ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^d CATHOLIC UNIVERSITY   (Italy)

^e DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF ROME TOR VERGATA   (Italy)

^g SAPIENZA UNIVERSITY OF ROME   (Italy)

^h CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

ⁱ SAPIENZA UNIVERSITY OF ROME   (Italy)

^j TIMONE HOSPITAL   (France)

^k OCHSNER CLINIC FOUNDATION   (United States)

^l UNIVERSITY OF YAMANASHI   (Japan)

^m NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

ⁿ SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^o UNIVERSITY OF LÜBECK   (Germany)

^p UNIVERSITY OF MONTREAL   (Canada)

^q BAYLOR COLLEGE OF MEDICINE   (United States)

^r INSTITUT CURIE   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR MAF; GLYCOGEN SYNTHASE KINASE 3; MAF PROTEIN, HUMAN; TRANSCRIPTION FACTOR C MAF;

AMINO ACID SUBSTITUTION; ARTICLE; AYME GRIPP SYNDROME; BRACHYCEPHALY; BREAST HYPOPLASIA; CATARACT; DOWN SYNDROME; FACIES; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; IN VIVO STUDY; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; NERVE CELL DIFFERENTIATION; NONHUMAN; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN PHOSPHORYLATION; SEIZURE; SKIN FIBROBLAST; TRANSACTIVATION; UBIQUITINATION; GENETICS; MUTATION; PATHOLOGY; PHOSPHORYLATION;

AVES;

CATARACT; DEAFNESS; DOWN SYNDROME; GLYCOGEN SYNTHASE KINASE 3; HUMANS; INTELLECTUAL DISABILITY; MUTATION; PHENOTYPE; PHOSPHORYLATION; PROTO-ONCOGENE PROTEINS C-MAF; SEIZURES;

EID: 84929289243     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.03.001     Document Type: Article

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