A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling CrebA knockout mouse

Human Mutation

Volumn 33, Issue 4, 2012, Pages 651-654

  Kitazawa, Sohei ^a,b   Kondo, Takeshi ^a   Mori, Kiyoshi ^a   Yokoyama, Naoki ^a   Matsuo, Masafumi ^a   Kitazawa, Riko ^a,b  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b EHIME UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

CREB1; KIX KID; Phosphorylation; Translational research

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; E1A ASSOCIATED P300 PROTEIN; GENOMIC DNA;

ANIMAL EXPERIMENT; ARTICLE; AUTOPSY; CORPUS CALLOSUM AGENESIS; IN VITRO STUDY; KINASE INDUCIBLE DOMAIN; KNOCKOUT MOUSE; MISSENSE MUTATION; MOUSE; MULTIPLE MALFORMATION SYNDROME; NEONATAL RESPIRATORY DISTRESS SYNDROME; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN PHOSPHORYLATION; SIGNAL TRANSDUCTION; THYMUS DISEASE; THYMUS HYPOPLASIA; TRANSLATIONAL RESEARCH;

ABNORMALITIES, MULTIPLE; ANIMALS; BRAIN; CREB-BINDING PROTEIN; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; HUMANS; INFANT; MICE; MICE, MUTANT STRAINS; MUTATION, MISSENSE; PHOSPHORYLATION;

ANIMALIA;

EID: 84858282975     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22027     Document Type: Article

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