Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis

Human Mutation

Volumn 33, Issue 2, 2012, Pages 440-447

  Robinson, Alexis ^a   Escuin, Sarah ^a   Vekemans, Kit Doudney ^a,b,d   Stevenson, Roger E ^c   Greene, Nicholas D E ^a   Copp, Andrew J ^a   Stanier, Philip ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b INSERM   (France)

^c GREENWOOD GENETIC CENTER   (United States)

^d UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

Celsr1; Craniorachischisis; Neural tube defects; Planar cell polarity; Scrib

Indexed keywords

CELSR1 PROTEIN; PRICKLE1 PROTEIN; PROTEIN; PTK7 PROTEIN; SCRIB PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CELL MEMBRANE; CELL POLARITY; CELL TRANSPORT; CLINICAL ARTICLE; CONTROLLED STUDY; CRANIORACHISCHISIS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MOLECULAR MECHANICS; MOUSE; NEURAL TUBE DEFECT; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION;

ANIMALS; CADHERINS; CELL LINE; DOGS; FETUS; GENE ORDER; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOPRECIPITATION; MEMBRANE PROTEINS; MUTATION; MUTATION, MISSENSE; NEURAL TUBE DEFECTS; PROTEIN TRANSPORT; TUMOR SUPPRESSOR PROTEINS;

MUS;

EID: 84857782607     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21662     Document Type: Article

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