Two mutations in human BICC1 resulting in wnt pathway hyperactivity associated with cystic renal dysplasia

Human Mutation

Volumn 33, Issue 1, 2012, Pages 86-90

  Kraus, Marine R C ^a   Clauin, Séverine ^b   Pfister, Yvan ^a   Di Maïo, Massimo ^c   Ulinski, Tim ^d   Constam, Daniel ^a   Bellanné Chantelot, Christine ^b   Grapin Botton, Anne ^a  

^a EPFL   (Switzerland)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c POITIERS UNIVERSITY HOSPITAL   (France)

^d SORBONNE UNIVERSITÉ   (France)

Author keywords

BICC1; Diabetes; HNF1B; Renal cysts; Wnt

Indexed keywords

BICAUDAL C HOMOLOGUE 1 PROTEIN; RNA BINDING PROTEIN; UNCLASSIFIED DRUG; WNT PROTEIN;

ADULT; ARTICLE; CYSTIC RENAL DYSPLASIA; DIABETES MELLITUS; ECHOGRAPHY; FEMALE; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HYPERACTIVITY; KIDNEY CYST; KIDNEY DYSPLASIA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEWBORN; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN MOTIF;

ANIMALS; CARRIER PROTEINS; CHILD, PRESCHOOL; CODON, NONSENSE; EXONS; GENETIC TESTING; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; KIDNEY; MICE; MUTATION, MISSENSE; POLYCYSTIC KIDNEY DISEASES; PROTEIN STRUCTURE, TERTIARY; RNA-BINDING PROTEINS; WNT SIGNALING PATHWAY;

MUS;

EID: 84857692095     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21610     Document Type: Article

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