Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy

Human Molecular Genetics

Volumn 25, Issue 8, 2016, Pages 1637-1647

  Wu, Jeng Hung ^a   Liu, Jorn Hon ^b   Ko, Yu Chieh ^a,c   Wang, C T Chi Tang ^a   Chung, Yu Chien ^c   Chu, Kuo Chang ^d   Liu, Tze Tze ^a   Chao, Hsiao Ming ^b   Jiang, Yun Jin ^d   Chen, Shih Jen ^c   Chung, Ming Yi ^a,c  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b CHENG HSIN GENERAL HOSPITAL   (Taiwan)

^c TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^d NATIONAL HEALTH RESEARCH INSTITUTES   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

BETA CATENIN; LUCIFERASE; PROTEIN; RCBTB1 PROTEIN; SHORT HAIRPIN RNA; UNCLASSIFIED DRUG; WNT3A PROTEIN; EYE PROTEIN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; NDP PROTEIN, HUMAN; NERVE PROTEIN; RCBTB1 PROTEIN, HUMAN;

ANIMAL EXPERIMENT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EMBRYO; EXOME; EXUDATIVE RETINITIS; FAMILIAL DISEASE; FAMILIAL EXUDATIVE VITREORETINOPATHY; FEMALE; FRAMESHIFT MUTATION; GENE SEQUENCE; GENE SILENCING; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMAN; LUCIFERASE ASSAY; LYMPHOBLASTOID CELL LINE; MALE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; TAIWANESE; TRANSGENIC FISH; TRANSIENT TRANSFECTION; VITREORETINOPATHY; ZEBRA FISH; ANGIOGENESIS; CELL LINE; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETICS; METABOLISM; PROCEDURES; RETINA DISEASE; RETINAL TELANGIECTASIA; TAIWAN; WNT SIGNALING PATHWAY;

CELL LINE; EXOME; EYE PROTEINS; FEMALE; FRAMESHIFT MUTATION; GENETIC PREDISPOSITION TO DISEASE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HAPLOINSUFFICIENCY; HUMANS; MALE; NEOVASCULARIZATION, PHYSIOLOGIC; NERVE TISSUE PROTEINS; RETINAL DISEASES; RETINAL TELANGIECTASIS; SEQUENCE ANALYSIS, DNA; TAIWAN; WNT SIGNALING PATHWAY;

EID: 84963752860     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddw041     Document Type: Article

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