Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

Human Mutation

Volumn 31, Issue 6, 2010, Pages 656-666

  Nikopoulos, Konstantinos ^a,b   Venselaar, Hanka ^a,b   Collin, Rob W J ^a,b   Riveiro Alvarez, Rosa ^c,d   Boonstra, F Nienke ^e   Hooymans, Johanna M M ^f   Mukhopadhyay, Arijit ^a,b,g   Shears, Deborah ^h   Van Bers, Marleen ^a   De Wijs, Ilse J ^a   Van Essen, Anthonie J ^f   Sijmons, Rolf H ^f   Tilanus, Mauk A D ^a   Van Nouhuys, C Erik ⁱ   Ayuso, Carmen ^c,d   Hoefsloot, Lies H ^a   Cremers, Frans P M ^a,b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c CMBI Radboud University Nijmegen Medical Centre ^*  (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^e Bartimeus Institute for the Visually Impaired   (Netherlands)

^f UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^g CSIR INSTITUTE OF GENOMICS AND INTEGRATIVE BIOLOGY   (India)

^h CHURCHILL HOSPITAL   (United Kingdom)

ⁱ CANISIUS WILHELMINA HOSPITAL   (Netherlands)

Author keywords

Familial exudative vitreoretinopathy; FEVR; FZD4; LRP5; ND; NDP; Norrie disease

Indexed keywords

ARGININE; BETA CATENIN; CYSTEINE; FRIZZLED PROTEIN; GLUTAMIC ACID; GLYCINE; LEUCINE; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; LYSINE; NORRIE DISEASE PROTEIN; PEPTIDES AND PROTEINS; PHENYLALANINE; PROTEIN FRIZZLED 4; UNCLASSIFIED DRUG; WNT PROTEIN; EYE PROTEIN; FZD4 PROTEIN, HUMAN; G PROTEIN COUPLED RECEPTOR; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN; LRP5 PROTEIN, HUMAN; LRP5 PROTEIN, MOUSE; NDP PROTEIN, HUMAN; NERVE PROTEIN;

CALCIUM SIGNALING; DNA POLYMORPHISM; FAMILIAL EXUDATIVE VITREORETINOPATHY; GENETIC VARIABILITY; MISSENSE MUTATION; NONHUMAN; NORRIE DISEASE; OCULAR BLOOD VESSEL; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN MOTIF; RETINA DEVELOPMENT; REVIEW; SIGNAL TRANSDUCTION; VASCULARIZATION; VITREORETINOPATHY; ANIMAL; BINDING SITE; CHEMICAL STRUCTURE; CHEMISTRY; DISEASE MODEL; FAMILY HEALTH; GENETICS; HUMAN; METABOLISM; MOUSE; MUTATION; PROTEIN SECONDARY STRUCTURE; PROTEIN TERTIARY STRUCTURE; RETINA DISEASE;

ANIMALS; BINDING SITES; DISEASE MODELS, ANIMAL; EYE PROTEINS; FAMILY HEALTH; FRIZZLED RECEPTORS; HUMANS; LDL-RECEPTOR RELATED PROTEINS; LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN-5; MICE; MODELS, MOLECULAR; MUTATION; NERVE TISSUE PROTEINS; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, G-PROTEIN-COUPLED; RETINAL DISEASES; SIGNAL TRANSDUCTION; VITREORETINOPATHY, PROLIFERATIVE; WNT PROTEINS;

EID: 77952703976     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21250     Document Type: Review

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