The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia

Nature Genetics

Volumn 38, Issue 11, 2006, Pages 1245-1247

  Blaydon, Diana C ^a   Ishii, Yoshiyuki ^b   O'Toole, Edel A ^a   Unsworth, Harriet C ^a   Teh, Muy Teck ^a   Rüschendorf, Franz ^c   Sinclair, Claire ^a   Hopsu Havu, Väinö K ^d   Tidman, Nicholas ^e   Moss, Celia ^f   Watson, Rosemarie ^g   De Berker, David ^h   Wajid, Muhammad ^b   Christiano, Angela M ^b   Kelsell, David P ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b Columbia University College of Physicians and Surgeons ^*  (United States)

^c MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^d TURKU UNIVERSITY HOSPITAL   (Finland)

^e IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^f BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^g OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^h BRISTOL ROYAL INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN R SPONDIN 4; THROMBOSPONDIN; UNCLASSIFIED DRUG; WNT PROTEIN;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ANONYCHIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 20P; CONGENITAL HYPONYCHIA; CONTROLLED STUDY; EMBRYO; FAMILY STUDY; GENE MUTATION; GENETIC LINKAGE; HUMAN; MOUSE; NAIL HYPOPLASIA; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SIGNAL TRANSDUCTION;

AMINO ACID SEQUENCE; ANIMALS; HUMANS; MICE; MICE, TRANSGENIC; MOLECULAR SEQUENCE DATA; MUTATION; NAILS, MALFORMED; SEQUENCE HOMOLOGY, AMINO ACID; SIGNAL TRANSDUCTION; THROMBOSPONDINS; WNT PROTEINS;

EID: 33750479526     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1883     Document Type: Article

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