Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects

European Journal of Human Genetics

Volumn 18, Issue 4, 2010, Pages 414-420

  Wouters, Vinciane ^a   Limaye, Nisha ^a   Uebelhoer, Melanie ^a   Irrthum, Alexandre ^a   Boon, Laurence M ^a,b   Mulliken, John B ^c   Enjolras, Odile ^d   Baselga, Eulalia ^e   Berg, Jonathan ^f   Dompmartin, Anne ^g   Ivarsson, Sten A ^h   Kangesu, Loshan ⁱ   Lacassie, Yves ^j   Murphy, Jill ^k   Teebi, Ahmad S ^k   Penington, Anthony ^l   Rieu, Paul ^m   Vikkula, Miikka ^a  

^a DE DUVE INSTITUTE   (Belgium)

^b UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d HÔPITAL LARIBOISIÈRE   (France)

^e HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^f KING'S COLLEGE LONDON   (United Kingdom)

^g CAEN UNIVERSITY HOSPITAL   (France)

^h Universitetssjukhuset   (Sweden)

ⁱ St Andrews Centre for Plastic Surgery and Burns   (United Kingdom)

^j CHILDREN S HOSPITAL   (United States)

^k HOSPITAL FOR SICK CHILDREN   (Canada)

^l UNIVERSITY OF MELBOURNE   (Australia)

^m RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

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Author keywords

Angiogenesis; Genetic; Hyperphosphorylation; TEK; Vascular anomaly; VMCM

Indexed keywords

ANGIOPOIETIN RECEPTOR; MESSENGER RNA; PROTEIN TYROSINE KINASE;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CARBOXY TERMINAL SEQUENCE; CELL FUNCTION; CELL STRAIN COS7; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; CUTANEOMUCOSAL VENOUS MALFORMATION; ENDOTHELIUM CELL; FEMALE; GENE MUTATION; GENE OVEREXPRESSION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MALE; MUTATIONAL ANALYSIS; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SKIN BLOOD VESSEL; VEIN MALFORMATION;

EID: 77949657364     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.193     Document Type: Article

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