Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya

American Journal of Human Genetics

Volumn 88, Issue 6, 2011, Pages 718-728

  Miskinyte, Snaigune ^a   Butler, Matthew G ^b   Hervé, Dominique ^c   Sarret, Catherine ^d   Nicolino, Marc ^d   Petralia, Jacob D ^e   Bergametti, Francoise ^a   Arnould, Minh ^a   Pham, Van N ^b   Gore, Aniket V ^b   Spengos, Konstantinos ^f   Gazal, Steven ^g   Woimant, France ^c   Steinberg, Gary K ^e   Weinstein, Brant M ^b   Tournier Lasserve, Elisabeth ^a,c  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d HOSPICES CIVILS DE LYON   (France)

^e STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f NATIONAL AND KAPODISTRIAN UNIVERSITY OF ATHENS   (Greece)

^g BICHAT HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; DEUBIQUITINATING ENZYME; PROTEIN BRCC3; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ANGIOGENESIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN HEMORRHAGE; CANCER RADIOTHERAPY; CAROTID ARTERY; CLINICAL ARTICLE; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DOWN SYNDROME; ENDOTHELIUM; FACE DYSMORPHIA; FAMILIAL DISEASE; FAMILY STUDY; GENETIC ASSOCIATION; GENETIC CODE; HAIR DISCOLORATION; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; HYPERTENSION; ISCHEMIC HEART DISEASE; JAPAN; LOSS OF FUNCTION MUTATION; MALE; MOYAMOYA DISEASE; NEUROFIBROMATOSIS; PATHOPHYSIOLOGY; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SHORT STATURE; THORACIC AORTA ANEURYSM; VASCULAR DISEASE; X CHROMOSOME LINKED DISORDER;

ANIMALS; BASE SEQUENCE; BLOOD VESSELS; BRAIN; CHROMOSOMES, HUMAN, X; FACE; FEMALE; GENE DELETION; GENE KNOCKDOWN TECHNIQUES; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MOYAMOYA DISEASE; NEOVASCULARIZATION, PHYSIOLOGIC; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS; ZEBRAFISH;

DANIO RERIO;

EID: 79958807516     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.04.017     Document Type: Article

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