RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

Journal of Clinical Investigation

Volumn 125, Issue 9, 2015, Pages 3585-3599

  Bögershausen, Nina ^a,b   Tsai, I Chun ^c   Pohl, Esther ^a,b   Kiper, Pelin Ozlem Simsek ^d   Beleggia, Filippo ^a,b   Ferda Percin, E ^e   Keupp, Katharina ^a,b   Matchan, Angela ^f   Milz, Esther ^a,b   Alanay, Yasemin ^d,g   Kayserili, Hölya ^h   Liu, Yicheng ^a,b   Banka, Siddharth ⁱ   Kranz, Andrea ^j   Zenker, Martin ^k   Wieczorek, Dagmar ^l   Elcioglu, Nursel ^m   Prontera, Paolo ⁿ   Lyonnet, Stanislas ^o   Meitinger, Thomas ^p   Francis Stewart, A ^j   Donnai, Dian ⁱ   Strom, Tim M ^p,q   Boduroglu, Koray ^d   Yigit, Gökhan ^a,b   Li, Yun ^a,b   Katsanis, Nicholas ^c   Wollnik, Bernd ^a,b   more..

^a UNIVERSITY OF COLOGNE   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c DUKE UNIVERSITY MEDICAL CENTER   (United States)

^d HACETTEPE UNIVERSITY   (Turkey)

^e GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

^f OXFORD GENE TECHNOLOGY   (United Kingdom)

^g ACIBADEM UNIVERSITY   (Turkey)

^h KOÇ UNIVERSITY   (Turkey)

ⁱ UNIVERSITY OF MANCHESTER   (United Kingdom)

^j DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^k UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^l UNIVERSITY HOSPITAL ESSEN   (Germany)

^m MARMARA UNIVERSITY   (Turkey)

ⁿ UNIVERSITY OF PERUGIA   (Italy)

^o UNIVERSITÉ PARIS DESCARTES   (France)

^p INSTITUTE OF EPIDEMIOLOGY   (Germany)

^q TECHNICAL UNIVERSITY OF MUNICH   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

F ACTIN; MITOGEN ACTIVATED PROTEIN KINASE; RAP1 PROTEIN; RAP1A PROTEIN; RAP1B PROTEIN; UNCLASSIFIED DRUG; ACTIN; DNA BINDING PROTEIN; HISTONE DEMETHYLASE; MLL2 PROTEIN, HUMAN; MONOMERIC GUANINE NUCLEOTIDE BINDING PROTEIN; NUCLEAR PROTEIN; RAP1 PROTEIN, ZEBRAFISH; TELOMERE BINDING PROTEIN; TERF2IP PROTEIN, HUMAN; TUMOR PROTEIN; UTX PROTEIN, HUMAN; ZEBRAFISH PROTEIN;

ACTIN POLYMERIZATION; ANIMAL EXPERIMENT; ARTICLE; CONTROLLED STUDY; EXOME; GENE INTERACTION; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN CELL; KABUKI MAKEUP SYNDROME; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; MOUSE; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; UNIPARENTAL DISOMY; ZEBRA FISH; ANIMAL; BOVINE; CHILD; CONGENITAL MALFORMATION; DISEASE MODEL; FACE; GENETICS; HEMATOLOGIC DISEASE; MALE; METABOLISM; MULTIPLE MALFORMATION SYNDROME; MUTATION; PRESCHOOL CHILD; RAT; VESTIBULAR DISORDER;

ABNORMALITIES, MULTIPLE; ACTINS; ANIMALS; CATTLE; CHILD; CHILD, PRESCHOOL; DISEASE MODELS, ANIMAL; DNA-BINDING PROTEINS; EXOME; FACE; HEMATOLOGIC DISEASES; HISTONE DEMETHYLASES; HUMANS; MALE; MAP KINASE SIGNALING SYSTEM; MICE; MONOMERIC GTP-BINDING PROTEINS; MUTATION; NEOPLASM PROTEINS; NUCLEAR PROTEINS; RATS; TELOMERE-BINDING PROTEINS; VESTIBULAR DISEASES; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84941686764     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI80102     Document Type: Article

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