Functional null mutations in the gonosomal homologue gene TBL1Y are associated with non-syndromic coarctation of the aorta

Current Molecular Medicine

Volumn 12, Issue 2, 2012, Pages 199-205

  Tagariello, A ^a   Breuer, C ^b   Birkner, Y ^b   Schmidt, S ^a   Koch, A M ^b   Cesnjevar, R ^b   Ruffer A ^b   Dittrich, S ^b   Schneider, H ^b   Winterpacht, A ^a   Sticht, H ^b   Dotsch J ^c   Toka, O ^b  

^a UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

Author keywords

Coarctation of the aorta; Congenital heart defect; Gonosome; Sex chromosome; Y chromosome; Ylinked genes

Indexed keywords

GENOMIC DNA; MESSENGER RNA; NOTCH RECEPTOR; PROTEIN TBL1X; PROTEIN TBL1Y; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

AORTA COARCTATION; AORTA VALVE DISEASE; AORTOGRAPHY; BIOINFORMATICS; CHROMOSOME 3; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CONTROLLED STUDY; ECHOCARDIOGRAPHY; EXON; FEMALE; GENE AMPLIFICATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEART LEFT VENTRICLE OUTFLOW TRACT; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTANT; MUTATIONAL ANALYSIS; NON SYNDROMIC COARCTATION OF THE AORTA; NUCLEOTIDE SEQUENCE; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN STABILITY; PULMONARY VALVE DISEASE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW; SEX CHROMOSOME; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION INITIATION; WESTERN BLOTTING; WILD TYPE;

ADOLESCENT; ADULT; AORTIC COARCTATION; BASE SEQUENCE; CELL LINE; CHILD; CHILD, PRESCHOOL; FEMALE; GENE EXPRESSION; GENE ORDER; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MODELS, MOLECULAR; MUTATION; PROTEIN STABILITY; PROTEIN STRUCTURE, SECONDARY; SEX CHROMOSOMES; TRANSDUCIN; YOUNG ADULT;

EID: 84855847533     PISSN: 15665240     EISSN: 18755666     Source Type: Journal    
DOI: 10.2174/156652412798889027     Document Type: Review

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