Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy

American Journal of Medical Genetics, Part A

Volumn 167, Issue 9, 2015, Pages 2114-2121

  Shehata, Bahig M ^a   Cundiff, Caitlin A ^a,b   Lee, Kevin ^b   Sabharwal, Ankit ^c,d   Lalwani, Mukesh Kumar ^c   Davis, Angela K ^a   Agrawal, Vartika ^b   Sivasubbu, Sridhar ^c,d   Iannucci, Glen J ^a   Gibson, Greg ^a,b  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b GEORGIA INSTITUTE OF TECHNOLOGY   (United States)

^c CSIR INSTITUTE OF GENOMICS AND INTEGRATIVE BIOLOGY   (India)

^d ACADEMY OF SCIENTIFIC AND INNOVATIVE RESEARCH ACSIR   (India)

Author keywords

De novo mutation; Histiocytoid cardiomyopathy; Morpholinos; NDUFB11; Whole exome sequencing; Zebrafish

Indexed keywords

MITOCHONDRIAL DNA; CHAPERONE; MITOCHONDRIAL PROTEIN; NDUFAF2 PROTEIN, HUMAN; NDUFB11 PROTEIN, HUMAN; NDUFB9 PROTEIN, HUMAN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); STOP CODON; UBIQUINOL CYTOCHROME C REDUCTASE;

ADULT; ARTICLE; CARDIOMEGALY; CARDIOMYOPATHY; CONTROLLED STUDY; EMBRYO; EXON; FEMALE; GENE; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HEART ARRHYTHMIA; HEART MUSCLE CELL; HEART MUSCLE POTENTIAL; HETEROZYGOTE; HISTIOCYTOID CARDIOMYOPATHY; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; MOLECULAR GENETICS; NDUFAF2 GENE; NDUFB11 GENE; NDUFB9 GENE; NONHUMAN; NONSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; ALLELE; ANIMAL; CARDIOMYOPATHIES; DEFICIENCY; DNA SEQUENCE; EXOME; GENETIC PREDISPOSITION; GENETICS; MALE; PEDIGREE; PROCEDURES; STOP CODON; ZEBRA FISH;

DANIO RERIO;

ALLELES; ANIMALS; CARDIOMYOPATHIES; CODON, NONSENSE; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; ELECTRON TRANSPORT COMPLEX III; EXOME; FEMALE; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; MALE; MITOCHONDRIAL PROTEINS; MOLECULAR CHAPERONES; NADH DEHYDROGENASE; PEDIGREE; SEQUENCE ANALYSIS, DNA; ZEBRAFISH;

EID: 84939467892     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37138     Document Type: Article

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