Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11)

Human Mutation

Volumn 24, Issue 3, 2004, Pages

  Bolz, Hanno ^a   Bolz, Steffen Sebastian ^b   Schade, Götz ^a   Kothe, Christian ^a   Mohrmann, Gerrit ^a   Hess, Markus ^a   Gal, Andreas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

Author keywords

Calmodulin; Deafness; DFNA11; MYO7A; Myosin 7A

Indexed keywords

AMINO ACID; CALMODULIN; GENOMIC DNA; MYOSIN LIGHT CHAIN KINASE; MYOSIN VIIA; DYNEIN ADENOSINE TRIPHOSPHATASE; HYBRID PROTEIN; MYOSIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD VESSEL TONE; CLINICAL ARTICLE; DNA EXTRACTION; ELECTRORETINOGRAM; GENE OVEREXPRESSION; GENOTYPING TECHNIQUE; HEARING IMPAIRMENT; HEARING TEST; HUMAN; IMMUNOHISTOCHEMISTRY; INFANT; IQ5 MOTIF; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTAGENESIS; ONSET AGE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN MOTIF; PROTEIN PROTEIN INTERACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SMOOTH MUSCLE CELL; VASOCONSTRICTION; VESTIBULAR TEST; AGED; AMINO ACID SUBSTITUTION; ANIMAL; BINDING COMPETITION; BIOLOGICAL MODEL; DINUCLEOTIDE REPEAT; DOMINANT GENE; FEMALE; GENETIC TRANSFECTION; GENETICS; HAMSTER; HEARING LOSS; HETEROZYGOTE; INTRON; MALE; METABOLISM; MIDDLE AGED; MUSCLE TONE; NEWBORN; PEDIGREE; PHYSIOLOGY; POINT MUTATION; VASCULAR SMOOTH MUSCLE;

ADOLESCENT; AGED; AGED, 80 AND OVER; AMINO ACID MOTIFS; AMINO ACID SUBSTITUTION; ANIMALS; BINDING, COMPETITIVE; CALMODULIN; CRICETINAE; DINUCLEOTIDE REPEATS; DYNEIN ATPASE; FEMALE; GENES, DOMINANT; HEARING LOSS; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; MALE; MIDDLE AGED; MODELS, BIOLOGICAL; MUSCLE TONUS; MUSCLE, SMOOTH, VASCULAR; MUTATION, MISSENSE; MYOSIN-LIGHT-CHAIN KINASE; MYOSINS; PEDIGREE; POINT MUTATION; PROTEIN BINDING; RECOMBINANT FUSION PROTEINS; TRANSFECTION; VASOCONSTRICTION;

EID: 16644362496     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9272     Document Type: Article

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