A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain

Journal of Molecular Medicine

Volumn 90, Issue 11, 2012, Pages 1321-1331

  Cho, Hyun Ju ^a   Park, Hong Joon ^b   Trexler, Maria ^c   Venselaar, Hanka ^d   Lee, Kyu Yup ^e   Robertson, Nahid G ^f   Baek, Jeong In ^a   Kang, Beom Sik ^a   Morton, Cynthia C ^f   Vriend, Gert ^d   Patthy, László ^c   Kim, Un Kyung ^a  

^a Kyungpook National University   (South Korea)

^b Soree Ear Clinic   (South Korea)

^c INSTITUTE OF EXPERIMENTAL MEDICINE   (Hungary)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e Kyungpook National University School of Medicine   (South Korea)

^f BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

Cochlin; DFNA9; Mutation; Nonsyndromic hearing loss; Protein stability

Indexed keywords

COCHLIN; COLLAGEN TYPE 2; CYSTEINE;

ADULT; AMINO ACID SEQUENCE; ARTICLE; AUDITORY THRESHOLD; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS; CELLULAR DISTRIBUTION; CLINICAL ARTICLE; COCH GENE; COMPLEX FORMATION; CONTROLLED STUDY; COVALENT BOND; DISULFIDE BOND; ENDOPLASMIC RETICULUM; FEMALE; GENE; GENE LOCATION; GENETIC TRANSFECTION; GOLGI COMPLEX; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; MAMMAL CELL; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN PROTEIN INTERACTION; PROTEIN STABILITY; PROTEIN STRUCTURE; WESTERN BLOTTING;

ADULT; AMINO ACID SEQUENCE; CELL LINE; DISULFIDES; EAR, INNER; ENDOPLASMIC RETICULUM; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENES, DOMINANT; GOLGI APPARATUS; HEARING LOSS; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84868142979     PISSN: 09462716     EISSN: 14321440     Source Type: Journal    
DOI: 10.1007/s00109-012-0911-2     Document Type: Article

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