Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding

Human Mutation

Volumn 29, Issue 4, 2008, Pages 545-554

  Collin, Rob W J ^a   Chellappa, Ramesh ^b   Pauw, Robert Jan ^a   Vriend, Gert ^a,c   Oostrik, Jaap ^a   Van Drunen, Wendy ^a   Huygen, Patrick L ^a   Admiraal, Ronald ^a   Hoefsloot, Lies H ^a   Cremers, Frans P M ^a,c   Xiang, Mengqing ^b   Cremers, Cor W R J ^a   Kremer, Hannie ^a,c  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RUTGERS UNIVERSITY   (United States)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

DFNA15; DNA binding domain; Homeodomain; Nonsyndromic hearing impairment; POU specific domain; POU4F3

Indexed keywords

LEUCINE; PHENYLALANINE; TRANSCRIPTION FACTOR POU4F3; DNA; HOMEODOMAIN PROTEIN; POU4F3 PROTEIN, HUMAN; PRIMER DNA; RECOMBINANT PROTEIN; UNCLASSIFIED DRUG; COMPLEMENTARY DNA; GENOMIC DNA; PROLINE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL NUCLEUS; CELLULAR DISTRIBUTION; CYTOPLASM; GENE LOCATION; GENETIC TRANSFECTION; HEARING IMPAIRMENT; HUMAN; LINKAGE ANALYSIS; MISSENSE MUTATION; NETHERLANDS; NUCLEOTIDE SEQUENCE; POU4F3 GENE; PREDICTION; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN DOMAIN; PROTEIN LOCALIZATION; PROTEIN TERTIARY STRUCTURE; ADULT; ANIMAL; BINDING SITE; CELL FRACTIONATION; CELL STRAIN COS1; CERCOPITHECUS; CHEMICAL STRUCTURE; CHEMISTRY; DOMINANT GENE; FEMALE; GENETIC LINKAGE; GENETIC TRANSCRIPTION; GENETICS; HEARING LOSS; MALE; METABOLISM; MIDDLE AGED; MOLECULAR GENETICS; PEDIGREE; SEQUENCE HOMOLOGY; ANIMAL CELL; AUTOSOMAL DOMINANT NONSYNDROMIC HEARING IMPAIRMENT; COMPUTER MODEL; CONTROLLED STUDY; COS 1 CELL LINE; DFNA15 GENE; DNA BINDING; DNA STRUCTURE; GENE; GENE EXPRESSION; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; MOLECULAR MODEL; MOLECULAR PATHOLOGY; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; REPORTER GENE; TRANSCRIPTION INITIATION; TRANSIENT TRANSFECTION;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BASE SEQUENCE; BINDING SITES; CERCOPITHECUS AETHIOPS; COS CELLS; DNA; DNA PRIMERS; FEMALE; GENES, DOMINANT; HEARING LOSS; HOMEODOMAIN PROTEINS; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; SUBCELLULAR FRACTIONS; TRANSCRIPTION FACTOR BRN-3C; TRANSCRIPTION, GENETIC; TRANSFECTION;

EID: 42049087884     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20693     Document Type: Article

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