Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila

Proceedings of the National Academy of Sciences of the United States of America

Volumn 107, Issue 30, 2010, Pages 13396-13401

  Schoen, Cynthia J ^a,b   Emery, Sarah B ^a   Thorne, Marc C ^a   Ammana, Hima R ^d   Śliwerska, Elzbieta ^b   Arnett, Jameson ^a   Hortsch, Michael ^c   Hannan, Frances ^d   Burmeister, Margit ^a,b,c   Lesperance, Marci M ^a  

^a UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^d NEW YORK MEDICAL COLLEGE   (United States)

Author keywords

5 UTR; DIAPH1; Formin; Genetics; Overexpression

Indexed keywords

LUCIFERASE; MESSENGER RNA; OTOFERLIN; PEJVAKIN; PROTEIN; UNCLASSIFIED DRUG; 5' UNTRANSLATED REGION; CARRIER PROTEIN; DIAPH3 PROTEIN, HUMAN; DIAPHANOUS PROTEIN, DROSOPHILA; DROSOPHILA PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

5' UNTRANSLATED REGION; ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; CELL LYSATE; CHROMOSOME 13Q; COMPARATIVE STUDY; CONTROLLED STUDY; DNA SEQUENCE; DOMINANT INHERITANCE; DROSOPHILA MELANOGASTER; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE OVEREXPRESSION; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; IMMUNOBLOTTING; LYMPHOBLASTOID CELL LINE; MAJOR CLINICAL STUDY; NONHUMAN; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROMOTER REGION; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SOUND; VESTIBULOCOCHLEAR NERVE DISEASE; 3T3 CELL LINE; ANIMAL; DNA MICROARRAY; EVOKED RESPONSE; FEMALE; GENE EXPRESSION PROFILING; GENETICS; MALE; METABOLISM; MOLECULAR GENETICS; MOUSE; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PERCEPTION DEAFNESS; PHYSIOLOGY; SEQUENCE HOMOLOGY; TRANSFORMED CELL LINE;

5' UNTRANSLATED REGIONS; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; BASE SEQUENCE; CARRIER PROTEINS; CELL LINE, TRANSFORMED; DEAFNESS; DROSOPHILA MELANOGASTER; DROSOPHILA PROTEINS; EVOKED POTENTIALS; FEMALE; GENE EXPRESSION PROFILING; HEARING LOSS, SENSORINEURAL; HUMANS; IMMUNOBLOTTING; LUCIFERASES; MALE; MICE; MOLECULAR SEQUENCE DATA; NIH 3T3 CELLS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, NUCLEIC ACID; SOUND;

EID: 77955787251     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1003027107     Document Type: Article

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