MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

American Journal of Human Genetics

Volumn 69, Issue 3, 2001, Pages 635-640

  Melchionda, Salvatore ^a   Ahituv, Nadav ^b   Bisceglia, Luigi ^a   Sobe, Tama ^b   Glaser, Fabian ^b   Rabionet, Raquel ^c   Arbones, Maria Lourdes ^c   Notarangelo, Angelo ^a   Di Iorio, Enzo ^d   Carella, Massimo ^d   Zelante, Leopoldo ^a   Estivill, Xavier ^c   Avraham, Karen B ^b   Gasparini, Paolo ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b TEL AVIV UNIVERSITY   (Israel)

^c HOSPITAL DURAN I REYNALS   (Spain)

^d TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MYOSIN; MYOSIN VI; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CHROMOSOME 6Q; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FAMILIAL DISEASE; GENE LOCUS; GENE MAPPING; GENE MUTATION; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; VESTIBULAR DISORDER;

EID: 0034887805     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/323156     Document Type: Article

References (21)

1. Genomic structure of the human unconventional myosin VI gene
2. ConSurf: An algorithmic tool for the identification of functional regions in proteins by surface mapping of phylogenetic information
3. The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for the structural integrity of inner ear hair cells
4. Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice
5. Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families
6. Myosin VI: Roles for a minus end-directed actin motor in cells
7. A type VII myosin encoded by the mouse deafness gene shaker-1
8. Unconventional myosins in inner-ear sensory epithelia
9. Class VI unconventional myosin is required for spermatogenesis in Drosophila
10. Myosin VI is required for asymmetric segregation of cellular components during C. elegans spermatogenesis
11. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
12. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
13. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
14. The 95F unconventional myosin is required for proper organization of the Drosophila syncytial blastoderm
15. Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene
16. Structure of the actin-myosin complex and its implications for muscle contraction
17. Role of myosin VI in the differentiation of cochlear hair cells
18. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3
19. Defective myosin VIIA gene responsible for Usher syndrome type 1B
20. Myosin VI is an actin-based motor that moves backwards