Evaluation of the myosin VIIA gene and visual function in patients with usher syndrome type I

Experimental Eye Research

Volumn 71, Issue 2, 2000, Pages 173-181

  Bharadwaj, Amitabh K ^a   Kasztejna, Joseph P ^a   Huq, Syed ^a   Berson, Eliot L ^a   Dryja, Thaddeus P ^a  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

Electroretinogram; Hereditary deafness; Myosin VIIA; Retinal degeneration; Retinitis pigmentosa; Usher syndrome

Indexed keywords

ADENOSINE TRIPHOSPHATE; MYOSIN;

ACTIN FILAMENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CONTROLLED STUDY; ELECTRORETINOGRAM; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; USHER SYNDROME; VISION;

EID: 0033825065     PISSN: 00144835     EISSN: None     Source Type: Journal    
DOI: 10.1006/exer.2000.0863     Document Type: Article

References (27)

1. Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins
2. A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa
3. Natural course of retinitis pigmentosa over a three-year interval
4. A newly identified locus for Usher syndrome type 1, USH 1E, maps to chromosome 21q21
5. Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B
6. Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity
7. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
8. The genomic structure of the gene defective in Usher syndrome type 1b (MYO7A)
9. Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11
10. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants
11. Genetic heterogeneity of Usher syndrome type 1 in French families
12. Myosin VIIA gene: Heterogeneity of the mutations responsible for Usher syndrome type 1B
13. Myosin VIIA participates in opsin transport through the photoreceptor cilium
14. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
15. Usher syndrome type III in Finland
16. Sequence and domain structure of talin
17. Improved splice site detection in Genie
18. An electroretinographic and molecular genetic study of X-linked cone degeneration
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20. Localization of two genes for Usher syndrome type I to chromosome 11
21. Localization of the Usher syndrome type 1D gene (Ush1D) to chromosome 10
22. Localization of the Usher syndrome type If (Ush1F) to chromosome 10
23. Defective myosin VIIA gene responsible for Usher syndrome type 1B
24. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
25. Human myosin VIIA responsible for the Usher IB syndrome: A predicted membrane-associated motor protein expressed in the developing sensory organs
26. Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients