Journal ArticleDOI
Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.
William J. Kimberling,Claes Möller,S. Davenport,I. A. Priluck,Peter Beighton,Jacquie Greenberg,William Reardon,Michael D. Weston,J. B. Kenyon,J. A. Grunkemeyer,S. Pieke Dahl,L. D. Overbeck,D. J. Blackwood,A. M. Brower,Denise M. Hoover,P. Rowland,Richard J.H. Smith +16 more
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TLDR
This is a report of the localization of one gene for Usher syndrome type I to chromosome 11q, probably distal to marker D11S527, and this second localization establishes the existence of a new and independent locus forUsher syndrome.About:
This article is published in Genomics.The article was published on 1992-12-01. It has received 184 citations till now. The article focuses on the topics: Usher Syndrome Type 1 & Usher syndrome.read more
Citations
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Journal ArticleDOI
Defective myosin VIIA gene responsible for Usher syndrome type 1B
Dominique Well,Stéphane Blanchard,Josseline Kaplan,Parry Guilford,Fernando Gibson,James Walsh,Philomena Mburu,Anabel Varela,Jacqueline Levilliers,Michael D. Weston,Phillip M. Kelley,William J. Kimberling,M. Wagenaar,Fabienne Levi-Acobas,Dominique Larget-Piet,Arnold Munnich,Karen P. Steel,Stephen D.M. Brown,Christine Petit +18 more
TL;DR: Evidence is presented that a gene encoding myosin VIIA is responsible for USH1B and that USH IB appears as a primary cytoskeletal protein defect, which implicate the genes encoding other unconventional myosins and their interacting proteins as candidates for other genetic forms of Usher syndrome.
Journal ArticleDOI
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
TL;DR: Findings indicate that the allelic and nonallelic heterogeneity known to be a feature of monogenic RP is complicated further by interactions between unlinked mutations causing digenic RP.
Journal ArticleDOI
A type VII myosin encoded by the mouse deafness gene shaker-1.
Fernando Gibson,James Walsh,Philomena Mburu,Anabel Varela,Katherine A. Brown,Martin Antonio,K. W. Beisel,Karen P. Steel,Stephen D.M. Brown +8 more
TL;DR: The shl gene encodes an unconventional myosin molecule of the type VII family, which is the first molecule to be identified that is known, by virtue of its mutations, to be involved in auditory transduction.
Journal ArticleDOI
Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23
Julie M. Bork,Linda M. Peters,Saima Riazuddin,Saima Riazuddin,S. L. Bernstein,Zubair M. Ahmed,Zubair M. Ahmed,Seth L. Ness,Robert C. Polomeno,Arabandi Ramesh,Arabandi Ramesh,Melvin D. Schloss,C. R. Srikumari Srisailpathy,C. R. Srikumari Srisailpathy,Sigrid Wayne,Susan Bellman,Dilip Desmukh,Zahoor Ahmed,Shaheen N. Khan,Vazken M. Der Kaloustian,X. Cindy Li,Anil K. Lalwani,Sheikh Riazuddin,Maria Bitner-Glindzicz,Walter E. Nance,Xue-Zhong Liu,Graeme Wistow,Richard J.H. Smith,Andrew J. Griffith,Edward R. Wilcox,Thomas B. Friedman,Robert J. Morell +31 more
TL;DR: Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular dysfunction (USH1D) were previously mapped to overlapping regions of chromosome 10q21-q22, but mutations in a novel cadherin-like gene, CDH23, were found both in families with DFNB12 and in Families with USH1D.
Journal ArticleDOI
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.
Zubair M. Ahmed,Saima Riazuddin,S. L. Bernstein,Zahoor Ahmed,Shaheen N. Khan,Andrew J. Griffith,Robert J. Morell,Thomas B. Friedman,Sheikh Riazuddin,Edward R. Wilcox +9 more
TL;DR: Two mutations of protocadherin 15 (PCDH15) found in two families segregating Usher syndrome type 1F are reported, consistent with its pathogenetic role in the retinitis pigmentosa associated with USH1F.
References
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Journal ArticleDOI
Analysis of Human Genetic Linkage.
A. W. F. Edwards,Jurg Ott +1 more
TL;DR: The first and still the only book of its kind, this volume offers a concise introduction to human genetic linkage analysis and gene mapping and introduces the reader to many of the intricate aspects of complex traits.
Journal Article
Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.
TL;DR: A computer program package, LINKAGE, for multilocus linkage analysis is described and the appropriateness of assuming no interference with data available in human genetic studies is considered.
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Harvard encyclopedia of American ethnic groups
TL;DR: Groups and Definitions Acadians Marietta M. Hoffmann as mentioned in this paper defined a set of characteristics of groups in the U.S. which are related to race and ethnicity.
Journal ArticleDOI
Usher syndrome: Definition and estimate of prevalence from two high-risk populations
TL;DR: Estimates of prevalence obtained using registry data and statistics from Louisiana clearly suggest that the previous estimate of 2.4 per 100,000 is too low for the United States.
Journal ArticleDOI
Stereocilia mediate transduction in vertebrate hair cells (auditory system/cilium/vestibular system)
A J Hudspeth,R Jacobs +1 more
TL;DR: The roles of stereocilia and kinocilium are examined by recording intracellularly from bullfrog saccular hair cells, finding that they mediate the transduction process of the vertebrate hair cell and may serve primarily as a linkage conveying mechanical displacements to the stereocilia.
Related Papers (5)
Defective myosin VIIA gene responsible for Usher syndrome type 1B
Dominique Well,Stéphane Blanchard,Josseline Kaplan,Parry Guilford,Fernando Gibson,James Walsh,Philomena Mburu,Anabel Varela,Jacqueline Levilliers,Michael D. Weston,Phillip M. Kelley,William J. Kimberling,M. Wagenaar,Fabienne Levi-Acobas,Dominique Larget-Piet,Arnold Munnich,Karen P. Steel,Stephen D.M. Brown,Christine Petit +18 more