Results 61 to 70 of about 139 (86)

Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3

Science, 1998
DFNB3, a locus for nonsyndromic sensorineural recessive deafness, maps to a 3-centimorgan interval on human chromosome 17p11.2, a region that shows conserved synteny with mouse shaker-2.
Sally A. Camper, Robert J. Morell, Cynthia Morton   +2 more
exaly   +11 more sources

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17

Nature Genetics, 1995
Two percent of the residents of Bengkala, Bali, have profound, congenital, neurosensory, nonsyndromal deafness due to an autosomal recessive mutation at the DFNB3 locus. We have employed a direct genome-wide disequilibrium search strategy, allele-frequency-dependent homozygosity mapping (AHM), and an analysis of historical recombinants to map DFNB3 and
Thomas B. Friedman, James L Weber, J L Weber   +2 more
exaly   +4 more sources

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[Analysis of MYO15A variation in children with DFNB3].

Zhonghua er ke za zhi = Chinese journal of pediatrics, 2020
Objective: To analyze the genetic and clinical characteristics of MYO15A variants associated non-syndromic autosomal recessive deafness3 (DFNB3). Methods: The hearing test and high-throughput sequencing data of 108 families with non-syndromic hearing loss, who visited the Center of Genetics and Prenatal Diagnosis in the First Affiliated Hospital of ...
S M, Ren, Q H, Wu, Z H, Jiao, Y B, Chen, C, Chen, X D, Kong, Z B, Qin   +6 more
openaire   +1 more source

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation

American Journal of Medical Genetics Part A, 2007
AbstractMyosin XVA is an unconventional myosin which has been implicated in autosomal recessive nonsyndromic hearing impairment (ARNSHI) in humans. In Myo15A mouse models, vestibular dysfunction accompanies the autosomal recessive hearing loss. Genomewide homozygosity mapping and subsequent fine mapping in two Turkish families with ARNSHI revealed ...
Kalay, E., Uzumcu, A., Krieger, E., Caylan, R., Uyguner, O., Ulubil-Emiroglu, M., Erdol, H., Kayserili, H., Hafiz, G., Baserer, N., Heister, J.G.A.M., Hennies, H.C., Nurnberg, P., Basaran, S., Brunner, H.G., Cremers, C.W.R.J., Karaguzel, A., Wollnik, B., Kremer, H., Kremer, H.   +19 more
openaire   +4 more sources

Screening of the DFNB3 Locus: Identification of Three Novel Mutations of MYO15A Associated with Hearing Loss and Further Suggestion for Two Distinctive Genes on This Locus

Genetic Testing and Molecular Biomarkers, 2009
Recessive mutations of MYO15A are associated with nonsyndromic hearing loss (HL) in humans ( DFNB3 ) and in the shaker-2 mouse.
Hanen, Belguith, Mounira, Aifa-Hmani, Houria, Dhouib, Mariem Ben, Said, Mohamed Ali, Mosrati, Imed, Lahmar, Jihen, Moalla, Ilhem, Charfeddine, Nabil, Driss, Saida Ben, Arab, Abdelmonem, Ghorbel, Hammadi, Ayadi, Saber, Masmoudi   +12 more
openaire   +2 more sources

DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation.

Advances in oto-rhino-laryngology, 2003
We have now identified seven MYO15A mutations that cause congenital profound neurosensory hearing loss and a possible hypomorphic allele of MYO15A associated with moderately-severe hearing loss in 1 of 8 SMS patients. Because myosin XVA is encoded by 66 exons, screening for mutations in hearing-impaired individuals is expensive and labor-intensive in ...
Thomas B, Friedman, John T, Hinnant, Manju, Ghosh, Erich T, Boger, S, Riazuddin, James R, Lupski, Lorraine, Potocki, Edward R, Wilcox   +7 more
openaire   +1 more source

The ATPase mechanism of myosin 15, the molecular motor mutated in DFNB3 human deafness

Journal of Biological Chemistry, 2021
Jonathan E Bird, James R Sellers, Arik Shams   +2 more
exaly  

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

Human Mutation, 2016
Jonathan E Bird, Kwanghyuk Lee
exaly  

<i>DFNB3</i>, Spectrum of <i>MYO15A</i> Recessive Mutant Alleles and an Emerging Genotype-Phenotype Correlation

2002
T.B. Friedman, J.T. Hinnant, M. Ghosh, E.T. Boger, S. Riazuddin, J.R. Lupski, L. Potocki, E.R. Wilcox   +7 more
openaire   +1 more source

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss

Laryngoscope, 2009
Melanie Bahlo, Aiden Shearer, Hossein Najmabadi   +2 more
exaly