Results 11 to 20 of about 139 (86)

Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family [PDF]

Iranian Journal of Basic Medical Sciences, 2016
Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated
Somayeh Reiisi, Mohammad Amin Tabatabaiefar, Mohammad Hosein Sanati, Morteza Hashemzadeh Chaleshtori   +3 more
doaj   +7 more sources

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

The Laryngoscope, 2009
AbstractObjectives.To use clinical and genetic analyses to determine the mutation causing autosomal recessive nonsyndromic hearing loss (ARNSHL) segregating in two consanguineous Iranian families.Study Design.Family study.Methods.Members of each family received otologic and audiometric examination for the type and extent of hearing loss.
A Eliot, Shearer, Michael S, Hildebrand, Jennifer A, Webster, Kimia, Kahrizi, Nicole C, Meyer, Khadijeh, Jalalvand, Sanaz, Arzhanginy, William J, Kimberling, Dietrich, Stephan, Melanie, Bahlo, Richard J H, Smith, Hossein, Najmabadi   +11 more
openaire   +3 more sources

Purification and Characterization of Myosin-15, the Molecular Motor Mutated in DFNB3 Human Deafness [PDF]

Biophysical Journal, 2014
Stereocilia are mechanosensitive organelles projecting from the surface of inner ear hair cells that detect nanometer deflections induced by sound, gravity or head movement. Unconventional myosin-15 (encoded by Myo15) is hypothesized to regulate stereocilia development by delivering cargoes such as whirlin and Eps8 to their tips.
Bird, Jonathan E., Takagi, Yasuharu, Billington, Neil, Heissler, Sarah M., Friedman, Thomas B., Sellers, James R.   +5 more
openaire   +3 more sources

Mutation Analysis of GJB2 and GJB6 Genes and the Genetic Linkage Analysis of Five Common DFNB Loci in the Iranian Families with Autosomal Recessive Non-Syndromic Hearing Loss [PDF]

Journal of Sciences, Islamic Republic of Iran, 2010
The incidence of pre-lingual hearing loss (HL) is about 1 in 1000 neonates. More than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 130 loci have been identified so far.
M.R. Noori-Daloii
doaj   +2 more sources

Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss

Iranian Journal of Public Health, 2016
Background: Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most common hereditary form of deafness, and exhibits a great deal of genetic heterogeneity.
Marjan MASOUDI, Najmeh AHANGARI, Ali Akbar POURSADEGH ZONOUZI, Ahmad POURSADEGH ZONOUZI, Azim NEJATIZADEH   +4 more
doaj   +2 more sources

Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for GJB2 Mutations [PDF]

Iranian Journal of Public Health, 2019
Background: Autosomal recessive non-syndromic hearing loss (ARNSHL), one of the global public health concerns, is marked by a high degree of genetic heterogeneity. The role of GJB2, as the most common cause of ARNSHL, is only
Mahbobeh KOOHIYAN, Somayeh REIISI, Fatemeh AZADEGAN-DEHKORDI, Mansoor SALEHI, Hamidreza ABTAHI, Morteza HASHEMZADEH-CHALESHTORI, Mohammad Reza NOORI-DALOII, Mohammad Amin TABATABAIEFAR   +7 more
doaj   +3 more sources

A Myosin Nanomotor Essential for Stereocilia Maintenance Expands the Etiology of Hereditary Hearing Loss DFNB3

ABSTRACT Cochlear hair cells transduce sound using stereocilia, and disruption to these delicate mechanosensors is a significant cause of hearing loss. Stereocilia architecture is dependent upon the nanomotor myosin 15.
Ghazaleh Behnammanesh, Abigail K. Dragich, Xiayi Liao, Shadan Hadi, Mi-Jung Kim, Benjamin Perrin, Shinichi Someya, Gregory I. Frolenkov, Jonathan E. Bird   +8 more
openaire   +3 more sources

Mapping, mutation identification and expression study of DFNB3, a gene for human recessive deafnes [i.e. deafness]

, 1999
Thesis (Ph. D.)--Michigan State University.
Liang, Yong
openaire   +2 more sources

Molecular cloning of an unconventional myosin MYO15 and the identification of mutations of MYO15 responsible for human nonsyndromic deafness DFNB3

, 1999
Thesis (Ph. D.)--Michigan State University.
Wang, Aihui
openaire   +2 more sources

Haplotype Analysis of Seven Non-Syndromeic Autosomal Recessive Hearing Loss Loci in Iranian Families

Journal of Rehabilitation, 2010
Objective: Hearing impairment is the most frequent sensorineural defect in 2 forms, syndromic and non–syndromic. The aim of this study is haplotype analysis of seven loci of non–syndromic autosomal recessive hearing loss in Iranian families. Materials &
Ramak Badr, Bahareh Shoja-Saffar, Niloofar Bazzaz-Zadegan, Khadijeh Jalalvand, Kimia Kahrizi, Hossein Najm-Abadi   +5 more
doaj   +1 more source