Results 41 to 50 of about 139 (86)

Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades

Journal of Cellular and Molecular Medicine, Volume 28, Issue 8, April 2024.
Abstract Hearing loss is a clinically and genetically heterogeneous disorder, with over 148 genes and 170 loci associated with its pathogenesis. The spectrum and frequency of causal variants vary across different genetic ancestries and are more prevalent in populations that practice consanguineous marriages.
Madiha Shadab, Ansar Ahmed Abbasi, Ahsan Ejaz, Afif Ben‐Mahmoud, Vijay Gupta, Hyung‐Goo Kim, Barbara Vona   +6 more
wiley   +1 more source

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

, 2001
. Mutations in myosin XVA are responsible for the shaker 2 (sh2) phenotype in mice and nonsyndromic autosomal recessive profound hearing loss DFNB3 on chromosome 17p11.2.
Liburd, Nikki, Lupski, James, Khan, Shaheen, Potocki, Lorraine, Riazuddin, Sheikh, Menon, Puthezhath, Naz, Sadaf, Ahmed, Zubair, Chen, Ken-Shiung, Liang, Yong, Friedman, Thomas, Riazuddin, Saima, Ghosh, Manju, Smith, Tenesha, Smith, Ann, Wilcox, Edward   +15 more
core   +1 more source

The clinical and genetic spectrum of twenty-six individuals with hearing loss affected by MYO15A variants

Scientific Reports
Myosin XVA (MYO15A) is a member of the myosin superfamily that, as a motor protein, plays an essential role in actin polymerization at the tip of the stereocilia in hair cells. Variants in MYO15A are known to be the third most common reason for autosomal
Saeid Morovvati, Mina Mohammadi Sarband, Samaneh Doostmohammadi, Sima Rayat, Hessamaldin Emamdjomeh, Mohammad Farhadi, Alimohamad Asghari, Masoud Garshasbi, Masoumeh Falah   +8 more
doaj   +1 more source

مطالعه‌ی لوکوس 3DFNB وابسته به ناشنوایی غیر سندرمیک اتوزومال مغلوب در جمعیتی از ناشنوایان ایرانی با روش آنالیز پیوستگی ژنتیکی

مجله دانشکده پزشکی اصفهان, 2014
مقدمه: ناشنوایی یک اختلال شایع می‌باشد که به طور معمول، هتروژنی ژنتیکی را در جمعیت‌های انسانی نشان می‌دهد. بروز ناشنوایی مادرزادی به میزان 1 در هر 500 تولد محاسبه شده است که حدود 70 درصد این موارد به عوامل ژنتیکی نسبت داده می‌شوند. نقص ژنتیکی ناشنوایی به
Somayeh Reiisi, Mohammad Hossein Sanati, Mohammad Amin Tabatabaiefar, Hamid Reza Pourjafari, Zarrin Minuchehr, Afsaneh Shavarzi, Mitra Ataie, Mahbobeh Kasiri, Morteza Hashemzadeh Chaleshtori   +8 more
doaj  

Mutational spectrum of MYO15A : the large N-terminal extension of myosin XVA is required for hearing

, 2007
Human MYO15A is located on chromosome 17p11.2, has 66 exons and encodes unconventional myosin XVA. Recessive mutations of MYO15A are associated with profound, nonsyndromic hearing loss DFNB3 in humans, and deafness and circling behavior in shaker 2 mice.
Waryah, Ali Muhammad, Erkal, Engin, Friedman, Thomas B., Alper, Özgül M., Riazuddin, Sheikh, Chattaraj, Parna, Ain, Quratul, Ahmed, Zubair M., Dinç, Oktay, Lüleci, Güven, Boger, Erich, Morell, Robert J., Tasneem, Saba, Nal, Nevra, Husnain, Tayyab, Riazuddin, Saima, Ghosh, Manju, Kabra, Madhulika   +17 more
core   +1 more source

Contribution of GJB2 mutations and Four common DFNB loci in autosomal recessive non-syndromic hearing impairment in Markazi and Qom provinces of Iran [PDF]

, 2009
This study aimed to investigate the contribution of four common DFNB ("DFN" for deafness and "B" for autosomal resessive locus) loci and GJB2 gene mutations (exon 2) in hearing impairment in individuals living in Markazi and Qom provinces of Iran.
Sanati, Mohammad Hossein., Ataei, Mitra., Mahmoudian, Saeid., Alasti, Fatemeh., Hashemzadeh-Chaleshtori, Morteza., Sadeghi, Abdolrahim.   +5 more
core   +1 more source

Detection of two pathogenesis previously unreported myosin xva pathogenic variants in two large Iranian pedigrees with autosomal recessive nonsyndromic hearing loss

, 2021
Purpose: Hearing loss (HL) is a genetically heterogeneous common neurosensory disorder. Among different ethnic groups, pathogenic variants of Myosin XVa (MYO15A) at the DFNB3 locus are the common causes of autosomal recessive nonsyndromic hearing loss ...
Ashrafi, Korosh, Mobini, Gholam Reza, Shirzad, Maryam, Farrokhi, Effat, Azadegan-Dehkordi, Fatemeh, Hashemzadeh-Chaleshtori, Morteza, Yazdanpanahi, Nasrin   +6 more
core   +1 more source

Immobilizing Mutation in an Unconventional Myosin15a Affects not only the Structure of Mechanosensory Stereocilia in the Inner Ear Hair Cells but also their Ionic Conductances [PDF]

, 2014
In the inner and outer hair cells (OHCs) of the inner ear, an unconventional myosin 15a localizes at the tips of mechanosensory stereocilia and plays an important role in forming and maintaining their normal structure. A missense mutation makes the motor
Syam, Diana
core   +1 more source

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-syndrom [PDF]

, 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.
Farokhi, Effat., Safari Chaleshtori, Javad., Tabatabaiefar, Mohammad Amin., Montazer Zohouri, Mostafa., Gholami, A., Shariati, Laleh., Ashrafi, Koorosh., Noori-Daloii, Mohammad Reza., Hashemzadeh-Chaleshtori, Morteza.   +8 more
core   +1 more source

A Unique Point Mutation in the PMP22 Gene Is Associated with Charcot-Marie-Tooth Disease and Deafness [PDF]

, 1999
SummaryCharcot-Marie-Tooth disease (CMT) with deafness is clinically distinct among the genetically heterogeneous group of CMT disorders. Molecular studies in a large family with autosomal dominant CMT and deafness have not been reported.
Frank, William, Jabs, Ethylin Wang, Rimer, Lisa A., Herman, Kristin, Llewellyn, Barbara, Kimonis, Virginia E, Wang Jabs, Ethylin, Kimonis, Virginia E., Campbell, Kathleen, Boyadjiev, Simeon, Mazzeo, Larry, Kovach, Margaret J, Rimer, Lisa A, Kovach, Margaret J., Lin, Jing-Ping, Gelber, David   +15 more
core   +1 more source