Results 1 to 10 of about 12,592,373 (135)

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

PLoS ONE, 2017
The MYO7A gene encodes a protein belonging to the unconventional myosin super family. Mutations within MYO7A can lead to either non syndromic hearing loss or to the Usher syndrome type 1B (USH1B). Here, we report the results of genetic analyses performed
Amina Bakhchane, Majida Charif, Amale Bousfiha, Redouane Boulouiz, Halima Nahili, Hassan Rouba, Hicham Charoute, Guy Lenaers, Abdelhamid Barakat   +8 more
doaj   +3 more sources

Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12

Stem Cell Research, 2023
We generated two human induced pluripotency stem cell (hiPSC) lines, RCMGi011-A and 11-B, from skin fibroblast from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12 using non-integrating, viral CytoTune ...
I.O. Panchuk, O.V. Grigorieva, E.V. Kondrateva, E.V. Kurshakova, VYu. Tabakov, I.O. Bychkov, EYu. Zakharova, M.D. Orlova, E.S. Voronina, V.O. Pozhitnova, A.V. Lavrov, S.A. Smirnikhina, S.I. Kutsev   +12 more
doaj   +2 more sources

A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population [PDF]

BMC Medical Genetics, 2011
Background Hearing loss is a clinically and genetically heterogeneous disorder. Mutations in the DFNB1 locus have been reported to be the most common cause of autosomal recessive non-syndromic hearing loss worldwide. Apart from DFNB1, many other loci and
Al-Shaikh Abdulmoneem H, Sogaty Sameera, Al-Mostafa Abeer, Allam Rabab, Trabzuni Daniah, Al-Mubarak Bashayer, Kennedy Shelley, Bin-Khamis Ghada, Ramzan Khushnooda, Taibah Khalid, Imtiaz Faiqa, Bamukhayyar Saeed S, Meyer Brian F, Al-Owain Mohammed   +13 more
doaj   +3 more sources

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. [PDF]

PLoS ONE, 2014
The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations in GJB2 while mutations in MYO15A account for about 5% of recessive deafness ...
Sobia Shafique, Saima Siddiqi, Margit Schraders, Jaap Oostrik, Humaira Ayub, Ammad Bilal, Muhammad Ajmal, Celia Zazo Seco, Tim M Strom, Atika Mansoor, Kehkashan Mazhar, Syed Tahir A Shah, Alamdar Hussain, Maleeha Azam, Hannie Kremer, Raheel Qamar   +15 more
doaj   +3 more sources

First reported CABP2‐related non‐syndromic hearing loss in Northern Europe [PDF]

Molecular Genetics & Genomic Medicine, 2021
Background CABP2‐related non‐syndromic hearing loss have only been reported in a few families worldwide (Iran, Turkey, Pakistan and Italy). The hearing loss was in these cases described as prelingual, symmetrical, and moderate to severe.
Inger Norlyk Sheyanth, Allan Thomas Højland, Henrik Okkels, Ihab Lolas, Christian Thorup, Michael Bjørn Petersen   +5 more
doaj   +2 more sources

A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss

BMC Medical Genomics, 2021
Background Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic and non-syndromic hearing loss.
Hossein Fahimi, Samira Behroozi, Sadaf Noavar, Farshid Parvini   +3 more
doaj   +1 more source

Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families

Human Genomics, 2023
Background Hearing loss is a rare hereditary deficit that is rather common among consanguineous populations. Autosomal recessive non-syndromic hearing loss is the predominant form of hearing loss worldwide.
Maria Asaad, Mona Mahfood, Abdullah Al Mutery, Abdelaziz Tlili   +3 more
doaj   +1 more source

Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss. [PDF]

PLoS ONE, 2014
Tight junctions (TJs) are essential components of eukaryotic cells, and serve as paracellular barriers and zippers between adjacent tissues. TJs are critical for normal functioning of the organ of Corti, a part of the inner ear that causes loss of ...
Min-A Kim, Ye-Ri Kim, Borum Sagong, Hyun-Ju Cho, Jae Woong Bae, Jeongho Kim, Jinwook Lee, Hong-Joon Park, Jae Young Choi, Kyu-Yup Lee, Un-Kyung Kim   +10 more
doaj   +1 more source

Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma

Acta Oto-Laryngologica Case Reports, 2017
GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal ...
Yasuhiro Arai, Masahiro Takahashi, Naoko Sakuma, Shin-Ya Nisio, Nobuhiko Oridate, Shin-Ichi Usami   +5 more
doaj   +1 more source

"Deafness –Associated Connexin 26 Gene (GJB2) Mutations in Iranian Population" [PDF]

Iranian Journal of Public Health, 2002
Mutations in the GJB2 gene at the DFNB1 locus on chromosome 13q12 are associated with autosomal recessive non syndromic hearing loss (ARNSHL) in many populations.
M Hashemzadeh Chaleshtori, DD Farhud, R Taylor, V Hadavi, MA Patton, AR Afzal   +5 more
doaj   +2 more sources