Results 51 to 60 of about 514 (125)

Internal Interaction Changes Within The Mutation Of Slc26A4 Stas Domain

, 2018
Pendrin (SLC26A4) is a protein associated with the auditory system. Pendred syndrome (PDS) and DFNB4 are typical auditory disorders caused by mutations in the SLC26A4 STAS domain.
Kim, Jae In, Lee, Myeongsang, Na, Sungsoo, Chang, Hyunjoon   +3 more
core   +1 more source

The Diverse Genetic Landscape of Hearing Impairment in South African Families

Clinical Genetics, Volume 108, Issue 5, Page 511-520, November 2025.
South African Families with Nonsyndromic (N = 24) and Syndromic Hearing Impairment (N = 21) with ≥ 2 affected members were analyzed. The underlying etiology was uncovered using exome and Sanger sequencing for 31 of these families. ABSTRACT To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and ...
Thashi Bharadwaj, Anushree Acharya, Noluthando Rearabetswe Manyisa, Elvis Twumasi Aboagye, Ramses Peigou Wonkam, Lettilia Xhakaza, Kalinka Popel, Carmen de Kock, Isabelle Schrauwen, Ambroise Wonkam, Suzanne M. Leal   +10 more
wiley   +1 more source

Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct

Journal of Translational Medicine, 2011
Background Mutations in SLC26A4 cause Pendred syndrome (hearing loss with goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as enlarged vestibular aqueduct or Mondini deformity).
Yan Xiaofei, Zhang Xin, Kang Dongyang, Wang Guojian, Yuan Yongyi, Han Dongyi, Huang Shasha, Meng Xiaoxiao, Dong Min, Dai Pu   +9 more
doaj   +1 more source

ACQUEDOTTO VESTIBOLARE ALLARGATO: S. DI PENDRED, DFNB4, SINDROME DELL’ACQUEDOTTO VESTIBOLARE ALLARGATO [PDF]

, 2010
L’acquedotto vestibolare è un canale osseo che si estende dalla parete mediale del vestibolo alla faccia cerebellare della piramide petrosa, contiene vasi e una componente del labirinto membranoso dell’orecchio interno, il dotto endolinfatico che si ...
Berto, Anna
core  

The potential impact of implementation of expanded carrier screening on pediatric patient diagnoses: A retrospective chart review of patients who receive care in an outpatient genetics clinic in the northeast

Journal of Genetic Counseling, Volume 33, Issue 5, Page 1026-1034, October 2024.
Abstract The use of expanded carrier screening (ECS) to assess reproductive risk for autosomal recessive (AR) or X‐linked recessive (XLR) conditions has been increasingly integrated into obstetrical care. The aim of this study was to determine what proportion of pediatric patients seen by a medical genetics practice could have had their diagnosis ...
Kelly Roche, Shama P. Khan, Christina Botti, Philip Giampietro, Sharon Anderson, Elena Ashkinadze   +5 more
wiley   +1 more source

Unraveling the Genetic Basis of Combined Deafness and Male Infertility Phenotypes through High‐Throughput Sequencing in a Unique Cohort from South India

Advanced Genetics, Volume 5, Issue 2, June 2024.
A comprehensive analysis of the genetic makeup of a unique cohort of males with hearing impairment and infertility uncovers a wide range of gene variations spanning seven chromosomes, highlighting significant genetic heterogeneity within this disorder.
Jeffrey Justin Margret, Chandru Jayasankaran, Pavithra Amritkumar, Hela Azaiez, C. R. Srikumari Srisailapathy   +4 more
wiley   +1 more source

Mutation screening of GJB2 and GJB6 and genetic linkage study of three prevalent DFNB loci in Iranian families with autosomal recessive non-syndromic hearing loss [PDF]

, 2010
Background and aim: The incidence of prelingual hearing loss (HL) is about 1 in 1000 neonates of which, more than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 100 loci have been identified.
Tabatabaiefar, Mohammad Amin., Montazer Zohouri, Mostafa., Ghasemikhah, Reza., Shariati, Laleh., Ashrafi, Koorosh., Saffari-Chaleshtori, Javad., Farrokhi, Effat., Noori-Daloii, Mohammad Reza., Hashemzadeh-Chaleshtori, Morteza.   +8 more
core   +1 more source

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

A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts

Molecular Genetics &Genomic Medicine, Volume 12, Issue 2, February 2024.
pc‐MINI vector detection results. (A) Construction of the pcMINI‐SLC26A4‐wt/mut vector harboring exon6 and flanking intronic sequences from WT or Mut types (c.765+4A>G) of the SCL26A4 gene. (B) Minigene construction sequencing map, Wt on top and Mut on bottom; (C) RT‐PCR products were separated by electrophoresis of the pcMINI‐SLC26A4‐wt/mut vector in ...
Suyang Wang, Yi‐Ming Zhu, ChenYang Xu, Wenjuan Ding, Hui Jia, Panpan Bian, Baicheng Xu, Yufen Guo, Xiaowen Liu   +8 more
wiley   +1 more source

The Study of SLC26A4 Gene Causing Autosomal Recessive Hearing Loss by Linkage Analysis in a Cohort of Iranian Populations. [PDF]

, 2014
Sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. Hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date.
Sanati, Mohammad Hossein., Shavarzi, Afsaneh., Reiisi, Somayeh., Porjafari, Hamid., Tabatabaiefar, Mohammad Amin., Ahmadian, Shahla., Parchami Barjui, Shahrbanoo., Reiisi, Salimeh., Shahi, Heshmat., Hashemzadeh-Chaleshtori, Morteza.   +9 more
core   +1 more source