Zobrazeno 1 - 10
of 1 089
pro vyhledávání: '"Slc26a4"'
Autor:
Yixin Zhao, Yan Long, Tao Shi, Xin Ma, Chengyu Lian, Hanjun Wang, Hongen Xu, Lisheng Yu, Xiaotao Zhao
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)
Abstract Background The SLC26A4 gene is the second most common cause of hereditary hearing loss in human. The aim of this study was to utilize the minigene assay in order to identify pathogenic variants of SLC26A4 associated with enlarged vestibular
Externí odkaz:
https://doaj.org/article/37e80cb7eaa04d268500dd3764330ea2
Autor:
Yan-Qiong Li, Heng Ma, Qin-Yao Wang, De-Sheng Liu, Wei Wang, Shi-Xin Li, Rong-Xia Zuo, Tao Shen, Bao-Sheng Zhu, Ya-Lian Sa
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Background Gene variants are responsible for more than half of hearing loss, particularly in nonsyndromic hearing loss (NSHL). The most common pathogenic variant in SLC26A4 gene found in East Asian populations is c.919-2A > G followed by c.2
Externí odkaz:
https://doaj.org/article/88e8048fa4a540c69bc971e45a951652
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
Inner ear malformations are predominantly attributed to developmental arrest during the embryonic stage of membranous labyrinth development. Due to the inherent difficulty in clinically assessing the status of the membranous labyrinth, these malforma
Externí odkaz:
https://doaj.org/article/1e7de26f258841c0b741790d4501889a
Akademický článek
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Autor:
Suyang Wang, Yi‐Ming Zhu, ChenYang Xu, Wenjuan Ding, Hui Jia, Panpan Bian, Baicheng Xu, Yufen Guo, Xiaowen Liu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Objective We aimed to evaluate the genotype–phenotype relationship in two Chinese family members with enlarged vestibular aqueduct (EVA). Methods We collected blood samples and clinical data from each pedigree family member. Genomic DNA wa
Externí odkaz:
https://doaj.org/article/1cd562f148bc43639d023abb66e6a0ac
Autor:
Amanat Ali, Mohammed Tabouni, Praseetha Kizhakkedath, Ibrahim Baydoun, Mushal Allam, Anne John, Faiza Busafared, Ayesha Alnuaimi, Fatma Al-Jasmi, Hiba Alblooshi
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Background: Hearing loss (HL) is an impairment of auditory function with identified genetic forms that can be syndromic (30%) or non-syndromic (70%). HL is genetically heterogeneous, with more than 1,000 variants across 150 causative genes identified
Externí odkaz:
https://doaj.org/article/7e63ed68d0604a8eb3fd8833945c8d3f
Autor:
Yanqiu Liu, Lei Wang, Lanlai Yuan, Yaqing Li, Zhengshi Chen, Bicheng Yang, Daqing Wang, Yu Sun
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Background: Preconception or prenatal carrier screening plays an important role in reproductive decision-making, but current research on hereditary deafness is limited. This study aimed to investigate the carrier frequencies of common deafness genes
Externí odkaz:
https://doaj.org/article/a4faa5de29e747349dd235d0adcbd275
Autor:
Jin-Young Koh, Corentin Affortit, Paul T. Ranum, Cody West, William D. Walls, Hidekane Yoshimura, Jian Q. Shao, Brian Mostaert, Richard J.H. Smith
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-17 (2023)
Abstract Background The primary pathological alterations of Pendred syndrome are endolymphatic pH acidification and luminal enlargement of the inner ear. However, the molecular contributions of specific cell types remain poorly characterized. Therefo
Externí odkaz:
https://doaj.org/article/69b39b5275134f77bb652356de04ec38
Publikováno v:
Heliyon, Vol 9, Iss 11, Pp e21185- (2023)
Background: Hearing loss is found in more than 5 % of cases worldwide. Hearing loss is divided into three types: Sensorineural hearing loss, Combined hearing loss and Conductive hearing loss. Among them, no less than 50 % of pediatric cases of sensor
Externí odkaz:
https://doaj.org/article/cc88ed2a6fc34356bc521a35d810304f
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Enlarged vestibular aqueduct is an autosomal genetic disease mainly caused by mutations in the SLC26A4 gene and includes non-syndromic and syndromic types. This study aimed to identify genetic defects in a Chinese patient with non-syndromic enlarged
Externí odkaz:
https://doaj.org/article/7e7b6e458c6142188daf1cd76cec1623