Results 71 to 80 of about 334 (109)

Quantitation of stereocilia dimensions in transduction and Myo15a mutants

, 2019
Transduction mutant length and width data.xlsx contains data for Tmie KO and Tmc DKO mice at P7.5 and P21.5.sh2 length and width data.xlsx contains data for Myo15a^sh2 mice at P8.5.For analyzing length and width of apical IHC stereocilia of Tmie, Tmc1 ...
Peter Barr-Gillespie (826803)
core   +1 more source

GDC: Integration of Multi‐Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss

Advanced Science, Volume 12, Issue 29, August 7, 2025.
Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng, Xuegang Wang, Mingjun Zhong, Jia Geng, Wenjian Li, Kanglu Pei, Jing Wang, Lanchen Wang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan   +11 more
wiley   +1 more source

The Reconstruction of Peripheral Auditory Circuit: Recent Advances and Future Challenges

Advanced Science, Volume 12, Issue 29, August 7, 2025.
This paper summarizes the potential of biomaterials, stem cells, and gene editing technologies in the regeneration of inner ear hair cells, spiral ganglion neurons, and inner ear organoids. Challenges and potential developments are discussed and explored.
Zhe Li, Ying Zhang, Zhenyu Xiao, Jieyu Qi   +3 more
wiley   +1 more source

Mutation analysis of families with autosomal recessive nonsyndromic hearing loss linked to the MYO15A gene

, 2010
Congenital or prelingual hearing loss occurs approximately in one case per 1000 live births. Genetic causes are responsible in 50% of cases. Additional findings are present in 30% of cases, which are referred to as having syndromic deafness.
Cengiz, Filiz Başak
core  

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

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss

BMC Medical Genomics
Background Hereditary hearing loss is a highly heterogeneous disorder. This study aimed to identify the genetic cause of a Chinese family with autosomal recessive non-syndromic sensorineural hearing loss (ARNSHL).
Kaifeng Zheng, Sheng Lin, Jian Gao, Shiguo Chen, Jindi Su, Zhiqiang Liu, Shan Duan   +6 more
doaj   +1 more source

Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next‐generation sequencing

Molecular Genetics & Genomic Medicine, 2019
Background Nonsyndromic hearing loss (NSHL) is the most common sensorineural disorder and one of the most common human defects. Autosomal recessive inheritance accounts for a huge percentage of familial cases.
Xuejing Bai, Shiyan Nian, Lei Feng, Qingrong Ruan, Xuan Luo, Mengna Wu, Zefeng Yan   +6 more
doaj   +1 more source

Dynamics of mitochondrial DNA copy number regulation in relation to gastric cancer survival

Discover Oncology
Purpose To investigate the causal effects of gene expression levels associated with mitochondrial DNA copy number (mtDNA-CN) on cancer survival outcomes.
Qizhou Yang, Tian Zhao, Yuying Han, Zhengguo Ji, Haihong Ye   +4 more
doaj   +1 more source

Genetic Diagnosis of Non-Syndromic Hearing Loss in South Indian Consanguineous Families Using Whole-Exome Sequencing

Medicina
Background and Objectives: Hereditary hearing loss is the most common auditory disability among various disabilities. Consanguineous populations have been found to have autosomal recessive disorders twice as often as in the general population. This study
Jayakumar Swetha, Yogesh Vetriselvan, Manoranjani Murugan, Irisappan Ganesh, Sambandam Ravikumar, Kumar Rangarajalu, M. Manju, Ballambattu Vishnu Bhat   +7 more
doaj   +1 more source

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort

Molecular Genetics & Genomic Medicine, 2019
Background Hearing loss or hearing impairment is a clinically and genetically heterogeneous disorder. More than 117 genes were discovered to date in hereditary, nonsyndromic hearing loss (NSHL).
Amjad Khan, Shirui Han, Rongrong Wang, Muhammad Ansar, Wasim Ahmad, Xue Zhang   +5 more
doaj   +1 more source