Results 121 to 130 of about 880,277 (345)

AAVR Expression is Essential for AAV Vector Transduction in Sensory Hair Cells

Advanced Science, EarlyView.
Decreased sensitivity to AAV vector transduction in the outer hair cells (OHCs) of adult mice is primarily attributed to reduction of AAVR (Kiaa0319l; Au040320). Knockout of AAVR reduces AAV vector transduction efficiency in both inner hair cells (IHCs) and OHCs in neonatal mice.
Fan Wu, Guisheng Chen, Rui Hu, Peiwen Liu, Jintao Lou, Wenji Zhao, Zuhong He, Suhua Sha, Yiqing Zheng   +8 more
wiley   +1 more source

Single Administration of AAV‐mAtp6v1b2 Gene Therapy Rescues Hearing and Vestibular Disorders Caused by Atp6v1b2‐Induced Lysosomal Dysfunction in Hair Cells

Advanced Science, EarlyView.
Wei et al. establish a hair cell‐specific conditional knockout mouse model (Atp6v1b2fl/fl;Atoh1Cre/+), and demonstrate the importance of Atp6v1b2 for hair cell through maintaining the survival of lysosomes. A single administration of AAV‐ie‐Eh3‐mAtp6v1b2 through scala media at P0‐P2 realizes function compensation and restores hearing and balance ...
Gege Wei, Shiwei Qiu, Xue Gao, Lu Zheng, Yijin Chen, Ying Ma, Haifeng Feng, Jinyuan Yang, Guojie Dong, Huiyi Nie, Weihao Zhao, Xiaoge Li, Guangqin Wang, Wei Xiong, Pu Dai, Yongyi Yuan   +15 more
wiley   +1 more source

A Comparison Between the Position Effects of Normal and Mutant Alleles [PDF]

, 1946
Curt Stern, Elizabeth White Schaeffer, Gertrude Heidenthal   +2 more
openalex   +1 more source

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

Advanced Science, EarlyView.
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

Further Evidence of an Incompatibility Allele System in the Complex- Heterozygotes of Oenothera [PDF]

, 1957
Erich Steiner
openalex   +1 more source

Long‐Lasting Auditory and Vestibular Recovery Following Gene Replacement Therapy in a Novel Usher Syndrome Type 1c Mouse Model

Advanced Science, EarlyView.
This study shows that gene replacement therapy using the AAV2/Anc80L65 virus can successfully restore hearing and balance in Ush1c knockout mice. The treatment leads to lasting improvements in both auditory and vestibular functions, highlighting its potential as a therapeutic approach for genetic hearing loss and vestibular disorders in humans ...
Weinan Du, Jun Huang, Aizhen Zhang, Fangfang Zhao, Tianwen Chen, Quinn M. McDermott, Tony Zheng, Haibo Wang, Rongli Zhang, Xiaolin Zhang, Jerome Allison, Hong Zhu, Wu Zhou, Qing Yin Zheng   +13 more
wiley   +1 more source

Occurrence of Alleles of the HLA-A/B/C/DPB1/DQB1/DRB1 Genes in Autoimmune Hepatitis (Results of a Single-Center Study)

Российский журнал гастроэнтерологии, гепатологии, колопроктологии
Aim: determination of alleles of HLA genes associated with autoimmune hepatitis (AIH) and overlap syndrome (OS) in the Russian population.Materials and methods. The study included 160 adult patients with a verified diagnosis of AIH or OS.
M. D. Chanyshev, Yu. G. Sandler, N. V. Vlasenko, N. A. Bodunova, A. G. Glushchenko, A. S. Chegodar, A. V. Vykhodtseva, E. V. Vinnitskaya, K. F. Khafizov, V. G. Akimkin   +9 more
doaj   +1 more source

Characterizing the Major Structural Variant Alleles of the Human Genome

Cell, 2019
P. Audano, Arvis Sulovari, Tina A. Graves-Lindsay, Stuart Cantsilieris, Melanie Sorensen, AnneMarie E. Welch, Max L. Dougherty, Bradley J. Nelson, Ankeeta Shah, S. Dutcher, W. Warren, V. Magrini, S. McGrath, Yang I. Li, R. Wilson, E. Eichler   +15 more
semanticscholar   +1 more source

ELECTROMORPHS OR ALLELES? [PDF]

Genetics, 1977
openaire   +3 more sources

Presbycusis: Pathology, Signal Pathways, and Therapeutic Strategy

Advanced Science, EarlyView.
In ARHL, the stria vascularis, acting as a cochlear battery, gradually loses its ability to maintain the endocochlear potential, leading to impaired hair cell function and progressive hearing loss. Single‐cell sequencing reveals age‐related cellular changes in the cochlea, providing insights into the underlying mechanisms of aging and potential ...
Xiaoxu Zhao, Tian Shen, Shengda Cao, Ziyi Liu, Wendu Pang, Meixuan Li, Jingjing Liu, Wen Li, Yunhao Wu, Chengcheng Liu, Ming Xia, Xiaolong Fu, Cheng Cheng   +12 more
wiley   +1 more source