Results 41 to 50 of about 35,186 (239)

Viral‐Mediated Connexin 26 Expression Combined with Dexamethasone Rescues Hearing in a Conditional Gjb2 Null Mice Model

Advanced Science, EarlyView.
AAV2.7m8 serotype combined with the gfaABC1D promoter targets infection of supporting cells (SCs). AAV2.7m8‐gfaABC1D‐Gjb2 administration to mice results in excessive immune responses. The combination of AAV2.7m8‐gfaABC1D‐Gjb2 with dexamethasone (DEX) shows a synergistic effect and enhances the gene therapy effect in a conditional Cx26 null mice model ...
Xiaohui Wang, Li Zhang, Sen Chen, Le Xie, Yue Qiu, Chenyang Kong, Ge Yin, Weijia Kong, Yu Sun   +8 more
wiley   +1 more source

Genetic determinants of metabolism in health and disease: from biochemical genetics to genome-wide associations [PDF]

, 2012
Increasingly sophisticated measurement technologies have allowed the fields of metabolomics and genomics to identify, in parallel, risk factors of disease; predict drug metabolism; and study metabolic and genetic diversity in large human populations. Yet
Dumas, ME, Holmes, E, Nicholson, JK, Robinette, SL   +3 more
core   +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

Modeling viral infectious diseases and development of antiviral therapies using human induced pluripotent stem cell-derived systems [PDF]

, 2015
The recent biotechnology breakthrough of cell reprogramming and generation of induced pluripotent stem cells (iPSCs), which has revolutionized the approaches to study the mechanisms of human diseases and to test new drugs, can be exploited to generate ...
Barzon, Luisa, Berto, Alessandro, Desole, Giovanna, Pacenti, Monia, Palu', Giorgio, Sinigaglia, Alessandro, Trevisan, Marta   +6 more
core   +2 more sources

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

Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria [PDF]

, 2019
Methylmalonic acidemia (MMA) is a propionate pathway disorder caused by dysfunction of the mitochondrial enzyme methylmalonyl-CoA mutase (MMUT). MMUT catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, an anaplerotic reaction which feeds into ...
Baumgartner, Matthias R, Chapman, Kimberly A, Cunningham, Gary, Forny, Patrick, Pumbo, Elena, Summar, Marshall L, Wongkittichote, Parith   +6 more
core   +1 more source

Nanotherapy for Neural Retinal Regeneration

Advanced Science, EarlyView.
Nanotechnology enhances ophthalmic treatments by improving drug delivery and regenerating ocular tissues, combating vision loss from retinal diseases through innovative nano‐systems. This review outlines ocular anatomy, pathology, immune microenvironment, and barriers, detailing nanocarrier characteristics, classification, and preparation methods, and ...
Chuyao Yu, Li Dong, Yujia Lv, Xuhan Shi, Ruiheng Zhang, Wenda Zhou, Haotian Wu, Heyan Li, Yitong Li, Zhou Li, Dan Luo, Wen‐Bin Wei   +11 more
wiley   +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

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

Metabolomics analysis of children with autism, idiopathic-developmental delays, and Down syndrome. [PDF]

, 2019
Although developmental delays affect learning, language, and behavior, some evidence suggests the presence of disturbances in metabolism are associated with psychiatric disorders.
Abbeduto, Leonard, Hertz-Picciotto, Irva, Orozco, Jennie Sotelo, Slupsky, Carolyn M   +3 more
core   +1 more source