Results 131 to 140 of about 395,522 (295)

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

GT to AT transition at a splice donor site causes skipping of the preceding exon in Phenylketonuria [PDF]

, 1987
Joshua Marvit, Anthony G. DiLella, Kelly A. Brayton, Fred D. Ledley, Kathryn Robson, S.L.C. Woo   +5 more
openalex   +1 more source

EGR1 Promotes Craniofacial Bone Regeneration via Activation of ALPL⁺PDGFD⁺ Periosteal Stem Cells

Advanced Science, EarlyView.
ALPL+PDGFD+ (AP+) cells are distinct calvarial periosteal stem cells (PeSCs) with diminished postnatal activity. EGR1 drives PeSCs development via BMP signaling through its Znf2 domain and activates them via CTNNB1/WNT10B signaling through its Znf2/3 domains.
Yang Li, Dazhuang Lu, Fanqing Xu, Jun Yang, Dong Li, Chenlong Yang, Xin Chen, Xu Wang, Jia Qing, Hui Zhang, Yingfei Zhang, Fuchou Tang, Jie Qiao, Ophir D. Klein, Ping Zhang, Yongsheng Zhou   +15 more
wiley   +1 more source

Rescue of refractory splicing of cftr exon 12 pathological mutations G576A/G48C using antisense oligonucleotides

, 1970
Ariful Haque
openalex   +2 more sources

LRRC8A Regulates Outer Hair Cell Volume and Electromotility and is Required for Hearing

Advanced Science, EarlyView.
This study identifies LRRC8A‐dependent volume‐regulated anion channels (VRACs) as essential for cochlear outer hair cells' electromotility and auditory signal amplification. LRRC8A deficiency disrupts cell volume control, impairs auditory sensitivity, and causes deafness, while targeted LRRC8A re‐expression restores auditory function.
Shengnan Wang, Yuehui Xi, Qiaojun Fang, Sai Shi, Fei Wang, Fuyu Xian, Zhongyang Zhang, Yuxin Yang, Xishuo Jin, Xiaomin Wang, Chen Cao, Hailin Zhang, Nikita Gamper, Zhigang Xu, Haitao Shen, Ping Lv   +15 more
wiley   +1 more source

Nucleotide sequence and organization of the mouse adenine phosphoribosyltransferase gene: presence of a coding region common to animal and bacterial phosphoribosyltransferases that has a variable intron/exon arrangement. [PDF]

, 1985
Michael Dush, James M. Sikela, SA Khan, Jay A. Tischfield, P J Stambrook   +4 more
openalex   +1 more source

Cryptic Splicing of GAP43 mRNA is a Novel Hallmark of TDP‐43‐Associated ALS and AD

Advanced Science, EarlyView.
TDP‐43 dysfunction disrupts RNA processing, inducing cryptic exon 4a1 inclusion in GAP43 and reducing its protein levels. This aberrant splicing impairs axonal regeneration and contributes to neurodegeneration in ALS and AD. RNA‐seq of patient brains reveals GAP43 downregulation and 4a1 upregulation, identifying cryptic exon 4a1 as a potential ...
Mingming Yang, Qi Wang, Dongkun Kang, Shijia Wang, Yanli Jiang, Jian‐Zhi Wang, Chen Ming, Rong Liu, Jianlan Gu, Xiaochuan Wang   +9 more
wiley   +1 more source

Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.

, 1989
Dennis B. Lubahn, T. R. Brown, J A Simental, Henry N. Higgs, Claude J. Migeon, Elizabeth M. Wilson, Frank S. French   +6 more
openalex   +1 more source

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene

Advanced Science, EarlyView.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He, Min Yu, Yuhua Jiao, Yizhu Xu, Xuqin Liang, Wenbin Huang, Linping Xu, Yuxia Hou, Zhanping Ren, Beile Lyu, Zhenwei Qian, Pengpeng Liu, Jing Zhou, Huimei Huang, Chunyan Yin, Huaxiang Zhao, Yi Ding   +16 more
wiley   +1 more source

Individual exons encode the integral membrane domains of human myelin proteolipid protein.

, 1986
H J Diehl, Markus Schaich, Ralph-Michael BUDZINSKI, W. Stoffel   +3 more
openalex   +1 more source