Results 101 to 110 of about 83,578 (286)

Characterization of cardiac involvement in patients with LMNA splice-site mutation-related dilated cardiomyopathy and sudden cardiac death. [PDF]

Front Genet, 2023
Ling X, Hou Y, Jia X, Lan Y, Wu X, Wu J, Jie W, Liu H, Huang S, Wan Z, Li T, Guo J, Liang T.   +12 more
europepmc   +1 more source

Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by ectopic transcript analysis [PDF]

, 1993
Bent Lind, WW van Solinge, M. Schwartz, S Thorsen   +3 more
openalex   +1 more source

Exploring AAV‐Mediated Gene Therapy for Inner Ear Diseases: from Preclinical Success to Clinical Potential

Advanced Science, EarlyView.
Current preclinical studies of AAV‐mediated gene therapy explore different strategies based on the characteristics of inner ear diseases. For genetic hearing loss, approaches include the replacement of a “good gene,” removal of a “bad gene,” or direct correction of mutations through base editing.
Fan Wu, Wuhui He, Yun Xiao, Qiong Wu, Qing Zhang, Tiesong Zhang, Lei Xu, Xinyi Pang   +7 more
wiley   +1 more source

First de novo mutations in the protein C gene of two patients with type I deficiency: a missense mutation and a splice site deletion [PDF]

, 1994
Sophie Gandrille, Brigitte Jude, Martine Alhenc‐Gelas, Joseph Emmerich, Martine Aiach   +4 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

Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation

Molecular Therapy: Nucleic Acids, 2019
Manipulation of pre-mRNA processing is a promising approach toward overcoming disease-causing mutations and treating human diseases. We show that a combined treatment applying two splice-manipulating technologies improves therapeutic efficacies to ...
Saskia Breuel, Mariann Vorm, Anja U. Bräuer, Marta Owczarek-Lipska, John Neidhardt   +4 more
doaj  

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

METTL14‐Mediated M6A Modification of LINC01094 Induces Glucose Metabolic Reprogramming in Breast Cancer by Recruiting the PKM2/JMJD5 Complex

Advanced Science, EarlyView.
METTL14/IGF2BP2‐mediated m6A modification drives LINC01094 upregulation in BC. Then, LINC01094 interacts with PKM2 monomers to promote their dimerization, while serving as a flexible scaffold to facilitate the assembly of the PKM2/JMJD5 complex, synergistically stabilizing PKM2 dimers and enhancing their nuclear translocation.
Mengqi Wang, Zhaoxin Gao, Ruinan Zhao, Pan Zhou, Jingxi Chen, Hui Zhang, Yawen Wang, Wenjie Zhu, Peng Gao   +8 more
wiley   +1 more source

A novel splice-site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review. [PDF]

Mol Genet Genomic Med, 2023
Li C, Wen Y, Zhao M, Wang Y, Li P, Wang L, Wang S.   +6 more
europepmc   +1 more source

Rational Design of Inner Ear Drug Delivery Systems

Advanced Science, EarlyView.
Hearing loss is a common disease affecting many people, and inner ear lesions are one of the most important causes. This review focuses on the treatment of inner ear hearing loss by drug delivery systems. It includes the current methods and technologies developed, and it predicts possible directions.
Xiayidan Maimaitikelimu, Zhiyan Xuan, Haoyu Ren, Keng Chen, Hui Zhang, Huan Wang   +5 more
wiley   +1 more source