Results 121 to 130 of about 395,522 (295)

Exon-junction complex association with stalled ribosomes and slow translation-independent disassembly

Nature Communications
Exon junction complexes are deposited at exon-exon junctions during splicing. They are primarily known to activate non-sense mediated degradation of transcripts harbouring premature stop codons before the last intron.
Olivier Bensaude, Isabelle Barbosa, Lucia Morillo, Rivka Dikstein, Hervé Le Hir   +4 more
doaj   +1 more source

Glucose Deprivation‐Induced Disulfidptosis via the SLC7A11‐INF2 Axis: Pan‐Cancer Prognostic Exploration and Therapeutic Validation

Advanced Science, EarlyView.
Glucose deprivation or GLUT1 inhibition induces disulfidptosis in SLC7A11high ovarian cancer cells by promoting cystine accumulation, NADPH/ATP depletion, and F‐actin disulfide formation. SLC7A11 interacts with INF2 to further increase H₂O₂ levels and impair mitochondrial fission, suppressing cell migration. Targeting the SLC7A11–INF2 axis represents a
Zhenyu Song, Qiuming Yao, Lina Huang, Dan Cui, Jun Xie, Leilei Wu, Jianfeng Huang, Bo Zhai, Dan Liu, Xiao Xu   +9 more
wiley   +1 more source

Tissue and developmental regulation of fragile X mental retardation 1 exon 12 and 15 isoforms

Neurobiology of Disease, 2009
The pre-mRNA of the fragile X mental retardation 1 gene (FMR1) is subject to exon skipping and alternative splice site selection, which can generate up to 12 isoforms. The expression and function of these variants in vivo has not yet been fully explored.
Wen Xie, Natalia Dolzhanskaya, Giuseppe LaFauci, Carl Dobkin, Robert B. Denman   +4 more
doaj  

NOX2 Contributes to High‐Frequency Outer Hair Cell Vulnerability in the Cochlea

Advanced Science, EarlyView.
This study first identifies NOX2 as a differentially expressed gene related to oxidative damage in the apical and basal turns through single‐cell RNA sequencing. NOX2 gene knockout mitigates OHCs damage caused by neomycin and noise and enhances Nrf2 expression and nuclear translocation.
Meihao Qi, Zejun Gao, Yang Qiu, Renfeng Wang, Keyong Tian, Bo Yue, Xinyu Zhang, Peng Zhang, Ziqi Wu, Qingwen Zhu, Zhenzhen Liu, Zhuoyao Ma, Xueying Zhou, Yu Han, Jun Chen, Jianhua Qiu, DingJun Zha   +16 more
wiley   +1 more source

Self-splicing of a group II intron in yeast mitochondria: dependence on 5′ exon sequences. [PDF]

, 1987
Renske M. van der Veen, A.C. Arnberg, Les Grivell   +2 more
openalex   +1 more source

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

A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A [PDF]

, 1989
Vivian Chan, TK Chan, TM Tong, D. Todd
openalex   +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

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

Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis. [PDF]

, 1989
Kenneth E. Sahr, Takashi Tobe, A L Scarpa, K Laughinghouse, Sally L. Marchesi, Peter Agre, Alban J. Linnenbach, Vincent T. Marchesi, Bernard G. Forget   +8 more
openalex   +1 more source