Results 191 to 200 of about 411,790 (378)

Alternative splicing generates variants in important functional domains of human slow skeletal troponin T.

, 1987
Reinhold Gahlmann, Anthony B. Troutt, Robert Wade, Peter W. Gunning, Larry Kedes   +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

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Alternative splicing of a Drosophila tropomyosin gene generates muscle tropomyosin isoforms with different carboxy-terminal ends. [PDF]

, 1984
G.S. Basi, M Boardman, Robert V. Storti
openalex   +1 more source

Tumor‐Associated Sympathetic Nerves Promote the Progression of Epstein‐Barr Virus‐Positive Diffuse Large B‐Cell Lymphoma

Advanced Science, EarlyView.
Sympathetic nerve innervation promotes the progression of Epstein‐Barr virus‐positive diffuse large B‐cell lymphoma (EBV+ DLBCL) via β2‐adrenergic receptors. The discovery of enhanced nerve infiltration and β2AR expression reveals a novel mechanism and highlights the sympathetic–β2AR axis as a promising target for therapeutic intervention in EBV+ DLBCL.
Silan Huang, Dexin Lei, Linbin Yang, Aiwei Bi, Yanlou Wang, Peng Zhang, Dongyu Zhuang, Honglian Liu, Qingqing Cai, Man Nie, Yi Xia   +10 more
wiley   +1 more source

piR‐RCC Suppresses Renal Cell Carcinoma Progression by Facilitating YBX‐1 Cytoplasm Localization

Advanced Science, EarlyView.
PIWI‐interacting RNAs (piRNAs), a novel category of small non‐coding RNAs, have been implicated in the development of various diseases. This study explores the tumor‐suppressive mechanism of a downregulated piRNA (designated piR‐RCC) in renal cell carcinoma (RCC), and provides a delivery strategy targeting RCC tumor by constructing a cell membrane ...
Ruyue Wang, Fan Li, Yudong Lin, Zeyi Lu, Wenqin Luo, Zhehao Xu, Ziwei Zhu, Yi Lu, Xudong Mao, Yang Li, Zhinian Shen, Haohua Lu, Yining Chen, Liqun Xia, Mingchao Wang, Lifeng Ding, Gonghui Li   +16 more
wiley   +1 more source

Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.

, 1988
Stany Chrétien, Anne Dubart‐Kupperschmitt, D Beaupain, Natacha Raich, Bernard Grandchamp, Jean‐Philippe Rosa, M. Goossens, Paul‐Henri Roméo   +7 more
openalex   +1 more source

Listerin Alleviates Alzheimer's Disease through IRE1‐mediated Decay of TLR4 mRNA

Advanced Science, EarlyView.
Alzheimer's disease (AD) progression is influenced by microglia‐mediated neuroinflammation. Here, it is demonstrated that Listerin suppresses neuroinflammatory signaling and cognitive impairment in AD models by triggering IRE1α‐mediated TLR4 mRNA decay. Adenoviral Listerin delivery reduces amyloid‐β pathology, positioning it as a new therapeutic target.
Fei Qin, Runyu Cao, Xuemei Bai, Jiahua Yuan, Wanwei Sun, Yi Zheng, Xiaopeng Qi, Wei Zhao, Bingyu Liu, Chengjiang Gao   +9 more
wiley   +1 more source

CircTP53/USP10/p53 signaling Axis as a Novel Regulator of Progression and Prognosis of Head and Neck Squamous Cell Carcinoma

Advanced Science, EarlyView.
The study identifies a novel circular RNA derived from the TP53 gene (circTP53), which is upregulated in HNSCC and correlates with poor patient prognosis. It demonstrates that circTP53 promotes HNSCC progression by interacting with USP10, stabilizing both proteins, enhancing deubiquitination of p53, and thereby influencing tumor growth, with its ...
Yin Wang, Fen Chang, Zinan Li, Chengcheng Duan, Xiangkai Sun, Siyu Wang, Dongmin Wei, Wenming Li, Ye Qian, Shengda Cao, Juan Zhao, Dapeng Lei   +11 more
wiley   +1 more source

An Exonic Splicing Enhancer within a Bidirectional Coding Sequence Regulates Alternative Splicing of an Antisense mRNA [PDF]

, 2010
The discovery of increasing numbers of genes with overlapping sequences highlights the problem of expression in the context of constraining regulatory elements from more than one gene.
Hastings, Michelle Laura, Munroe, Stephen, Rediske, Nathaniel W., Salato, Valerie K., Zhang, Chao   +4 more
core   +1 more source