Results 201 to 210 of about 394,248 (332)

Distinct Roles of apoE Receptor-2 Cytoplasmic Domain Splice Variants in Cardiometabolic Disease Modulation. [PDF]

Biomedicines
Jaeschke A, Haller A, Hui DY.
europepmc   +1 more source

Identification of an alternatively spliced site in human plasma fibronectin that mediates cell type-specific adhesion. [PDF]

, 1986
Martin J. Humphries, Steven K. Akiyama, Akira Komoriya, Kenneth Olden, Kenneth M. Yamada   +4 more
openalex   +1 more source

NAD+‐Boosters Improve Mitochondria Quality Control In Parkinson's Disease Models Via Mitochondrial UPR

Advanced Science, EarlyView.
Treatment of MPTP‐incubated cells with NAD+‐boosters increase the UPRmt/mitophagy‐related mitochondria quality control (MQC). Disturbed plasma UPRmt‐mitophagy‐mediated MQC profiles in PD patient samples. NMN inhibits motor deficit and forestalls neuropathology phenotypes of PD mice, which is required the atf4‐medicated UPRmt pathway.
Shuoting Zhou, Xi Xiong, Jialong Hou, Qi Duan, Yi Zheng, Tao Jiang, Jiani Huang, Haijun He, Jiaxue Xu, Keke Chen, Wenwen Wang, Jinlai Cai, Jingjing Qian, Huijun Chen, Weihong Song, XinShi Wang, Chenglong Xie   +16 more
wiley   +1 more source

Loss of SMARCA4 Leads to Intron Retention and Generation of Tumor-Associated Antigens in Small Cell Carcinoma of the Ovary, Hypercalcemic Type. [PDF]

Cancer Res
Raupach EA, Hegde AM, Garcia-Mansfield K, Alcantara M, Rose DL, Halperin RF, Orlando KA, Lang JD, Sharma R, David-Dirgo V, Facista SJ, Moore R, Kofman R, Jensen ZN, Zismann VL, Karnezis AN, Wang Y, Bennett LB, Whitsett TG, Kortylewski M, Hendricks WPD, Huntsman DG, Rodriguez-Rodriguez L, Weissman BE, Trent JM, Pirrotte P.   +25 more
europepmc   +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

Spliced and unspliced virus specific RNA sequences are associated with purified simian virus 40 chromatin [PDF]

, 1982
Martin Zenke, Gerhard Sauer
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

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort. [PDF]

Genome Med
Stark JC, Pipko N, Liang Y, Szuto A, Tsoi CT, Dickson MA, Yuki KE, Hou H, Scholten S, Pulsifer K, Acker M, Laver M, Murthy H, Moran OM, Bonnell E, Liang N, Sidhu J, Dupuis L, Seno MMG, Care4Rare Canada Consortium, Chard M, Jobling RK, Cameron J, Chami R, Inbar-Feigenberg M, Wilson MD, Chitayat DA, Boycott KM, Kyriakopoulou L, Mendoza-Londono R, Marshall CR, Dowling JJ, Costain G, Deshwar AR.   +33 more
europepmc   +1 more source

Alternate mRNA splicing is required for synthesis of adeno-associated virus VP1 capsid protein [PDF]

, 1988
James P. Trempe, B J Carter
openalex   +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