Results 181 to 190 of about 64,155 (301)

Repeated Disuse Atrophy Imprints a Molecular Memory in Skeletal Muscle: Transcriptional Resilience in Young Adults and Susceptibility in Aged Muscle

Advanced Science, EarlyView.
Repeated disuse imprints a molecular memory in skeletal muscle, conferring transcriptional resilience in young adults but exaggerated susceptibility in aged muscle, driven by epigenetic regulation of aerobic metabolism, mitochondrial and NAD+ pathways.
Daniel C. Turner, Truls Raastad, Max Ullrich, Stian F. Christiansen, Hazel Sutherland, James Boot, Eva Wozniak, Charles Mein, Emilie Dalbram, Jonas T. Treebak, Daniel J. Owens, David C. Hughes, Sue C. Bodine, Jonathan C. Jarvis, Adam P. Sharples   +14 more
wiley   +1 more source

TNF receptor–related factor 3 inactivation promotes the development of intrahepatic cholangiocarcinoma through NF‐κB‐inducing kinase–mediated hepatocyte transdifferentiation

Hepatology, EarlyView., 2022
Abstract Background and Aims Intrahepatic cholangiocarcinoma (ICC) is a deadly but poorly understood disease, and its treatment options are very limited. The aim of this study was to identify the molecular drivers of ICC and search for therapeutic targets.
Yuto Shiode, Takahiro Kodama, Satoshi Shigeno, Kazuhiro Murai, Satoshi Tanaka, Justin Y. Newberg, Jumpei Kondo, Shogo Kobayashi, Ryoko Yamada, Hayato Hikita, Ryotaro Sakamori, Hiroshi Suemizu, Tomohide Tatsumi, Hidetoshi Eguchi, Nancy A. Jenkins, Neal G. Copeland, Tetsuo Takehara   +16 more
wiley   +1 more source

Identification of a novel variant in <i>MLH1</i> intron causing aberrant splicing associated with Lynch syndrome. [PDF]

Gastroenterol Rep (Oxf)
Liu AX, Liu KH, Guo RY, Ying JM, Zou SM, Dong L.   +5 more
europepmc   +1 more source

Drug Discovery for Genetic Diseases Caused by Aberrant mRNA Splicing

, 2020
Masatoshi Hagiwara
openalex   +2 more sources

Extreme Kinetic Stability and RNase Resistance of Human Telomerase RNA G‐Quadruplexes Overcome by DHX36 Helicase

Advanced Science, EarlyView.
The RNA G‐quadruplexes formed at the 5'‐end of the RNA component of human telomerase possess extreme slow unfolding rate, rendering them resistant to nuclease degradation. The helicase DHX36 overcame this kinetic barrier and significantly reduced the folded fraction.
Qun Luo, Yashuo Zhang, Yingxian Qian, Huiying Zhan, Wenqiang Wu, Huijuan You   +5 more
wiley   +1 more source

Proteogenomic characterization of cholangiocarcinoma

Hepatology, EarlyView., 2022
Proteogenomic characterization of cholangiocarcinoma with therapeutic strategies Abstract Background and Aims Cholangiocarcinoma (CCA) is a highly heterogeneous cancer with limited understanding and few effective therapeutic approaches. We aimed at providing a proteogenomic CCA characterization to inform biological processes and treatment ...
Mengjie Deng, Peng Ran, Lingli Chen, Yunzhi Wang, Zixiang Yu, Ke Cai, Jinwen Feng, Zhaoyu Qin, Yanan Yin, Subei Tan, Yang Liu, Chen Xu, Guoming Shi, Yuan Ji, Jian‐Yuan Zhao, Jian Zhou, Jia Fan, Yingyong Hou, Chen Ding   +18 more
wiley   +1 more source

Minigenes enhance heterologous expression and prevent aberrant splicing of mouse Spink1. [PDF]

Sci Rep
Berke G, Sahin-Tóth M.
europepmc   +1 more source

Genome editing of patient-derived iPSCs identifies a deep intronic variant causing aberrant splicing in hemophilia A. [PDF]

Blood Adv, 2023
Hiramoto T, Inaba H, Baatartsogt N, Kashiwakura Y, Hayakawa M, Kamoshita N, Nishimasu H, Nureki O, Kinai E, Ohmori T.   +9 more
europepmc   +1 more source

Deciphering the Evolution Pattern of Structural Variations Overlapped With Repetitive Sequence During Cattle Evolution

Advanced Science, EarlyView.
The authors complement bovine pan‐SV with massive novel structural variations (SVs) identified through long‐read sequencing of 83 globally distributed cattle breeds. Repetitive sequence‐mediated SVs (rep‐SV) exhibit distinct dynamic patterns throughout cattle sub‐speciation and/or domestication processes, including uneven distribution between chr‐X and
Zhifan Guo, Jinxiu Li, Adeniyi C. Adeola, Xueyan Jiang, Juntao Ma, Jian Xiao, Dexiang Hu, Kaixing Qu, Haihong Wu, Junren Chen, Zhanxing He, Tingting Yin, Ali Esmailizadeh, Jing Luo, Olivier Hanotte, Ya‐Ping Zhang, Yan Li   +16 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source