Results 241 to 250 of about 419,485 (330)

Longitudinal 12-Month Follow-Up of a Male Infant with <i>CYP21A2</i> Compound Heterozygous Genotype in China: A Case Report. [PDF]

AJP Rep
Yin Y, Huang X, Shi Y, Huang C, Yu J, Liu Q.   +5 more
europepmc   +1 more source

Deletion of exon 15 of the LDL receptor gene is associated with a mild form of familial hypercholesterolemia. FH-Espoo. [PDF]

, 1993
Pekka Koivisto, Ulla-Maija Koivisto, Petri T. Kovanen, Helena Gylling, T.A. Miettinen, Kimmo Kontula   +5 more
openalex   +1 more source

Structural Variations Associated with Adaptation and Coat Color in Qinghai‐Tibetan Plateau Cattle

Advanced Science, EarlyView.
This study reveals the landscape of structural variants in Qinghai‐Tibetan Plateau cattle through long‐read sequencing. Discoveries include metabolic and oxygen‐regulation gene variants, along with a 2‐Mb KIT‐containing inversion and translocations responsible for cattle gray coat. These findings highlight the significant role of structural variants in
Xiaoting Xia, Fuwen Wang, Xiaoyu Luo, Shuang Li, Yang Lyu, Yining Zheng, Zhijie Ma, Kaixing Qu, Rende Song, Jianyong Liu, Jicai Zhang, Basang Wangdui, Basang Zhuzha, Suolang Quji, Li Zhao, Silang Wangmu, Ciren Luobu, Nima Cangjue, Danzeng Luosang, Suolang Sizhu, Haijian Cheng, Ruizhe Li, Zhipeng Wu, Ruihua Dang, Yongzhen Huang, Xianyong Lan, Luohao Xu, Haifei Hu, WaiYee Low, Zhuqing Zheng, Yu Wang, Yuanpeng Gao, Lu Deng, Johannes A. Lenstra, Jianlin Han, Xueyi Yang, Wenfa Lyu, Bizhi Huang, Chuzhao Lei, Ningbo Chen   +39 more
wiley   +1 more source

<i>BRCA2</i> Pre-mRNA Differential 5' Splicing: A Rescue of Functional Protein Properties from Pathogenic Gene Variants and a Lifeline for Fanconi Anemia D1 Patients. [PDF]

Int J Mol Sci
Paredes R, Batta K, Wiseman DH, Gothbi R, Dalal V, Schmidt CK, Kalb R, Meyer S, Schindler D.   +8 more
europepmc   +1 more source

U1 snRNP targets an essential splicing factor, U2AF65, to the 3' splice site by a network of interactions spanning the exon.

, 1992
Bryan E. Hoffman, Paula J. Grabowski
openalex   +1 more source

Splicing Shift of RAC1 Accelerates Tumorigenesis and Defines a Potent Therapeutic Target in Lung Cancer

Advanced Science, EarlyView.
Dysregulated RNA splicing is an underappreciated molecular feature of cancer. By integrating murine and cellular models with patient specimens of lung adenocarcinoma, this study demonstrates that RAC1B, rather than RAC1A isoform, promotes tumorigenesis and presents a potent therapeutic target for lung cancer. Mechanistically, RAC1B preferentially binds
Yueren Yan, Ning Wang, Bowen Xing, Min Yang, Jun Shang, Yufang Bao, Lixing Xiao, Ningxia Zhang, Yunpeng Ren, Chunnan Liu, Yuting Chen, Han Han, Yunjian Pan, Lei Lv, Wei‐Xing Zong, Hongbin Ji, Changyou Zhan, Zefeng Wang, Haiquan Chen, Yongbo Wang   +19 more
wiley   +1 more source

Author Correction: Full-length RNA-Seq of the RHOH gene in human B cells reveals new exons and splicing patterns. [PDF]

Sci Rep
Leprêtre F, Meneboo JP, Villenet C, Delestré L, Quesnel B, Shelley CS, Figeac M, Galiègue-Zouitina S.   +7 more
europepmc   +1 more source

Smooth muscle-specific switching of alpha-tropomyosin mutually exclusive exon selection by specific inhibition of the strong default exon.

, 1994
Clare Gooding, Gavin C Roberts, G. Moreau, B Nadal-Ginard, C. Wayne Smith   +4 more
openalex   +1 more source

SUMOylation is a Translatable Target in Hypoxic MNPs Regulating Retinal Vasculopathy

Advanced Science, EarlyView.
During ischemic retinopathy/retinal vasculopathy, UBC9‐mediated SUMOylation in retinal macrophages enhances their pro‐angiogenic capacity via hypoxia‐induced SUMOylation of FUS at K327/K502. This modification suppresses FUS binding to the Vegfa mRNA 3’UTR, stabilizing transcripts and facilitating VEGFA production. Targeting UBC9 inhibition can serve as
Zheng Zhong, Guangyu Liang, Huimin Yu, Jiaqi Li, Ruohong Wang, Xiaohong Ma, Ziqing Zhou, Yin Zhao, Fei Sun, Xufang Sun   +9 more
wiley   +1 more source

RACE-Nano-Seq: Profiling Transcriptome Diversity of a Genomic Locus. [PDF]

Bio Protoc
Tang L, Xu D, Kapranov P.
europepmc   +1 more source