Results 211 to 220 of about 159,772 (339)

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia. [PDF]

Iran Biomed J, 2021
Jamali E, Khalesi R, Bitarafan F, Almadani N, Garshasbi M.   +4 more
europepmc   +1 more source

A Modular DNAzyme for Precise Visualization and Intervention of Alternative Splicing Isoforms in Live Cells

Advanced Science, EarlyView.
A Stringent dUPlex‐activated Error Robust (SUPER) DNAzyme system enables real‐time imaging of alternative mRNA splicing (e.g., Bcl‐xL/Bcl‐xS) in living cells via target‐triggered split‐DNAzyme reassembly and dual‐color fluorescence. It also achieves mRNA‐selective knockdown through DNAzyme‐based gene regulation, serving as a versatile tool for splicing
Mengru Lin, Jiale Sun, Yuqing Mao, Yuhao Tang, Fuan Wang, Zhihong Liu, Jing Wang   +6 more
wiley   +1 more source

Retinal detachment associated with the splice site mutation c.53-1G>A in the <i>RS1</i> gene: A case report and review of the literature. [PDF]

SAGE Open Med Case Rep
Meng J, Cai S, Su G.
europepmc   +1 more source

Clinical and experimental phenotype of azole-resistant Aspergillus fumigatus with a HapE splice site mutation: a case report. [PDF]

BMC Infect Dis, 2021
Ito Y, Takazono T, Koga S, Nakano Y, Ashizawa N, Hirayama T, Tashiro M, Saijo T, Yamamoto K, Imamura Y, Miyazaki T, Yanagihara K, Izumikawa K, Mukae H.   +13 more
europepmc   +1 more source

Generation and validation of a Leber Congenital Amaurosis, Type 12 patient-specific iPSC line (LVPEIi006-B) with a splice-site mutation in RD3 and an isogenic mutation-corrected iPSC line (LVPEIi006-B-1)

Sudipta Mahato, Savitri Maddileti, Trupti Agrawal, Sundaram Acharya, Chitra Kannabiran, Subhadra Jalali, Debojyoti Chakraborty, Indumathi Mariappan   +7 more
openalex   +1 more source

Single‐Cell Mitochondrial Lineage Tracing Decodes Fate Decision and Spatial Clonal Architecture in Human Hematopoietic Organoids

Advanced Science, EarlyView.
This study repurposes mitochondrial DNA mutations as endogenous barcodes for lineage tracing in human pluripotent stem cell‐derived organoids. Integrated with transcriptomic and spatial data, it reveals NOTCH‐mediated stromal‐progenitor crosstalk orchestrates clonal dynamics and spatial zonation during early hematopoietic development, offering a non ...
Yan Xue, Junhao Su, Yiming Chao, Lu Liu, Xinyi Lin, Yang Xiang, Mun Kay Ho, Zezhuo Su, Junyi Chen, Zhuojuan Luo, Chengqi Lin, Ruibang Luo, Theo Aurich, Jianfeng Wu, Kelvin Sin Chi Cheung, Yuanhua Huang, Joshua W. K. Ho, Ryohichi Sugimura   +17 more
wiley   +1 more source

A novel RUNX2 splice site mutation in Chinese associated with cleidocranial dysplasia. [PDF]

Heliyon
Wang J, Li Q, Li H, Liu X, Hu Y, Bai Y, Yang K.   +6 more
europepmc   +1 more source

A Splice Site-Sensing Conformational Switch in U2AF2 is Modulated by U2AF1 and its Recurrent Myelodysplasia-Associated Mutation [PDF]

, 2019
Chandani Warnasooriya, Eliezra Glasser, Callen F. Feeney, Kholiswa M. Laird, Jermaine L. Jenkins, Dmitri N. Ermolenko, Clara L. Kielkopf   +6 more
openalex   +1 more source

Multi‐Tissue Genetic Regulation of RNA Editing in Pigs

Advanced Science, EarlyView.
This study presents the first multi‐tissue map of RNA editing and its genetic regulation in pigs. By integrating RNA editing profiles, edQTL mapping, GWAS, and cross‐species comparisons, this work establishes RNA editing as a distinct regulatory layer linking genetic variation to complex traits, highlighting its functional and evolutionary significance.
Xiangchun Pan, Wentao Gong, Xiaodian Cai, Jinyan Teng, Jiali Cai, Haonan Zeng, Wondossen Ayalew, Qingpeng Shen, Zhanming Zhong, Yifei Wang, Wenjing Zhang, Yuhan Tian, Dantong Xu, Yahui Gao, Hongwei Yin, Yuebo Zhang, Jiahui Hou, Tianru Zhou, Jiaqi Li, Lingzhao Fang, Xiaolong Yuan, Zhe Zhang   +21 more
wiley   +1 more source

A Novel Intronic Splice-Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development. [PDF]

Int J Environ Res Public Health, 2021
Matusik P, Gach A, Zajdel-Cwynar O, Pinkier I, Kudela G, Gawlik A.   +5 more
europepmc   +1 more source