Results 71 to 80 of about 880,486 (157)

NAT10‐mediated N4‐acetylcytidine modification drives RNA splicing of PML to alleviate adipose‐derived stem cell senescence and promote diabetic wound healing

Clinical and Translational Medicine, Volume 16, Issue 6, June 2026.
N‐acetyltransferase 10 (NAT10) catalyses N4‐acetylcytidine (ac4C) modification of PML pre‐mRNA, shifting splicing from the senescence‐promoting PML‐FL to the senescence‐inhibiting PML‐S isoform via SRSF1. This rejuvenates adipose‐derived stem cells (ADSCs) by reducing senescence markers and senescence‐associated secretory phenotype (SASP), thereby ...
Wuhan Wei, Chanyuan Jiang, Dong Zhu, Xuefeng Han, Xuan Ma, Xinyu Jia, Jiaqi Ling, Rui Zhang, Facheng Li, Ningbei Yin   +9 more
wiley   +1 more source

Identification of a novel ANK1 gene variant c.1504-9G>A and its mechanism of intron retention in hereditary spherocytosis

Frontiers in Genetics
Objective: The objective of this study was to pinpoint pathogenic genes and assess the mutagenic pathogenicity in two pediatric patients with hereditary spherocytosis.Methods: We utilized whole-exome sequencing (WES) for individual analysis (case 1) and ...
Ting Xiong, Zhongjin Xu, Qian Wan, Feng Chen, Yao Ye, Hong Wang, Chongjun Wu   +6 more
doaj   +1 more source

De novo UNC13B mutation identified in a bipolar disorder patient increases a rare exon‐skipping variant

Neuropsychopharmacology Reports, 2018
Aim We previously performed the first trio‐based exome study for bipolar disorder and identified 71 de novo mutations. Among these mutations, the only mutation located at the splice donor site was in UNC13B.
Takumi Nakamura, Kotori Jimbo, Kazuo Nakajima, Takashi Tsuboi, Tadafumi Kato   +4 more
doaj   +1 more source

Results of the splicing minigene analyses.

, 2014
RT-PCR analysis of the literature-derived E+1 variations. The splicing affecting sequences are underlined. (A) The test set sequences. cDNA bands originating from BTK exon 10 mutated minigene are numbered as follows: 1) cryptic 3′ss utilization 31 nt ...
Emanuele Buratti (11907), Ladislav Dušek (525705), Lucie Grodecká (525702), Francisco E. Baralle (11908), Pavla Lockerová (525703), Barbora Ravčuková (525704), Tomáš Freiberger (5658001)   +6 more
core   +1 more source

Post-transcriptional regulation of 5-lipoxygenase mRNA expression via alternative splicing and nonsense-mediated mRNA decay [PDF]

, 2012
5-Lipoxygenase (5-LO) catalyzes the two initial steps in the biosynthesis of leukotrienes (LT), a group of inflammatory lipid mediators derived from arachidonic acid.
Laura Pufahl (182448), Manuel Grez, Grez, Manuel, Ochs, Meike J., Sorg, Bernd L., Beatrix Suess (17019), Sorg Bernd L., Laura Pufahl, Sorg, Bernd Lothar, Bernd L Sorg, Beatrix Suess, Bernd L. Sorg (182441), Suess Beatrix, Grez Manuel, Steinhilber Dieter, Dieter Steinhilber (182458), Meike J. Ochs (182432), Suess, Beatrix, Manuel Grez (182453), Dieter Steinhilber, Meike J Ochs, Pufahl, Laura, Süß, Beatrix, Pufahl Laura, Ochs, Meike, Steinhilber, Dieter, Ochs Meike J.   +26 more
core   +2 more sources

Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay

Artificial Cells, Nanomedicine, and Biotechnology
Pathogenic variants in the KIDINS220 gene can cause SINO syndrome (OMIM #617296), VENARG syndrome (OMIM #619501), or other neurological and metabolic disorders such as obesity and nystagmus.
Lu Bai, Yu Hei, Rujin Tian, Haozheng Zhang, Hongmei Xin, Yanan Yang, Lili Ge, Yuqiang Lv, Xiao Mu, Zhongtao Gai, Guohua Liu, Lifen Gao, Kaihui Zhang   +12 more
doaj   +1 more source

Minigene splicing assay of IRF-3.

, 2013
(A) The wild type (wt) and mutant (mu) versions of the IRF-3 minigene are shown. PCMV, promoter of the pcDNA3.0 vector. pA, polyA signal. IRF-3 exons from 1 to 4 are numbered. The black solid line represents introns.
Jinying Ning (408159), Lianjun Lin (408160), Yong Li (15029), Xinmin Liu (408161), Rong Guo (50063), Dan Sun (140898)   +5 more
core   +1 more source

Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome

, 2023
Background: Gitelman syndrome (GS) is a type of salt-losing tubular disease, most of which is caused by SLC12A3 gene variants, and missense variants account for the majority. Recently, the phenomenon of exon skipping, in which variants disrupt normal pre-
Lang, Yanhua, Dong, Bingzi, Shao, Leping, Shi, Xiaomeng, Liu, Zhiying, Wang, Sai, Wang, Hong, Zhang, Ruixiao, Bottillo, Irene, Liu, Xuyan, Guo, Wencong   +10 more
core   +1 more source

Hemizygous splicing variant in CNKSR2 results in X‐linked intellectual developmental disorder

Molecular Genetics & Genomic Medicine
Background Intellectual disability (ID) refers to a childhood‐onset neurodevelopmental disorder with a prevalence of approximately 1%–3%. Methods We performed whole exome sequencing for the patient with ID. And the splicing variant we found was validated
Yuting Lou, Xinglei Shi, Guofa Su, Yufan Guo, Liuyan Gao, Ye Wang, Pu Miao, Jianhua Feng   +7 more
doaj   +1 more source

A Novel Splicing Mutation in a Chinese Family With Branchio-Oto Syndrome: A Functional Analysis and Reproductive Intervention [PDF]

Clinical and Experimental Otorhinolaryngology
Objectives Branchio-oto syndrome (BOS) is an autosomal dominant disorder characterized by multiple system anomalies, typically sparing the kidneys. BOS exhibits considerable clinical heterogeneity and ethnic variability; most studies have been conducted ...
Anhai Chen, Lu Jiang, Zequn Nie, Jian Song, Chufeng He, Lingyun Mei, Yalan Liu   +6 more
doaj   +1 more source