Results 161 to 170 of about 91,518 (258)

Phase Separation of SF3B1 Serves as a Critical Post‐Transcriptional Regulator During Early Mouse Embryogenesis

Advanced Science, EarlyView.
Phase separation of SF3B1 acts as a key regulatory mechanism for dynamic alternative splicing throughout early mouse embryogenesis. Its absence triggers extensive splicing errors, which induce persistent DNA damage, defective cell cycle progression, and failed cell lineage commitment, and ultimately hinder the normal growth and development of ...
Kang Zhao, Ting‐Yu Han, Yan‐Li Cheng, Yi‐Dan Zhang, Yu‐Wei Zhang, JinJian Guo, ShaoJun Zhang, WenZe Huang, Jing Zhang, Pei‐Yu Liao, Ying Xin, ChuanChen Chu, Qing‐Yuan Sun, ZhiZhen Liu, Xiang‐Hong Ou, Jun Xie   +15 more
wiley   +1 more source

TDP1 splice-site mutation causes HAP1 cell hypersensitivity to topoisomerase I inhibition. [PDF]

Nucleic Acids Res
Goh CG, Bader AS, Tran TA, Belotserkovskaya R, D'Alessandro G, Jackson SP.   +5 more
europepmc   +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

Mutant KRAS‐m6A Epitranscriptome Axis Promotes Colorectal Cancer and is a Therapeutic Target

Advanced Science, EarlyView.
Mutant KRAS‐m6A axis promotes colorectal cancer (CRC) progression. Mutant KRAS stabilizes METTL3, leading to increased m6A‐modified BCL9L mRNA and translation of BCL9L protein. BCL9L in turn mediates TGF‐β secretion to induce differentiation of Treg and an immunosuppressive microenvironment.
Danyu Chen, Pingmei Huang, Ruizhi Tao, Fenfen Ji, Qinyao Wei, Lok Hin Ko, Lianxin Zhou, Huarong Chen, Alvin Cheung, Wei Kang, Ko Fai To, Jun Yu, Chi Chun Wong   +12 more
wiley   +1 more source

Identification of a splice site mutation in IL2RG in a Chinese boy with X-linked severe combined immunodeficiency. [PDF]

Genes Dis
Ding F, Zhang H, Liu X, Lei L, Zhang H, Liu Z, Fang M, Lu S.   +7 more
europepmc   +1 more source

A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome. [PDF]

Front Pediatr, 2021
Li L, Bu X, Ji Y, Tan P, Liu S.
europepmc   +1 more source

SIRT7‐Mediated H2BK120 Succinylation Drives Aberrant Mitophagy in Sepsis‐Associated Cognitive Dysfunction

Advanced Science, EarlyView.
Sepsis triggers hippocampal SIRT7 loss, promoting histone H2B succinylation and activation of the PD‐1/PD‐L1–PINK1 axis. This metabolic‐epigenetic cascade drives aberrant mitophagy and neuronal injury, ultimately causing cognitive deficits. Targeting SIRT7‐dependent succinylation offers a potential strategy to protect brain function during sepsis ...
Na Meng, Jiateng Zhou, Xiaoyu Guo, Ting Hong, Xuelian Li, Xingyu Wei, Chanhua Zhang, Xixue Zhang, Songbin Liu, Yulin Zhang, Liangfang Yao, Lina Huang, Weidong Gu   +12 more
wiley   +1 more source

Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation. [PDF]

J Transl Med
Luo M, Wang Y, Liang J, Wan X.
europepmc   +1 more source

A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome. [PDF]

Clin Genet, 2022
Canpolat N, Liu D, Atayar E, Saygili S, Kara NS, Westfall TA, Ding Q, Brown BJ, Braun TA, Slusarski D, Karli Oguz K, Ozluk Y, Tuysuz B, Tastemel Ozturk T, Sever L, Sezerman OU, Topaloglu R, Caliskan S, Attanasio M, Ozaltin F.   +19 more
europepmc   +1 more source

Engineered Transformer Base Editor with Enhanced Editing Efficiency

Advanced Science, EarlyView.
A highly efficient transformer base editor system achieves robust genomic editing in a humanized mouse model. This work establishes a versatile and translatable platform, opening new avenues for precision gene therapy. ABSTRACT Canonical cytosine base editors (CBEs) achieve precise C‐to‐T conversions without inducing DNA double‐strand breaks (DSBs ...
Bowen Chen, Letong Liang, Rui Xu, Tianyi Wang, Hongyan Chen, Daru Lu   +5 more
wiley   +1 more source