Results 261 to 270 of about 366,865 (319)

Genetic Analysis of Pitt-Hopkins Syndrome Caused by a Novel Splicing Variant (c.1146+3A>T) in the TCF4 Gene. [PDF]

Mol Genet Genomic Med
Shen W, Zhang Y, Wu J, Zhao J, Lv Y, Tang X.   +5 more
europepmc   +1 more source

CHCHD10 Mitigates Alzheimer's Disease‐Related Phenotypes in Association With Epigenetic Remodeling in Directly Reprogrammed Neurons

Advanced Science, EarlyView.
CHCHD10 loss in Alzheimer's disease is associated with mitochondrial dysfunction, epigenomic disruption, and tau pathology. Restoration of CHCHD10 shifts DNA methylation toward a non‐disease state and reduces tau and amyloid pathology, with KATNAL2 acting as a downstream effector.
Teresa M. Thomas, Ching‐Yao Yang, Kexin Zhang, Liam Wetzel, Dina Bugybayeva, Julia Ferguson, Md Mahmudul Hasan, William Samsa, Nandita Patil, Anshul Dash, Tarini Gowda, Xiongwei Zhu, Feixiong Cheng, Tian Liu   +13 more
wiley   +1 more source

Transcriptomic and alternative splicing reprogramming by low-dose gamma irradiation in tomato under ToBRFV infection. [PDF]

Biochem Biophys Rep
Ghorbani A, Rostami M, Koolivand D.
europepmc   +1 more source

RBM12 Maintains Glioma Stem Cells by Activating Amino Acid‐Dependent mTORC1 Signaling via SLC7A5 mRNA Stabilization

Advanced Science, EarlyView.
This study shows that in glioma stem cells (GSCs), RBM12 recruits ALKBH5 to remove m6A from SLC7A5 transcripts, thereby enhancing mRNA stability, which elevates large neutral amino acid (LNAA) levels and activates mTORC1, promoting GSC proliferation, self‐renewal, and tumor growth.
Hong Lei, Wenlong Luo, Shu Zhou, Lihao Wan, Peng Ling, Zhihua Huang, Zhihua Qian, Chenfei Lu, Mengyue Guo, Zhen Xue, Jun Qin, Ningwei Zhao, Jianghong Man, Wenchao Zhou, Zhiqiang Dong, Shutong Xu, Zhipeng Zhou, Xiuxing Wang, Weiwei Tao   +18 more
wiley   +1 more source

Coordinated alternative splicing decisions via stepwise exon definition. [PDF]

Nucleic Acids Res
Kristofori P, Xiao Z, Braun S, Busch A, Zarnack K, König J, Legewie S, Li C.   +7 more
europepmc   +1 more source

Identification and pathogenicity analysis of a novel intronic <i>COL4A5</i> variant in a Chinese family. [PDF]

Front Med (Lausanne)
Qian P, Huang HM, Suo L, Li Z, Zhang M, Bao Y.   +5 more
europepmc   +1 more source

The phosphoproteomic landscape of the neurological manifestations in tuberous sclerosis complex. [PDF]

Acta Neuropathol
Girodengo M, Mihaylov SR, Klonowska K, Mantoan Ritter L, Flynn HR, Skehel JM, Bou Farhat E, Aronica E, White M, Kwiatkowski DJ, Ultanir SK, Bateman JM.   +11 more
europepmc   +1 more source

Integrative RNA-seq and iRIP-seq analysis links SNRPA overexpression to transcriptomic and splicing alterations in hepatocellular carcinoma cells. [PDF]

Front Oncol
Chang Q, Wang Y, Xu J.
europepmc   +1 more source