Results 191 to 200 of about 325,490 (342)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Alternative splicing: hallmark and therapeutic opportunity in metabolic liver disease. [PDF]

Gastroenterol Rep (Oxf)
Jiang M, Alqahtani SA, Seto WK, Yilmaz Y, Pan Z, Valenti L, Eslam M.   +6 more
europepmc   +1 more source

Structure of a pre-mRNA branch point/3' splice site region. [PDF]

, 1988
Kathleen B. Hall, M R Green, Alfred G. Redfield   +2 more
openalex   +1 more source

Placental RTN3L‐dependent ER‐Phagy Contributes to Fetal Testicular Dysplasia Upon Environmental Stress

Advanced Science, EarlyView.
Gestational environmental stress activates ER‐phagy by increasing placental Rtn3l mRNA N6‐methyladenosine modification, further inhibiting placental estradiol synthesis and contributing to fetal testicular dysplasia. This study demonstrates the early prevention and treatment of adult male infertility from the perspective of fetal‐derived diseases ...
Ye‐Xin Luo, Hua‐Long Zhu, Bin‐Bin Huang, Cheng‐Fang Sun, Xin‐Xin Zhang, Xin‐Run Wang, Yi‐Fan Hu, Xu‐Dong Zhang, Shen‐Dong Xu, Huan Zhou, Rui Pan, Wei Chang, Zhi Yuan, Yong‐Wei Xiong, Xiao‐Feng Xu, Ling‐Li Zhao, De‐Xiang Xu, Hua Wang   +17 more
wiley   +1 more source

The transcription factor CfHac1 regulates the degradation of ubiquitin-mediated ER-associated misfolded proteins and pathogenicity in Colletotrichum fructicola. [PDF]

Stress Biol
Li S, Guo Y, Zhang S, Li H.
europepmc   +1 more source

Neoadjuvant Chemotherapy With Cisplatin Up‐Regulates GSDMD to Enhance Oral Squamous Cell Carcinoma Metastasis Through MMP14‐Mediated EMT Activation

Advanced Science, EarlyView.
Oral squamous cell carcinoma cells exhibit upregulated expression of GSDMD upon exposure to low‐dose cisplatin chemotherapy, which subsequently interacts with MMP14 through its N‐terminal domain, activating the epithelial‒mesenchymal transition (EMT) process and promoting the lymph node metastasis of oral squamous cell carcinoma.
Zixian Huang, Qiming Jiang, Qianyu Zhang, Nan Lu, Xi Rui, Rui Chen, Yan Wang, Yuepeng Wang, Xiaoding Xu, Zhiquan Huang   +9 more
wiley   +1 more source

Splice it hot: How nuclear PP2A B'η regulates splicing fidelity by targeting the heat-stressed spliceosome. [PDF]

Plant Cell
Wang J.
europepmc   +1 more source

Human renal carcinoma expresses two messages encoding a parathyroid hormone-like peptide: evidence for the alternative splicing of a single-copy gene.

, 1988
Mark A. Thiede, Gordon J Strewler, Robert A. Nissenson, Michael Rosenblatt, Gideon A. Rodan   +4 more
openalex   +1 more source

Saccharomyces cerevisiae coordinates accumulation of yeast ribosomal proteins by modulating mRNA splicing, translational initiation, and protein turnover. [PDF]

, 1985
Jonathan R. Warner, Gopa Mitra, Willam F. Schwindinger, Mary Studeny, Howard M. Fried   +4 more
openalex   +1 more source

Single‐Cell RNA Sequencing Delineates Renal Anti‐Fibrotic Mechanisms Mediated by TRPC6 Inhibition

Advanced Science, EarlyView.
Single‐cell transcriptomics reveals how TRPC6 inhibition alters renal cell composition and gene expression in CKD. The study uncovers a novel endothelial subpopulation (ECRIN), highlights key inflammatory and fibrotic pathways, and identifies a Prnp‐driven network linked to fibrosis resolution, offering mechanistic insight into TRPC6 as a potential ...
Yao Xu, Zhihuang Zheng, Marleen Silke Oswald, Guozhe Cheng, Jun Liu, Qidi Zhai, Ute Kruegel, Michael Schaefer, Holger Gerhardt, Nicole Endlich, Maik Gollasch, Stefan Simm, Dmitry Tsvetkov   +12 more
wiley   +1 more source