Results 181 to 190 of about 80,852 (330)

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

RBM25 Drives Hepatocellular Carcinoma Progression by Stabilizing YAP Through Regulating Oncogenic Splicing‐switch of MYPT1

Advanced Science, EarlyView.
This study establishes that the RBM25‐PRPF40A interaction modulates MYPT1 splicing, promoting the production of the oncogenic long isoform. This isoform stabilizes YAP by suppressing its phosphorylation and subsequent proteasomal degradation, ultimately accelerating tumor growth.
Wenjing Zhang, Lili Zhi, Tian Huang, Lingya Feng, Chaoqun Chen, Huanhuan Wei, Xiaolong Liu, Lei Chen, Jinrui Zhang, Ge Zhang, Baofeng Zhao, Rong Liu, Dan Chen, Yangfan Qi, Yang Wang   +14 more
wiley   +1 more source

The MoSR‐MoDde1 Regulatory Axis: A Novel Determinant of DMI Sensitivity and a Target for Sustainable Rice Blast Control

Advanced Science, EarlyView.
The transcription factor MoSR governs DMI fungicide sensitivity in Magnaporthe oryzae through dual regulation of ergosterol biosynthesis and the detoxification enzyme MoDde1. Targeting MoDde1 via a small‐molecule inhibitor or host‐induced gene silencing enhances DMI efficacy against rice blast, offering a sustainable disease management strategy ...
Fan‐Zhu Meng, Wen‐Kai Wei, Meng‐Yao Wu, Min‐Zheng Cai, Yu‐Fu Wang, Li Zhao, Shuai Meng, Liang‐Fen Yin, Guido Schnabel, Wei‐Xiao Yin, Chao‐Xi Luo   +10 more
wiley   +1 more source

A Hepatocyte‐to‐Stellate Cell Axis Couples Alternate‐Day Fasting to Liver Fibrosis Resolution via ATG7 S‐Nitrosylation

Advanced Science, EarlyView.
Alternate‐day fasting suppresses mitochondrial complex II assembly via SDHAF4 to upregulate hepatocyte eNOS. The resulting nitric oxide S‐nitrosylates ATG7 at C184 in hepatic stellate cells, restraining autophagic flux and preventing their profibrotic activation.
Xueqiang Wang, Mengqi Zeng, Cunxiao Sun, Yuhan Gou, Zhaode Feng, Weiqiang Lv, Chaoying Yan, Hansen Wu, Pengfei Zhang, Jie Xu, Ke Cao, Hao Li, Mingge Ding, Zhongbo Liu, Xing Zhang, Jiankang Liu, Xuan Zou, Zhihui Feng   +17 more
wiley   +1 more source

Runs of Homozygosity Predict Inbreeding Depression Across Taxa: A Systematic Review and Meta-Analysis. [PDF]

Mol Ecol
Clarke JC, Taylor RS, Manseau M.
europepmc   +1 more source

The Deubiquitinase UCHL1 Drives Susceptibility to Atrial Fibrillation by Stabilizing CaMKII‐δ

Advanced Science, EarlyView.
UCHL1 is highly upregulated in mice and patients with AF. UCHL1 directly binds to and removes K48‐linked polyubiquitin chains from CaMKII‐δ at K251 and enhances CaMKII‐δ stability, which activates RyR2, disrupts Ca2+ handling, and promotes AF. These findings establish UCHL1 as a critical regulator of CaMKII‐δ stability and AF‐related Ca2+ handling ...
Hai‐Lian Bi, Yu‐Hui Gu, Kai‐Wen Ren, Xiao‐Hong Yu, Yun‐Long Xia, Xiao‐Lei Yang, Hui‐Hua Li   +6 more
wiley   +1 more source

Initial Genome-Wide Characterization of Turkmen Individuals from the Dashoguz Region, Turkmenistan. [PDF]

Biology (Basel)
Zhaniyazov Z, Kulatayeva A, Mustafayeva A, Anapiyayev B, Iskakova K, Bissenov U, Kassymbekova A, Djansugurova L.   +7 more
europepmc   +1 more source

A Scalable Droplet Microfluidic Platform That Overcomes Large‐Cell Constraints for Long‐Term Plant Cell Culture and Embryogenesis Analysis

Advanced Science, EarlyView.
This work presents a large‐cell‐compatible droplet microfluidic platform that overcomes long‐standing barriers in plant cell culture by enabling high‐fidelity encapsulation, novel multilayer 3D droplet incubation for scalable long‐term culture, and support for the full developmental progression of large plant cells.
Arman Mirmiran, Fangchi Shao, Gregory Datto, Tathansh Joshi, Elizabeth Chatt, Yashar Bashirzadeh, Dan Stessman, Lai Wei, Kuangwen Hsieh, Hena Guo, Tza‐Huei Wang   +10 more
wiley   +1 more source

Genomic partitioning and functional dissection of inbreeding depression for stature in Brown Swiss cattle. [PDF]

Genet Sel Evol
He Q, Deuber J, Seefried FR, Pausch H, Kadri NK.   +4 more
europepmc   +1 more source

Transfer RNA‐Derived Small RNA‐5’tiRNAGln Drives HNRNPC Phase Separation to Promote Breast Cancer Bone Metastasis by Regulating IGF1R

Advanced Science, EarlyView.
This study reveals that 5'tiRNA‐Gln interacts with hnRNPC to promote IGF1R liquid‐liquid phase separation, which drives ERK1/2 signaling activation, EMT, and breast cancer bone metastasis. These findings highlight a novel mechanism of breast cancer bone metastasis and potential therapeutic target in metastatic breast cancer.
Bingnan Wang, Dongsong Liu, Xiaozhi Fan, Jiale Fan, Xuesi liu, Yu Wang, Zixin Wang, Mo Cheng, Ping Zhou, Wangjun Yan   +9 more
wiley   +1 more source