Results 121 to 130 of about 3,861,183 (367)

Myoclonic Absence Seizures and Chromosome Anomalies

Pediatric Neurology Briefs, 1998
The relation between myoclonic absence-like seizures (MAS) and underlying chromosome disorders was evaluated in 14 patients at three centers in Italy.
J Gordon Millichap
doaj   +1 more source

A Prion‐Like Domain in EBV EBNA1 Promotes Phase Separation and Enables SRRM1 Splicing

Advanced Science, EarlyView.
This study discoveries that EBV EBNA1 behaves as a prion‐like protein, verified using cell‐based assays and the Saccharomyces cerevisiae Sup35p prion identification system. The prion‐like domain of EBNA1 drives liquid–liquid phase separation. EBNA1 interacts with the splicing factor SRSF1 to regulate the expression of the SRRM1 splicing isoforms ...
Xiaoyue Zhang, Zhengshuo Li, Run Zheng, Xiang Zheng, Jia Wang, Can Liu, Yangge Wu, Yuqing Wen, Chunlin Ou, Songqing Fan, Chenxiao Xu, Junrui Tian, Qun Yan, Hao Nan, Xiaodong Xu, Hui Wang, Qiu Peng, Jian Ma   +17 more
wiley   +1 more source

The Challenges of Chromosome Y Analysis and the Implications for Chronic Kidney Disease

Frontiers in Genetics, 2019
The role of chromosome Y in chronic kidney disease (CKD) remains unknown, as chromosome Y is typically excluded from genetic analysis in CKD. The complex, sex-specific presentation of CKD could be influenced by chromosome Y genetic variation, but there ...
Kerry Anderson, Marisa Cañadas-Garre, Robyn Chambers, Alexander Peter Maxwell, Alexander Peter Maxwell, Amy Jayne McKnight   +5 more
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Single‐Cell Transcriptome Analysis Reveals That Hmga2 Regulates Neuroinflammation and Retinal Function by Modulating Müller Cell Autophagy Through PI3K/AKT Signaling Following MCAO‐Induced Retinal Ischemia

Advanced Science, EarlyView.
Employing snRNA‐seq post‐MCAO‐induced retinal ischemia (RI), this study revealed a novel Hmga2‐high Müller cell subpopulation. Hmga2 knockout alleviated neuroinflammation and RI symptoms, potentially by binding PI3K and regulating Müller cell autophagy.
Weihao Lv, Juzheng Yuan, Zhe Ruan, Ya‐nan Dou, Hongchen Zhang, Xiaowei Fei, Leiying Chen, Zehan Zhang, Kai Yang, Xiuquan Wu, Zhou Fei, Fei Fei   +11 more
wiley   +1 more source

PHELAN–MCDERMID SYNDROM (del 22q13 AND r(22)): LITERATURE REVIEW AND 2 CASE REPORTS

Русский журнал детской неврологии, 2017
Phelan–McDermid syndrome (PMS) is a microdeletion syndrome associated with the loss of terminal segments in chromosome 22, sometimes with development of the ring chromosome 22. Clinical manifestations of PMS include epilepsy and mental disorders (autism,
M. Yu. Bobylova, M. A. Nikitina, K. Yu. Mukhin, A. V. Kulikov   +3 more
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FOXQ1 Regulates Brain Endothelial Mitochondrial Function by Orchestrating Calcium Signaling and Cristae Morphology

Advanced Science, EarlyView.
FOXQ1 emerges as a master transcriptional regulator of brain endothelial metabolism, orchestrating mitochondrial function through dual control of calcium signaling and cristae organization. This study reveals that brain endothelial cells rely on oxidative phosphorylation rather than glycolysis alone, challenging the current metabolic paradigm and ...
Wenzheng Zou, Yuqing Lv, Lin Li, Shukui Zhang, Jiaqi Liang, Chengchao Wu, Enyu Huang, Jianwei Jiao, Jingjing Zhang   +8 more
wiley   +1 more source

SENP6 Maintains Mitochondrial Homeostasis by Regulating Mitochondrial Protein Import Through deSUMOylation of TOM40

Advanced Science, EarlyView.
SUMOylation regulates mitochondrial processes, but its impact on protein import remains unclear. TOM40 is identified, a mitochondrial outer membrane channel protein, as a substrate of deSUMOylase SENP6. TOM40 SUMOylation disrupts outer membrane complex assembly, inhibits protein import, and compromises mitochondrial homeostasis.
Liubing Hu, Jianshuang Li, Haolin Guo, Lei Su, Peina Dong, Juan Huang, Yanyan Liu, Xinjie Liu, Zhenhuan Luo, Wei Xiong, Zhenyu Ju, Qinghua Zhou, Hao Wang, Wenjun Wang   +13 more
wiley   +1 more source

Chromosome analysis in two unusual malignant blood disorders presumably induced by benzene [PDF]

, 1979
Herman Van den Berghe, A. Louwagie, A. Broeckaert-Van Orshoven, Gregory David, R. L. Verwilghen   +4 more
openalex   +1 more source

GSK461364 Inhibits NLRP3 Inflammasome by Targeting NEK7 Phosphorylation

Advanced Science, EarlyView.
Schematic diagram of the mechanism by which GSK461364 inhibits NLRP3 inflammasome activation. GSK461364 inhibits the phosphorylation of NEK7 likely at serine 221 and serine 260 by suppressing the activity of PLK1, thereby restraining the formation of the NLRP3 inflammasome.
Ruiheng Luo, Mingliang Ma, Dan Wang, Ling Luo, Xueming Xu, Lingmin Huang, Fupeng Wang, Guangyan Kuang, Huiqi Liu, Rui Ni, Xin Li, Qinghua Zhang, Shengfeng Wang, Kai Zhao   +13 more
wiley   +1 more source

Most Common Genetic Abnormality and Molecular Mutations on Human Sperm Y Chromosome and their Effects on Male Infertility

Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2014
BACKGROUND AND OBJECTIVE:Chromosomal or mitochondrial DNA abnormalities are the main causes of male infertility. So far, a lot of genes are identified on X and Y chromosomes that control the spermatogenesis process in a special order.
Eisa Tahmasbpour-Marzooni, seyed gholamali Jorsaraei   +1 more
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