Results 141 to 150 of about 409,247 (302)

CHROMOSOME ABNORMALITIES IN TOXOPLASMOSIS

The Lancet, 1976
Milet, RenéG., Abt, Werner, Gallegos, Daniel   +2 more
openaire   +3 more sources

Fzd7 Restrains Pink1‐Dependent Mitophagy in Suture Stem Cells to Maintain Cranial Suture Patency

Advanced Science, EarlyView.
How suture stem cells fail to preserve cranial suture patency remains incompletely understood. Integrated single‐cell and high‐resolution spatial transcriptomic analyses identify reduced Fzd7 expression in Prrx1+ suture stem cells as an early feature of craniosynostosis.
Xinyan Chen, Zong Chen, Chenzhi Lai, Yingying Yue, Tian He, Hao Gong, Jing Shi, Xiaoshuang Guo, Yu Wang, Guodong Song, Xiaolei Jin   +10 more
wiley   +1 more source

Phase Separation of TRIM21 Modulates PTPN14 Stability to Drive Flow‐Dependent Endothelial Activation and Atherogenesis

Advanced Science, EarlyView.
Disturbed flow promotes the formation of TRIM21‐rich biomolecular droplets, which concentrate TRIM21 and PTPN14 and facilitate their SPRY‐FERM interaction (illustrated by the TRIM21 D355‐PTPN14 R132 salt bridge). This condensate‐driven proximity enables TRIM21 to catalyze K48‐linked polyubiquitination of PTPN14 at lysine 956, leading to proteasome ...
Xue He, Qiannan Ma, Xue Wang, Jiaxu Mang, Chufeng Li, Bingjun Wu, Liu Yao, Yequn Chen, Qiankun Bao, Yi Zhu, Jinlong He   +10 more
wiley   +1 more source

Loss of CYLD on Chromosome 16q Impairs Homologous Recombination and Genomic Stability Through TIRR Degradation

Advanced Science, EarlyView.
Chromosome 16q loss drives genomic instability through disruption of the CYLD–TIRR–53BP1 axis. CYLD preserves homologous recombination by stabilizing TIRR and limiting 53BP1 accumulation at DNA double‐strand breaks. CYLD deficiency redirects repair toward error‐prone non‐homologous end joining, promotes mutational burden and homologous recombination ...
Mingming Lu, Jialu Kang, Qi Ye, Zixi Wang, Lei Li, Yuzeshi Lei, Leihong Ye, Tianjie Liu, Bin Wang, Tao Liu, Shan Xu, Ke Wang, Yong Zhang, Jian Ma, Lei Li   +14 more
wiley   +1 more source

Molecular Genetic Characterization of Acute Myeloid Leukemia With Trisomy 4 as the Sole Chromosome Abnormality. [PDF]

Cancer Genomics Proteomics, 2019
Torkildsen S, Gorunova L, Heim S, Tjønnfjord GE, Spetalen S, Risberg B, Tran HTT, Panagopoulos I.   +7 more
europepmc   +1 more source

NICE: A Two‐Step Non‐Invasive Framework for Embryo cfDNA Read Enrichment and Quality Assessment

Advanced Science, EarlyView.
The non‐invasive NICE framework, built on an ensemble stacking machine learning model, prioritizes embryos by analyzing cell‐free DNA from spent culture medium. By integrating multimodal signals, including genomic and epigenetic profiles, this automated approach standardizes morphological assessment without human bias, paving the way for more precise ...
Xueya Zhou, Shu Ding, Zhenyi Zhang, Qiaoling Shangguan, Jie Qiao, Peijie Zhou, Yidong Chen   +6 more
wiley   +1 more source

Cytogenetic and molecular delineation of a region of chromosome 3q commonly gained in marginal zone B-cell lymphoma

Haematologica, 2003
BACKGROUND AND OBJECTIVES: Whole or partial trisomy 3 represents the most recurrent chromosomal abnormality occurring in marginal zone B-cell lymphoma (MZBCL), a distinct subtype of B-cell non-Hodgkin's lymphoma (NHL).
S Gazzo, L Baseggio, L Coignet, C Poncet, D Morel, B Coiffier, P Felman, F Berger, G Salles, E Callet-Bauchu   +9 more
doaj  

Phase Separation, Material State, and Condensate Fate in Mammalian Autophagy

Advanced Science, EarlyView.
ABSTRACT Biomolecular phase separation has emerged as a key organizing principle in macroautophagy (hereafter autophagy). In mammalian cells, phase‐separated condensates not only serve as substrates for selective degradation, but also act as dynamic platforms for cargo recognition, signaling integration, and autophagosome assembly.
Yuanqiang Lin, Mingran Dai, Enyong Dai, Rui Kang, Daniel J. Klionsky, Daolin Tang, Yu Sun, Ningning Lv, Junnan Jiang   +8 more
wiley   +1 more source

ABNORMALITAS KROMOSOM YPADA PENDERITA AMBIGUS GENITALIA Y CHROMOSOME ABNORMALITY IN PATIENTS WITH AMBIGUOUS GENITALIA [PDF]

, 2008
Background. Ambiguous genitalia is an abnormality signing by the presence of atypical appearance of external genitalia as male or female, or appear as combination of both male and female appearance.
Wasilah , Siti
core  

KLF5 Downregulation Links Impaired BNIP3‐Mediated Mitophagy to Inflammatory Valve Remodeling in Calcific Aortic Valve Disease

Advanced Science, EarlyView.
In human CAVD, KLF5 is reduced in VIC‐rich regions and remodeling/stress‐associated VIC states. In VICs, KLF5 sustains BNIP3 promoter activity and BNIP3‐mediated mitophagy, thereby limiting cytosolic mtDNA accumulation. KLF5 loss weakens mitochondrial quality control and enhances mtDNA‐sensitive STING/NF‐κB/NLRP3 inflammatory signaling under osteogenic
Jin‐Hui Bian, Jia‐Xi Gu, Zhang Yue, Chun‐Ze Yuan, Hai‐Bin Ji, Ao Li, Yu Zhong, Xiu‐Fan Xu, Yu‐Qiu He, Ye‐Fan Jiang, Hong‐Shan Chen, Xiang Chen, Meng‐Lin Chao, Yong‐Feng Shao   +13 more
wiley   +1 more source