Results 101 to 110 of about 453,665 (301)

Interstitial Deletions of the Short Arm of Chromosome 4 in a Patient With Mental Retardation and Focal Seizure

Pediatrics and Neonatology, 2011
Interstitial deletion of the proximal short arm of chromosome 4 has rarely been described. This defect is associated with variable clinical manifestations, including mental retardation, unusual facial appearance, and minor limb abnormalities. We describe
Pen-Hua Su, Inn-Chi Lee, Jia-Yuh Chen, Suh-Jen Chen, Ju-Shan Yu, Teng-Fu Tsao   +5 more
doaj   +1 more source

Generation of sex-reversed female clonal mice via CRISPR/Cas9-mediated Y chromosome deletion in male embryonic stem cells. [PDF]

Methods Cell Biol, 2022
Qin Y, Geng F, Wen D.
europepmc   +1 more source

Gαi1/3 Is a Novel Regulatory Target for RANKL Signal Transduction and Osteoporosis

Advanced Science, EarlyView.
ABSTRACT Osteoporosis, characterized by progressive bone loss and increased fracture risk, is a growing concern as the population ages. Current treatments, though advanced, remain limited, underscoring the necessity for novel therapeutic targets. Recent studies have shown that the immune system plays a key role in osteoporosis, with osteoclasts driving
Chaowen Bai, Mingchao Zhang, Le Liu, Lide Tao, Chenyang Xu, Hao Chai, Xin Shi, Yin Wang, Xiaopei Zhang, Qiong Chen, Dong Liu, Jinyu Bai, Chang She, Xiaozhong Zhou, Cong Cao, Huajian Shan   +15 more
wiley   +1 more source

Metabolomic and lipidomic characterization of an X-chromosome deletion disorder in neural progenitor cells by UHPLC-HRMS. [PDF]

J Mass Spectrom Adv Clin Lab, 2021
Yazd HS, Rubio VY, Chamberlain CA, Yost RA, Garrett TJ.   +4 more
europepmc   +1 more source

Extracellular Vesicles of Streptococcus anginosus Mediate Gastritis via Epithelial Barrier Disruption and Macrophage‐driven Inflammation

Advanced Science, EarlyView.
Streptococcus anginosus extracellular vesicles (SA‐EVs) accumulate in gastric tissue, disrupt epithelial tight junctions, and induce gastritis characterized by neutrophil infiltration and elevated cytokines (TNF‐α, IL‐6, IL‐17A). Proteomics identifies TMPC and FBP62 as key SA‐EVs virulence factors; their genetic deletion attenuates inflammation ...
Ying Gong, Lina Duan, Jie Xiao, Yulu Deng, Hongxia Wang, Yajie Zhang, Xiumei Hu, Haifang Wang, Taixue An, Xin Li, Yurong Qiu, Lei Zheng, Haixia Li   +12 more
wiley   +1 more source

Generation of Sex-Reversed Female Clonal Mice via CRISPR-Cas9-Mediated Y Chromosome Deletion in Male Embryonic Stem Cells. [PDF]

CRISPR J, 2021
Qin Y, Wong B, Zhong L, Geng F, Parada LF, Wen D.   +5 more
europepmc   +1 more source

Fibrates Inhibit PLTP‐induced M2 Macrophage Infiltration and Increase the Sensitivity of Hepatocellular Carcinoma to ICIs

Advanced Science, EarlyView.
Phospholipid transfer protein(PLTP) plays a critical role in forming a complex with kinase A (AURKA) and P65. This interaction facilitates phosphorylation of P65 at Ser536, leading to the activation of the NF‐κB signaling pathway. Ultimately, this leads to the upregulation of downstream cytokines, including IL‐6, IL‐8, and CSF‐1, which promotes M2 ...
Xinyue Liang, Yaning Li, Jianxun Cai, Lisi Luo, Pengfei Yang, Yutong Chen, Jiancong Zhou, Yan Zeng, Jiaping Yu, Weiyu Zhang, Wenzheng Pang, Yufang Li, Chunhua Wen, Jian Li, Linjuan Zeng   +14 more
wiley   +1 more source

DIFFICULTIES AND TREATMENT OUTCOMES OF ORTHODONTIC THERAPY OF A PATIENT WITH WILLIAMS SYNDROME

Selcuk Dental Journal, 2018
Williams Syndrome (WS) is a rare congenital and progressive multisystem disorder which is described with specific systemic disorders, skeletal and dental abnormalities and tongue thrusting.
Elif Dilara Şeker, Türker Yücesoy, Ahmet Yağcı   +2 more
doaj   +1 more source

Characterization of a rare analphoid supernumerary marker chromosome in mosaic [PDF]

, 2015
publicado em: Chromosome Research. 2015;23(Suppl 1):67-8. doi:10.1007/s10577-015-9476-6Analphoid supernumerary marker chromosomes (SMCs) are a rare subclass of SMCs C-band-negative and devoid of alpha-satellite DNA.
Alves, C., Amorim, M., Brito, F., Correia, H., Ferreira, C., Marques, B., Pedro, S.   +6 more
core  

Telomere‐to‐Telomere Genomes Reveal that Multiscale Evolution Shapes the Largest Metabolic Arsenal of Diaporthe Fungi

Advanced Science, EarlyView.
This study presents the first telomere‐to‐telomere genomes and population resources for Diaporthe pathogens, uncovering the largest known fungal repertoire of secondary metabolite gene clusters. Structural variations and horizontal gene transfer drive cluster diversification, while specific rapidly evolving clusters control virulence, offering novel ...
Kainan Li, Chen Zhang, Zhichao Zhang, Jiaheng Cheng, Qiuyan Gao, Long Gao, Xiaolin Zhao, Wei Yan, Yuanchao Wang, Wenwu Ye   +9 more
wiley   +1 more source