Results 71 to 80 of about 54,834 (268)

Performance of Chromosomal Microarray Analysis for Detection of Copy Number Variations in Fetal Echogenic Bowel

Risk Management and Healthcare Policy, 2021
Xiangqun Fan,1,* Hailong Huang,1,* Xiyao Lin,2 Huili Xue,1 Meiying Cai,1 Na Lin,1 Liangpu Xu1 1Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect ...
Fan X, Huang H, Lin X, Xue H, Cai M, Lin N, Xu L   +6 more
doaj  

LOXHD1 and RHOB Expression by Monocytes Predicts Progressive Systemic Sclerosis associated Interstitial Lung Disease

Arthritis Care &Research, Accepted Article.
Objective A leading cause of death among scleroderma (SSc) patients, interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M Padilla, Robert Lafyatis, Kevin F Gibson, Christina Morse, Eleanor Valenzi, Xiaoping Chen, Xiaoyun Li, Yanwu Zhao, Yongseok Park, Dana Ascherman, Jonathan Minden, Robyn Domsic, Yingze Zhang, Daniel J Kass   +13 more
wiley   +1 more source

Decoding Dental Stem Cell Aging: Mechanisms, Therapeutic Strategies, and Beyond

Advanced Science, EarlyView.
Dental stem cell (DSC) aging involves genomic instability, mitochondrial dysfunction, telomere attrition, and epigenetic alterations, leading to impaired proliferation, reduced differentiation potential, and pro‐inflammatory secretory activity. These processes drive cellular senescence and compromise regenerative and immunomodulatory functions, thereby
Xinyuan Zhao, Yunfan Lin, Pei Lin, Ye Lu, Jiarong Zheng, Xu Chen, Zihao Zhou, Li Cui   +7 more
wiley   +1 more source

6q25.1-q25.3 Microdeletion in a Chinese Girl

JCRPE, 2021
Deletions of the long arm of chromosome 6 are rare and are characterized by great clinical variability according to the deletion breakpoint. Herein, we reported a 3-year-old girl evaluated for facial dysmorphism (long and connected eyebrows, big mouth ...
Mian-Ling Zhong, Ye-Mei Song, Chao-Chun Zou   +2 more
doaj   +1 more source

Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy

Advanced Science, EarlyView.
MED27 is one of the 26 subunits in the human Mediator complex (MED). Neurodevelopmental disorder‐causing MED27 genetic variants induce instability of MED, leading to disrupted DNA occupancy, altered chromatin interaction, and subsequent transcriptional dysregulation of critical downstream genes, including master regulatory transcription factors ...
Nuermila Yiliyaer, Xiaocheng Li, Tianyu Guo, Haiying Zhou, Lihai Gong, Luowei Yuan, Yang Fu, Yulong Qiao, Ying Lam Lui, Nuo Chen, Pengfei Lin, Hoi Hung Cheung, Ho Ko, Linyan Meng, Xiao Chen, Yong Lei, Kin Ming Kwan, Huating Wang, Shen Gu   +18 more
wiley   +1 more source

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. [PDF]

PLoS ONE, 2007
BACKGROUND: Array Comparative Genomic Hybridization (a-CGH) is a powerful molecular cytogenetic tool to detect genomic imbalances and study disease mechanism and pathogenesis.
Xinyan Lu, Chad A Shaw, Ankita Patel, Jiangzhen Li, M Lance Cooper, William R Wells, Cathy M Sullivan, Trilochan Sahoo, Svetlana A Yatsenko, Carlos A Bacino, Pawel Stankiewicz, Zhishu Ou, A Craig Chinault, Arthur L Beaudet, James R Lupski, Sau W Cheung, Patricia A Ward   +16 more
doaj   +1 more source

LPS‐Induced Mitochondrial Damage via SLC41A1‐Mediated Magnesium Ion Efflux Leads to the Pyroptosis of Dental Stem Cells

Advanced Science, EarlyView.
Lipopolysaccharide induces upregulation of the magnesium (Mg2+) efflux transporter solute carrier family 41 member 1 in dental stem cells, leading to a decrease in intracellular Mg2+ concentration and promoting the binding of oligomycin sensitivity‐conferring protein and cyclophilinD.
Yuan Liu, Chenyu Song, Liyuan Zhang, Xue Han, Chaoyuan Li, Yanhong Yan, Ludan Xing, Mengting Si, Bo Yang, Lingyuan Cheng, Akimi Muramatsu, Beizhan Jiang   +11 more
wiley   +1 more source

Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China

Molecular Cytogenetics, 2019
Background Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chromosome 15q11.2-q13.3 region.
Chang Liu, Xiangzhong Zhang, Jicheng Wang, Yan Zhang, Anshi Wang, Jian Lu, Yanlin Huang, Shu Liu, Jing Wu, Li Du, Jie Yang, Hongke Ding, Ling Liu, Xin Zhao, Aihua Yin   +14 more
doaj   +1 more source

Chromosomal Microarray Analysis of Fetuses with Nasal Bone Anomaly [PDF]

, 2020
Abstract Objective: To explore the significance and value of fetal nasal bone anomaly (absence or hypoplasia) as indications of prenatal diagnosis.Methods: A total of 102 fetuses diagnosed with nasal bone absence or hypoplasia by ultrasonography underwent chorionic, amniotic, or umbilical cord blood puncture.
Xiaorui Xie, Xiaoqing Wu, Linjuan Su, Meiying Cai, Ying Li, Hailong Huang, Liangpu Xu   +6 more
openaire   +2 more sources

APOL2 Stabilizes Ku80 to Confer NHEJ‐Mediated Radioresistance in Gastric Cancer

Advanced Science, EarlyView.
Radiotherapy resistance in gastric cancer (GC) is often mediated by enhanced DNA repair. APOL2 is found to promote NHEJ by stabilizing Ku80, conferring radioresistance. High APOL2 correlates with poor prognosis. Formononetin disrupts APOL2‐Ku80, restoring radiosensitivity, suggesting a novel therapeutic strategy.
Dan Zu, Qimei Bao, Hanyi He, Yuke Zhong, Mingcong Deng, Yangchan Hu, Chunkai Zhang, Chen Liang, Yixing Huang, Haidong Liu, Xiao Li, Yanhua He, Guoyan Luo, Weixin Wu, Fenghui Guan, Shengfeng Xu, Min Liu, Albino Bacolla, Ji Jing, Yian Du, John A. Tainer, Yin Shi, Zu Ye, Xiangdong Cheng   +23 more
wiley   +1 more source