Cytogenetics in the genomics era: why karyotyping still matters [0.03%]
基因组学时代细胞遗传学仍重要的原因：为何进行染色体检查仍然关键
Alain Chebly
Alain Chebly
Despite advances in next-generation sequencing and optical genome mapping, conventional cytogenetics, particularly karyotyping, remain indispensable in modern medical genomics. It continues to provide critical diagnostic value in constituti...
Seminal long non-coding RNAs as prognostic non-invasive biomarkers in non-obstructive azoospermia [0.03%]
无梗阻性无精子症中具有里程碑意义的长链非编码RNA作为预后无创生物标志物
Hoda Y Abdallah,Nora Hosny,Nada Ahmed et al.
Hoda Y Abdallah et al.
CDK9 Inhibition with enitociclib reveals influence on HERV and LINE RNA abundances in whole blood, T-, and B-Cell lines [0.03%]
CDK9抑制剂enitociclib对全血和T/B细胞系中HERV和LINE RNA丰度的影响
Nicholas Dopkins,Stephanie Michael,Nicholas Liotta et al.
Nicholas Dopkins et al.
Endogenous retroelements (EREs) comprise a significant portion of the human genome and there is a growing appreciation for their roles in eukaryotic physiology. In lymphomas, EREs may contribute to proto-oncogene expression and their RNA ex...
Identification and validation of PANoptosis-related genes in ankylosing spondylitis [0.03%]
强直性脊柱炎中PANoptosis相关基因的鉴定与验证
Zhitao Shan,Jiaxin Li,Xiaoyu Mu et al.
Zhitao Shan et al.
Ankylosing spondylitis (AS) is a common immune inflammatory disease. PANoptosis, as a novel programmed cell death pathway, its mechanism of action in ankylosing spondylitis remains unclear. Therefore, this study aims to clarify the role of ...
Identification of differentially expressed genes associated with tracheal injury recovery in a rabbit model of septic shock [0.03%]
建立兔脓毒症休克模型鉴定与气管损伤修复相关的差异表达基因
Pei Zhang,Huaihai Lu,Xuze Li et al.
Pei Zhang et al.
Background: Sepsis is a syndrome caused by the host's inflammatory response to an infection with an unknown mechanism. This study aimed to identify differentially expressed genes (DEGs) potentially involved in the develop...
Defining an approach to empower clinical geneticists to do genomic reanalysis [0.03%]
赋能临床遗传学家进行基因组重新分析的方法论定义
Michael M Segal,Meriel McEntagart,Alexander T Deng et al.
Michael M Segal et al.
Background: Sequencing reanalysis can benefit from the inclusion of new information about the patient and from the literature. We studied approaches needed to make reanalysis part of routine follow-up by clinical genetici...
Association between PNPLA3 rs738409 and susceptibility to etiology-specific liver cirrhosis: a systematic review and meta-analysis [0.03%]
PNPLA3 rs738409基因多态性与不同病因肝硬化的易感性关联的系统评价和meta分析
Sirong Yang,Anqi Cheng
Sirong Yang
Background and aim: PNPLA3 rs738409 reduces the triglyceride hydrolase activity. This systematic review and meta-analysis aimed to assess the association between PNPLA3 rs738409 polymorphism and the risk of liver cirrhosi...
Overexpression of cancer testis antigens in gastric cancer and their correlations with the patients' clinicopathological characteristics [0.03%]
胃癌中癌症睾丸抗原的高表达及其与患者临床病理特征的相关性研究
Maliheh Alimardani,Hossein Rahimi,Ali Ghasemi et al.
Maliheh Alimardani et al.
Exploring the genetic landscape of COVID-19 susceptibility and severity among patients in Türkiye [0.03%]
探索土耳其COVID-19患者易感性和严重程度的遗传景观
Ahmet Gorkem Er,Yavuzhan Çakır,Berrin Er et al.
Ahmet Gorkem Er et al.
Genetic disorders caused by consanguineous marriage in Radfan districts - Yemen [0.03%]
也门_radfan地区近亲结婚导致的遗传性疾病
Mansour Abdulnabi H Mehdi,Naif Taleb Ali,Radfan Saleh
Mansour Abdulnabi H Mehdi
Background: Consanguineous marriage (≥ second cousins) is prevalent in Yemen (40-50%) and linked to increased genetic disorders. This study assesses its prevalence and health impacts in Radfan districts. ...