Prevalence and impact of molecular variation in the three-prime repair exonuclease 1 TREX1 and its implications for oncology [0.03%]
TREX1核酸内切酶分子多态性的分布及对肿瘤学的影响研究
Marwa Shekfeh,Mariam M Konaté,Julia Krushkal
Marwa Shekfeh
Background: The three-prime repair exonuclease 1, TREX1, degrades cytosolic DNA to prevent aberrant immune activation. Its inactivation results in DNA accumulation in the cytosol and induction of the cGAS-STING DNA sensin...
Pharmacists' perspectives on integrating pharmacogenetics in clinical practice [0.03%]
药师在临床实践中整合药物基因组学的视角
Najmaddin A H Hatem,Wafa Badullah,Seena A Yousuf et al.
Najmaddin A H Hatem et al.
Introduction: The successful implementation of pharmacogenetics (PGx) in many developed countries has significantly enhanced personalized care and improved both clinical and financial outcomes. This study was designed to ...
Angeliki I Katsafadou,Daniel W Nebert,Sergey A Krupenko et al.
Angeliki I Katsafadou et al.
The human sideroflexin (SFXN) gene family, also classified as solute carrier family 56 (SLC56), encodes a group of five mitochondrial transmembrane proteins (SFXN1-SFXN5) involved in key aspects of mitochondrial metabolism, cellular homeost...
Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools [0.03%]
趋向于简化变异分类：注释工具对ClinVar致病性变异的命名和语法分歧
Yu-An Chen,Tzu-Hang Yuan,Jia-Hsin Huang et al.
Yu-An Chen et al.
Background: High-throughput sequencing has revolutionized genetic disorder diagnosis, but variant pathogenicity interpretation is still challenging. Even though the human genome variation society (HGVS) provides recommend...
CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes [0.03%]
CHEK1变异通过误调节代谢和炎症相关基因成为早发性卵巢功能不全的危险因素
Jianying Guo,Yali Fan,Zifan Song et al.
Jianying Guo et al.
Background: Premature ovarian insufficiency (POI) is affecting approximately 1% of females and increasingly contributing to female infertility. The etiology of POI is heterogeneous. CHEK1, a critical component of the DNA ...
Outcomes of genetic testing for Usher syndrome in a diverse population cohort from South Florida [0.03%]
南佛罗里达州人口队列中Usher综合征基因检测的结果
Zachary J Cromar,Ryan Chen,Tamara Juvier Riesgo et al.
Zachary J Cromar et al.
Background: Usher syndrome (USH) is the leading genetic cause of congenital deaf blindness worldwide. USH is an autosomal recessive disorder clinically characterized by partial or complete congenital sensorineural hearing...
Correlation between clinical classification and genetic analysis of familial hypercholesterolemia in premature coronary artery disease in a cohort of Egyptian patients [0.03%]
埃及患者早发冠心病与家族性高胆固醇血症临床分类及基因分析的相关性研究
Rania A Zahwo,Ziad N Rezk,Tamer M Elwasify et al.
Rania A Zahwo et al.
Background: Familial Hypercholesterolemia (FH) is a major risk factor for premature Coronary Artery Disease (CAD). Genetic testing is the gold standard for FH diagnosis. The purpose of this Observational Analytical Cross-...
Improved breast cancer risk prediction using chromosomal-scale length variation [0.03%]
利用染色体尺度长度变异改进乳腺癌风险预测
Yasaman Fatapour,James P Brody
Yasaman Fatapour
Introduction: Early diagnosis of breast cancer leads to higher long-term survival rates. The development of a germline genetic test, or polygenic risk score, to identify women at high risk of breast cancer holds the poten...
Parents' perspectives on expanded newborn genomic screening in Abu Dhabi, United Arab Emirates [0.03%]
阿联酋阿布扎比扩大新生儿基因组筛查的父母视角研究
Yasir Ahmed Mohammed Elhadi,Marwa Alkatheeri,Maryam Alktifan et al.
Yasir Ahmed Mohammed Elhadi et al.
Background: Newborn genomic screening offers the potential for early detection and management of genetic disorders. Understanding parental perspectives is essential before integrating genomic testing into standard newborn...
Human Genomics Brief Reports: embracing concise dissemination for rapid and impactful discoveries [0.03%]
人类基因组简报报告：以简洁的方式进行快速而有影响力的传播和发表
Vasilis Vasiliou,Juergen K V Reichardt,Bassam R Ali
Vasilis Vasiliou