Genetic insights into hepatocellular carcinoma: the role of VDR FokI (rs2228570) and TaqI (rs731236) polymorphisms in Egyptian patients [0.03%]
遗传学视角下的肝细胞癌：维生素D受体FokI和TaqI基因多态性在埃及患者中的作用
Salma Saleh Alrdahe,Doaa Bahaa Eldin Darwish,Aishah E Albalawi et al.
Salma Saleh Alrdahe et al.
Background: Hepatocellular carcinoma (HCC) is the most dominant form of cancer. Its development is influenced by environmental exposures, lifestyle factors, and genetic predispositions. Beyond its classical function in sk...
Clinically actionable pharmacogenomic variants for anticancer therapy in Nigeria: first comprehensive variant profiling in underrepresented Nigerian cohorts [0.03%]
尼日利亚抗癌治疗的临床行动药理基因组变异：在代表性不足的尼日利亚人群中进行的第一项全面变异特征分析
Michael Pius Ukpe,Anastecia Chinasa Ezeanuka
Michael Pius Ukpe
A novel EVC2 splice-site variant expands the mutational and phenotypic spectrum of Weyers acrofacial dysostosis [0.03%]
EVC2剪切位点变异使Weyer肢面骨发育不全的致病谱系增加
Ai Chen,Wenwen Zhang,Pingping Long et al.
Ai Chen et al.
Genome-wide profiling of salivary promoter-region DNA methylation in periodontitis: the Tromsø study [0.03%]
牙周炎的全基因组范围内唾液启动子区DNA甲基化检测： Tromsø研究
Natalia Petrenya,Birgitta Jönsson,Elin Hadler-Olsen et al.
Natalia Petrenya et al.
Successful experience with high-risk and family screening for Fabry disease in Ninghai County, Zhejiang Province, Eastern China: genotype‒phenotype analysis of the GLA IVS4 + 919G > A variant [0.03%]
中国东部浙江省宁海县Fabry病高危和家族筛查的成功经验：GLA IVS4+919G>A变异型的基因型-表型分析
Zhuhui Ge,Jianhua Mao,Zhangqiao Dai et al.
Zhuhui Ge et al.
Background: Fabry disease is a rare and non-specific disease that is difficult and expensive to diagnose. This study aimed to investigate the clinical phenotypes and genetic characteristics of patients with Fabry disease ...
A novel homozygous ADAMTS10 frameshift variant in Weill-Marchesani syndrome in a Chinese family [0.03%]
遗传性ADAMTS10突变导致的Weill-Marchesani综合征家系研究
Mengyang Li,Rong Bai,Yuanyuan Lian et al.
Mengyang Li et al.
DMBX1 expression in colon cancer and its impact on prognosis and the tumor microenvironment [0.03%]
结肠癌中DMBX1的表达及其对预后和肿瘤微环境的影响
Kaijie Zhang,Xintao Hu,Jichong Chen et al.
Kaijie Zhang et al.
Background: DMBX1 is a transcription factor that plays important roles in various biological processes. However, systematic research on DMBX1 in colon cancer remains limited. This study aimed to investigate the expression...
Cardiovascular-kidney-metabolic syndrome: candidate subtypes and genetic risk factors [0.03%]
心血管-肾脏-代谢综合征：候选亚型和遗传风险因素
Hylke C Donker,Vartika Bisht,Om Prakash Dwivedi et al.
Hylke C Donker et al.
Background: Cardiovascular-kidney-metabolic (CKM) syndrome is increasingly recognized as a distinct disorder with important implications for health outcomes, but its heterogeneity of presentation and genetic underpinning ...
Designing inclusive newborn sequencing research: insights from parents in underrepresented communities [0.03%]
包容性新生儿测序研究的设计：少数族裔社区父母的见解
Maya C Del Rosario,Sheyenne A Walmsley,Barbara W Harrison et al.
Maya C Del Rosario et al.
Background: It is essential that studies of genomic sequencing (GS) in newborns and children include individuals from under-represented racial and ethnic groups (URG) to ensure future applications are equitably implemente...
Elucidating the mechanisms of bisphenols-induced male spermatogenesis disorder via network toxicology, molecular docking and bioinformatics [0.03%]
采用网络毒理学、分子对接和生物信息学方法阐明双酚类化合物致男性生精障碍的机制研究
Minmin Tian,Yang Wu,Mi Tian et al.
Minmin Tian et al.