The Expression Profile of microRNA Genes and NT-proBNP as Possible Predictors of One-Year Mortality in Egyptian Adults with Acute Heart Failure: A Prospective Biomarker Study [0.03%]
微型RNAs基因的表达特征及NT-proBNP作为预测埃及急性心力衰竭成人患者1年期死亡率的潜在标志物：一项生物标志物研究
Haidy Magdy,Radwa M Abdel Halim,May M Selim et al.
Haidy Magdy et al.
Background: Acute heart failure (AHF) is a prevalent and life-threatening condition that is associated with high morbidity and mortality, particularly in adults. MicroRNAs (miRNAs) have been identified as potential biomar...
A Short Indel is Causing Biotinidase Deficiency in a 4-Month-Old Boy from Jammu and Kashmir [0.03%]
一名4个月大男孩出现生物素酶缺乏症是由一个短的插入缺失引起的可能性较大
Rama Sharma,Anuj Bhatti,Darshpreet Singh et al.
Rama Sharma et al.
Background: Biotinidase is an enzyme recycling endogenous biotin by hydrolyzing ε-N-biotinyl lysine (biocytin) to lysine and biotin. Biotin acts as a coenzyme in various carboxylation reactions. Biotinidase deficiency is...
Association of Serum IL-17A Levels and IL-17/IL-17R Gene Variants with Community-Acquired Pneumonia in Iranian Children [0.03%]
伊朗儿童社区获得性肺炎与血清IL-17A水平及IL-17/IL-17受体基因多态性的相关性研究
Leila Sharifie,Maede Jafari,Saeedeh Parvaresh et al.
Leila Sharifie et al.
Background: Because the IL-17/IL-17 receptor (IL-17R) axis is involved in lung inflammation and genetic variants, such as single nucleotide polymorphisms (SNPs), can affect its function, this study examined the associatio...
Association Between Glutathione S-Transferase (GST) Gene Polymorphisms and Coronary Artery Disease: A Case-Control Study in Bangladesh [0.03%]
谷胱甘肽S转移酶(GST)基因多态性与冠心病的关系：孟加拉国的病例对照研究
Sauda Sumaya Dina,Somzida Akter Moni,Faisal Abdullah Emon et al.
Sauda Sumaya Dina et al.
Background: Glutathione-S-transferases (GSTs) play an important role in the detoxification and neutralization of oxidative stress products and xenobiotic compounds. Due to genetic polymorphisms in GST genes, GSTs partiall...
Enhancing Genotype-Phenotype Correlation in Pediatric PKU: A Comparative Analysis of Hotspot Mutations and Prediction Models Across 12 Chinese Regions [0.03%]
中国12个地区苯酮尿症热点突变及预测模型的比较分析——增强儿童PKU基因型表型相关性研究
Li Zhang,Jie Ren,Jilong Su et al.
Li Zhang et al.
Objective: Phenylketonuria (PKU) is a genetic metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, with an incidence rate in China of approximately 1 in 11,000. PKU exhibits high heterogenei...
Genetic Diversity of the ACE2 Gene and Susceptibility to COVID-19 in Morocco Population [0.03%]
ACE2基因遗传多样性与摩洛哥人群COVID-19易感性关系的初步研究
Nourdin Harich,Hamid Farhane,Soufiane Karchali et al.
Nourdin Harich et al.
Background: The COVID-19 was the most amazing pandemic of the early third millennium, with significant variability in infection rates across regions worldwide. Genetic factors, particularly the ACE2 gene, coding for a com...
Expanding the Phenotypic Spectrum of Trafficking Protein Particle Complex Subunit 9-Related Intellectual Developmental Disorder: Prader-Willi-like Presentation in a Tunisian Family [0.03%]
扩展 trafficking 蛋白颗粒复合体9相关智力发育障碍表型谱系：突尼斯一家系中的普拉德-威利样表现
Maha Ben Jemaa,Haifa El Mabrouk,Mona Mahfood et al.
Maha Ben Jemaa et al.
Background: Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome (IDOB-FMD) is a rare genetic disorder characterized by moderate to severe intellectual disability, microcephaly, and brain abnorm...
Estimates of European Ancestry in U.S. Hispanics Using HFE p.C282Y (c.845G>A; rs1800562), a Highly Informative Autosomal Marker [0.03%]
基于血红素氧合酶基因C282Y突变标记估计美国西班牙裔白人血统比例
James C Barton,J Clayborn Barton,Ronald T Acton
James C Barton
Background: We estimated European ancestry in U.S. Hispanics using HFE p.C282Y (c.845G > A; rs1800562), a highly informative autosomal marker of European ancestry. ...
ICF Syndrome in Chinese Children: Four Case Reports with Novel Mutations [0.03%]
中国儿童ICF综合征4例报告及新型突变研究
Yan Lei,Yanchun Wang,Xiaoning Liu et al.
Yan Lei et al.
Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome is a rare autosomal recessive disorder characterized by immunodeficiency, centromeric instability, and facial dysmorphism. We report four Chinese pediatric patients ...
Identification of Key Genes and Clinical Feature Analyses of Epidermal Growth Factor Receptor Mutations in Lung Adenocarcinoma [0.03%]
肺癌腺癌表皮生长因子受体突变的关键基因鉴定及临床特征分析
Dilimureti Niyaze,Alai Shalitana,Jun Guo et al.
Dilimureti Niyaze et al.
Background: Lung adenocarcinoma (LUAD) is a prevalent and aggressive form of lung cancer, characterized by late-stage diagnosis, high metastatic potential, and recurrence. Epidermal growth factor receptor (EGFR) mutations...