Chromosome structural variation analysis reveals lung cancer-associated gene regulatory networks in rheumatoid arthritis patients [0.03%]
染色体结构变异分析揭示了类风湿关节炎患者的肺癌相关基因调控网络
Heng Li,Liping Ding,Rui Liao et al.
Heng Li et al.
Background: Chromosomal structural variations (CSVs) that comprise multiple gene mutations are important determinants for multiple diseases. However, the relationship between CSVs, rheumatoid arthritis (RA), and lung canc...
A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis [0.03%]
一种新的双等位基因致病性MCOLN1变异体导致伊朗家族黏脂贮积症IV型：临床、遗传和基于分子动力学的结构分析
Mohaddese Mohsenipour,Parham Nejati,Teymoor Khosravi et al.
Mohaddese Mohsenipour et al.
Background: Mucolipidosis type IV (MLIV) is a rare autosomal recessive lysosomal storage disorder due to biallelic pathogenic variants in the MCOLN1 gene. Its main impact is on the central nervous system, leading to sever...
Expanding the clinical phenotype of DYNC1H1 -associated mutations: a Chinese family with autosomal dominant complex hereditary spastic paraplegia [0.03%]
DYNC1H1相关突变的临床表型扩展-一例中国遗传性痉挛性截瘫家系
Xiaoqin Yuan,Shanshan Zhang,Yufeng Tang
Xiaoqin Yuan
Construction and verification of a prognostic model for prostate cancer based on ribosome biogenesis-related genes [0.03%]
基于核糖体生物发生相关基因的前列腺癌预后模型的构建与验证
JiaWei Xie,YanHong Tang,YuHang Wang et al.
JiaWei Xie et al.
Background: Prostate cancer (PCa) is a prevalent and often aggressive malignancy. While ribosome production is a critical process in numerous cancers, the role of ribosome biogenesis-related genes (RB-RGs) in PCa remains ...
Molecular surveillance of antimalarial drug resistance genes in Nigeria: a systematic review and roadmap to malaria elimination [0.03%]
尼日利亚抗疟药物耐药基因监测的分子 surveillance 和消除疟疾路线图系统审查
Oluwayemi J Bamikole,Ayorinde F Fayehun,Yaaqub A Uthman et al.
Oluwayemi J Bamikole et al.
Background: Malaria remains a significant public health challenge in Nigeria, accounting for a substantial proportion of global malaria cases and deaths. Although artemisinin-based combination therapies (ACTs) are the rec...
Novel LRF/ZBTB7A variants and known HbF-modulating SNPs in transfusion-dependent β-thalassemia [0.03%]
输血依赖性β-地中海贫血患者中LRF/ZBTB7A新突变和已知的HbF调节多态性分析
Yunus Arikan,Tugba Karaman Mercan,Merve Embel et al.
Yunus Arikan et al.
Background: β-Thalassemia is a hereditary blood disorder with a highly variable clinical presentation that is partly influenced by genetic modifiers that regulate fetal hemoglobin levels. Elevated HbF can ameliorate the ...
Novel TRIP12 variants in two Lebanese patients with neurodevelopmental delay [0.03%]
TRIP12新变异与两名黎巴嫩神经发育障碍患者相关性研究
Simone Khalifeh,Nadine J Makhoul,Samah Trad et al.
Simone Khalifeh et al.
Heterogeneity study on MiRNA expression in islet cells of rat pancreatic head and tail [0.03%]
胰腺头部和尾部细胞中miRNA表达的异质性研究
Xuehua Lu,Yunlu Liu,Jinyan Chen et al.
Xuehua Lu et al.
Background: As a vital endocrine organ, the pancreas exhibits differences in anatomical structure and microenvironment between its head and tail. However, whether there is heterogeneity in miRNA expression within the isle...
Biobank participants' perspectives on receiving genetic risk information from a biobank - the case of haemochromatosis [0.03%]
生物样本库供作者对从生物样本库获得遗传风险信息的看法——血色病患者的案例分析
Jonna Clancy,Janina Forstén,Elina Koskinen et al.
Jonna Clancy et al.
In the era of genomic medicine, utilizing genetic information in the concept of personalized medicine has become widely attractive. In addition to the large-scale population level data sets, professional, standardized and legislated operati...
A case study of a novel homozygous EDAR splice site variant in hypohidrotic ectodermal dysplasia with tooth agenesis: molecular dynamics insights [0.03%]
一项关于低汗腺外胚层发育不全伴牙齿缺失的新发EDAR剪接位点变异的案例研究：分子动力学见解
Parham Nejati,Teymoor Khosravi,Saba Lorestani et al.
Parham Nejati et al.