HFE and Non- HFE Hereditary Hemochromatosis Based on Screening of 854 Individuals: 12 Years of an Iranian Experience [0.03%]
基于854人筛查的遗传性血色病(HFE)和非(HFE)遗传性血色病：伊朗12年的诊疗经验
Razieh Zarifian Yeganeh,Masoumeh Akbari Kelishomi,Atiyeh Ahmadpour Jenaghard et al.
Razieh Zarifian Yeganeh et al.
Introduction: The genetics of hereditary hemochromatosis (HH) is understudied in Iran. Here, we report the result of genetic screening of 854 individuals, referred as "suspected cases of HH," to a diagnostic laboratory in Iran over a 12-yea...
Association of ACTN4 Gene Mutation with Primary Nephrotic Syndrome in Children in Guangxi Autonomous Region, China [0.03%]
ACTN4基因突变与中国广西地区儿童原发性肾病综合征的相关性研究
Shan Cao,Dan Wang,Lixiao Liu et al.
Shan Cao et al.
Objective: To investigate the association between ACTN4 gene mutation and primary nephrotic syndrome (PNS) in children in Guangxi Autonomous Region, China. Methods: The high-throughput sequencing technology was used to sequence ACTN4 gene i...
The Evaluation of the Genetic Variation Types of the Uridine Diphosphate Glucuronosyl Transferase 1A1 Gene by Next-Generation Sequencing and Their Effects on Bilirubin Levels in Obese Children [0.03%]
下一代测序评估尿苷二磷酸葡萄糖醛酸转移酶1A1基因的遗传变异类型及其对肥胖儿童胆红素水平的影响
Merve Aslantas,Onder Kilicaslan,Recep Eröz et al.
Merve Aslantas et al.
Background and Objectives: Obesity is a major nutritional problem with an increasing prevalence among children and adolescents. The uridine-diphosphate-glucuronosyl-transferase1A1 (UGT1A1) gene encodes the UDP-glucuronosyl transferase enzym...
High Frequency of Ancestral Haplotype A of Fatty Acid Desaturase Genes in the Yakut Population [0.03%]
萨哈(雅库特)人群脂肪酸脱氢酶基因祖先型单体型A高频存在
Nadezhda I Pavlova,Alexey V Krylov,Alexey A Bochurov et al.
Nadezhda I Pavlova et al.
Aims: The purpose of this study was to study the correlation of the body weight of Yakuts with the variability of polymorphisms rs174537, rs174546 and rs3834458 of the FADS1 - FADS2 region to identify the connection of certain genotypes wit...
Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes [0.03%]
CCDC40同合子突变导致的男性不育及运动终末细胞性微腺样结构和PCD表型异常病例报告
Zhonglin Liu,Chunyan Wang,Feng Ni et al.
Zhonglin Liu et al.
Aims: Asthenozoospermia is the most common factor of male infertility, mainly caused by multiple morphological abnormalities of the sperm flagella (MMAF) and primary ciliary dyskinesia (PCD). Previous studies have shown that genetic factors...
The 3'UTR Polymorphisms in the NLRP3 Gene Associated with the Risk of COPD and Their Putative Effects on the microRNA Mechanism [0.03%]
NLRP3基因的3' UTR多态性与COPD发病风险及其对microRNA机制的影响研究
Huiyan Wu,Chuting Huang,Yanling Zhang et al.
Huiyan Wu et al.
Aims: Evaluating the association between a single nucleotide polymorphism in the 3' untranslated region (3'UTR) of the miRNA binding site of the NLRP3 gene and the occurrence and development of chronic obstructive pulmonary disease (COPD) a...
Aberrant Super-Enhancer Landscape in Enzalutamide-Resistant Prostate Cancer Cells [0.03%]
恩杂鲁胺耐药性前列腺癌细胞中异常的超级增强子景观
Chao Cai,Qinwei Liu,Haoran Shan et al.
Chao Cai et al.
Background: Castration-resistant prostate cancer (CRPC), which has developed resistance to next-generation antiandrogens, such as enzalutamide (Enz), is a lethal disease. Furthermore, transcriptional regulation by super enhancers (SEs) is c...
Novel WFS1 Variants in Two Moroccan Families with Wolfram Syndrome [0.03%]
Wolfram综合征两个摩洛哥家系中的新型WFS1变异
Ahmed Bouhouche,Sara Sefiani,Hicham Charoute et al.
Ahmed Bouhouche et al.
Background: Wolfram syndrome (WFS) is an autosomal recessive disorder that often leads to diabetes, optic atrophy, and sensorineural hearing loss. The aim of this study was to determine the clinical characteristics and the genetic cause of ...
Genetic Polymorphism of Interleukin-6 in Asymptomatic and ICU-Admitted COVID-19 Patients in Sulaymaniyah Province, Kurdistan Region of Iraq [0.03%]
伊拉克库尔德地区苏莱曼尼亚省无症状和ICU收治的新冠肺炎患者的白细胞介素-6基因多态性研究
Peshnyar M A Rashid,Gaza F Salih
Peshnyar M A Rashid
Background: The global pandemic of Coronavirus Disease 2019 (COVID-19) has resulted in significant fatality rates. Clinical outcomes for affected individuals range from being asymptomatic to severe illnesses requiring intensive care unit (I...
MTHFR 677C>T and 1298A>C Variants in Mothers of Infants with Down Syndrome from Western Mexico [0.03%]
墨西哥西部唐氏综合征婴儿母亲的MTHFR 677C>T和1298A>C变异
Yaneris Maibeth Romero-Bolaño,Lucina Bobadilla-Morales,Alfredo Corona-Rivera et al.
Yaneris Maibeth Romero-Bolaño et al.
Background: Several studies in mothers of infants with Down syndrome (DS) (MoIDS) have suggested that the 677C>T and 1298A>C variants of the 5,10-methylentetrahydrofolate reductase (MTHFR) gene can increase the risk of having a child with D...