Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report [0.03%]
NAA10基因新型异质性新生突变p.(His16Pro)导致的严重综合征型智障及X染色体非随机失活：一例报道
Ingrid Bader,Nina McTiernan,Christine Darbakk et al.
Ingrid Bader et al.
Background: NAA10 is the catalytic subunit of the major N-terminal acetyltransferase complex NatA which acetylates almost half the human proteome. Over the past decade, many NAA10 missense variants have been reported as c...
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families [0.03%]
全外显子组测序鉴定出五个近亲婚配的巴基斯坦家庭感音神经聋突变基因
Yingjie Zhou,Muhammad Tariq,Sijie He et al.
Yingjie Zhou et al.
Background: Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. Approximately 50-60% of hearing loss patients are attributed to genetic causes. Currently, more than 100 gene...
A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency [0.03%]
严重葡萄糖-6-磷酸脱氢酶缺乏家系中发现的一个新颖的G6PD有害变异
Yongqing Tong,Bei Liu,Hongyun Zheng et al.
Yongqing Tong et al.
Background: Glucose-6-phosphate dehydrogenase deficiency (D-G6PD) is an X-linked recessive disorder resulted from deleterious variants in the housekeeping gene Glucose-6-phosphate 1-dehydrogenase (G6PD), causing impaired ...
Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report [0.03%]
全外显子组测序在中国五个家庭的莱igh综合征中鉴定出新颖的ECHS1突变：病例报告
Dan Sun,Zhimei Liu,Yongchu Liu et al.
Dan Sun et al.
Background: Short-chain enoyl-CoA hydratase deficiency (ECHS1D), also known as ECHS1 deficiency, is a rare inborn metabolic disorder with clinical presentations characterized by Leigh syndrome (LS). Thirty-four different ...
Association of MUC1 5640G>A and PSCA 5057C>T polymorphisms with the risk of gastric cancer in Northern Iran [0.03%]
MUC1 5640G>A和PSCA 5057C>T多态性与北伊朗人胃癌易感性的关联研究
Reza Alikhani,Ali Taravati,Mohammad Bagher Hashemi-Soteh
Reza Alikhani
Background: Gastric cancer is one of the four most common cancer that causing death worldwide. Genome-Wide Association Studies (GWAS) have shown that genetic diversities MUC1 (Mucin 1) and PSCA (Prostate Stem Cell Antigen...
Copy number variation of IL17RA gene and its association with the ankylosing spondylitis risk in Iranian patients: a case-control study [0.03%]
IL17RA基因拷贝数变异与伊朗强直性脊柱炎患者的发病风险相关性：病例对照研究
Hamideh Aghaei,Elham Farhadi,Maryam Akhtari et al.
Hamideh Aghaei et al.
Background: Ankylosing spondylitis (AS) is considered as a subtype of spondyloarthritis (SpA) that mainly leads to fatigue, stiffness, spinal ankylosis, and impaired physical functions with reduced quality of life. Interl...
APOE - a genetic marker of comorbidity in subjects with morbid obesity [0.03%]
APOE基因与病态肥胖患者的共患病标志物之间的关系研究
Per G Farup,Helge Rootwelt,Knut Hestad
Per G Farup
Background: In population-based studies, the genetic variability of the APOE E alleles have been associated with health outcomes. Health problems are common in subjects with obesity. This study explored associations betwe...
Association analysis of polymorphisms rs12997 in ACVR1 and rs1043784 in BMP6 genes involved in bone morphogenic protein signaling pathway in primary angle-closure and pseudoexfoliation glaucoma patients of Saudi origin [0.03%]
沙乌地原发性闭角型及伪剥性青光眼患者骨形生蛋白信号路径ACVR1基因rs12997和BMP6基因rs1043784多型性之关联分析
Altaf A Kondkar,Tahira Sultan,Taif A Azad et al.
Altaf A Kondkar et al.
Background: Glaucoma is a polygenic neurodegenerative disease and the second most common cause of blindness in Saudi Arabia. To test the hypothesis that genetic variants in the genes involved in the bone morphogenic prote...
Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report [0.03%]
全外显子组测序鉴别出一个新的PDE3A变异引起E型并指的常染色体显性高血压：病例报告
Xianqing Li,Zongzhe Li,Peng Chen et al.
Xianqing Li et al.
Background: Autosomal dominant hypertension with brachydactyly type E syndrome caused by pathogenic variants in the PDE3A gene was first reported in 2015. To date, there are only a few reports of this kind of syndrome. Ot...
Association of interleukin 2, interleukin 12, and interferon-γ with intervertebral disc degeneration in Iranian population [0.03%]
伊朗人群中细胞因子与腰椎间盘退变的关系研究
Sara Hanaei,Sina Abdollahzade,Maryam Sadr et al.
Sara Hanaei et al.
Background: Intervertebral disc degeneration (IVDD) is an age-related degenerative disease, presenting with low back pain or radicular pain. The inflammatory changes would occur in discs in the process of IVDD. Therefore,...