Genetic analysis of childhood-onset dystonia-28 caused by a variant (c.5076G>A) in the KMT2B gene [0.03%]
儿童发病的第28种肌张力不全（由KMT2B基因上的变异(c.5076G>A)引起）的遗传分析
Wenlong Shen,Xiaopan Chen,Yajie Yuan et al.
Wenlong Shen et al.
Objective: To investigate the clinical manifestations and genetic basis of childhood-onset dystonia-28 (DYT28) associated with a variant in the KMT2B gene. ...
Integrating multi-omics and mendelian randomization identifies therapeutic targets for Lichen Sclerosus: A druggable genome-wide study [0.03%]
整合多组学和孟德尔随机化鉴定出硬化性苔藓的治疗靶点：一项可成药的全基因组研究
Shuai Wang,Pengfei Wang,Haiping Li et al.
Shuai Wang et al.
Background: Lichen sclerosus (LS) is a chronic inflammatory skin disease characterized by limited treatment options and an unclear pathogenesis. This study aimed to identify potential therapeutic targets for LS by integra...
Clinical and regional distribution of TTN variants in toe walking: A descriptive cohort study [0.03%]
肌联蛋白变异在踮脚尖步态中的临床及分布特征：一项描述性队列研究
David Pomarino,Amel Sidi Athmane,Bastian Fregien et al.
David Pomarino et al.
Background: The TTN gene encodes titin, a key structural protein of the sarcomere. Variants in TTN are frequently identified in genetic testing, but their clinical interpretation remains challenging due to their high prev...
Genotypic and phenotypic spectrum of Galloway-Mowat syndrome in Kuwait [0.03%]
科威特Galloway-Mowat综合征的基因型和表型谱系
Fares Alhammad,Nawal Y Ali,Sumaya Alkanderi et al.
Fares Alhammad et al.
Introduction: Galloway-Mowat syndrome (GAMOS) is a rare genetic disorder that is characterized by microcephaly and neurological and renal abnormalities. Ten types of GAMOS exist based on the underlying implicated gene. Th...
DNA methylation and exosomes in relation to type 2 diabetes in Black South Africans: A pilot study [0.03%]
与南非黑人2型糖尿病有关的DNA甲基化和外泌体：一项试点研究
Buhle B Mbali,Laverdure T Piame,Sesethu Sehole et al.
Buhle B Mbali et al.
Type 2 diabetes (T2D) is a metabolic disorder characterised by hyperglycaemia, reduced insulin secretion, and increased insulin resistance, yet its mechanisms are not fully understood. While genetic predisposition contributes to the variabl...
Research on the imbalance of metal homeostasis and ferroptosis mechanisms in neurodegenerative diseases [0.03%]
金属稳态失衡和铁死亡介导的神经退行性疾病发病机制研究进展
Peiyun Zhang,Wei Jin,Xinxuan Lyu et al.
Peiyun Zhang et al.
Objective: To investigate the associations between urinary and serum metal levels and neurodegenerative diseases (NGDs) as well as all-cause mortality, and identify research trends through bibliometric. ...
No significant increase in thrombotic risk following the widespread adoption of TPO-RAs in ITP: A comparative study [0.03%]
TPO-RA在ITP中广泛应用并未显著增加血栓风险：一项回顾性队列研究
Yun Wang,Huiyuan Li,Yunfei Chen et al.
Yun Wang et al.
In patients with primary immune thrombocytopenia (ITP), the risk of thrombosis associated with thrombopoietin receptor agonists (TPO-RAs) remains debated. This study compared the thrombosis occurrence in ITP patients before and after the la...
Molecular mechanism study of novel compound heterozygous EOGT mutations leading to Adams-Oliver syndrome type 4 [0.03%]
新型复合杂合EOGT突变导致的Adams Oliver综合征型4的分子机制研究
Yufei He,Xiangyu Liu,Zongrui Shen et al.
Yufei He et al.
Adams-Oliver Syndrome Type 4 (AOS4) is a rare autosomal recessive disorder primarily characterized by aplasia cutis congenita and cranial defects. Pathogenic variants in several genes, including DOCK6, ARHGAP31, EOGT, RBPJ, DLL4, and NOTCH1...
Molecular genetic diagnosis of autosomal dominant polycystic kidney disease - A systematic review [0.03%]
常染色体显性多囊肾病的分子遗传学诊断方法系统评价
Natalie Ciantar,Edith Said
Natalie Ciantar
Background: Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder primarily caused by pathogenic variants in PKD1 and PKD2. Although molecular testing has revolutionized diagnosis, v...
Can automated copy number variation pathogenicity prediction tools replace manual review under the ACMG framework? A clinical validation [0.03%]
自动化拷贝数变异致病性预测工具能否替代ACMG框架下的人工审核？一项临床验证研究
Yingying Zhang,Xiuming Zhang,Dayang Chen
Yingying Zhang
Background: Copy Number Variation (CNV) is associated with numerous complex diseases, yet their pathogenicity assessment remains heavily dependent on manual expert review, a process that is cumbersome and time-consuming. ...