FAM216A Promotes Hepatocellular Carcinoma Proliferation and Invasion through the PLK1/ERK Signaling Pathway [0.03%]
FAM216A通过PLK1/ERK信号通路促进肝癌增殖和侵袭
Peng Ma,Ying Hao,Yuefeng Zhang et al.
Peng Ma et al.
Background and aims: Family with sequence similarity 216 member A (FAM216A) is overexpressed in several cancer tissues, but its prognostic value and pathological effect in hepatocellular carcinoma (HCC) have not been full...
BDNF Val66Met Variant as a Genetic Risk Factor for Major Depressive Disorder in Saudis [0.03%]
BDNF Val66Met变异体作为沙特阿拉伯人重大抑郁障碍的遗传风险因子
Lenah S Binmahfouz,Muteb F Alkhaldi,Yasmeen A Qutub et al.
Lenah S Binmahfouz et al.
Objective: Major depressive disorder (MDD) is a prevalent and disabling psychiatric condition in Saudi Arabia, with genetic susceptibility remaining incompletely characterized. Reduced brain-derived neurotrophic factor (B...
Genetic Analysis of 23 SNVs of Nine Genes Involved in RBC Membranopathies with the Hematological Parameters of Mexican Patients [0.03%]
墨西哥溶血性 membranopathy 患者中九个红细胞膜基因的遗传分析及其血液学参数关联研究
Laura Lucía Espinoza-Mata,Isis Mariela Herrera-Tirado,Francisco Javier Borrayo-López et al.
Laura Lucía Espinoza-Mata et al.
Red blood cell (RBC) membranopathies, caused by genetic alterations in membrane and cytoskeletal proteins, lead to significant variability in clinical presentation. This study analyzes 23 single nucleotide variants across nine genes (ADD1, ...
A Chinese Family with X-Linked Female-Limited High Myopia Caused by an ARR3 Variant [0.03%]
由ARR3变异引起的X连锁女性限性型高度近视的中国家系
Jianping Zhang,Yijia Zhao,Yueyuan Lan et al.
Jianping Zhang et al.
Background: X-linked female-limited high myopia (MYP26, OMIM:301010) is a rare Mendelian subtype of early-onset high myopia (eoHM), with females having progressive myopic refractive error (≥-6 D) and males as asymptomati...
Polymorphic Variants in Oxytocin and Arginine Vasopressin Receptors in a Pediatric Population with Autism Spectrum Disorder Diagnosis in Mexico [0.03%]
墨西哥自闭症谱系障碍儿童外落汀和精氨酸加压素受体多态性变异研究
Tania González Cortés,Cristina Sida Godoy,Jorge Haro Santa Cruz et al.
Tania González Cortés et al.
Background: Although several approaches have identified individual genes that contribute to autism spectrum disorder (ASD), more research is needed to establish whether these single nucleotide polymorphisms are associated...
Hsa_circ_0009910/hsa-miR-145-5p/IFNB1 Axis Potential Role in the Immunopathogenesis of COVID-19 Disease [0.03%]
HSA_CIR_0009910/HSA_MIR_145_5P/IFNB1轴在COVID_19免疫病理发生中的潜在作用
Abbas Shahi,Zahra Firoozi,Elham Mohammadisoleimani et al.
Abbas Shahi et al.
Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes a respiratory disorder responsible for the global pandemic and widespread mortality. Circular RNAs (circRNAs), one of the newest forms of noncoding RNAs (ncRNAs), are impor...
Association of IL17A rs4711998 and IL1B rs16944 Polymorphism with Anti-Thyroid Peroxidase Serum Level in Autoimmune Thyroid Diseases: A Case-Control Study in Iranian Population [0.03%]
IL17A基因rs4711998和IL1B基因rs16944多态性与自身免疫甲状腺疾病相关抗甲状腺过氧化物酶抗体水平的关联：伊朗人群中的病例-对照研究
Aynaz Asgharvand-Hajeb,Alireza Hatami,Parvin Sarbakhsh et al.
Aynaz Asgharvand-Hajeb et al.
Background: Autoimmune thyroid diseases (AITDs), including Hashimoto's thyroiditis and Graves' disease, are characterized by aberrant immune responses influenced by both genetic predisposition and environmental triggers. Genetic association...
Corrigendum to: Germline Multigene Panel Testing in Japanese Patients with Pheochromocytoma and Paraganglioma: Technical Feasibility and Clinical Utility [0.03%]
日本嗜铬细胞瘤和副神经胶质瘤患者中进行胚系多基因检测的技术可行性和临床应用价值的勘误：技术可行性与临床应用价值
Published Erratum
Genetic testing and molecular biomarkers. 2025 Dec;29(12):342. DOI:10.1177/19450265251399124 2025
A Novel Frameshift Variant in KIF11 Causes Autosomal Dominant Familial Exudative Vitreoretinopathy in a Chinese Family [0.03%]
KIF11框移变异导致的常染色体显性遗传家族渗出性视网膜病变
Jianping Zhang,Yijia Zhao,Yueyuan Lan et al.
Jianping Zhang et al.
Background: Familial exudative vitreoretinopathy (FEVR) is a rare inherited ocular disorder characterized by abnormal peripheral retinal vascular development. KIF11 variants are known to cause autosomal dominant FEVR, but novel pathogenic v...
Expanding the Phenotypic and Genotypic Spectrum of Postaxial Polydactyly: A Study of Four Consanguineous Pakistani Families [0.03%]
原发性后多指症的表型和基因型谱系扩展研究：四个近亲结婚的巴基斯坦家庭的病例研究报告
Tayyaba Saeed,Bushra Khan,Muhammad Haris Khan et al.
Tayyaba Saeed et al.
Background: Postaxial polydactyly (PAP) is characterized by the development of extra digits at the fifth finger. It can occur as an isolated disease or a part of a syndrome. The genetic basis of nonsyndromic PAP has been linked to sequence ...