期刊： ANNALS OF HUMAN GENETICS, 2022; 86 (4)
AimAutosomal dominant non-syndromic hearing loss is a common sensorineural disorder with extremely high genetic heterogeneity. CEA antigen-related cel......
期刊： ANNALS OF HUMAN GENETICS, 2022; 86 (4)
Background The circadian locomotor output cycles kaput (CLOCK) gene and the alcohol dehydrogenase 4 (ADH4) gene are promising candidates for susceptib......
期刊： ANNALS OF HUMAN GENETICS, 2022; 86 (2)
During a routine test, we identified a 38-year-old man who had a positive hematology screening result but was negative for hot spot variants of his th......
期刊： ANNALS OF HUMAN GENETICS, 2022; 86 (5)
One of the critical issues in genetic association studies is to evaluate the risk of a disease associated with gene-gene or gene-environment interacti......
期刊： ANNALS OF HUMAN GENETICS, 2022; 86 (6)
Objective Nonalcoholic fatty liver disease (NAFLD) is one of the leading causes of chronic liver diseases. However, the pathogenesis of NAFLD is large......
期刊： ANNALS OF HUMAN GENETICS, 2022; 86 (3)
Background Rheumatoid arthritis (RA) is a complex disease with several risk factors. The effects of blood metabolites on RA remains elusive. We conduc......
期刊： ANNALS OF HUMAN GENETICS, 2022; 86 (5)
Acute myelitis (AM) is a rare neuro-immune spinal cord disease. This study sought to explore the transcription level of glucocorticoid (GC) receptors ......
期刊： ANNALS OF HUMAN GENETICS, 2022; 86 (5)
Purpose The polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene C677T has been linked to H-type hypertension. But the conclusion remained......
期刊： ANNALS OF HUMAN GENETICS, 2021; 85 (3-4)
Lung adenocarcinoma (LUAD) is one of the most common forms of lung cancer, with a very high mortality rate. Although the treatments available for LUAD......
期刊： ANNALS OF HUMAN GENETICS, 2020; 84 (4)
The present study aimed to perform chromosome examination and pedigree analysis on three patients with semen abnormality who had undergone in vitro fe......
期刊： ANNALS OF HUMAN GENETICS, 2020; 84 (6)
Background Recently,NCAPH(non-SMC condensin I complex subunit H), a regulatory subunit of the condensin complex, has captured our attention in various......
期刊： ANNALS OF HUMAN GENETICS, 2020; 84 (6)
Osteogenesis imperfecta (OI), also known as "brittle bone disease," is a rare inherited genetic disorder characterized by bone fragility and often ass......
期刊： ANNALS OF HUMAN GENETICS, 2020; 84 (6)
Background Variants perturbing the normal splicing of pre-mRNA can lead to human diseases. The splice-altering effect and eventual consequence on gene......
期刊： ANNALS OF HUMAN GENETICS, 2020; 84 (1)
Intellectual disability (ID) describes a wide range of serious human diseases caused by defects in central nervous system development and function. So......
期刊： ANNALS OF HUMAN GENETICS, 2019; 83 (1)
Kawasaki disease (KD) is an acute systemic vasculitis that is most seriously complicated by coronary artery aneurysm (CAA). The polymorphisms of plate......
