期刊： HUMAN HEREDITY, 2022; 87 (1)
Objectives: Dilated cardiomyopathy (DCM) is a complex cardiovascular disease with unknown etiology. Although nuclear genes play active roles in DCM, m......
期刊： HUMAN HEREDITY, 2022; 87 (2)
Objectives: Mutations in mitochondrial tRNA (mt-tRNA) are the important causes for maternally inherited hypertension; however, the pathophysiology of ......
期刊： HUMAN HEREDITY, 2022; 87 (2)
Introduction: Type A insulin resistance syndrome is a rare type of congenital insulin resistance often caused by heterozygous mutations in the insulin......
期刊： HUMAN HEREDITY, 2022; 87 (3-4)
Introduction: Impairment of mitochondrial function caused by pathogenic mitochondrial DNA (mtDNA) mutations has been found to be associated with pre-e......
期刊： HUMAN HEREDITY, 2022; 87 (3-4)
Introduction: The role of neuraminidases in cardiovascular disease has recently gained increasing attention. However, the association between neuramin......
期刊： HUMAN HEREDITY, 2021; 85 (3-6)
Objectives: Nonsyndromic hearing loss (NSHL) is the most frequent type of hereditary hearing impairment. Here, we explored the underlying genetic caus......
期刊： HUMAN HEREDITY, 2021; 85 (3-6)
Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by one or more mutations in the G6PD gene on chromosome X. This study aimed ......
期刊： HUMAN HEREDITY, 2021; 85 (3-6)
Background: Voltage-gated sodium channels are protein complexes composed of 2 subunits, namely, pore-forming alpha- and regulatory beta-subunits. A be......
期刊： HUMAN HEREDITY, 2021; 85 (1)
Background: Lung cancer is one of the most common malignant tumors, and asbestos exposure was suggested to contribute to a proportion of lung cancer c......
