期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (1)
GGC repeat expansion in the 5 ' untranslated region of NOTCH2NLC is the most common causative factor in neuronal intranuclear inclusion disease (NIID)......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (1)
Background Sarcomatoid component occurs in various epithelial malignancies and is associated with an aggressive disease course and poor clinical outco......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (6)
Background Premature ovarian insufficiency (POI) is a common disease in women that leads to a reduced reproductive lifespan. The aetiology of POI is g......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (12)
Background The SCN5A variant is a common cause of familial dilated cardiomyopathy (DCM). We previously reported a SCN5A variant (c.674G>A), located......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (7)
Background Identifying genetic disease-susceptible individuals through population screening is considered as a promising approach for disease preventi......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (7)
Most small non-coding RNAs (sncRNAs) with regulatory functions are encoded by majority sequences in the human genome, and the emergence of high-throug......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (5)
Background GGC repeat expansion in NOTCH2NLC has been recently linked to neuronal intranuclear inclusion disease (NIID) via unknown disease mechanisms......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (7)
Background Oligoasthenoteratozoospermia is a typical feature of sperm malformations leading to male infertility. Only a few genes have been clearly id......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (4)
Background Progressive cavitating leukoencephalopathy (PCL) is thought to result from mutations in nuclear genes affecting mitochondrial function and ......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (3)
High-quality interpretation of BRCA1/2 variants plays a critical role in the clinical practice of precision medicine. However, a comprehensive system ......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (1)
Background Myopia is the leading cause of refractive errors. As its pathogenesis is poorly understood, we determined if the retinal VIP-VIPR2 signalli......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (1)
Background Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode (MELAS) is a group of genetic diseases caused by mutations in ......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (4)
Purpose Universal germline testing in patients with colorectal cancer (CRC) with a multigene panel can detect various hereditary cancer syndromes. Thi......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (4)
Background Squamous cell carcinoma of the head and neck (SCCHN) is one of the most common cancers worldwide and includes cancers arising from the oral......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (9)
Background A large number of new causative and risk genes for amyotrophic lateral sclerosis (ALS) have been identified mostly in patients of European ......
