期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (8)
As a promising diagnostic and prognostic biomarker for Alzheimer's Disease (AD), plasma p-tau181 is robustly differentiated AD dementia from non-AD ne......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (9)
Epigenetics play an essential role in colorectal neoplasia process. There is a need to determine the appropriateness of epigenetic biomarkers for earl......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (2)
NPRL2 (nitrogen permease regulator like 2) is a component of the GATOR1(GAP activity towards rags complex 1) proteins, which is an inhibitor of the am......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (11)
Hereditary hearing loss is genetically heterogeneous, with diverse clinical manifestations. Here we performed targeted genome sequencing of 227 hearin......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (7)
Mutations in the DNAJB6 gene cause limb girdle muscular dystrophy D1 (LGMD D1) and distal myopathy with rimmed vacuoles. With the discovery of new mut......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (2)
Infertility affects about 15% of heterosexual couples and male factors account for similar to 45-50% of clinical cases. Genetic factors play an import......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (1)
The development of sequencing techniques identified numerous genetic variants, and accurate evaluation of the clinical significance of these variants ......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (4)
To compare single-molecule real-time technology (SMRT) and conventional genetic diagnostic technology of rare types of thalassemia mutations, and to a......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (11)
Region of homozygosity (ROH) is classified as uniparental disomy (UPD) or identity by descent, depending on its origin. To explore the clinical releva......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (11)
Estimating the lifetime risk of ovarian cancer in Chinese women with BRCA1/2 germline pathogenic variants (PVs) is of great importance for the clinica......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (3)
The Kyrgyz are a trans-border ethnic group, mainly living in Kyrgyzstan. Previous genetic investigations of Central Asian populations have repeatedly ......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (4)
Objective Primary ciliary dyskinesia (PCD) is a heterogeneous disease characterized by the failure of mucociliary clearance. Dynein regulatory complex......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (9)
Objective To evaluate if the NT value of 2.5 mm <= NT < 3.0 mm is an appropriate indication for CMA tests among fetuses with isolated increased ......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (5)
Peptidyl arginine deiminase, type VI (PADI6) is a member of the subcortical maternal complex (SCMC), which plays vital roles in mammalian embryogenesi......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (10)
Heterotaxy syndrome is a very rare congenital disease, which is caused by the disorder of left-right asymmetry during visceral development. However, p......
