COX6A2 variants cause a muscle‐specific cytochrome c oxidase deficiency
Objective Cytochrome c oxidase (COX) deficiency is a major mitochondrial respiratory chain
defect that has vast genetic and phenotypic heterogeneity. This study aims to identify novel …
defect that has vast genetic and phenotypic heterogeneity. This study aims to identify novel …
[PDF][PDF] Analysis of gut microbiome, host genetics, and plasma metabolites reveals gut microbiome-host interactions in the Japanese population
Y Tomofuji, T Kishikawa, K Sonehara, Y Maeda… - Cell Reports, 2023 - cell.com
Interaction between the gut microbiome and host plays a key role in human health. Here, we
perform a metagenome shotgun-sequencing-based analysis of Japanese participants to …
perform a metagenome shotgun-sequencing-based analysis of Japanese participants to …
The identified clinical features of Parkinson's disease in homo-, heterozygous and digenic variants of PINK1
To investigate the prevalence and genotype-phenotype correlations of phosphatase and
tensin homolog induced putative kinase 1 (PINK1) variants in Parkinson's disease (PD) …
tensin homolog induced putative kinase 1 (PINK1) variants in Parkinson's disease (PD) …
[HTML][HTML] Genome-wide SNP data of Izumo and Makurazaki populations support inner-dual structure model for origin of Yamato people
Abstract The “Dual Structure” model on the formation of the modern Japanese population
assumes that the indigenous hunter-gathering population (symbolized as Jomon people) …
assumes that the indigenous hunter-gathering population (symbolized as Jomon people) …
Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories
FC Ceballos, S Hazelhurst, M Ramsay - Human genetics, 2019 - Springer
The study of runs of homozygosity (ROH) can shed light on population demographic history
and cultural practices. We present a fine-scale ROH analysis of 1679 individuals from 28 …
and cultural practices. We present a fine-scale ROH analysis of 1679 individuals from 28 …
[HTML][HTML] Association of single nucleotide polymorphisms in the NRF2 promoter with vascular stiffness with aging
S Shimizu, J Mimura, T Hasegawa, E Shimizu… - PLoS …, 2020 - journals.plos.org
Purpose Pulse wave velocity (PWV), an indicator of vascular stiffness, increases with age
and is increasingly recognized as an independent risk factor for cardiovascular disease …
and is increasingly recognized as an independent risk factor for cardiovascular disease …
Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals
Protein-truncating variants (PTVs) have important impacts on phenotype diversity and
disease. However, their population genetics characteristics in more globally diverse …
disease. However, their population genetics characteristics in more globally diverse …
Crohn's disease and early exposure to thiopurines are independent risk factors for mosaic chromosomal alterations in patients with inflammatory bowel diseases
Y Kakuta, H Iwaki, J Umeno, Y Kawai… - Journal of Crohn's …, 2022 - academic.oup.com
Abstract Background and Aims Mosaic chromosomal alterations [mCAs] increase the risk for
haematopoietic malignancies and may be risk factors for several other diseases …
haematopoietic malignancies and may be risk factors for several other diseases …
[HTML][HTML] Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes
H Mutai, Y Momozawa, Y Kamatani, A Nakano… - Orphanet Journal of …, 2022 - Springer
Background Heterogeneous genetic loci contribute to hereditary hearing loss; more than
100 deafness genes have been identified, and the number is increasing. To detect …
100 deafness genes have been identified, and the number is increasing. To detect …
[HTML][HTML] Functional variants in ADH1B and ALDH2 are non-additively associated with all-cause mortality in Japanese population
The functional variants involved in alcohol metabolism, the A allele of rs1229984: A> G in
ADH1B and the A allele of rs671: G> A in ALDH2, are specifically prevalent among East …
ADH1B and the A allele of rs671: G> A in ALDH2, are specifically prevalent among East …