Kenichi Yamamoto
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View article: Whole-genome sequencing reveals rare and structural variants contributing to psoriasis and identifies CERCAM as a risk gene
Whole-genome sequencing reveals rare and structural variants contributing to psoriasis and identifies CERCAM as a risk gene Open
Psoriasis vulgaris (PsV) is an immune-mediated inflammatory skin disorder with complex genetic architecture. Most genome-wide association studies (GWASs) of PsV have been limited to analyzing common single-nucleotide variants in Europeans,…
View article: Deciphering state-dependent immune features from multi-layer omics data at single-cell resolution
Deciphering state-dependent immune features from multi-layer omics data at single-cell resolution Open
Current molecular quantitative trait locus catalogs are mostly at bulk resolution and centered on Europeans. Here, we constructed an immune cell atlas with single-cell transcriptomics of >1.5 million peripheral blood mononuclear cells, hos…
View article: A novel heterozygous frameshift pathogenic variant in GCM2 gene causing isolated hypoparathyroidism: a case report
A novel heterozygous frameshift pathogenic variant in GCM2 gene causing isolated hypoparathyroidism: a case report Open
Glial cells missing transcription factor 2 ( GCM2 ) is one of the genes responsible for isolated hypoparathyroidism. Most cases of hypoparathyroidism caused by GCM2 pathogenic variants result from homozygous or compound heterozygous loss-o…
View article: Dissecting cross-population polygenic heterogeneity across respiratory and cardiometabolic diseases
Dissecting cross-population polygenic heterogeneity across respiratory and cardiometabolic diseases Open
Biological mechanisms underlying multimorbidity remain elusive. To dissect the polygenic heterogeneity of multimorbidity in twelve complex traits across populations, we leveraged biobank resources of genome-wide association studies (GWAS) …
View article: Germline variants and mosaic chromosomal alterations affect COVID-19 vaccine immunogenicity
Germline variants and mosaic chromosomal alterations affect COVID-19 vaccine immunogenicity Open
View article: Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder
Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder Open
Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune disease characterized by optic neuritis and transverse myelitis, with an unclear genetic background. A genome-wide meta-analysis of NMOSD in Japanese individuals (240 pati…
View article: Blood DNA virome associates with autoimmune diseases and COVID-19
Blood DNA virome associates with autoimmune diseases and COVID-19 Open
View article: Effects of Defects and Shot Peening on Fatigue Properties of Additively Manufactured CoCrFeNiTiMo-Based High-Entropy Alloys
Effects of Defects and Shot Peening on Fatigue Properties of Additively Manufactured CoCrFeNiTiMo-Based High-Entropy Alloys Open
Recently, the automotive industry has increasingly focused on additive manufacturing as a new technology for reducing the weights of automobiles. In this study, fatigue tests were conducted on additively manufactured high-entropy alloys wi…
View article: Genetic legacy of ancient hunter-gatherer Jomon in Japanese populations
Genetic legacy of ancient hunter-gatherer Jomon in Japanese populations Open
The tripartite ancestral structure is a recently proposed model for the genetic origin of modern Japanese, comprising indigenous Jomon hunter-gatherers and two additional continental ancestors from Northeast Asia and East Asia. To investig…
View article: Publisher Correction: Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance
Publisher Correction: Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance Open
View article: Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance
Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance Open
View article: Functional landscape of genome-wide postzygotic somatic mutations between monozygotic twins
Functional landscape of genome-wide postzygotic somatic mutations between monozygotic twins Open
Monozygotic (MZ) twins originate from a single fertilized egg, making them genetically identical at the time of conception. However, postzygotic somatic mutations (PZMs) can introduce genetic differences after separation. Although whole-ge…
View article: Primary Aldosteronism and Risk of Cardiovascular Outcomes: Genome‐Wide Association and Mendelian Randomization Study
Primary Aldosteronism and Risk of Cardiovascular Outcomes: Genome‐Wide Association and Mendelian Randomization Study Open
Background Observational studies have reported associations between primary aldosteronism (PA) and cardiovascular outcomes, including coronary artery diseases (CAD), congestive heart failure (CHF), and stroke. However, establishing causali…
View article: Quantification of escape from X chromosome inactivation with single-cell omics data reveals heterogeneity across cell types and tissues
Quantification of escape from X chromosome inactivation with single-cell omics data reveals heterogeneity across cell types and tissues Open
Several X-linked genes escape from X chromosome inactivation (XCI), while differences in escape across cell types and tissues are still poorly characterized. Here, we developed scLinaX for directly quantifying relative gene expression from…
View article: Dissection of the signal transduction machinery responsible for the lysyl oxidase-like 4-mediated increase in invasive motility in triple-negative breast cancer cells: mechanistic insight into the integrin-β1-NF-κB-MMP9 axis
Dissection of the signal transduction machinery responsible for the lysyl oxidase-like 4-mediated increase in invasive motility in triple-negative breast cancer cells: mechanistic insight into the integrin-β1-NF-κB-MMP9 axis Open
Background Triple-negative breast cancer (TNBC) cells are a highly formidable cancer to treat. Nonetheless, by continued investigation into the molecular biology underlying the complex regulation of TNBC cell activity, vulnerabilities can …
View article: Lysyl oxidase-like 4 promotes the invasiveness of triple-negative breast cancer cells by orchestrating the invasive machinery formed by annexin A2 and S100A11 on the cell surface
Lysyl oxidase-like 4 promotes the invasiveness of triple-negative breast cancer cells by orchestrating the invasive machinery formed by annexin A2 and S100A11 on the cell surface Open
Background Our earlier research revealed that the secreted lysyl oxidase-like 4 (LOXL4) that is highly elevated in triple-negative breast cancer (TNBC) acts as a catalyst to lock annexin A2 on the cell membrane surface, which accelerates i…
View article: HKDC1, a target of TFEB, is essential to maintain both mitochondrial and lysosomal homeostasis, preventing cellular senescence
HKDC1, a target of TFEB, is essential to maintain both mitochondrial and lysosomal homeostasis, preventing cellular senescence Open
Mitochondrial and lysosomal functions are intimately linked and are critical for cellular homeostasis, as evidenced by the fact that cellular senescence, aging, and multiple prominent diseases are associated with concomitant dysfunction of…
View article: Analysis of gut microbiome, host genetics, and plasma metabolites reveals gut microbiome-host interactions in the Japanese population
Analysis of gut microbiome, host genetics, and plasma metabolites reveals gut microbiome-host interactions in the Japanese population Open
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 reveal associations between the gut microbiome, host genetics, an…
View article: Extracting immunological and clinical heterogeneity across autoimmune rheumatic diseases by cohort-wide immunophenotyping
Extracting immunological and clinical heterogeneity across autoimmune rheumatic diseases by cohort-wide immunophenotyping Open
Cohort-wide and cross-disease immunophenotyping elucidate clinically heterogeneous patient subtypes existing within single disease in immune cell type-specific manner.
View article: Phosphorylated SARM1 is involved in the pathological process of rotenone-induced neurodegeneration
Phosphorylated SARM1 is involved in the pathological process of rotenone-induced neurodegeneration Open
Sterile alpha and Toll/interleukin receptor motif-containing protein 1 (SARM1) is a NAD+ hydrolase that plays a key role in axonal degeneration and neuronal cell death. We reported that c-Jun N-terminal kinase (JNK) activates SARM1 through…
View article: Association of trabecular bone score and bone mineral apparent density with the severity of bone fragility in children and adolescents with osteogenesis imperfecta: A cross-sectional study
Association of trabecular bone score and bone mineral apparent density with the severity of bone fragility in children and adolescents with osteogenesis imperfecta: A cross-sectional study Open
Osteogenesis imperfecta (OI) is a hereditary skeletal disease characterized by bone fragility. Areal bone mineral density (BMD), evaluated by dual-energy X-ray absorptiometry (DXA), is used to assess bone brittleness. The height-adjusted B…
View article: Genome-wide association study identifies risk loci within the major histocompatibility complex region for Hunner-type interstitial cystitis
Genome-wide association study identifies risk loci within the major histocompatibility complex region for Hunner-type interstitial cystitis Open
Hunner-type interstitial cystitis (HIC) is a rare, chronic inflammatory disease of the urinary bladder with unknown etiology and genetic background. Here, we conduct a genome-wide association study of 144 patients with HIC and 41,516 contr…
View article: AB0167 SINGLE-CELL SPATIAL TRANSCRIPTOME ANALYSIS IDENTIFIES DISEASE-SPECIFIC FIBROBLASTS IN RHEUMATOID VASCULITIS
AB0167 SINGLE-CELL SPATIAL TRANSCRIPTOME ANALYSIS IDENTIFIES DISEASE-SPECIFIC FIBROBLASTS IN RHEUMATOID VASCULITIS Open
View article: RARE-03. GENOME-WIDE ASSOCIATION STUDY OF INTRACRANIAL GERM CELL TUMORS: A COMMON DELETION AT BAK1 ATTENUATES THE ENHANCER ACTIVITY AND CONFERS RISK FOR THE BRAIN TUMORS IN CHILDREN ADOLESCENTS AND YOUNG ADULTS
RARE-03. GENOME-WIDE ASSOCIATION STUDY OF INTRACRANIAL GERM CELL TUMORS: A COMMON DELETION AT BAK1 ATTENUATES THE ENHANCER ACTIVITY AND CONFERS RISK FOR THE BRAIN TUMORS IN CHILDREN ADOLESCENTS AND YOUNG ADULTS Open
Intracranial germ cell tumors (IGCTs) are rare brain tumors that mainly occur in children, adolescents and young adults with a particularly high incidence in East Asian populations. The biological basis of these tumors is still largely unk…
View article: Reconstruction of the personal information from human genome reads in gut metagenome sequencing data
Reconstruction of the personal information from human genome reads in gut metagenome sequencing data Open
Human DNA present in faecal samples can result in a small number of human reads in gut shotgun metagenomic sequencing data. However, it is presently unclear how much personal information can be reconstructed from such reads, and this has n…
View article: STAT1/3 signaling suppresses axon degeneration and neuronal cell death through regulation of NAD+-biosynthetic and consuming enzymes
STAT1/3 signaling suppresses axon degeneration and neuronal cell death through regulation of NAD+-biosynthetic and consuming enzymes Open
Nicotinamide adenine dinucleotide (NAD)+-biosynthetic and consuming enzymes are involved in various intracellular events through the regulation of NAD+ metabolism. Recently, it has become clear that alterations in the…
View article: Single-cell analyses and host genetics highlight the role of innate immune cells in COVID-19 severity
Single-cell analyses and host genetics highlight the role of innate immune cells in COVID-19 severity Open
Mechanisms underpinning the dysfunctional immune response in severe acute respiratory syndrome coronavirus 2 infection are elusive. We analyzed single-cell transcriptomes and T and B cell receptors (BCR) of >895,000 peripheral blood mononu…
View article: Novel extracellular role of REIC/Dkk-3 protein in PD-L1 regulation in cancer cells
Novel extracellular role of REIC/Dkk-3 protein in PD-L1 regulation in cancer cells Open
View article: LOXL1 and LOXL4 are novel target genes of the Zn2+-bound form of ZEB1 and play a crucial role in the acceleration of invasive events in triple-negative breast cancer cells
LOXL1 and LOXL4 are novel target genes of the Zn2+-bound form of ZEB1 and play a crucial role in the acceleration of invasive events in triple-negative breast cancer cells Open
Background EMT has been proposed to be a crucial early event in cancer metastasis. EMT is rigidly regulated by the action of several EMT-core transcription factors, particularly ZEB1. We previously revealed an unusual role of ZEB1 in the S…
View article: Genetic Risk of Primary Aldosteronism and Its Contribution to Hypertension: A Cross-Ancestry Meta-Analysis of Genome-Wide Association Studies
Genetic Risk of Primary Aldosteronism and Its Contribution to Hypertension: A Cross-Ancestry Meta-Analysis of Genome-Wide Association Studies Open
Background: Hypertension imposes substantial health and economic burden worldwide. Primary aldosteronism (PA) is one of the most common causes of secondary hypertension, causing cardiovascular events at higher risk compared with essential …