Lista de obras -

A genome-wide association study of third molar agenesis in Japanese and Korean populations

scientific journal article

A nonsynonymous variant of IL1A is associated with endometriosis in Japanese population

artículo científico publicado en 2013

A systems genetics approach provides a bridge from discovered genetic variants to biological pathways in rheumatoid arthritis

artículo científico publicado en 2011

ABCG2 dysfunction causes hyperuricemia due to both renal urate underexcretion and renal urate overload

artículo científico publicado en 2014

APOBEC: A molecular driver in cervical cancer pathogenesis

artículo científico publicado en 2020

ARID1A protein expression is retained in ovarian endometriosis with ARID1A loss-of-function mutations: implication for the two-hit hypothesis

scientific article published on 31 August 2020

Aggregation of rare/low-frequency variants of the mitochondria respiratory chain-related proteins in rheumatoid arthritis patients.

artículo científico publicado en 2015

Allelic Imbalance in Regulation of ANRIL through Chromatin Interaction at 9p21 Endometriosis Risk Locus

artículo científico publicado en 2016

Assessment of Artificial MiRNA Architectures for Higher Knockdown Efficiencies without the Undesired Effects in Mice

artículo científico publicado en 2015

Clonal Expansion and Diversification of Cancer-Associated Mutations in Endometriosis and Normal Endometrium

scientific article published on 01 August 2018

Clonal lineage from normal endometrium to ovarian clear cell carcinoma through ovarian endometriosis

scientific article published on 30 May 2020

Combined Change of Behavioral Traits for Domestication and Gene-Networks in Mice Selectively Bred for Active Tameness

artículo científico publicado en 2020

Common dysfunctional variants of ABCG2 have stronger impact on hyperuricemia progression than typical environmental risk factors

artículo científico publicado en 2014

Common variant of BCAS3 is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese.

artículo científico publicado en 2018

Comprehensive discovery of CRISPR-targeted terminally redundant sequences in the human gut metagenome: Viruses, plasmids, and more

artículo científico publicado en 2021

Comprehensive genetic exploration of selective tooth agenesis of mandibular incisors by exome sequencing.

scientific article published on 23 February 2017

Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel

artículo científico publicado en 2016

Concurrent isolated retroperitoneal HGSC and STIC defined by somatic mutation analysis: a case report

artículo científico publicado en 2019

Detection of ancestry informative HLA alleles confirms the admixed origins of Japanese population.

artículo científico publicado en 2013

Different mutation profiles between epithelium and stroma in endometriosis and normal endometrium

scientific article published on 01 October 2019

Differential effects of chromosome 9p21 variation on subphenotypes of intracranial aneurysm: site distribution

artículo científico publicado en 2010

Distribution of HLA haplotypes across Japanese Archipelago: similarity, difference and admixture

artículo científico

Dysfunctional missense variant of OAT10/SLC22A13 decreases gout risk and serum uric acid levels

scientific article published on 28 November 2019

Endogenous retroviruses drive KRAB zinc-finger protein family expression for tumor suppression

scientific article published on 21 October 2020

Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome

artículo científico publicado en 2018

Exome sequencing identifies novel rheumatoid arthritis-susceptible variants in the BTNL2.

artículo científico publicado en 2013

Exploration of intermediate-sized INDELs by next-generation multigene panel testing in Han Chinese patients with breast cancer

scientific article published on 29 October 2019

GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes

artículo científico publicado en 2016

Gene expression profiling reveals distinct molecular signatures associated with the rupture of intracranial aneurysm

artículo científico publicado en 2014

Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population

artículo científico publicado en 2019

Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes

artículo científico publicado en 2015

Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout

scientific article published on 8 July 2019

Genome-wide association study to identify genetic variants present in Japanese patients harboring intracranial aneurysms

artículo científico publicado en 2010

Germline Variants of Prostate Cancer in Japanese Families.

artículo científico publicado en 2016

Germline and somatic mutations of homologous recombination-associated genes in Japanese ovarian cancer patients

scientific article published on 28 November 2019

Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors

scientific article published on 07 February 2020

HLA-B*39:01:01 is a novel risk factor for antithyroid drug-induced agranulocytosis in Japanese population

scientific article published on 22 September 2020

HLA-DPB1*04:01 allele is associated with non-obstructive azoospermia in Japanese patients

artículo científico publicado en 2013

High Order Formation and Evolution of Hornerin in Primates

scientific article published on 01 December 2018

IGF1 gene is epigenetically activated in preterm infants with intrauterine growth restriction

scientific article published on 16 July 2020

Identification of ancient viruses from metagenomic data of the Jomon people

artículo científico publicado en 2020

Identification of independent risk loci for Graves' disease within the MHC in the Japanese population

artículo científico publicado en 2011

Identification of novel exonic mobile element insertions in epithelial ovarian cancers

artículo científico publicado en 2015

Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus.

artículo científico publicado en 2016

Improvement of pronuclear injection-based targeted transgenesis (PITT) by iCre mRNA-mediated site-specific recombination

artículo científico publicado en 2013

Long non-coding RNA p10247, high expressed in breast cancer (lncRNA-BCHE), is correlated with metastasis

artículo científico publicado en 2018

Meta-analysis of genetic association studies: methodologies, between-study heterogeneity and winner's curse

artículo científico publicado en 2009

Microsatellite scanning of the immunogenome associates MAPK14 and ELTD1 with graft-versus-host disease in hematopoietic stem cell transplantation

artículo científico publicado en 2013

Molecular characterization of an intact p53 pathway subtype in high-grade serous ovarian cancer

artículo científico publicado en 2014

Multiple common and rare variants of ABCG2 cause gout

artículo científico publicado en 2017

Next generation sequencing: implications in personalized medicine and pharmacogenomics

artículo científico publicado en 2016

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

artículo científico

Novel MXD4-NUTM1 fusion transcript identified in primary ovarian undifferentiated small round cell sarcoma

artículo científico publicado en 2018

Novel therapeutic strategy for cervical cancer harboring FGFR3-TACC3 fusions

artículo científico publicado en 2018

Phase-defined complete sequencing of the HLA genes by next-generation sequencing

artículo científico publicado en 2013

Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2.

artículo científico publicado en 2017

Selective breeding and selection mapping using a novel wild-derived heterogeneous stock of mice revealed two closely-linked loci for tameness.

artículo científico publicado en 2017

Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms

artículo científico publicado en 2016

Single nucleotide polymorphisms and outcome risk in unrelated mismatched hematopoietic stem cell transplantation: an exploration study

artículo científico publicado en 2012

Spatiotemporal dynamics of clonal selection and diversification in normal endometrial epithelium

artículo científico publicado en 2022

Structure and evolution of the filaggrin gene repeated region in primates

artículo científico publicado en 2017

Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients

artículo científico publicado en 2020

Systematic identification and characterization of regulatory elements derived from human endogenous retroviruses.

artículo científico publicado en 2017

TRIM39 and RNF39 are associated with Behçet's disease independently of HLA-B∗51 and -A∗26

scientific article published on 27 September 2010

Targeted transgenesis through pronuclear injection of improved vectors into in vitro fertilized eggs

artículo científico publicado en 2011

The Relationship between TP53 Gene Status and Carboxylesterase 2 Expression in Human Colorectal Cancer.

artículo científico publicado en 2018

The auxin-inducible degron 2 technology provides sharp degradation control in yeast, mammalian cells, and mice

artículo científico publicado en 2020

XCL1 expression correlates with CD8-positive T cells infiltration and PD-L1 expression in squamous cell carcinoma arising from mature cystic teratoma of the ovary

artículo científico publicado en 2020

[Genome informatics]

scientific article published on 01 August 2010

Lista de obras de

A genome-wide association study of third molar agenesis in Japanese and Korean populations

A nonsynonymous variant of IL1A is associated with endometriosis in Japanese population

A systems genetics approach provides a bridge from discovered genetic variants to biological pathways in rheumatoid arthritis

ABCG2 dysfunction causes hyperuricemia due to both renal urate underexcretion and renal urate overload

APOBEC: A molecular driver in cervical cancer pathogenesis

ARID1A protein expression is retained in ovarian endometriosis with ARID1A loss-of-function mutations: implication for the two-hit hypothesis

Aggregation of rare/low-frequency variants of the mitochondria respiratory chain-related proteins in rheumatoid arthritis patients.

Allelic Imbalance in Regulation of ANRIL through Chromatin Interaction at 9p21 Endometriosis Risk Locus

Assessment of Artificial MiRNA Architectures for Higher Knockdown Efficiencies without the Undesired Effects in Mice

Clonal Expansion and Diversification of Cancer-Associated Mutations in Endometriosis and Normal Endometrium

Clonal lineage from normal endometrium to ovarian clear cell carcinoma through ovarian endometriosis

Combined Change of Behavioral Traits for Domestication and Gene-Networks in Mice Selectively Bred for Active Tameness

Common dysfunctional variants of ABCG2 have stronger impact on hyperuricemia progression than typical environmental risk factors

Common variant of BCAS3 is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese.

Comprehensive discovery of CRISPR-targeted terminally redundant sequences in the human gut metagenome: Viruses, plasmids, and more

Comprehensive genetic exploration of selective tooth agenesis of mandibular incisors by exome sequencing.

Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel

Concurrent isolated retroperitoneal HGSC and STIC defined by somatic mutation analysis: a case report

Detection of ancestry informative HLA alleles confirms the admixed origins of Japanese population.

Different mutation profiles between epithelium and stroma in endometriosis and normal endometrium

Differential effects of chromosome 9p21 variation on subphenotypes of intracranial aneurysm: site distribution

Distribution of HLA haplotypes across Japanese Archipelago: similarity, difference and admixture

Dysfunctional missense variant of OAT10/SLC22A13 decreases gout risk and serum uric acid levels

Endogenous retroviruses drive KRAB zinc-finger protein family expression for tumor suppression

Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome

Exome sequencing identifies novel rheumatoid arthritis-susceptible variants in the BTNL2.

Exploration of intermediate-sized INDELs by next-generation multigene panel testing in Han Chinese patients with breast cancer

GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes

Gene expression profiling reveals distinct molecular signatures associated with the rupture of intracranial aneurysm

Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population

Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes

Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout

Genome-wide association study to identify genetic variants present in Japanese patients harboring intracranial aneurysms

Germline Variants of Prostate Cancer in Japanese Families.

Germline and somatic mutations of homologous recombination-associated genes in Japanese ovarian cancer patients

Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors

HLA-B*39:01:01 is a novel risk factor for antithyroid drug-induced agranulocytosis in Japanese population

HLA-DPB1*04:01 allele is associated with non-obstructive azoospermia in Japanese patients

High Order Formation and Evolution of Hornerin in Primates

IGF1 gene is epigenetically activated in preterm infants with intrauterine growth restriction

Identification of ancient viruses from metagenomic data of the Jomon people

Identification of independent risk loci for Graves' disease within the MHC in the Japanese population

Identification of novel exonic mobile element insertions in epithelial ovarian cancers

Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus.

Improvement of pronuclear injection-based targeted transgenesis (PITT) by iCre mRNA-mediated site-specific recombination

Long non-coding RNA p10247, high expressed in breast cancer (lncRNA-BCHE), is correlated with metastasis

Meta-analysis of genetic association studies: methodologies, between-study heterogeneity and winner's curse

Microsatellite scanning of the immunogenome associates MAPK14 and ELTD1 with graft-versus-host disease in hematopoietic stem cell transplantation

Molecular characterization of an intact p53 pathway subtype in high-grade serous ovarian cancer

Multiple common and rare variants of ABCG2 cause gout

Next generation sequencing: implications in personalized medicine and pharmacogenomics

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

Novel MXD4-NUTM1 fusion transcript identified in primary ovarian undifferentiated small round cell sarcoma

Novel therapeutic strategy for cervical cancer harboring FGFR3-TACC3 fusions

Phase-defined complete sequencing of the HLA genes by next-generation sequencing

Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2.

Selective breeding and selection mapping using a novel wild-derived heterogeneous stock of mice revealed two closely-linked loci for tameness.

Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms

Single nucleotide polymorphisms and outcome risk in unrelated mismatched hematopoietic stem cell transplantation: an exploration study

Spatiotemporal dynamics of clonal selection and diversification in normal endometrial epithelium

Structure and evolution of the filaggrin gene repeated region in primates

Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients

Systematic identification and characterization of regulatory elements derived from human endogenous retroviruses.

TRIM39 and RNF39 are associated with Behçet's disease independently of HLA-B∗51 and -A∗26

Targeted transgenesis through pronuclear injection of improved vectors into in vitro fertilized eggs

The Relationship between TP53 Gene Status and Carboxylesterase 2 Expression in Human Colorectal Cancer.

The auxin-inducible degron 2 technology provides sharp degradation control in yeast, mammalian cells, and mice

XCL1 expression correlates with CD8-positive T cells infiltration and PD-L1 expression in squamous cell carcinoma arising from mature cystic teratoma of the ovary

[Genome informatics]