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List of works by Hirofumi Nakaoka

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

scientific article published on 2 May 2013

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

scientific article

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

scientific article published on 20 January 2014

APOBEC: A molecular driver in cervical cancer pathogenesis

scientific article published on 07 October 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.

scientific article published on 28 May 2015

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

scientific article

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

scientific article published on 18 August 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

scientific article published on 13 December 2020

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

scientific article published on 09 June 2014

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

scientific article

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

scientific article published on 21 October 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

scientific article published on 26 February 2016

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

scientific article published on 11 February 2019

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

scientific article

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

scientific article published in July 2010

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

scientific article published on 23 July 2015

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

scientific article published on 27 September 2018

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

scientific article published on 31 January 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

scientific article published on 29 November 2016

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

scientific article published on 17 June 2014

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

scientific article published on 28 January 2019

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

scientific article published on 2 February 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

scientific article published on 08 July 2010

Germline Variants of Prostate Cancer in Japanese Families.

scientific article

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

scientific article published on 10 August 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

scientific article published on 30 September 2020

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

scientific article published on 08 September 2011

Identification of novel exonic mobile element insertions in epithelial ovarian cancers

scientific article published on October 2015

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

scientific article

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

scientific article published on 26 March 2013

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

scientific article published on 01 March 2018

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

scientific article published on 23 October 2009

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

scientific article

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

scientific article published on 2 December 2014

Multiple common and rare variants of ABCG2 cause gout

scientific article published on 29 August 2017

Next generation sequencing: implications in personalized medicine and pharmacogenomics

scientific article published on 12 April 2016

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

scientific article published on 26 July 2012

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

scientific article published on 01 November 2018

Novel therapeutic strategy for cervical cancer harboring FGFR3-TACC3 fusions

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 14 July 2016

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

scientific article

Spatiotemporal dynamics of clonal selection and diversification in normal endometrial epithelium

scientific article published on 17 February 2022

Structure and evolution of the filaggrin gene repeated region in primates

scientific article

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

scientific article published on 1 April 2020

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

scientific article published on 12 July 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

scientific article published on 25 March 2011

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

scientific article published on 31 January 2018

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

scientific article published on 11 November 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

scientific article published on 02 March 2020

[Genome informatics]

scientific article published on 01 August 2010

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