Ituro Inoue

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

Annals of the rheumatic diseases, 79(1) 164-166, Jan, 2020  Peer-reviewed

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

Scientific reports, 9(1) 17808-17808, Nov 28, 2019  Peer-reviewed

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

Annals of the rheumatic diseases, 78(10) 1430-1437, Oct, 2019  Peer-reviewed

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

Human reproduction (Oxford, England), 34(10) 1899-1905, Oct, 2019  Peer-reviewed

Next-generation sequencing identifies contribution of both class I and II HLA genes on susceptibility of multiple sclerosis in Japanese. 

Journal of neuroinflammation, 16(1) 162-162, Aug 5, 2019  Peer-reviewed

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

Nature genetics, 51(3) 470-480, Mar, 2019  Peer-reviewed

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

Diagnostic pathology, 14(1) 17-17, Feb, 2019  Peer-reviewed

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

Human genome variation, 6 51-51, 2019  Peer-reviewed

High Order Formation and Evolution of Hornerin in Primates. 

Genome biology and evolution, 10(12) 3167-3175, Dec 1, 2018  Peer-reviewed

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

Genes, chromosomes & cancer, 57(11) 557-563, Nov, 2018  Peer-reviewed

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

Cell reports, 24(7) 1777-1789, Aug 14, 2018  Peer-reviewed

No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY. 

Journal of human genetics, 63(7) 821-829, Jul, 2018  Peer-reviewed

Novel therapeutic strategy for cervical cancer harboring FGFR3-TACC3 fusions. 

Oncogenesis, 7(1) 4-4, Jan 23, 2018  Peer-reviewed

The relationship between TP53 gene status and carboxylesterase 2 expression in human colorectal cancer 

Disease Markers, 2018 5280736, 2018  Peer-reviewed

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

Human genome variation, 5 27-27, 2018  Peer-reviewed

Comprehensive microbiome analysis of tonsillar crypts in IgA nephropathy. 

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 32(12) 2072-2079, Dec 1, 2017  Peer-reviewed

Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung's disease. 

Pediatric surgery international, 33(10) 1041-1046, Oct, 2017  Peer-reviewed

AMBRA1 is involved in T cell receptor-mediated metabolic reprogramming through an ATG7-independent pathway. 

Biochemical and biophysical research communications, 491(4) 1098-1104, Sep 30, 2017  Peer-reviewed

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

PLoS genetics, 13(7) e1006883, Jul, 2017  Peer-reviewed