Germline Susceptibility to Renal Cell Carcinoma and Implications for Genetic Screening
Glennon K. I., Endo M., Usui Y., Iwasaki Y., Breau R. H., Kapoor A., et al.; JCO Precis Oncol 8:e2400094, 2024
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Cancer and disease profiles for PTEN pathogenic variants in Japanese population
Kanazashi Y., Usui Y., Iwasaki Y., Sasagawa S., Endo M., Yamaguchi M., et al.; J Hum Genet 70:135–140, 2024
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Increased susceptibility to Mycobacterium avium complex infection in miniature Schnauzer dogs caused by a codon deletion in CARD9
Mizukami K., Dorsey-Oresto A., Raj K., Eringis A., Furrow E., Martin E., et al.; Sci Rep 14:10346, 2024
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Genetic drivers and cellular selection of female mosaic X chromosome loss
Liu A., Genovese G., Zhao Y., Pirinen M., Zekavat S. M., Kentistou K. A., et al.; Nature 631:134-141, 2024
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RNF213 Variants, Vasospastic Angina, and Risk of Fatal Myocardial Infarction
Hikino K., Koyama S., Ito K., Koike Y., Koido M., Matsumura T., et al.; JAMA Cardiol 9:723-731, 2024
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Population-specific putative causal variants shape quantitative traits
Koyama S., Liu X., Koike Y., Hikino K., Koido M., Li W., et al.; Nat Genet 56:2027-2035, 2024
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BioBankJapan PressRelease
(Not So) Lost in Translation: Considering the GA4GH Diversity in Datasets Policy in the Japanese Context
Sato M., Muto K., Momozawa Y., Joly Y. ; Asian Bioeth Rev 17:59–72, 2024
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GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcgamma receptor region
Ishikawa Y., Tanaka N., Asano Y., Kodera M., Shirai Y., Akahoshi M., et al.; Nat Commun 15:319, 2024
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BMI and cardiometabolic traits in Japanese: a Mendelian randomization study
Nagayoshi M., Hishida A., Shimizu T., Kato Y., Kubo Y., Okada R., et al.; J Epidemiol 34(2):51-62, 2024
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Evaluation of the usefulness of plasma 4beta-hydroxycholesterol concentration normalized by 4alpha-hydroxycholesterol for accurate CYP3A phenotyping
Oda A., Suzuki Y., Sato H., Koyama T., Nakatochi M., Momozawa Y., et al.; Clin Transl Sci 17(3):e13768, 2024
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Interaction between Habitual Green Tea and Coffee Consumption and ACTN3 Genotype in Association with Skeletal Muscle Mass and Strength in Middle-Aged and Older Adults
Iwasaka C., Nanri H., Hara M., Nishida Y., Shimanoe C., Yamada Y., et al.; J Frailty Aging, 2024
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Clinical features and impact of p53 status on sporadic mismatch repair deficiency and Lynch syndrome in uterine cancer
Kato M. K., Fujii E., Asami Y., Momozawa Y., Hiranuma K., Komatsu M., et al.; Cancer Sci, 2024
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Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases
Goto K., Koyanagi Y., Akiyama M., Murakami Y., Fukushima M., Fujiwara K., et al.; J Med Genet, 2024
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Genome-wide assessment of genetic risk loci for childhood acute lymphoblastic leukemia in Japanese patients
Hangai M., Kawaguchi T., Takagi M., Matsuo K., Jeon S., Chiang C. W. K., et al.; Haematologica 109(4), 2024
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Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population
Furuta Y., Akiyama M., Hirabayashi N., Honda T., Shibata M., Ohara T., et al.; NPJ Genom Med 9(1):59, 2024
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Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing
Liu X., Koyama S., Tomizuka K., Takata S., Ishikawa Y., Ito S., et al.; Sci Adv 10:eadi8419, 2024
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RIKEN PressRelease
Development of an umbilical cord blood transplantation-specific nonrelapse mortality risk assessment score
Okada Y., Usui Y., Hayashi H., Nishikubo M., Toubai T., Uchida N., et al.; Blood Adv 8:1359-1368, 2024
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A genome-wide association study identifies a locus associated with knee extension strength in older Japanese individuals
Ito S., Takuwa H., Kakehi S., Someya Y., Kaga H., Kumahashi N., et al.; Commun Biol 7(1):513, 2024
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GWAS meta-analysis of kidney function traits in Japanese populations
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GWAS of Folate Metabolism With Gene-environment Interaction Analysis Revealed the Possible Role of Lifestyles in the Control of Blood Folate Metabolites in Japanese: The J-MICC Study
Tsukamoto M., Hishida A., Tamura T., Nagayoshi M., Okada R., Kubo Y., et al.; J Epidemiol 34:228-237, 2024
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Investigation of the mutations in the genes involved in Janus kinase/signal transducer and activator of transcription pathway in canine large cell gastrointestinal lymphoma
Tsuruta T., Matsumura N., Mizukami K., Goto-Koshino Y., Aoi T., Yamada R., et al.; J Vet Med Sci 86(10):1052–1055, 2024
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Polygenic risk score and lung adenocarcinoma risk among never-smokers by EGFR mutation status-a brief report
Blechter B., Hsiung C. A., Wang X., Zhang H., Seow W. J., Shi J., et al.; J Thorac Oncol 20(4):521-530, 2024
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Polygenic risk score for blood pressure and lifestyle factors with overall and CVD mortality: a prospective cohort study in a Japanese population
Fujii R., Hishida A., Nakatochi M., Okumiyama H., Takashima N., Tsuboi Y., et al.; Hypertens Res 47(9):2284-2294, 2024
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Prevalence and outcomes of germline pathogenic variants of homologous recombination repair genes in ovarian cancer
Miwa M., Kitagawa M., Asami Y., Kobayashi-Kato M., Watanabe T., Ogasawara A., et al.; Cancer Sci 115:3952-3962, 2024
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