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A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

Journal of human genetics, 2011-01, Vol.56 (1), p.34-40

2011

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Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference

Nature communications, 2021-01, Vol.12 (1), p.226-226, Article 226

2021

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Gut microbiome-derived phenyl sulfate contributes to albuminuria in diabetic kidney disease

Nature communications, 2019-04, Vol.10 (1), p.1835-17, Article 1835

2019

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Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

Nature communications, 2015-08, Vol.6 (1), p.8018-8018, Article 8018

2015

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COVID-19 transmission in group living environments and households

Scientific reports, 2021-06, Vol.11 (1), p.11616-11616, Article 11616

2021

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Impacts of the urinary sodium-to-potassium ratio, sleep efficiency, and conventional risk factors on home hypertension in a general Japanese population

Hypertension research, 2021-07, Vol.44 (7), p.858-865

2021

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Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency

Journal of human genetics, 2019-02, Vol.64 (2), p.67-71

2019

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Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing

The Journal of pediatrics, 2016-04, Vol.171, p.171-177.e4

2016

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Successful use of an artificial placenta to support extremely preterm ovine fetuses at the border of viability

American journal of obstetrics and gynecology, 2019-07, Vol.221 (1), p.69.e1-69.e17

2019

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Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant

Brain & development (Tokyo. 1979), 2021-05, Vol.43 (5), p.652-656

2021

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Beneficial Effects of Systemically Administered Human Muse Cells in Adriamycin Nephropathy

Journal of the American Society of Nephrology, 2017-10, Vol.28 (10), p.2946-2960

2017

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Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation

International journal of hematology, 2020-08, Vol.112 (2), p.258-262

2020

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Two Distinct Cases of Adult-onset Kawasaki Disease

Internal Medicine, 2022/12/01, Vol.61(23), pp.3525-3529

2022

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Enhanced post-ischemic angiogenesis in mice lacking RNF213 ; a susceptibility gene for moyamoya disease

Brain research, 2015-01, Vol.1594, p.310-320

2015

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Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.838-846

2021

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GATA2 haploinsufficiency accelerates EVI1-driven leukemogenesis

Blood, 2017-08, Vol.130 (7), p.908-919

2017

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Study Profile of the Tohoku Medical Megabank Community-Based Cohort Study

Journal of epidemiology, 2021-01, Vol.31 (1), p.65-76

2021

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Attachment Disorder and Early Media Exposure: Neurobehavioral symptoms mimicking autism spectrum disorder

The Journal of Medical Investigation, 2018, Vol.65(3.4), pp.280-282

2018

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Germline mutations in HRAS proto-oncogene cause Costello syndrome

Nature genetics, 2005-10, Vol.37 (10), p.1038-1040

2005

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Refractory T-cell/histiocyte-rich large B-cell lymphoma in a patient with ataxia–telangiectasia caused by novel compound heterozygous variants in ATM

International journal of hematology, 2021-12, Vol.114 (6), p.735-741

2021

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Hypertensive disorders of pregnancy, obesity, and hypertension in later life by age group: a cross-sectional analysis

Hypertension research, 2020-11, Vol.43 (11), p.1277-1283

2020

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Multiple measurements of the urinary sodium-to-potassium ratio strongly related home hypertension: TMM Cohort Study

Hypertension research, 2020-01, Vol.43 (1), p.62-71

2020

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The guanylate cyclase C agonist linaclotide ameliorates the gut–cardio–renal axis in an adenine-induced mouse model of chronic kidney disease

Nephrology, dialysis, transplantation, 2020-02, Vol.35 (2), p.250-264

2020

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A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome

Journal of human genetics, 2017-06, Vol.62 (6), p.653-655

2017

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A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference

Gut microbiome-derived phenyl sulfate contributes to albuminuria in diabetic kidney disease

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

COVID-19 transmission in group living environments and households

Impacts of the urinary sodium-to-potassium ratio, sleep efficiency, and conventional risk factors on home hypertension in a general Japanese population

Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency

Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing

Successful use of an artificial placenta to support extremely preterm ovine fetuses at the border of viability

Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant

Beneficial Effects of Systemically Administered Human Muse Cells in Adriamycin Nephropathy

Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation

Two Distinct Cases of Adult-onset Kawasaki Disease

Enhanced post-ischemic angiogenesis in mice lacking RNF213 ; a susceptibility gene for moyamoya disease

Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age

GATA2 haploinsufficiency accelerates EVI1-driven leukemogenesis

Study Profile of the Tohoku Medical Megabank Community-Based Cohort Study

Attachment Disorder and Early Media Exposure: Neurobehavioral symptoms mimicking autism spectrum disorder

Germline mutations in HRAS proto-oncogene cause Costello syndrome

Refractory T-cell/histiocyte-rich large B-cell lymphoma in a patient with ataxia–telangiectasia caused by novel compound heterozygous variants in ATM

Hypertensive disorders of pregnancy, obesity, and hypertension in later life by age group: a cross-sectional analysis

Multiple measurements of the urinary sodium-to-potassium ratio strongly related home hypertension: TMM Cohort Study

The guanylate cyclase C agonist linaclotide ameliorates the gut–cardio–renal axis in an adenine-induced mouse model of chronic kidney disease

Consideration of the reference value and number of measurements of the urinary sodium-to-potassium ratio based on the prevalence of untreated home hypertension: TMM Cohort Study

A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome

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