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Recent advances in RASopathies

Journal of human genetics, 2016-01, Vol.61 (1), p.33-39

2016

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LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases

Cell death and differentiation, 2020-03, Vol.27 (3), p.1023-1035

2020

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The molecular genetics of RASopathies: An update on novel disease genes and new disorders

American journal of medical genetics. Part C, Seminars in medical genetics, 2022-12, Vol.190 (4), p.425-439

2022

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Human genetic variation database, a reference database of genetic variations in the Japanese population

Journal of human genetics, 2016-06, Vol.61 (6), p.547-553

2016

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A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham–Stout disease

Journal of human genetics, 2020-11, Vol.65 (11), p.995-1001

2020

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Isolation of Human Coronaviruses OC43, HKU1, NL63, and 229E in Yamagata, Japan, Using Primary Human Airway Epithelium Cells Cultured by Employing an Air-Liquid Interface Culture

Japanese Journal of Infectious Diseases, 2021/07/31, Vol.74(4), pp.285-292

2021

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Ras/MAPK syndromes and childhood hemato-oncological diseases

International journal of hematology, 2013-01, Vol.97 (1), p.30-36

2013

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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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Epidemiology of Coronavirus Disease 2019 in Yamagata Prefecture, Japan, January–May 2020: the Importance of Retrospective Contact Tracing

Japanese Journal of Infectious Diseases, 2021/11/22, Vol.74(6), pp.522-529

2021

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Proposal for the Recognition of a New Disease Concept from Japan: Parechovirus A3-Associated Myalgia

Japanese Journal of Infectious Diseases, 2021/07/31, Vol.74(4), pp.259-272

2021

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Seasonality of Human Coronavirus OC43, NL63, HKU1, and 229E Infection in Yamagata, Japan, 2010–2019

Japanese Journal of Infectious Diseases, 2020/09/30, Vol.73(5), pp.394-397

2020

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The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain

Human mutation, 2020-09, Vol.41 (9), p.1540-1554

2020

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Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis

Neurobiology of aging, 2017-05, Vol.53, p.194.e1-194.e8

2017

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Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

American journal of human genetics, 2013-07, Vol.93 (1), p.173-180

2013

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A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy

Journal of human genetics, 2021-10, Vol.66 (10), p.965-972

2021

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Seroprevalence of parechovirus A1, A3 and A4 antibodies in Yamagata, Japan, between 1976 and 2017

Journal of medical microbiology, 2020-12, Vol.69 (12), p.1381-1387

2020

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Detection of the Human Coronavirus 229E, HKU1, NL63, and OC43 between 2010 and 2013 in Yamagata, Japan

Japanese Journal of Infectious Diseases, 2015, Vol.68(2), pp.138-141

2015

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A seroepidemiologic study of a measles outbreak, Yamagata Prefecture, Japan, 2017: The estimation of spreaders using serological assays in a measles elimination setting

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy, 2022-07, Vol.28 (7), p.1018-1022

2022

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Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

Nature communications, 2021-04, Vol.12 (1), p.2028-2028, Article 2028

2021

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Longitudinal Epidemiology of Viral Infectious Diseases Combining Virus Isolation, Antigenic Analysis, and Phylogenetic Analysis as Well as Seroepidemiology in Yamagata, Japan, between 1999 and 2018

Japanese Journal of Infectious Diseases, 2019, Vol.72(4), pp.211-223

2019

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Seroepidemiology of human parechovirus types 1, 3, and 6 in Yamagata, Japan, in 2014

Microbiology and immunology, 2016-12, Vol.60 (12), p.854-858

2016

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Biallelic GALM pathogenic variants cause a novel type of galactosemia

Genetics in medicine, 2019-06, Vol.21 (6), p.1286-1294

2019

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Longitudinal epidemiology of human coronavirus OC43 in Yamagata, Japan, 2010–2017: Two groups based on spike gene appear one after another

Journal of medical virology, 2021-02, Vol.93 (2), p.945-951

2021

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Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey

Journal of human genetics, 2022-10, Vol.67 (10), p.557-563

2022

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Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis

Orphanet journal of rare diseases, 2019-09, Vol.14 (1), p.215-215, Article 215

2019

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Recent advances in RASopathies

LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases

The molecular genetics of RASopathies: An update on novel disease genes and new disorders

Human genetic variation database, a reference database of genetic variations in the Japanese population

A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham–Stout disease

Isolation of Human Coronaviruses OC43, HKU1, NL63, and 229E in Yamagata, Japan, Using Primary Human Airway Epithelium Cells Cultured by Employing an Air-Liquid Interface Culture

Ras/MAPK syndromes and childhood hemato-oncological diseases

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

Epidemiology of Coronavirus Disease 2019 in Yamagata Prefecture, Japan, January–May 2020: the Importance of Retrospective Contact Tracing

Proposal for the Recognition of a New Disease Concept from Japan: Parechovirus A3-Associated Myalgia

Seasonality of Human Coronavirus OC43, NL63, HKU1, and 229E Infection in Yamagata, Japan, 2010–2019

The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy

Seroprevalence of parechovirus A1, A3 and A4 antibodies in Yamagata, Japan, between 1976 and 2017

Detection of the Human Coronavirus 229E, HKU1, NL63, and OC43 between 2010 and 2013 in Yamagata, Japan

A seroepidemiologic study of a measles outbreak, Yamagata Prefecture, Japan, 2017: The estimation of spreaders using serological assays in a measles elimination setting

Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

Longitudinal Epidemiology of Viral Infectious Diseases Combining Virus Isolation, Antigenic Analysis, and Phylogenetic Analysis as Well as Seroepidemiology in Yamagata, Japan, between 1999 and 2018

Seroepidemiology of human parechovirus types 1, 3, and 6 in Yamagata, Japan, in 2014

Biallelic GALM pathogenic variants cause a novel type of galactosemia

Longitudinal epidemiology of human coronavirus OC43 in Yamagata, Japan, 2010–2017: Two groups based on spike gene appear one after another

Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey

Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis

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