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From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R

Journal of human genetics, 2021-12, Vol.66 (12), p.1139-1144

2021

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TRPV1 alleviates osteoarthritis by inhibiting M1 macrophage polarization via Ca2+/CaMKII/Nrf2 signaling pathway

Cell death & disease, 2021-05, Vol.12 (6), p.1-14, Article 504

2021

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Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases

Nature genetics, 2018-03, Vol.50 (3), p.390-400

2018

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Expression, regulation and function of asporin, a susceptibility gene in common bone and joint diseases

Current medicinal chemistry, 2008-03, Vol.15 (7), p.724

Ikegawa, Shiro

2008

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Genomic study of ossification of the posterior longitudinal ligament of the spine

Proceedings of the Japan Academy, Series B, 2014/12/11, Vol.90(10), pp.405-412

IKEGAWA, Shiro

2014

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Human Genetic Disorders Caused by Mutations in Genes Encoding Biosynthetic Enzymes for Sulfated Glycosaminoglycans

The Journal of biological chemistry, 2013-04, Vol.288 (16), p.10953-10961

2013

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Genome-wide association study identifies 112 new loci for body mass index in the Japanese population

Nature genetics, 2017-10, Vol.49 (10), p.1458-1467

2017

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Genomic study of adolescent idiopathic scoliosis in Japan

Scoliosis and spinal disorders, 2016-04, Vol.11 (1), p.5-5, Article 5

Ikegawa, Shiro

2016

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Genetic disorders associated with the RANKL/OPG/RANK pathway

Journal of bone and mineral metabolism, 2021, Vol.39 (1), p.45-53

2021

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Eight novel susceptibility loci and putative causal variants in atopic dermatitis

Journal of allergy and clinical immunology, 2021-11, Vol.148 (5), p.1293-1306

2021

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Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

Journal of human genetics, 2017-08, Vol.62 (8), p.797-801

2017

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Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction

Journal of human genetics, 2006-12, Vol.51 (12), p.1087-1099

2006

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The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins

Journal of human genetics, 2021-04, Vol.66 (4), p.371-377

2021

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Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

Journal of human genetics, 2017-04, Vol.62 (4), p.503-506

2017

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Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

Nature communications, 2021-04, Vol.12 (1), p.2046-2046, Article 2046

2021

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SLC4A2 Deficiency Causes a New Type of Osteopetrosis

Journal of bone and mineral research, 2022-02, Vol.37 (2), p.226-235

2022

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Follistatin-like 1 (Fstl1) is a bone morphogenetic protein (BMP) 4 signaling antagonist in controlling mouse lung development

Proceedings of the National Academy of Sciences - PNAS, 2011-04, Vol.108 (17), p.7058-7063

2011

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Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer

Journal of human genetics, 2022-03, Vol.67 (3), p.149-156

2022

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CDC5L promotes early chondrocyte differentiation and proliferation by modulating pre-mRNA splicing of SOX9, COL2A1, and WEE1

The Journal of biological chemistry, 2021-08, Vol.297 (2), p.100994-100994, Article 100994

2021

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Improved genetic prediction of the risk of knee osteoarthritis using the risk factor-based polygenic score

Arthritis research & therapy, 2023-06, Vol.25 (1), p.103-103, Article 103

2023

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Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia

Journal of human genetics, 2017-03, Vol.62 (3), p.437-441

2017

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De novo SOX11 mutations cause Coffin-Siris syndrome

Nature communications, 2014-06, Vol.5 (1), p.4011-4011, Article 4011

2014

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Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis

Journal of human genetics, 2021-06, Vol.66 (6), p.607-611

2021

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Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine

American journal of human genetics, 2016-07, Vol.99 (1), p.202-207

2016

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From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R

TRPV1 alleviates osteoarthritis by inhibiting M1 macrophage polarization via Ca2+/CaMKII/Nrf2 signaling pathway

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases

Expression, regulation and function of asporin, a susceptibility gene in common bone and joint diseases

Genomic study of ossification of the posterior longitudinal ligament of the spine

Human Genetic Disorders Caused by Mutations in Genes Encoding Biosynthetic Enzymes for Sulfated Glycosaminoglycans

Genome-wide association study identifies 112 new loci for body mass index in the Japanese population

Genomic study of adolescent idiopathic scoliosis in Japan

Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population

Genetic disorders associated with the RANKL/OPG/RANK pathway

Eight novel susceptibility loci and putative causal variants in atopic dermatitis

Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction

The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

SLC4A2 Deficiency Causes a New Type of Osteopetrosis

Follistatin-like 1 (Fstl1) is a bone morphogenetic protein (BMP) 4 signaling antagonist in controlling mouse lung development

Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer

CDC5L promotes early chondrocyte differentiation and proliferation by modulating pre-mRNA splicing of SOX9, COL2A1, and WEE1

Improved genetic prediction of the risk of knee osteoarthritis using the risk factor-based polygenic score

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia

De novo SOX11 mutations cause Coffin-Siris syndrome

Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis

Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine

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