Shiro Ikegawa

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Publications in SciGraph latest 50 shown

  • 2021-10-21 Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer in JOURNAL OF HUMAN GENETICS
  • 2021-06-22 A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report in CALCIFIED TISSUE INTERNATIONAL
  • 2021-06-16 From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R in JOURNAL OF HUMAN GENETICS
  • 2021-05-18 TRPV1 alleviates osteoarthritis by inhibiting M1 macrophage polarization via Ca2+/CaMKII/Nrf2 signaling pathway in CELL DEATH & DISEASE
  • 2021-04-06 Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling in NATURE COMMUNICATIONS
  • 2021-01-06 Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis in JOURNAL OF HUMAN GENETICS
  • 2020-10-09 The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins in JOURNAL OF HUMAN GENETICS
  • 2020-09-23 A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis in COMMUNICATIONS BIOLOGY
  • 2020-09-17 Genetic disorders associated with the RANKL/OPG/RANK pathway in JOURNAL OF BONE AND MINERAL METABOLISM
  • 2020-06-08 Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases in NATURE GENETICS
  • 2020-05-15 A Short History of the Genetic Study of OPLL in OPLL
  • 2020-04-01 Recapitulating the human segmentation clock with pluripotent stem cells in NATURE
  • 2020-03-09 Author Correction: Characterizing rare and low-frequency height-associated variants in the Japanese population in NATURE COMMUNICATIONS
  • 2020-01-20 GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits in NATURE HUMAN BEHAVIOUR
  • 2019-12-11 Identification of novel FBN1 variations implicated in congenital scoliosis in JOURNAL OF HUMAN GENETICS
  • 2019-11-27 Crim1C140S mutant mice reveal the importance of cysteine 140 in the internal region 1 of CRIM1 for its physiological functions in MAMMALIAN GENOME
  • 2019-09-27 Characterizing rare and low-frequency height-associated variants in the Japanese population in NATURE COMMUNICATIONS
  • 2019-08-15 Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese in NATURE COMMUNICATIONS
  • 2019-07-22 Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2) in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2019-03-25 GWAS of smoking behaviour in 165,436 Japanese people reveals seven new loci and shared genetic architecture in NATURE HUMAN BEHAVIOUR
  • 2019-02-21 A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis in JOURNAL OF HUMAN GENETICS
  • 2019-02-04 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population in NATURE GENETICS
  • 2019-01-14 TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model in GENETICS IN MEDICINE
  • 2018-12-10 Identification of novel LFNG mutations in spondylocostal dysostosis in JOURNAL OF HUMAN GENETICS
  • 2018-10-11 Emergence of Zebrafish as a Model System for Understanding Human Scoliosis in ZEBRAFISH, MEDAKA, AND OTHER SMALL FISHES
  • 2018-08-01 A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis in SCIENTIFIC REPORTS
  • 2018-07-17 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease in HUMAN GENETICS
  • 2018-06-13 Current Understanding of Genetic Factors in Idiopathic Scoliosis in THE GENETICS AND DEVELOPMENT OF SCOLIOSIS
  • 2018-06-08 Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification in JOURNAL OF HUMAN GENETICS
  • 2018-03-22 Dysosteosclerosis is also caused by TNFRSF11A mutation in JOURNAL OF HUMAN GENETICS
  • 2018-03-16 An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis in SCIENTIFIC REPORTS
  • 2018-02-07 Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report in BMC RESEARCH NOTES
  • 2018-02-05 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases in NATURE GENETICS
  • 2017-11-14 Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies in SCIENTIFIC REPORTS
  • 2017-11-08 Genome-wide Association Study of Idiopathic Osteonecrosis of the Femoral Head in SCIENTIFIC REPORTS
  • 2017-10-05 Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum in HUMAN GENOME VARIATION
  • 2017-09-11 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population in NATURE GENETICS
  • 2017-03-23 Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia in JOURNAL OF HUMAN GENETICS
  • 2017-01-26 Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations in JOURNAL OF HUMAN GENETICS
  • 2016-12-08 Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families in HUMAN GENOME VARIATION
  • 2016-11-24 Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2 in JOURNAL OF HUMAN GENETICS
  • 2016-11-10 Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia in JOURNAL OF HUMAN GENETICS
  • 2016-09-30 Identification of DNA methylation changes associated with disease progression in subchondral bone with site-matched cartilage in knee osteoarthritis in SCIENTIFIC REPORTS
  • 2016-06-13 Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India in SCIENTIFIC REPORTS
  • 2016-05-19 A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity in HUMAN GENOME VARIATION
  • 2016-04-01 Genomic study of adolescent idiopathic scoliosis in Japan in SCOLIOSIS AND SPINAL DISORDERS
  • 2015-09-17 A novel FOXC2 mutation in spinal extradural arachnoid cyst in HUMAN GENOME VARIATION
  • 2015-03-18 A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females in NATURE COMMUNICATIONS
  • 2015-01-19 rs11190870 is not associated with severity of adolescent idiopathic scoliosis in Japanese in SCOLIOSIS AND SPINAL DISORDERS
  • 2014-10-21 Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex in ORPHANET JOURNAL OF RARE DISEASES
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