List of works - Shirō Ikegawa

A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease

scientific article

A functional SNP in PSMA6 confers risk of myocardial infarction in the Japanese population

scientific article

A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation

scientific article

A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis

scientific article published on 23 September 2020

A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity

scientific article published on 19 May 2016

Allele-specific PCR amplification due to sequence identity between a PCR primer and an amplicon: is direct sequencing so reliable?

scientific article (publication date: June 2002)

An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis

scientific article

Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese population

scientific article (publication date: July 2002)

Association of single-nucleotide polymorphisms in RHOB and TXNDC3 with knee osteoarthritis susceptibility: two case-control studies in East Asian populations and a meta-analysis

scientific article published in 2008

Association of the aspartic acid-repeat polymorphism in the asporin gene with age at onset of knee osteoarthritis in Han Chinese population

scientific article

Association study of COL9A2 with lumbar disc disease in the Japanese population

scientific article

Author Correction: Characterizing rare and low-frequency height-associated variants in the Japanese population

scientific article published on 09 March 2020

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

scientific journal article

Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones

scientific article (publication date: 2002)

Characterizing rare and low-frequency height-associated variants in the Japanese population

scientific article published on 27 September 2019

Chondroitin sulfate N-acetylgalactosaminyltransferase-1 is required for normal cartilage development

scientific journal article

Cystatin 10, a novel chondrocyte-specific protein, may promote the last steps of the chondrocyte differentiation pathway

scientific journal article

De novo SOX11 mutations cause Coffin-Siris syndrome

scientific article (publication date: 2 June 2014)

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

scientific article published on 06 April 2021

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

scientific article

Ectopic expression of Ptf1a induces spinal defects, urogenital defects, and anorectal malformations in Danforth's short tail mice

scientific article

Efficient detection of copy-number variations using exome data: batch- and sex-based analyses

scientific article published on 01 November 2020

Expression and regulation of the osteoarthritis-associated protein asporin

scientific article (publication date: 2 November 2007)

Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 13q

scientific article

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

scientific article (publication date: 26 April 2011)

Functional Investigation of a Non-coding Variant Associated with Adolescent Idiopathic Scoliosis in Zebrafish: Elevated Expression of the Ladybird Homeobox Gene Causes Body Axis Deformation

scientific article (publication date: 2016)

GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits

scientific article published on 20 January 2020

Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis

scientific article

Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese

scientific article published on 15 August 2019

Genomic study of adolescent idiopathic scoliosis in Japan

scientific article

Identification and characterization of the human long form of Sox5 (L-SOX5) gene

scientific article (publication date: 18 September 2002)

Identification of RB1CC1, a novel human gene that can induce RB1 in various human cells

scientific article (publication date: 14 February 2002)

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.

scientific article

Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)

scientific article

Isolation, characterization and mapping of the mouse and human RB1CC1 genes

scientific article (publication date: 29 May 2002)

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

scientific article

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

scientific article published on 08 June 2020

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210

scientific journal article

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome

scientific article

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

scientific article

Mechanisms for asporin function and regulation in articular cartilage

scientific article

Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fracture

scientific journal article

Meta-analysis of association between the ASPN D-repeat and osteoarthritis

scientific article (publication date: 15 July 2007)

Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22

scientific article

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

scientific article published on 9 May 2013

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome

scientific article

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia

scientific article

Nucleotide Pyrophosphatase Gene Polymorphism Associated With Ossification of the Posterior Longitudinal Ligament of the Spine ⬇️

scientific article published on January 1, 2002

Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human

scientific journal article

PLAP-1/asporin, a novel negative regulator of periodontal ligament mineralization

scientific journal article

Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation

scientific article

Recapitulating the human segmentation clock with pluripotent stem cells

scientific article published on 01 April 2020

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

scientific article published on December 2011

Regulation of endoplasmic reticulum stress response by a BBF2H7-mediated Sec23a pathway is essential for chondrogenesis

scientific journal article

Replication of the association of the aspartic acid repeat polymorphism in the asporin gene with knee-osteoarthritis susceptibility in Han Chinese

scientific article

SIK3 is essential for chondrocyte hypertrophy during skeletal development in mice

scientific journal article

SMOC1 is essential for ocular and limb development in humans and mice

scientific article

SOX9-dependent and -independent transcriptional regulation of human cartilage link protein

scientific article

Shwachman-Diamond syndrome is associated with low-turnover osteoporosis

scientific article

Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation

scientific journal article

TRPV4-associated skeletal dysplasias

scientific article

TRPV4-pathy, a novel channelopathy affecting diverse systems

scientific article

The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

scientific article

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

scientific article published on 09 October 2020

The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways

scientific article

Truncating mutations of RB1CC1 in human breast cancer

scientific article (publication date: July 2002)

List of works by Shirō Ikegawa

A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease

A functional SNP in PSMA6 confers risk of myocardial infarction in the Japanese population

A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation

A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis

A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity

Allele-specific PCR amplification due to sequence identity between a PCR primer and an amplicon: is direct sequencing so reliable?

An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis

Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese population

Association of single-nucleotide polymorphisms in RHOB and TXNDC3 with knee osteoarthritis susceptibility: two case-control studies in East Asian populations and a meta-analysis

Association of the aspartic acid-repeat polymorphism in the asporin gene with age at onset of knee osteoarthritis in Han Chinese population

Association study of COL9A2 with lumbar disc disease in the Japanese population

Author Correction: Characterizing rare and low-frequency height-associated variants in the Japanese population

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones

Characterizing rare and low-frequency height-associated variants in the Japanese population

Chondroitin sulfate N-acetylgalactosaminyltransferase-1 is required for normal cartilage development

Cystatin 10, a novel chondrocyte-specific protein, may promote the last steps of the chondrocyte differentiation pathway

De novo SOX11 mutations cause Coffin-Siris syndrome

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

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

Ectopic expression of Ptf1a induces spinal defects, urogenital defects, and anorectal malformations in Danforth's short tail mice

Efficient detection of copy-number variations using exome data: batch- and sex-based analyses

Expression and regulation of the osteoarthritis-associated protein asporin

Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 13q

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

Functional Investigation of a Non-coding Variant Associated with Adolescent Idiopathic Scoliosis in Zebrafish: Elevated Expression of the Ladybird Homeobox Gene Causes Body Axis Deformation

GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits

Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis

Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese

Genomic study of adolescent idiopathic scoliosis in Japan

Identification and characterization of the human long form of Sox5 (L-SOX5) gene

Identification of RB1CC1, a novel human gene that can induce RB1 in various human cells

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.

Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)

Isolation, characterization and mapping of the mouse and human RB1CC1 genes

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

Mechanisms for asporin function and regulation in articular cartilage

Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fracture

Meta-analysis of association between the ASPN D-repeat and osteoarthritis

Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia

Nucleotide Pyrophosphatase Gene Polymorphism Associated With Ossification of the Posterior Longitudinal Ligament of the Spine ⬇️

Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human

PLAP-1/asporin, a novel negative regulator of periodontal ligament mineralization

Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation

Recapitulating the human segmentation clock with pluripotent stem cells

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

Regulation of endoplasmic reticulum stress response by a BBF2H7-mediated Sec23a pathway is essential for chondrogenesis

Replication of the association of the aspartic acid repeat polymorphism in the asporin gene with knee-osteoarthritis susceptibility in Han Chinese

SIK3 is essential for chondrocyte hypertrophy during skeletal development in mice

SMOC1 is essential for ocular and limb development in humans and mice

SOX9-dependent and -independent transcriptional regulation of human cartilage link protein

Shwachman-Diamond syndrome is associated with low-turnover osteoporosis

Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation

TRPV4-associated skeletal dysplasias

TRPV4-pathy, a novel channelopathy affecting diverse systems

The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

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

The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways

Truncating mutations of RB1CC1 in human breast cancer