List of works - Gen Nishimura

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta

scientific article

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

scientific article

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

A syndactyly type IV locus maps to 7q36.

scientific article

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)

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis

scientific article published on June 2008

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease

scientific journal article

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

FAM111A mutations result in hypoparathyroidism and impaired skeletal development

scientific article published on 16 May 2013

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

scientific article

Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development

scientific article (publication date: October 2007)

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

scientific article

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

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

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

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

scientific journal article

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

scientific journal article

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

scientific article

Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II

scientific article (publication date: April 2005)

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

scientific article

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

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype ⬇️

scientific article published on February 22, 2012

SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features

scientific article (publication date: March 2002)

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

Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

scientific article

List of works by Gen Nishimura

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

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

A syndactyly type IV locus maps to 7q36.

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

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

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease

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

FAM111A mutations result in hypoparathyroidism and impaired skeletal development

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

Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development

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

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

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

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

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

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

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

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

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype ⬇️

SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features

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

Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type