List of works - Aritoshi Iida

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

scientific article

A functional SNP in the NKX2.5-binding site of ITPR3 promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population

scientific article

A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese

A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature

scientific article published on 13 December 2019

A novel intragenic deletion in in a Japanese patient with Dandy-Walker malformation

scientific article published on 05 December 2018

ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features

scientific article published on 09 July 2020

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

scientific article

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

scientific journal article

Catalog of 258 single-nucleotide polymorphisms (SNPs) in genes encoding three organic anion transporters, three organic anion-transporting polypeptides, and three NADH:ubiquinone oxidoreductase flavoproteins ⬇️

scientific article published on January 1, 2001

Citrullination of RGG Motifs in FET Proteins by PAD4 Regulates Protein Aggregation and ALS Susceptibility

scientific article published in February 2018

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

scientific article published on 06 April 2021

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

scientific article

Frequent Allelic Loss at 7p14‐15 Associated with Aggressive Histologic Types of Breast Cancer ⬇️

scientific article published on May 1, 1998

Identification of a significant association of a single nucleotide polymorphism in TNXB with systemic lupus erythematosus in a Japanese population

scientific article

Large-scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese ⬇️

scientific article published on 02 August 2010

Mapping of a new target region of allelic loss to a 2-cM interval at 22q13.1 in primary breast cancer ⬇️

scientific article published on 01 February 1998

Mapping of a new target region of allelic loss to a 6-cM interval at 21q21 in primary breast cancers ⬇️

scientific article published on 01 November 1998

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 deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese

scientific article published on 7 March 2012

Optineurin mutations in Japanese amyotrophic lateral sclerosis

scientific article published on 08 January 2011

PAPSS2mutations cause autosomal recessive brachyolmia ⬇️

scientific article published on July 11, 2012

Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians

scientific article published on 03 February 2011

Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy

scientific article published on 18 March 2019

Whole genome sequencing of 45 Japanese patients with intellectual disability

scientific article published on 24 February 2021

List of works by Aritoshi Iida

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

A functional SNP in the NKX2.5-binding site of ITPR3 promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population

A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese

A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature

A novel intragenic deletion in in a Japanese patient with Dandy-Walker malformation

ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features

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

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

Catalog of 258 single-nucleotide polymorphisms (SNPs) in genes encoding three organic anion transporters, three organic anion-transporting polypeptides, and three NADH:ubiquinone oxidoreductase flavoproteins ⬇️

Citrullination of RGG Motifs in FET Proteins by PAD4 Regulates Protein Aggregation and ALS Susceptibility

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

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

Frequent Allelic Loss at 7p14‐15 Associated with Aggressive Histologic Types of Breast Cancer ⬇️

Identification of a significant association of a single nucleotide polymorphism in TNXB with systemic lupus erythematosus in a Japanese population

Large-scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese ⬇️

Mapping of a new target region of allelic loss to a 2-cM interval at 22q13.1 in primary breast cancer ⬇️

Mapping of a new target region of allelic loss to a 6-cM interval at 21q21 in primary breast cancers ⬇️

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

Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese

Optineurin mutations in Japanese amyotrophic lateral sclerosis

PAPSS2mutations cause autosomal recessive brachyolmia ⬇️

Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians

Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy

Whole genome sequencing of 45 Japanese patients with intellectual disability