List of works - Yasushi Okazaki

A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency

scientific article published on 08 May 2020

A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome

scientific article published on 04 August 2020

A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H ⬇️

scientific article published on March 4, 2011

A promoter-level mammalian expression atlas

scientific article

A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data

scientific article

A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testing

scientific article published on 22 November 2019

Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs

scientific article (publication date: 5 December 2002)

Analysis of the mouse transcriptome for genes involved in the function of the nervous system.

scientific article

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

scientific article published on 19 September 2017

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

scientific article published on 13 July 2016

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

scientific article

Comprehensive analysis of the mouse metabolome based on the transcriptome

scientific article published on June 2003

Continued discovery of transcriptional units expressed in cells of the mouse mononuclear phagocyte lineage

scientific article published in June 2003

Current progress in the prediction of chemosensitivity for breast cancer

scientific article published on January 2004

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

scientific article

Detection of genes with tissue-specific expression patterns using Akaike's information criterion procedure

scientific article

Development and evaluation of an automated annotation pipeline and cDNA annotation system

scientific article

Discovery of imprinted transcripts in the mouse transcriptome using large-scale expression profiling

scientific article

Drift effects and the cosmic ray density gradient in a solar rotation period: first observation with the global muon detector network (GMDN) ⬇️

scholarly article

Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases

scientific article published on 22 July 2019

Exploration of novel motifs derived from mouse cDNA sequences

scientific article

FANTOM5 CAGE profiles of human and mouse samples

scientific article published on 29 August 2017

Functional annotation of human long noncoding RNAs via molecular phenotyping

scientific article published on 27 July 2020

Gene discovery in genetically labeled single dopaminergic neurons of the retina

scholarly article

Gene expression profile of normal lungs predicts genetic predisposition to lung cancer in mice.

scientific article

Genetic control of the innate immune response

scientific article

Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients.

scientific article published on 2 May 2007

Identification of genes regulating colorectal carcinogenesis by using the algorithm for diagnosing malignant state method.

scientific article

Inferring alternative splicing patterns in mouse from a full-length cDNA library and microarray data

scientific article

Initial sequencing and comparative analysis of the mouse genome

scientific article

Integrative annotation of 21,037 human genes validated by full-length cDNA clones

scientific article

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

scientific article published on 24 February 2018

Molecular analysis of gene expression in the developing pontocerebellar projection system

scientific article published in October 2002

Multiple tissue-specific promoters control expression of the murine tartrate-resistant acid phosphatase gene

scientific article (publication date: 27 March 2003)

Murine osteoclasts secrete serine protease HtrA1 capable of degrading osteoprotegerin in the bone microenvironment

scientific article published on 01 March 2019

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

scientific article

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 26 July 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 6 September 2018

Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i6 A37 and ms2 i6 A37 modifications in tRNAs from blood and urine samples

scientific article published on 29 May 2019

Predicted mouse peroxisome-targeted proteins and their actual subcellular locations

scientific journal article

Prognostic phenotypic and genotypic factors associated with photodynamic therapy response in patients with age-related macular degeneration

scientific article published on 5 December 2014

Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases

scientific article published on 21 November 2018

Reply to the "Letter to the Editor" from Dr. J Finsterer and colleagues

scientific article published on 21 February 2019

Restriction landmark genome scanning

article published in 2011

Sirt1, p53, and p38 MAPK Are Crucial Regulators of Detrimental Phenotypes of Embryonic Stem Cells with Max Expression Ablation ⬇️

scientific article published on August 1, 2012

Ski3/TTC37 deficiency associated with trichohepatoenteric syndrome causes mitochondrial dysfunction in Drosophila

scientific article published on 15 April 2020

Systematic expression profiling of the mouse transcriptome using RIKEN cDNA microarrays

scientific article published on June 2003

Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia

scientific article

The mouse secretome: functional classification of the proteins secreted into the extracellular environment

scientific article

The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line.

scientific article

Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cells

scientific article

List of works by Yasushi Okazaki

A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency

A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome

A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H ⬇️

A promoter-level mammalian expression atlas

A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data

A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testing

Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs

Analysis of the mouse transcriptome for genes involved in the function of the nervous system.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

Comprehensive analysis of the mouse metabolome based on the transcriptome

Continued discovery of transcriptional units expressed in cells of the mouse mononuclear phagocyte lineage

Current progress in the prediction of chemosensitivity for breast cancer

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

Detection of genes with tissue-specific expression patterns using Akaike's information criterion procedure

Development and evaluation of an automated annotation pipeline and cDNA annotation system

Discovery of imprinted transcripts in the mouse transcriptome using large-scale expression profiling

Drift effects and the cosmic ray density gradient in a solar rotation period: first observation with the global muon detector network (GMDN) ⬇️

Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases

Exploration of novel motifs derived from mouse cDNA sequences

FANTOM5 CAGE profiles of human and mouse samples

Functional annotation of human long noncoding RNAs via molecular phenotyping

Gene discovery in genetically labeled single dopaminergic neurons of the retina

Gene expression profile of normal lungs predicts genetic predisposition to lung cancer in mice.

Genetic control of the innate immune response

Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients.

Identification of genes regulating colorectal carcinogenesis by using the algorithm for diagnosing malignant state method.

Inferring alternative splicing patterns in mouse from a full-length cDNA library and microarray data

Initial sequencing and comparative analysis of the mouse genome

Integrative annotation of 21,037 human genes validated by full-length cDNA clones

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

Molecular analysis of gene expression in the developing pontocerebellar projection system

Multiple tissue-specific promoters control expression of the murine tartrate-resistant acid phosphatase gene

Murine osteoclasts secrete serine protease HtrA1 capable of degrading osteoprotegerin in the bone microenvironment

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i6 A37 and ms2 i6 A37 modifications in tRNAs from blood and urine samples

Predicted mouse peroxisome-targeted proteins and their actual subcellular locations

Prognostic phenotypic and genotypic factors associated with photodynamic therapy response in patients with age-related macular degeneration

Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases

Reply to the "Letter to the Editor" from Dr. J Finsterer and colleagues

Restriction landmark genome scanning

Sirt1, p53, and p38 MAPK Are Crucial Regulators of Detrimental Phenotypes of Embryonic Stem Cells with Max Expression Ablation ⬇️

Ski3/TTC37 deficiency associated with trichohepatoenteric syndrome causes mitochondrial dysfunction in Drosophila

Systematic expression profiling of the mouse transcriptome using RIKEN cDNA microarrays

Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia

The mouse secretome: functional classification of the proteins secreted into the extracellular environment

The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line.

Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cells