Masakazu Kohda

发表

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

Y. Okazaki, Tsutomu Suzuki, J. Yasuda, 2016, PLoS genetics.

Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report

I. Nishino, Y. Maegaki, A. Ohtake, 2015, Brain and Development.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Robert W. Taylor, Y. Okazaki, H. Williams, 2018, American journal of human genetics.

Haplotype-based analysis of genes associated with risk of adverse skin reactions after radiotherapy in breast cancer patients.

Y. Shibamoto, H. Tsujii, J. Ohashi, 2007, International journal of radiation oncology, biology, physics.

Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background.

Y. Okazaki, Y. Sakata, A. Takeda, 2019, International journal of cardiology.

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

Hitoshi Miyazawa, Shunei Kyo, Koichi Hagiwara, 2007, American journal of human genetics.

Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome

Y. Okazaki, Y. Kishita, A. Ohtake, 2019, neurogenetics.

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

Robert W. Taylor, M. Minczuk, E. Bertini, 2014, American journal of human genetics.

Knockdown of COPA, identified by loss-of-function screen, induces apoptosis and suppresses tumor growth in mesothelioma mouse model.

Atsushi B. Tsuji, T. Saga, O. Hino, 2010, Genomics.

Identification of the Coiled‐Coil Domain as an Essential Methyl‐CpG‐Binding Domain Protein 3 Element for Preserving Lineage Commitment Potential of Embryonic Stem Cells

Y. Okazaki, H. Koseki, Y. Mizuno, 2018, Stem cells.

Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population

K. Horie-Inoue, Y. Okazaki, S. Inoue, 2007, Journal of Human Genetics.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Robert W. Taylor, R. Durbin, T. Wieland, 2015, Annals of clinical and translational neurology.

Characteristics of MUTYH variants in Japanese colorectal polyposis patients

Y. Okazaki, Tatsuro Yamaguchi, K. Koizumi, 2018, International Journal of Clinical Oncology.

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

Y. Okazaki, P. Govaert, B. Loeys, 2015, American journal of human genetics.

Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies

Y. Okazaki, K. Kumamoto, T. Iwama, 2016, Familial Cancer.

HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families

J. Ott, Y. Okazaki, M. Lathrop, 2016, Journal of Human Genetics.

Frequent loss of imprinting of IGF2 and MEST in lung adenocarcinoma

M. Oshimura, M. Fujiwara, M. Kohda, 2001, Molecular carcinogenesis.

Valine metabolites analysis in ECHS1 deficiency

N. Matsumoto, N. Miyake, H. Osaka, 2021, Molecular genetics and metabolism reports.

Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis

Y. Okazaki, T. Fuchigami, Y. Kishita, 2020, Journal of inherited metabolic disease.

Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification.

Y. Okazaki, S. Tamaru, Yumi Mizuno, 2014, Biochimica et biophysica acta.

Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva.

Y. Okazaki, K. Miyazono, I. Owan, 2009, The Journal of biological chemistry.

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

E. Bertini, T. Meitinger, T. Strom, 2015, American journal of human genetics.

A Genome-Wide Association Study for Diabetic Retinopathy in a Japanese Population: Potential Association with a Long Intergenic Non-Coding RNA

Y. Okazaki, A. Koike, K. Tokunaga, 2014, PloS one.

A Japanese patient with neonatal biotin-responsive basal ganglia disease

H. Osaka, K. Murayama, M. Kohda, 2022, Human Genome Variation.

A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome

Y. Okazaki, J. Hayashi, A. Ohtake, 2021, Scientific Reports.

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

Y. Okazaki, T. Fuchigami, Y. Kishita, 2017, Journal of Inherited Metabolic Disease.

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

Robert W. Taylor, Alexis A. Jourdain, V. Mootha, 2017, American journal of human genetics.

Identification of a Japanese Lynch syndrome patient with large deletion in the 3' region of the EPCAM gene.

Y. Okazaki, K. Kumamoto, M. Kohda, 2015, Japanese journal of clinical oncology.

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Y. Okazaki, J. Smeitink, L. P. Van den Heuvel, 2017, Brain : a journal of neurology.

広島大学学術情報リポジトリ Hiroshima University Institutional Repository Title Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated , Outbred Patients

Y. Okazaki, Tomoaki Tanaka, H. Kawakami, 2022 .

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

Y. Okazaki, T. Aigaki, Y. Kishita, 2020, FEBS letters.

Y. Okazaki, I. Nishino, N. Matsumoto, 2016, Clinical genetics.

ATAD 3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Y. Okazaki, J. Smeitink, S. Heales, 2017 .

Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report

Y. Okazaki, Y. Kishita, A. Ohtake, 2019, Clinical case reports.

Correction: A Genome-Wide Association Study for Diabetic Retinopathy in a Japanese Population: Potential Association with a Long Intergenic Non-Coding RNA

Y. Okazaki, A. Koike, K. Tokunaga, 2014, PloS one.

A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy

Y. Okazaki, J. Hayashi, A. Takeda, 2017, Journal of Human Genetics.

Characteristics of MUTYH variants in Japanese colorectal polyposis patients

Y. Okazaki, Tatsuro Yamaguchi, K. Koizumi, 2018, International Journal of Clinical Oncology.

New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders

Tetsuro Sakai, Yasushi Okazaki, Yutaka Nakachi, 2014, Annals of clinical and translational neurology.

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

Hiroyuki Morino, Tomoaki Tanaka, Koichi Hagiwara, 2010, BMC Bioinformatics.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Y. Okazaki, H. Williams, M. Dattani, 2018, American journal of human genetics.