Yoshihito Kishita

发表

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.

Jafar S. Jabbari, V. Mootha, Y. Okazaki, 2020, Med.

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

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

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

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

Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease

Y. Okazaki, Tsutomu Suzuki, K. Tomizawa, 2018, Nucleic acids research.

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

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

Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report

Y. Okazaki, H. Kitamura, Y. Kishita, 2020, Molecular genetics and metabolism reports.

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.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

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

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, Genome Medicine.

Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185 T > C variant in the MT-ATP6 gene: Expanding the clinical spectrum

Y. Kishita, A. Ohtake, K. Murayama, 2019, Brain and Development.

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

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

Strategic validation of variants of uncertain significance in ECHS1 genetic testing

K. Nitta, H. Osaka, Y. Kishita, 2022, Journal of Medical Genetics.

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.

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

Y. Okazaki, M. Nakajima, Kiwamu Takahashi, 2019, Scientific Reports.

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.

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.

A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes

Y. Okazaki, Y. Kishita, K. Murayama, 2020, BMC Nephrology.

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.

Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease

Hideki Uosaki, H. Osaka, Y. Kishita, 2023, Molecular genetics and metabolism reports.

Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion

K. Nitta, Y. Kishita, A. Ohtake, 2022, Molecular genetics and metabolism reports.

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

Y. Okazaki, K. Nitta, Y. Kishita, 2020, Clinical genetics.

Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G>A

K. Nitta, Y. Kishita, A. Ohtake, 2021, Mitochondrion.

Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis

K. Nitta, Y. Kishita, A. Ohtake, 2021, Archives of Disease in Childhood.

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

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

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

Y. Okazaki, Tomoaki Tanaka, K. Matsushita, 2019, Scientific Reports.

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

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.

MSH1 maintains organelle genome stability and genetically interacts with RECA and RECG in the moss Physcomitrella patens

Y. Sekine, Y. Kishita, Masaki Odahara, 2017, The Plant journal : for cell and molecular biology.

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

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

Impaired fatty acid oxidation in a Drosophila model of mitochondrial trifunctional protein (MTP) deficiency.

Manabu Tsuda, Toshiro Aigaki, T. Aigaki, 2012, Biochemical and biophysical research communications.

Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors

Shiho Aoki, Naoya Yamada, Chika Watanabe, 2024, Scientific reports.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

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