Yasushi Okazaki

Professor, Director

Juntendo University

Japan

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About

Professor Yasushi Okazaki is the Director at Juntendo University in Japan. His research primarily focuses on mitochondrial DNA variants, genetic disorders such as Dravet syndrome, and the efficacy of treatments for pediatric patients with neurological conditions. His recent publications include insights into pathogenic variants in skin and systemic disorders, as well as the role of specific proteins in epidermal homeostasis.

Articles (19)

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2025

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2020

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2020

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2020

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2020

Collaborators (17)

Hidetaka Eguchi

Associate Professor

Juntendo University

JAPAN

Yasushi Okazaki

Research Interests

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Articles (19)

Mitochondrial DNA variants in normal skins: Insights into prevalent pathogenic variants and quality control surveillance

A case of Dravet syndrome with a novel SCN1A gross deletion involving the promoter region

A Newly Identified Spliceosomal Protein AHED Is Essential for Homeostasis of the Epidermis

Iron regulatory pathways differentially expressed during Madurella mycetomatis grain development in Galleria mellonella

Betagenin ameliorates diabetes by inducing insulin secretion and β-cell proliferation

Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene

Presence of mitochondrial dysfunction in a case of Fanconi syndrome with normoglycemic MODY1

Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease

PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease

Genetic Landscape of Masticatory Muscle Tendon—Aponeurosis Hyperplasia

A Japanese patient with neonatal biotin-responsive basal ganglia disease

Promotion Effects of Smoking in Polyp Development in Monozygotic Twins with Atypical Colorectal Polyposis

Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2

Germline deletion of chromosome 2p16-21 associated with Lynch syndrome

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

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

A model for Predicting DNA mismatch repair-deficient colorectal cancer

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

Collaborators (17)

Hidetaka Eguchi

Jun Natsume

YAN LU

Hiroaki Suzuki

Toshimitsu Hamasaki

Tomoki Kimura

Kenji Ihara

tatsushi ishimoto

Shinichi HIROSE

Akira Ohtake

Yoshihito Kishita

Masaru Shimura

Imad Abugessaisa

Hitoshi Osaka

Wendy van de Sande

Hiroki Nagase

Tsuyoshi Sato

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