Associated Papers
CYCS-related thrombocytopenia in three Japanese families with a novel variant in one family.
Yamada N et al.
International Journal of Hematology, 2025
Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in C. elegans.
Ősz F et al.
Antioxidants (basel, Switzerland), 2025
A novel thrombocytopenia-4-causing CYCS gene variant decreases caspase activity: Three-generation study.
Štika J et al.
British Journal of Haematology, 2024
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.
Marzollo A et al.
British Journal of Haematology, 2024
The Y49H cytochrome c variant enhances megakaryocytic maturation of K-562 cells.
Shafaei Pishabad Z et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
Altered conformational dynamics contribute to species-specific effects of cytochrome c mutations on caspase activation.
Chin TC et al.
Journal of Biological Inorganic Chemistry : Jbic : a Publication of the Society of Biological Inorganic Chemistry, 2024
Naturally Occurring I81N Mutation in Human Cytochrome c Regulates Both Inherent Peroxidase Activity and Interactions with Neuroglobin.
Feng Y et al.
Acs Omega, 2022
Altered structure and dynamics of pathogenic cytochrome c variants correlate with increased apoptotic activity.
Fellner M et al.
The Biochemical Journal, 2021
A Novel Heterozygous Pathogenic Variation in CYCS Gene Cause Autosomal Dominant Non-Syndromic Thrombocytopenia 4 in a Large Chinese Family.
Che F et al.
Frontiers in Genetics, 2021
The importance of Asn52 in the structure-function relationship of human cytochrome c.
Lou D et al.
Rsc Advances, 2020
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.
Uchiyama Y et al.
Clinical Genetics, 2018
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