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
A computational study of the fold and stability of cytochrome c with implications for disease.
Yousaf MA et al.
International Journal of Biological Macromolecules, 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
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).
Lassandro G et al.
Frontiers in Pediatrics, 2022
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
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
CYCS gene variants associated with thrombocytopenia.
Ledgerwood EC et al.
Platelets, 2019
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
Megakaryocytes from CYCS mutation-associated thrombocytopenia release platelets by both proplatelet-dependent and -independent processes.
Ong L et al.
British Journal of Haematology, 2017
Differentiation and cell density upregulate cytochrome c levels in megakaryoblastic cell lines: Implications for analysis of CYCS-associated thrombocytopenia.
Ong L et al.
Plos One, 2017
Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan.
Johnson B et al.
Platelets, 2016
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015