A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders

(2018) Takeshi Mizuguchi et al.   HUMAN MOLECULAR GENETICS

Linkage between the mechanisms of thrombocytopenia and thrombopoiesis

(2016) K. Eto et al.   BLOOD

Megakaryocytes from CYCS mutation-associated thrombocytopenia release platelets by both proplatelet-dependent and -independent processes

(2016) Lily Ong et al.   BRITISH JOURNAL OF HAEMATOLOGY

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

(2016) B. Johnson et al.   HAEMATOLOGICA

Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations

(2016) Kazuhiro Iwama et al.   JOURNAL OF HUMAN GENETICS

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

(2016) B. Johnson et al.   HAEMATOLOGICA

Increased dynamics in the 40–57 Ω-loop of the G41S variant of human cytochrome c promote its pro-apoptotic conformation

(2016) Andreas Ioannis Karsisiotis et al.   Scientific Reports

The hydrogen-peroxide-induced radical behaviour in human cytochromec–phospholipid complexes: implications for the enhanced pro-apoptotic activity of the G41S mutant

(2013) Badri S. Rajagopal et al.   BIOCHEMICAL JOURNAL

Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics

(2013) Daniela De Rocco et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The Fission Yeastphp2Mutant Displays a Lengthened Chronological Lifespan

(2013) Kazuaki TAKUMA et al.   BIOSCIENCE BIOTECHNOLOGY AND BIOCHEMISTRY

A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia

(2008) Ian M Morison et al.   NATURE GENETICS