Thrombocytopenia 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.
|
30051457 |
2018 |
Thrombocytopenia 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene.
|
24326104 |
2014 |
Thrombocytopenia 4
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene.
|
24326104 |
2014 |
Thrombocytopenia 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene.
|
24326104 |
2014 |
Thrombocytopenia 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
|
18345000 |
2008 |
Thrombocytopenia 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
|
18345000 |
2008 |
Thrombocytopenia 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
|
18345000 |
2008 |
Thrombocytopenia 4
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
Thrombocytopenia 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Thrombocytopenia
|
0.650 |
GeneticVariation
|
phenotype |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
Thrombocytopenia
|
0.650 |
GeneticVariation
|
phenotype |
BEFREE |
Megakaryocytes from CYCS mutation-associated thrombocytopenia release platelets by both proplatelet-dependent and -independent processes.
|
27861742 |
2017 |
Thrombocytopenia
|
0.650 |
GeneticVariation
|
phenotype |
BEFREE |
THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene.
|
24326104 |
2014 |
Thrombocytopenia
|
0.650 |
GeneticVariation
|
phenotype |
BEFREE |
In the last 5 years, nine new genes whose mutations are responsible for thrombocytopenia have been identified, and this also led to the recognition of several novel nosographic entities, such as thrombocytopenias deriving from mutations in CYCS, TUBB1, FLNA, ITGA2B/ITGB3, ANKRD26 and ACTN1.
|
23636669 |
2013 |
Thrombocytopenia
|
0.650 |
GeneticVariation
|
phenotype |
LHGDN |
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin.
|
19172527 |
2009 |
Thrombocytopenia
|
0.650 |
Biomarker
|
phenotype |
CTD_human |
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
|
18345000 |
2008 |
Thrombocytopenia
|
0.650 |
GeneticVariation
|
phenotype |
LHGDN |
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
|
18345000 |
2008 |
Thrombocytopenia
|
0.650 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
|
18345000 |
2008 |
Thrombocytopenia
|
0.650 |
Biomarker
|
phenotype |
HPO |
|
|
|
Chloracne
|
0.300 |
Biomarker
|
disease |
CTD_human |
Microarray analysis of gene expression in peripheral blood mononuclear cells from dioxin-exposed human subjects.
|
17101203 |
2007 |
Methylmalonic acidemia
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis.
|
16823967 |
2006 |
Methylmalonic aciduria
|
0.300 |
Biomarker
|
disease |
CTD_human |
Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis.
|
16823967 |
2006 |
Obesity
|
0.300 |
Biomarker
|
disease |
CTD_human |
Alcohol increases tumor necrosis factor alpha and decreases nuclear factor-kappab to activate hepatic apoptosis in genetically obese mice.
|
16317704 |
2005 |
Ischemia
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Minocycline inhibits apoptosis and inflammation in a rat model of ischemic renal injury.
|
15172883 |
2004 |
Brain Ischemia
|
0.300 |
Biomarker
|
disease |
CTD_human |
Overexpression of copper/zinc superoxide dismutase in transgenic rats protects vulnerable neurons against ischemic damage by blocking the mitochondrial pathway of caspase activation.
|
11756504 |
2002 |
Cerebral Ischemia
|
0.300 |
Biomarker
|
disease |
CTD_human |
Overexpression of copper/zinc superoxide dismutase in transgenic rats protects vulnerable neurons against ischemic damage by blocking the mitochondrial pathway of caspase activation.
|
11756504 |
2002 |