BLEEDING DISORDER, PLATELET-TYPE, 15
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
BLEEDING DISORDER, PLATELET-TYPE, 15
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
BLEEDING DISORDER, PLATELET-TYPE, 15
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
BLEEDING DISORDER, PLATELET-TYPE, 15
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Macrothrombocytopenia
|
0.480 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Macrothrombocytopenia
|
0.480 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Thrombocytopenia
|
0.170 |
Biomarker
|
phenotype |
HPO |
|
|
|
Anisocytosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Increased mean platelet volume
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Platelet anisocytosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Anisocyte Measurement
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Endometriosis
|
0.010 |
AlteredExpression
|
disease |
LHGDN |
The cytoskeletal proteins alpha-actinin, Ezrin, and talin are De-expressed in endometriosis and endometrioid carcinoma compared with normal uterine epithelium.
|
17525629 |
2007 |
Carcinoma, Endometrioid
|
0.010 |
AlteredExpression
|
disease |
LHGDN |
The cytoskeletal proteins alpha-actinin, Ezrin, and talin are De-expressed in endometriosis and endometrioid carcinoma compared with normal uterine epithelium.
|
17525629 |
2007 |
Astrocytoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Collectively, these findings suggest that alpha-actinin 1 and 4 are differentially regulated during the development and progression of astrocytomas because each of these isoforms uniquely contributes to distinct malignant properties of astrocytoma cells.
|
20156433 |
2010 |
Childhood Astrocytoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Collectively, these findings suggest that alpha-actinin 1 and 4 are differentially regulated during the development and progression of astrocytomas because each of these isoforms uniquely contributes to distinct malignant properties of astrocytoma cells.
|
20156433 |
2010 |
BLEEDING DISORDER, PLATELET-TYPE, 15
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
ACTN1 mutations cause congenital macrothrombocytopenia.
|
23434115 |
2013 |
Macrothrombocytopenia
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Individuals with ACTN1 variants presented with moderate macrothrombocytopenia with anisocytosis but were either asymptomatic or had only a modest bleeding tendency.
|
23434115 |
2013 |
Autosomal dominant macrothrombocytopenia
|
0.320 |
GermlineCausalMutation
|
disease |
ORPHANET |
ACTN1 mutations cause congenital macrothrombocytopenia.
|
23434115 |
2013 |
Blood Coagulation Disorders
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Individuals with ACTN1 variants presented with moderate macrothrombocytopenia with anisocytosis but were either asymptomatic or had only a modest bleeding tendency.
|
23434115 |
2013 |
Pneumonia, Ventilator-Associated
|
0.010 |
Biomarker
|
disease |
BEFREE |
We identified and validated a limited proteomic signature that discriminated VAP(+) from VAP(-) patients comprised of three proteins: S100A8, lactotransferrin (LTF), and actinin 1 (ACTN1).
|
23505561 |
2013 |
Thrombocytopenia
|
0.170 |
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 |
BLEEDING DISORDER, PLATELET-TYPE, 15
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
|
24069336 |
2013 |
Macrothrombocytopenia
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Candidate gene analysis complemented by targeted next-generation sequencing identified a missense mutation (c.137GA; p.Arg46Gln) in the alpha-actinin 1 gene (ACTN1) that segregated with macrothrombocytopenia in this large pedigree.
|
24069336 |
2013 |
Autosomal dominant macrothrombocytopenia
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
|
24069336 |
2013 |
Rheumatoid Arthritis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Future research on ACTN1 may help to improve the current therapeutic and diagnostic strategies of RA.
|
24534470 |
2014 |