|
Thrombocytopenia
|
0.170 |
Biomarker
|
phenotype |
BEFREE |
ACTN1-related Macrothrombocytopenia: A Novel Entity in the Progressing Field of Pediatric Thrombocytopenia.
|
28562514 |
2017 |
|
Thrombocytopenia
|
0.170 |
GeneticVariation
|
phenotype |
BEFREE |
Moreover, it is worth mentioning data on hypomorphic mutations of FLI1 and the association of single nucleotide polymorphisms, such as that identified in ACTN1, with thrombocytopenia.
|
27438527 |
2016 |
|
Thrombocytopenia
|
0.170 |
Biomarker
|
phenotype |
BEFREE |
Alterations of ACTN1, the gene encoding for α-actinin 1, have recently been identified in a few families as being responsible for a mild form of IT (ACTN1-related thrombocytopenia; ACTN1-RT).
|
25361813 |
2015 |
|
Thrombocytopenia
|
0.170 |
Biomarker
|
phenotype |
BEFREE |
In this issue of Blood, Bottega et al document mutations in ACTN1, which encodes the cytoskeletal protein α-actinin 1, in 10 of 239 consecutive probands with an inherited thrombocytopenia--making ACTN1 an important cause of familial thrombocytopenia.
|
25634615 |
2015 |
|
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 |
|
Thrombocytopenia
|
0.170 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Platelet Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analyses of diverse populations improves discovery for complex traits.
|
31217584 |
2019 |
|
Platelet Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
|
29403010 |
2018 |
|
Platelet Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans.
|
26805783 |
2016 |
|
Platelet mean volume determination (procedure)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Platelet Component Distribution Width Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level.
|
26252872 |
2015 |
|
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 |
|
|
|
|
Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
Intravenous delivery of CTNNA1 siRNA with CA nanoparticles significantly reduced tumor volume in the initial phase of the study, while siRNAs targeting CTNNB1, TLN1, VCL, PXN, and ACTN1 genes significantly decreased the tumor burden at all time points.
|
31269666 |
2019 |
|
Tumor Progression
|
0.020 |
AlteredExpression
|
phenotype |
BEFREE |
Their less responsive sister paralogs-myosin IIB (MYH10), α-actinin 1, and filamin A-had lower expression differential or disappeared with cancer progression.
|
31358530 |
2019 |
|
Malignant neoplasm of breast
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Increased expression of α-actinin-1 is particularly noted in basal-like breast cancer cell lines, and in breast cancer patients it associates with poor prognosis in basal-like subtypes.
|
29742177 |
2018 |
|
Breast Carcinoma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Increased expression of α-actinin-1 is particularly noted in basal-like breast cancer cell lines, and in breast cancer patients it associates with poor prognosis in basal-like subtypes.
|
29742177 |
2018 |
|
Tumor Progression
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
It shares 86% protein similarity with α-actinin-1, another non-muscle ACTN isoform, which appears to have a more modest role, if any, in cancer progression.
|
28579451 |
2017 |
|
Malignant neoplasm of breast
|
0.020 |
Biomarker
|
disease |
BEFREE |
Depletion of either α-actinin-1 or -4 inhibited breast cancer cell migration.
|
24662836 |
2015 |
|
Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
The modulatory networks of NF-κB/RelA in the context epithelial-mesenchymal transition (EMT) and burn injury have different modulators, including those involved in extracellular matrix (FBN1), cytoskeletal regulation (ACTN1), and metastasis-associated lung adenocarcinoma transcript 1 (MALAT1), a long intergenic nonprotein coding RNA, and tumor suppression (FOXP1) for EMT, and TXNIP, GAPDH, PKM2, IFIT5, LDHA, NID1, and TPP1 for burn injury.
|
25844669 |
2015 |
|
Breast Carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Depletion of either α-actinin-1 or -4 inhibited breast cancer cell migration.
|
24662836 |
2015 |
|
Myopathy
|
0.010 |
Biomarker
|
group |
BEFREE |
Taken together, our data highlight the importance for Cullin-3 mediated degradation of ACTN1 for muscle development, and indicate a new pathomechanism for the etiology of myopathies seen in Cullin-3 knockout mice and nemaline myopathy patients.
|
30990797 |
2019 |