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   Articles with "actn1" as a keyword



Novel ACTN1 variants in cases of thrombocytopenia

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recommendations! Published in 2019 at "Human Mutation"

DOI: 10.1002/humu.23840

Abstract: The ACTN1 gene has been implicated in inherited macrothrombocytopenia. To decipher the spectrum of variants and phenotype of ACTN1‐related thrombocytopenia, we sequenced the ACTN1 gene in 272 cases of unexplained chronic or familial thrombocytopenia. We… read more here.

Keywords: actn1 variants; rod domain; thrombocytopenia; variants cases ... See more keywords

ACTN1 promotes cell invasion, migration, and EMT in thyroid cancer and is associated with immune infiltration

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recommendations! Published in 2024 at "Scientific Reports"

DOI: 10.1038/s41598-024-83719-3

Abstract: Alpha-actin-1 (ACTN1) is a cytoskeletal protein, and new evidence suggests that it is associated with tumor progression and prognosis. However, the expression of ACTN1 in thyroid carcinoma (THCA) and its biological functions are not fully… read more here.

Keywords: actn1; migration; infiltration; invasion ... See more keywords

α-Actinin1 promotes tumorigenesis and epithelial-mesenchymal transition of gastric cancer via the AKT/GSK3β/β-Catenin pathway.

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recommendations! Published in 2021 at "Bioengineered"

DOI: 10.1080/21655979.2021.1967713

Abstract: α-Actinin1 (ACTN1), an actin cross-linking protein, is implicated in cytokinesis, cell adhesion, and cell migration. In addition, it is involved in the tumorigenesis and development of certain cancers, such as breast cancer. We explored the… read more here.

Keywords: mesenchymal transition; gastric cancer; actn1; epithelial mesenchymal ... See more keywords

A Genetic Perspective to Reveal the Impact of Mitochondrial Dysfunction-related Genes on Diabetic Kidney Disease: A Multi-omics Study.

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recommendations! Published in 2025 at "Current medicinal chemistry"

DOI: 10.2174/0109298673401081250523061057

Abstract: OBJECTIVE This study investigated the causes of Mitochondrial Dysfunction (MD) in Diabetic Kidney Disease (DKD) progression, and identified genes associated with DKD, especially those with significant genetic causal effects, to provide a theoretical basis for… read more here.

Keywords: dkd; actn1; kidney disease; diabetic kidney ... See more keywords