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Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.01.018
Abstract: Arteriovenous malformation (AVM) is a fast-flow, congenital vascular anomaly that may arise anywhere in the body. AVMs typically progress, causing destruction of surrounding tissue and, sometimes, cardiac overload. AVMs are difficult to control; they often…
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Keywords:
map2k1;
map2k1 mutations;
endothelial cells;
arteriovenous malformation ... See more keywords
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Published in 2024 at "Journal of Cutaneous Pathology"
DOI: 10.1111/cup.14700
Abstract: Rarely, Rosai–Dorfman disease (RDD) manifests exclusively in the skin, typically as nodules on the trunk and extremities. Recognition of characteristic histopathologic features enables diagnosis of RDD. A 55‐year‐old female presented with a 7‐year history of…
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Keywords:
parasitized histiocytes;
map2k1 mutation;
rosai dorfman;
mutation ... See more keywords
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Published in 2022 at "Molecular Cancer Therapeutics"
DOI: 10.1158/1535-7163.mct-22-0302
Abstract: Abstract Activating mutations in mitogen-activated protein kinase kinase 1 (MAP2K1) are involved in a variety of cancers and may be classified according to their RAF dependence. Sensitivity to combined BRAF and MEK treatments is associated…
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Keywords:
map2k1 variants;
evaluation;
sensitivity;
braf ... See more keywords
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Published in 2021 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2021.785526
Abstract: Background MAP2K1/2 genes are mutated in approximately 8% of melanoma patients; however, the impact of MAP2K1/2 gene alterations on the efficiency of immunotherapy has not been clarified. This study focused on the correlation between MAP2K1/2…
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Keywords:
map2k1;
anti ctla;
map2k1 mutations;
treatment ... See more keywords