3095 – PATHOGENIC RUNX1 MUTATIONS CAUSE DIFFERENT MALIGNANCIES BY UNIQUELY DISRUPTING GENE REGULATION HUBS
Sign Up to like & getrecommendations! Published in 2020 at "Experimental Hematology"
DOI: 10.1016/j.exphem.2020.09.108
Abstract: RUNX1 is a master haematopoietic transcription factor with cell-type dependent functions and thus RUNX1 mutations are seen in a range of haematological disorders. To understand the molecular basis of how different types of RUNX1 mutations… read more here.
Keywords: runx1 mutations; gene; runx1 binding; runx1 evi1 ... See more keywords
Gene of the issue: RUNX1 mutations and inherited bleeding
Sign Up to like & getrecommendations! Published in 2017 at "Platelets"
DOI: 10.1080/09537104.2017.1280151
Abstract: Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) (OMIM #601399) is an autosomal dominant disorder characterized by quantitative and qualitative platelet defects and an increased risk of AML. FPD/AML shares phenotypic similarities with… read more here.
Keywords: runx1; fpd aml; runx1 defects; gene ... See more keywords
Dysregulated MAPK signaling pathway in acute myeloid leukemia with RUNX1 mutations
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DOI: 10.1080/17474086.2022.2108015
Abstract: ABSTRACT Background Acute myeloid leukemia (AML) is a hematologic malignancy with genetic alterations. RUNX1, which is an essential transcription factor for hematopoiesis, is frequently mutated in AML. Loss-of-function mutation of RUNX1 is correlated with poor… read more here.
Keywords: runx1; myeloid leukemia; runx1 mutations; acute myeloid ... See more keywords
Frequency and Clinicopathologic Features of RUNX1 Mutations in Patients With Acute Myeloid Leukemia Not Otherwise Specified
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DOI: 10.1093/ajcp/aqx046
Abstract: Objectives To evaluate the frequency and clinicopathologic characteristics of RUNX1 mutations, focusing on patients with acute myeloid leukemia not otherwise specified (AML NOS). Methods Diagnostic samples from 219 patients with AML NOS were analyzed for… read more here.
Keywords: leukemia otherwise; patients acute; myeloid leukemia; frequency clinicopathologic ... See more keywords
RUNX1 Mutations Identify an Entity of Blast Phase Chronic Myeloid Leukemia (BP-CML) Patients with Distinct Phenotype, Transcriptional Profile and Drug Vulnerabilities
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DOI: 10.1182/blood-2018-99-111602
Abstract: Introduction: Genetic alterations of RUNX1 gene (mutations and fusion genes) are common in hematological malignancies including AML, ALL, MDS, and MPN. Mutations of RUNX1 occur in 10% of newly diagnosed AML patients and associate with… read more here.
Keywords: runx1; runx1 mutations; runx1 mutated; research funding ... See more keywords
B-cell acute lymphoblastic leukemia in patients with germline RUNX1 mutations.
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DOI: 10.1182/bloodadvances.2021004653
Abstract: Germline RUNX1 mutations underlie a syndrome, RUNX1-familial platelet disorder (RUNX1-FPD), characterized by bleeding symptoms that result from quantitative and/or qualitative defect in platelets and a significantly increased risk for developing hematologic malignancies. Myeloid neoplasms are… read more here.
Keywords: cell acute; germline runx1; runx1; lymphoblastic leukemia ... See more keywords