Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. - Test2 - elhamkhani - TriplyDB

Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles.

Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles.

http://www.wikidata.org/entity/Q30443541

about

Structure and Biophysics of CBFβ/RUNX and Its Translocation Products.Accelerated leukemogenesis by truncated CBF beta-SMMHC defective in high-affinity binding with RUNX1 CBFbeta is critical for AML1-ETO and TEL-AML1 activity.Transcriptional control of megakaryocyte development.The ability of MLL to bind RUNX1 and methylate H3K4 at PU.1 regulatory regions is impaired by MDS/AML-associated RUNX1/AML1 mutations.Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.RUNX1/core binding factor A2 regulates platelet 12-lipoxygenase gene (ALOX12): studies in human RUNX1 haplodeficiency.Regulation of platelet myosin light chain (MYL9) by RUNX1: implications for thrombocytopenia and platelet dysfunction in RUNX1 haplodeficiency Familial myelodysplastic syndromes: a review of the literature.Genetics of familial forms of thrombocytopenia.Inherited thrombocytopenias frequently diagnosed in adults.Pathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists.Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.Lessons in platelet production from inherited thrombocytopenias.Impaired hematopoietic differentiation of RUNX1-mutated induced pluripotent stem cells derived from FPD/AML patients.Two novel RUNX1 mutations in a patient with congenital thrombocytopenia that evolved into a high grade myelodysplastic syndrome Molecular basis of inherited thrombocytopenias.Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.Clinical characteristics and platelet phenotype in a family with RUNX1 mutated thrombocytopenia.Definitive hematopoiesis requires Runx1 C-terminal-mediated subnuclear targeting and transactivation.Development of multilineage adult hematopoiesis in the zebrafish with a runx1 truncation mutation The Apc(min) mouse has altered hematopoietic stem cell function and provides a model for MPD/MDS.Compound haploinsufficiencies of Ebf1 and Runx1 genes impede B cell lineage progression Gene therapy by allele selection in a mouse model of beta-thalassemia.RUNX1 repression-independent mechanisms of leukemogenesis by fusion genes CBFB-MYH11 and AML1-ETO (RUNX1-RUNX1T1).The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta.Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.RUNX1 mutations in clonal myeloid disorders: from conventional cytogenetics to next generation sequencing, a story 40 years in the making Runx1 dose-dependently regulates endochondral ossification during skeletal development and fracture healing Depletion of RUNX1/ETO in t(8;21) AML cells leads to genome-wide changes in chromatin structure and transcription factor binding.A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia Molecular pathophysiology of myelodysplastic syndromes.A Runx2 threshold for the cleidocranial dysplasia phenotype Aurora kinase-induced phosphorylation excludes transcription factor RUNX from the chromatin to facilitate proper mitotic progression.Unraveling the molecular pathophysiology of myelodysplastic syndromes.New insights into transcriptional and leukemogenic mechanisms of AML1-ETO and E2A fusion proteins.RUNX1: A microRNA hub in normal and malignant hematopoiesis.A role for RUNX1 in hematopoiesis and myeloid leukemia.A short history of hemogenic endothelium.The RUNX family: developmental regulators in cancer.

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P2860

Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles.

http://www.wikidata.org/entity/Q30443541

description

2007 nî lūn-bûn

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2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2007 թվականի փետրվարին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

Disease mutations in RUNX1 and ...... ative, or hypomorphic alleles.

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Disease mutations in RUNX1 and ...... ative, or hypomorphic alleles.

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Disease mutations in RUNX1 and ...... ative, or hypomorphic alleles.

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Disease mutations in RUNX1 and ...... ative, or hypomorphic alleles.

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Disease mutations in RUNX1 and ...... ative, or hypomorphic alleles.

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Disease mutations in RUNX1 and ...... ative, or hypomorphic alleles.

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SJ.EMBOJ.7601568

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The EMBO Journal

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Disease mutations in RUNX1 and ...... gative, or hypomorphic alleles

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Caroline L Speck

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Christina J Matheny

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Liya Roudaia

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Maren E Speck

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Michael Regan

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Miki Newman

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Nancy A Speck

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Patrick R Cushing

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Stephen M Griffey

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Takeshi Corpora

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P2860

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis

Immunoglobulin motif DNA recognition and heterodimerization of the PEBP2/CBF Runt domain

The Ig fold of the core binding factor alpha Runt domain is a member of a family of structurally and functionally related Ig-fold DNA-binding domains

Structural analyses of DNA recognition by the AML1/Runx-1 Runt domain and its allosteric control by CBFbeta

The leukemia-associated AML1 (Runx1)--CBF beta complex functions as a DNA-induced molecular clamp

Effect of N-terminal and Met23 mutations on the structure and dynamics of onconase

Solution structure of the tetrameric minimum transforming domain of p53

Crystal structure of the tetramerization domain of the p53 tumor suppressor at 1.7 angstroms

A variant of yellow fluorescent protein with fast and efficient maturation for cell-biological applications

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1163-1175

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10.1038/SJ.EMBOJ.7601568

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John H Bushweller

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6515166

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1852839

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