Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. (Q30443541)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17290219%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles (English)

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25 December 2019

4

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25 December 2019

John H Bushweller

12

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25 December 2019

author name string

Christina J Matheny

1

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25 December 2019

Maren E Speck

2

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25 December 2019

Patrick R Cushing

3

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25 December 2019

Takeshi Corpora

5

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25 December 2019

Michael Regan

6

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25 December 2019

Miki Newman

7

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25 December 2019

Liya Roudaia

8

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25 December 2019

Caroline L Speck

9

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25 December 2019

Ting-Lei Gu

10

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25 December 2019

Stephen M Griffey

11

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25 December 2019

Nancy A Speck

13

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25 December 2019

language of work or name

English

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publication date

8 February 2007

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25 December 2019

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25 December 2019

volume

26

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25 December 2019

issue

4

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25 December 2019

page(s)

1163-1175

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describes a project that uses

25 December 2019

ImageQuant

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11 June 2022

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inferred from PubMed Central ID database lookup

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Loss of Runx1 perturbs adult hematopoiesis and is associated with a myeloproliferative phenotype.

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Mutagenesis of the Runt domain defines two energetic hot spots for heterodimerization with the core binding factor beta subunit

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A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia

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In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis

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26 November 2018

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26 November 2018

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26 November 2018

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26 November 2018

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26 November 2018

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26 November 2018

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26 November 2018

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12 December 2020

M0 AML, clinical and biologic features of the disease, including AML1 gene mutations: a report of 59 cases by the Groupe Français d'Hématologie Cellulaire (GFHC) and the Groupe Français de Cytogénétique Hématologique (GFCH)

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12 December 2020

Properties of Some Variants of Human β2-Microglobulin and Amyloidogenesis

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12 December 2020

CBFA1 Mutation Analysis and Functional Correlation with Phenotypic Variability in Cleidocranial Dysplasia

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12 December 2020

High incidence of biallelic point mutations in the Runt domain of the AML1/PEBP2 alpha B gene in Mo acute myeloid leukemia and in myeloid malignancies with acquired trisomy 21

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12 December 2020

Mutations of the AML1 gene in myelodysplastic syndrome and their functional implications in leukemogenesis

1 reference

12 December 2020

Functional mutagenesis of AML1/RUNX1 and PEBP2 beta/CBF beta define distinct, non-overlapping sites for DNA recognition and heterodimerization by the Runt domain

1 reference

12 December 2020

Different tumor-derived p53 mutants exhibit distinct biological activities

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12 December 2020

Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP2alphaB gene associated with myeloblastic leukemias

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12 December 2020

Haploinsufficiency of AML1 results in a decrease in the number of LTR-HSCs while simultaneously inducing an increase in more mature progenitors

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12 December 2020

Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome

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12 December 2020

Identifiers

DOI

10.1038/SJ.EMBOJ.7601568

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17290219%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17290219%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference