(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)

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

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

25 December 2019

Christina J Matheny

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

Maren E Speck

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

Patrick R Cushing

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

Takeshi Corpora

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

Michael Regan

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

Miki Newman

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

Liya Roudaia

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

Caroline L Speck

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

Ting-Lei Gu

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

Stephen M Griffey

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

Nancy A Speck

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

language of work or name

English

0 references

publication date

8 February 2007

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

volume

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

issue

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

page(s)

1163-1175

1 reference

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

describes a project that uses

25 December 2019

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1852839/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Engineering the structural stability and functional properties of the GI domain into the intrinsically unfolded GII domain of the yeast linker histone Hho1p

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

Point mutations in the RUNX1/AML1 gene: another actor in RUNX leukemia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

An improved cyan fluorescent protein variant useful for FRET

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

Rescuing the function of mutant p53.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

Identification of the regions involved in DNA binding by the mouse PEBP2alpha protein.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

Cleidocranial dysplasia: clinical and molecular genetics

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

Absence of fetal liver hematopoiesis in mice deficient in transcriptional coactivator core binding factor beta

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

Solution structure of the tetrameric minimum transforming domain of p53

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

Mutant p53 DNA clones from human colon carcinomas cooperate with ras in transforming primary rat cells: a comparison of the "hot spot" mutant phenotypes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

T-lymphoid, megakaryocyte, and granulocyte development are sensitive to decreases in CBFbeta dosage

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

Structural basis of DNA recognition by p53 tetramers.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

Engineering mouse apolipoprotein A-I into a monomeric, active protein useful for structural determination

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

Energetic contribution of residues in the Runx1 Runt domain to DNA binding.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

Energetic and functional contribution of residues in the core binding factor beta (CBFbeta ) subunit to heterodimerization with CBFalpha.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

Biophysical characterization of interactions between the core binding factor alpha and beta subunits and DNA.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

The AML1 transcription factor functions to develop and maintain hematogenic precursor cells in the embryonic aorta-gonad-mesonephros region.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852839

Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia

26 November 2018

1 reference

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)

1 reference

12 December 2020

Properties of Some Variants of Human β2-Microglobulin and Amyloidogenesis

1 reference

12 December 2020

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

1 reference

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

1 reference

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

1 reference

12 December 2020

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

1 reference

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

1 reference

12 December 2020

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

1 reference

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

PubMed publication ID

17290219

1 reference

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