Mutations in the RUNX2 gene in patients with cleidocranial dysplasia (Q28202887)

Negative regulation of granulocytic differentiation in the myeloid precursor cell line 32Dcl3 by ear-2, a mammalian homolog of Drosophila seven-up, and a chimeric leukemogenic gene, AML1/ETO.

Europe PubMed Central

title

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia (English)

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main subject

patient

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cleidocranial dysplasia

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3

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author name string

Florian Otto

series ordinal

1

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Hirokazu Kanegane

series ordinal

2

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language of work or name

English

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publication date

March 2002

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published in

Human Mutation

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volume

19

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page(s)

209-16

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issue

3

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

ALY, a context-dependent coactivator of LEF-1 and AML-1, is required for TCRalpha enhancer function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

Molecular insights into PEBP2/CBF beta-SMMHC associated acute leukemia revealed from the structure of PEBP2/CBF beta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

Solution structure of core binding factor beta and map of the CBF alpha binding site

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

Regulation of chondrocyte differentiation by Cbfa1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

A mechanism of repression by acute myeloid leukemia-1, the target of multiple chromosomal translocations in acute leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

AML3/CBFalpha1 is required for androgen-specific activation of the enhancer of the mouse sex-limited protein (Slp) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

Molecular cloning and characterization of PEBP2 beta, the heterodimeric partner of a novel Drosophila runt-related DNA binding protein PEBP2 alpha

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

Both AP-1 and Cbfa1-like factors are required for the induction of interstitial collagenase by parathyroid hormone

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

Proviral insertions induce the expression of bone-specific isoforms of PEBP2alphaA (CBFA1): evidence for a new myc collaborating oncogene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

Structural basis for the heterodimeric interaction between the acute leukaemia-associated transcription factors AML1 and CBFbeta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

Genomic structure and isoform expression of the mouse, rat and human Cbfa1/Osf2 transcription factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

A RUNX2/PEBP2alpha A/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

Intrafamilial variability in cleidocranial dysplasia: a three generation family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

7 January 2021

Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

7 January 2021

Cleidocranial dysplasia associated with a t(6;18)(p12;q24) translocation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

7 January 2021

PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10043

7 January 2021

Identifiers

DOI

10.1002/HUMU.10043

1 reference

Consolidated OpenCitations Corpus – April 2017

4949061

4949061

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference