(Q40489175)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28738062%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

title

Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28738062%20AND%20SRC:MED&resulttype=core&format=json

RUNX family transcription factor 2

25 March 2020

main subject

1 reference

positive regulation of transcription by RNA polymerase II

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Shuguo Zheng

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28738062%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

author name string

Xianli Zhang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28738062%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Yang Liu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28738062%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Xiaozhe Wang

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28738062%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Xiangyu Sun

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28738062%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Chenying Zhang

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28738062%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

language of work or name

English

0 references

publication date

24 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28738062%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28738062%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28738062%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28738062%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

page(s)

e0181653

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28738062%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

25 March 2020

copyright license

start time

24 July 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

Central Role of P2Y6 UDP Receptor in Arteriolar Myogenic Tone

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

Role and regulation of RUNX2 in osteogenesis.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

Novel RUNX2 mutations in Chinese individuals with cleidocranial dysplasia

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

Cleidocranial dysplasia: clinical and molecular genetics

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

Two domains unique to osteoblast-specific transcription factor Osf2/Cbfa1 contribute to its transactivation function and its inability to heterodimerize with Cbfbeta

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

Intrinsic transcriptional activation-inhibition domains of the polyomavirus enhancer binding protein 2/core binding factor alpha subunit revealed in the presence of the beta subunit

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

A PEBP2 alpha/AML-1-related factor increases osteocalcin promoter activity through its binding to an osteoblast-specific cis-acting element

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

PEBP2/PEA2 represents a family of transcription factors homologous to the products of the Drosophila runt gene and the human AML1 gene

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

AML1, AML2, and AML3, the human members of the runt domain gene-family: cDNA structure, expression, and chromosomal localization

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

A specific targeting signal directs Runx2/Cbfa1 to subnuclear domains and contributes to transactivation of the osteocalcin gene

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

The Drosophila segmentation gene runt encodes a novel nuclear regulatory protein that is also expressed in the developing nervous system

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasia.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

The Runt domain identifies a new family of heteromeric transcriptional regulators.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524338

Cleidocranial dysplasia: oral features and genetic analysis of 11 patients

20 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0181653

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28738062

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28738062

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Intrafamilial variability in cleidocranial dysplasia: a three generation family

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28738062

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0181653

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28738062%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28738062%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

1 reference