(Q35145013)

6 August 2017

0 references

Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia (English)

1 reference

6 August 2017

cleidocranial dysplasia

1 reference

Ya-Wun Guo

1

1 reference

6 August 2017

Chih-Yang Chiu

2

1 reference

6 August 2017

Chien-Lin Liu

3

1 reference

6 August 2017

Tjin-Shing Jap

4

1 reference

6 August 2017

Liang-Yu Lin

5

1 reference

6 August 2017

1 January 2015

1 reference

International Journal of Clinical and Experimental Pathology

6 August 2017

1 reference

6 August 2017

8

1 reference

6 August 2017

1

1 reference

6 August 2017

1057-1062

1 reference

A novel small deletion mutation in RUNX2 gene in one Chinese family with cleidocranial dysplasia

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

Novel complex disease allele mutations in cleidocranial dysplasia patients.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

A Runx2 threshold for the cleidocranial dysplasia phenotype

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

Mutations in the RUNX2 gene in Chinese patients with cleidocranial dysplasia.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

The genetic basis for skeletal diseases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

Cbfa1: a molecular switch in osteoblast biology

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

Cleidocranial dysplasia: clinical and molecular genetics

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

Role of the RUNX2 p.R225Q mutation in cleidocranial dysplasia: a rare presentation and an analysis of the RUNX2 protein structure.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

Novel RUNX2 frameshift mutations in Chinese patients with cleidocranial dysplasia.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

The effect of the cleidocranial dysplasia-related novel 1116_1119insC mutation in the RUNX2 gene on the biological function of mesenchymal cells

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

[Two novel RUNX2 gene mutations in two Chinese families with cleidocranial dysplasia].

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

RUNX2 mutations in Chinese patients with cleidocranial dysplasia.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

Transcriptional control of skeletogenesis

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

Advances in Runx2 regulation and its isoforms

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

[A Chinese girl with cleidocranial dysplasia (CCD) caused by the recurrent R190W mutation in RUNX 2].

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

A case of a Japanese patient with cleidocranial dysplasia possessing a mutation of CBFA1 gene

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348862

A case of Japanese cleidocranial dysplasia with a CBFA1 frameshift mutation

27 September 2018

1 reference

12 December 2020

[Gene mutation detection in a cleidocranial dysplasia family]

1 reference

12 December 2020

PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients

1 reference

12 December 2020

A stop codon mutation in the CBFA 1 gene causes cleidocranial dysplasia

1 reference

12 December 2020

[Clinical and image features, and identification of pathogenic gene mutation of two cleidocranial dysplasia families]

1 reference

12 December 2020

Cbfa1 in bone development

1 reference

12 December 2020

[Mutation analysis of the RUNX2 gene in a family with cleidocranial dysplasia]

1 reference

12 December 2020

[Identification of three novel frameshift mutations in the RUNX2 gene in three sporadic Chinese cases with cleidocranial dysplasia]

1 reference

12 December 2020

A novel single-base deletion mutation of the RUNX2 gene in a Chinese family with cleidocranial dysplasia

1 reference

12 December 2020

Identifiers

PMCID

4348862

1 reference

6 August 2017

1 reference