(Q35204417)

7 August 2017

A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia (English)

1 reference

ORCID Public Data File 2021

7 August 2017

1 reference

author name string

Masaki Mastushita

1

1 reference

7 August 2017

Hiroshi Kitoh

2

1 reference

7 August 2017

Asli Subasioglu

3

1 reference

7 August 2017

Fatma Kurt Colak

4

1 reference

7 August 2017

Munis Dundar

5

1 reference

7 August 2017

Kenichi Mishima

6

1 reference

7 August 2017

Yoshihiro Nishida

7

1 reference

7 August 2017

Naoki Ishiguro

8

1 reference

7 August 2017

29 January 2015

1 reference

7 August 2017

Molecular syndromology

1 reference

7 August 2017

6

1 reference

7 August 2017

1

1 reference

7 August 2017

50-53

1 reference

Glutamine repeat variants in human RUNX2 associated with decreased femoral neck BMD, broadband ultrasound attenuation and target gene transactivation

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369121

Mechanisms of trinucleotide repeat instability during human development

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369121

Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369121

Amyloid fibers are water-filled nanotubes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369121

Cbfa1 isoforms exert functional differences in osteoblast differentiation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369121

Glutamine repeats and inherited neurodegenerative diseases: molecular aspects

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369121

A novel in-frame deletion of the RUNX2 gene causes a classic form of 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=4369121

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369121

Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369121

Molecular origins of rapid and continuous morphological evolution

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369121

RUNX2 alleles associated with BMD in Scottish women; interaction of RUNX2 alleles with menopausal status and body mass index

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369121

Core-binding factor beta interacts with Runx2 and is required for skeletal development

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369121

A natural history of cleidocranial dysplasia.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369121

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369121

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369121

Common polymorphisms rather than rare genetic variants of the Runx2 gene are associated with femoral neck BMD in Spanish women

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25852448

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1159/000370337

1 reference

7 August 2017

1 reference

7 August 2017

1 reference