Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. (Q36595115)

15 August 2017

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. (English)

1 reference

metaphyseal dysplasia, Braun-Tinschert type

15 August 2017

metaphyseal dysplasia

1 reference

based on heuristic

inferred from title

1 reference

11

Somayyeh Fahiminiya

0 references

Kym M Boycott

14

Kym M Boycott

1 reference

15 August 2017

Pingzhao Hu

8

0 references

Jeremy Schwartzentruber

Jeremy A Schwartzentruber

6

0 references

Andrew D. Paterson

Andrew D Paterson

7

0 references

Frank Rauch

Frank Rauch

15

0 references

Klaus Klaushofer

5

Klaus Klaushofer

1 reference

15 August 2017

12

Jacek Majewski

1 reference

15 August 2017

10

FORGE Canada Consortium

1 reference

15 August 2017

13

Chandree L Beaulieu

1 reference

15 August 2017

Pierre Moffatt

1

1 reference

15 August 2017

Mouna Ben Amor

2

1 reference

15 August 2017

Francis H Glorieux

3

1 reference

15 August 2017

Paul Roschger

4

1 reference

15 August 2017

Christian Marshall

9

1 reference

15 August 2017

Somayyeh Fahiminiya

11

1 reference

15 August 2017

language of work or name

English

0 references

publication date

3 January 2013

1 reference

American Journal of Human Genetics

15 August 2017

1 reference

15 August 2017

92

1 reference

15 August 2017

2

1 reference

15 August 2017

252-258

1 reference

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

Building strong bones: molecular regulation of the osteoblast lineage

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

Signaling networks in RUNX2-dependent bone development

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

Inducible expression of Runx2 results in multiorgan abnormalities in mice.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

Post-translational Regulation of Runx2 in Bone and Cartilage

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

Normative data on mineralization density distribution in iliac bone biopsies of children, adolescents and young adults

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

High bone resorption in adult aging transgenic mice overexpressing cbfa1/runx2 in cells of the osteoblastic lineage

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

Overexpression of Cbfa1 in osteoblasts inhibits osteoblast maturation and causes osteopenia with multiple fractures

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

Normative data for iliac bone histomorphometry in growing children.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

RUNX2 analysis of Danish cleidocranial dysplasia families

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

Runx2 determines bone maturity and turnover rate in postnatal bone development and is involved in bone loss in estrogen deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567275

The role of runt-related transcription factor 2 (Runx2) in the late stage of odontoblast differentiation and dentin formation

20 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23290074

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.12.001

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

23290074

1 reference