(Q37466158)

20 August 2017

Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia (English)

1 reference

20 August 2017

1 reference

10

Andrea Superti-Furga

0 references

Geert Mortier

object named as

Geert Mortier

11

0 references

author name string

Jan Hellemans

1

1 reference

20 August 2017

Marleen Simon

2

1 reference

20 August 2017

Annelies Dheedene

3

1 reference

20 August 2017

Yasemin Alanay

4

1 reference

20 August 2017

Ercan Mihci

5

1 reference

20 August 2017

Laila Rifai

6

1 reference

20 August 2017

Abdelaziz Sefiani

7

1 reference

20 August 2017

Yolande van Bever

8

1 reference

20 August 2017

Morteza Meradji

9

1 reference

20 August 2017

language of work or name

English

0 references

publication date

1 December 2009

1 reference

American Journal of Human Genetics

20 August 2017

1 reference

20 August 2017

85

1 reference

20 August 2017

6

1 reference

20 August 2017

916-922

1 reference

Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Characterizing the cancer genome in lung adenocarcinoma

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Nkx3.2/Bapx1 acts as a negative regulator of chondrocyte maturation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Nkx3.2-mediated repression of Runx2 promotes chondrogenic differentiation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Common arterial trunk associated with a homeodomain mutation of NKX2.6

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Pax1 and Pax9 activate Bapx1 to induce chondrogenic differentiation in the sclerotome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Shh establishes an Nkx3.2/Sox9 autoregulatory loop that is maintained by BMP signals to induce somitic chondrogenesis.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Mutations in TITF-1 are associated with benign hereditary chorea

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

NKX2.5 mutations in patients with tetralogy of fallot

23 August 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

23 August 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Somite formation and patterning

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

The murine Bapx1 homeobox gene plays a critical role in embryonic development of the axial skeleton and spleen

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

The mouse bagpipe gene controls development of axial skeleton, skull, and spleen

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Sonic hedgehog promotes somitic chondrogenesis by altering the cellular response to BMP signaling

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Congenital heart disease caused by mutations in the transcription factor NKX2-5

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: a candidate gene for skeletal dysplasia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

tinman and bagpipe: two homeo box genes that determine cell fates in the dorsal mesoderm of Drosophila

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Early stages of chick somite development.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Molecular cloning, chromosomal mapping and developmental expression of BAPX1, a novel human homeobox-containing gene homologous to Drosophila bagpipe

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Specification and segmentation of the paraxial mesoderm.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Targeted disruption of the homeobox transcription factor Bapx1 results in lethal skeletal dysplasia with asplenia and gastroduodenal malformation.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Detecting polymorphisms and mutations in candidate genes

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

The chick transcriptional repressor Nkx3.2 acts downstream of Shh to promote BMP-dependent axial chondrogenesis.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Spondylo-megaepiphyseal-metaphyseal dysplasia: a new bone dysplasia resembling cleidocranial dysplasia

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790567

Nosology and classification of genetic skeletal disorders: 2006 revision

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20004766

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691→Arg) in the type II collagen trimer

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20004766

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20004766

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2009.11.005

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

20004766

1 reference