(Q38737280)

6 September 2017

Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations (English)

1 reference

Katharina Spanel-Borowski

6 September 2017

3

object named as

Katharina Spanel-Borowski

1 reference

6 September 2017

Stella Marie Reamon-Buettner

1

1 reference

6 September 2017

Hartmut Hecker

2

1 reference

6 September 2017

Steffen Craatz

4

1 reference

6 September 2017

Eberhard Kuenzel

5

1 reference

6 September 2017

Juergen Borlak

6

1 reference

6 September 2017

language of work or name

English

0 references

publication date

1 June 2004

1 reference

The American Journal of Pathology

6 September 2017

1 reference

6 September 2017

164

1 reference

6 September 2017

2117-2125

1 reference

6 September 2017

6

1 reference

Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

The incidence of congenital heart disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

The combinatorial activities of Nkx2.5 and dHAND are essential for cardiac ventricle formation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

NKX2.5 mutations in patients with tetralogy of fallot

6 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

6 September 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

Molecular evolution of the homeodomain family of transcription factors

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

A genetic blueprint for cardiac development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

Functional analyses of three Csx/Nkx-2.5 mutations that cause human congenital heart disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

Intramolecular control of transcriptional activity by the NK2-specific domain in NK-2 homeodomain proteins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

A high frequency of sequence alterations is due to formalin fixation of archival specimens

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

On the origin of multiple mutations in human cancers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

Identification of the in vivo casein kinase II phosphorylation site within the homeodomain of the cardiac tisue-specifying homeobox gene product Csx/Nkx2.5

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

Mutations in BRCA1 from fixed, paraffin-embedded tissue can be artifacts of preservation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

Enhanced DNA extraction and PCR amplification of mitochondrial genes from formalin-fixed museum specimens.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

Molecular cloning, chromosomal mapping, and characterization of the human cardiac-specific homeobox gene hCsx

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

NK-2 homeobox genes and heart development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

Identification of novel DNA binding targets and regulatory domains of a murine tinman homeodomain factor, nkx-2.5.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

Trisomy 5 mosaicism detected prenatally with an affected liveborn

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

NKX2.5mutations in patients with congenital heart disease

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

Population-based study of congenital heart defects in Down syndrome.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1615780

Molecular cloning and characterization of human cardiac homeobox gene CSX1

31 August 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963770-4

Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963770-4

Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963770-4

Congenitally malformed hearts from a population of children undergoing cardiac transplantation: comments on sequential segmental analysis and dissection

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963770-4

Tissue-specific mosaicism for trisomy 21 and congenital heart disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963770-4

Association of a mosaic chromosomal 22q 11 deletion with hypoplastic left heart syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963770-4

10.1016/S0002-9440(10)63770-4

7 January 2021

Identifiers

DOI

1 reference

6 September 2017

1 reference

6 September 2017

1 reference