(Q34112150)

31 July 2017

title

The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease (English)

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31 July 2017

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coronary artery disease

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Gabriella Köblös

1

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31 July 2017

Hajnalka Andrikovics

2

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31 July 2017

Zoltán Prohászka

3

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31 July 2017

Attila Tordai

4

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31 July 2017

András Váradi

5

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31 July 2017

Tamás Arányi

6

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31 July 2017

publication date

1 February 2010

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Genetic Testing and Molecular Biomarkers

31 July 2017

published in

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31 July 2017

volume

14

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31 July 2017

issue

1

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31 July 2017

page(s)

75-78

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Pseudoxanthoma elasticum: genetic diagnostic markers

31 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

Identification of Abcc6 as the major causal gene for dystrophic cardiac calcification in mice through integrative genomics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

Identification of a DNA methylation-dependent activator sequence in the pseudoxanthoma elasticum gene, ABCC6.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

PSEUDOXANTHOMA ELASTICUM: A CLINICAL AND HISTOPATHOLOGICAL STUDY

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

Mutations in ABCC6 cause pseudoxanthoma elasticum

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

Classification of pseudoxanthoma elasticum: report of a consensus conference

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

Role of serum fetuin-A, a major inhibitor of systemic calcification, in pseudoxanthoma elasticum.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

Asymmetric PCR increases efficiency of melting peak analysis on the LightCycler.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

Guidelines for the early management of patients with ischemic stroke: A scientific statement from the Stroke Council of the American Stroke Association

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

An Alternative Splice Variant inAbcc6, the Gene Causing Dystrophic Calcification, Leads to Protein Deficiency in C3H/He Mice

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2935842

The local calcification inhibitor matrix Gla protein in pseudoxanthoma elasticum

9 December 2018

1 reference

12 December 2020

How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes

1 reference

12 December 2020

Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth

1 reference

12 December 2020

Clustering of disease-causing mutations on the domain-domain interfaces of ABCC6

1 reference

12 December 2020

Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity

1 reference

12 December 2020

Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum

1 reference

12 December 2020

Identifiers

DOI

10.1089/GTMB.2009.0094

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31 July 2017

1 reference

31 July 2017

1 reference