(Q38088833)

28 August 2017

title

Pseudoxanthoma elasticum: genetic diagnostic markers (English)

1 reference

28 August 2017

2

Jouni Uitto

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28 August 2017

4

Sharon F Terry

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28 August 2017

1

Ellen G Pfendner

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28 August 2017

Gary F Gerard

3

1 reference

28 August 2017

language of work or name

English

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publication date

1 January 2008

1 reference

Expert Opinion on Medical Diagnostics

28 August 2017

published in

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28 August 2017

volume

2

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28 August 2017

issue

1

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28 August 2017

page(s)

63-79

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

28 August 2017

cites work

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Classification of pseudoxanthoma elasticum: report of a consensus conference

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The gene family of ABC transporters--novel mutations, new phenotypes

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Spectrum of pattern dystrophy in pseudoxanthoma elasticum

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Clinical pathologic observations in pseudoxanthoma elasticum

21 January 2018

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

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Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.

21 January 2018

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Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?

21 January 2018

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Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro

21 January 2018

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Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).

21 January 2018

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

21 January 2018

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Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity

21 January 2018

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Pseudoxanthoma elasticum: reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6-/-).

21 January 2018

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Oxidative stress in fibroblasts from patients with pseudoxanthoma elasticum: possible role in the pathogenesis of clinical manifestations

21 January 2018

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Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16.

21 January 2018

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Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum

21 January 2018

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MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver

21 January 2018

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Mutations in ABCC6 cause pseudoxanthoma elasticum

21 January 2018

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Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

21 January 2018

1 reference

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

21 January 2018

1 reference

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Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

21 January 2018

1 reference

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A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

21 January 2018

1 reference

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Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11

21 January 2018

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Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum

21 January 2018

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Molecular genetics of pseudoxanthoma elasticum

21 January 2018

1 reference

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Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa

21 January 2018

1 reference

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ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum

21 January 2018

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Novel ABCC6 mutations in pseudoxanthoma elasticum

21 January 2018

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Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.

21 January 2018

1 reference

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ABCC6 and pseudoxanthoma elasticum

21 January 2018

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New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.

21 January 2018

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Identification of a novel deletion in the ABCC6 gene leading to Pseudoxanthoma elasticum

21 January 2018

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Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum

21 January 2018

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Analysis of sequence variations in the ABCC6 gene among patients with abdominal aortic aneurysm and pseudoxanthoma elasticum.

21 January 2018

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Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.1.63

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

21 January 2018

1 reference

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Primate segmental duplications: crucibles of evolution, diversity and disease

21 January 2018

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An Alu Transposition Model for the Origin and Expansion of Human Segmental Duplications

21 January 2018

1 reference

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Analysis of primate genomic variation reveals a repeat-driven expansion of the human genome

21 January 2018

1 reference

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A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.

21 January 2018

1 reference

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Development of a rapid, reliable genetic test for pseudoxanthoma elasticum

21 January 2018

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

21 January 2018

1 reference

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Transcriptional regulation and characterization of the promoter region of the human ABCC6 gene

21 January 2018

1 reference

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HNF4alpha and NF-E2 are key transcriptional regulators of the murine Abcc6 gene expression

21 January 2018

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DNA methylation and Sp1 binding determine the tissue-specific transcriptional activity of the mouse Abcc6 promoter

21 January 2018

1 reference

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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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.1.63

A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.1.63

21 January 2018

Identifiers

DOI

10.1517/17530059.2.1.63

1 reference

28 August 2017

1 reference