(Q24648254)

English

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

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scholarly article

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

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1 reference

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inferred from title

14

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15

object named as

Jouni Uitto

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Sharon F. Terry

3

object named as

Sharon F Terry

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Ellen G Pfendner

1

object named as

Ellen G Pfendner

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Olivier Vanakker

2

object named as

Olivier M Vanakker

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10

object named as

Paul J Coucke

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Lionel G Bercovitch

16

object named as

Lionel G Bercovitch

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Anna-Susan Marais

8

object named as

Anna-Susan Marais

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author name string

Sophia Vourthis

4

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Patricia E McAndrew

5

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Monica R McClain

6

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Sarah Fratta

7

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Susan Hariri

9

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Michele Ramsay

11

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Denis Viljoen

12

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Patrick F Terry

13

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language of work or name

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publication date

October 2007

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Journal of Medical Genetics

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44

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10

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621-8

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

7 April 2017

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

7 April 2017

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

7 April 2017

Mutations in ABCC6 cause pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

7 April 2017

Lack of correlation between phenotype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistani origin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

7 April 2017

ABCC6 and pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 September 2017

Elevated xylosyltransferase I activities in pseudoxanthoma elasticum (PXE) patients as a marker of stimulated proteoglycan biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 September 2017

Gaucher disease: complexity in a "simple" disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 September 2017

Pseudoxanthoma elasticum 2004.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 September 2017

Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 September 2017

Classification of pseudoxanthoma elasticum: report of a consensus conference

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 September 2017

Development of a rapid, reliable genetic test for pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 November 2018

Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 November 2018

New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 November 2018

Novel ABCC6 mutations in pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 November 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 November 2018

Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 November 2018

DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597973

28 November 2018

Does autosomal dominant pseudoxanthoma elasticum exist?

1 reference

https://pubmed.ncbi.nlm.nih.gov/17617515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)

1 reference

https://pubmed.ncbi.nlm.nih.gov/17617515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proof of "disease causing" mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17617515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE)

1 reference

https://pubmed.ncbi.nlm.nih.gov/17617515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity

1 reference

https://pubmed.ncbi.nlm.nih.gov/17617515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pseudoxanthoma elasticum: a metabolic disease?

1 reference

https://pubmed.ncbi.nlm.nih.gov/17617515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational analysis of theABCC6 gene and the proximalABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE)

1 reference

https://pubmed.ncbi.nlm.nih.gov/17617515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum

1 reference

https://pubmed.ncbi.nlm.nih.gov/17617515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17617515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2007.051094

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