(Q38355967)

2 September 2017

title

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

1 reference

2 September 2017

Xiaofeng Hu

1

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2 September 2017

Astrid Plomp

2

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2 September 2017

Jan Wijnholds

3

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2 September 2017

Jacoline Ten Brink

4

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2 September 2017

Simone van Soest

5

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2 September 2017

L Ingeborgh van den Born

6

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2 September 2017

Anita Leys

7

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2 September 2017

Ron Peek

8

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2 September 2017

Paulus T V M de Jong

9

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2 September 2017

Arthur A B Bergen

10

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2 September 2017

publication date

1 March 2003

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European Journal of Human Genetics

2 September 2017

published in

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2 September 2017

volume

11

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2 September 2017

issue

3

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2 September 2017

page(s)

215-224

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Abnormalities of connective tissue components in lesional and non-lesional tissue of patients with pseudoxanthoma elasticum.

2 September 2017

cites work

1 reference

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International Centennial Meeting on Pseudoxanthoma Elasticum: progress in PXE research.

21 January 2018

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

21 January 2018

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A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1

21 January 2018

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21 January 2018

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

7 January 2021

Mutations in ABCC6 cause pseudoxanthoma elasticum

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Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

A family of drug transporters: the multidrug resistance-associated proteins.

21 January 2018

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Overexpression of a transporter gene in a multidrug-resistant human lung cancer cell line

21 January 2018

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ABC Transporters: From Microorganisms to Man

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MRP6 (ABCC6) detection in normal human tissues and tumors.

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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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

21 January 2018

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Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene

21 January 2018

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Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration

21 January 2018

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Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

Molecular genetics of pseudoxanthoma elasticum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

7 January 2021

Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

7 January 2021

Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

7 January 2021

ABCR unites what ophthalmologists divide(s)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200953

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200953

1 reference

Dimensions Publication ID

2 September 2017

1004925015

0 references

1 reference