Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface? (Q34294208)

1 August 2017

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title

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

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1 August 2017

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Uitto J

1

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PubMed ID

11427982

1 August 2017

Pulkkinen L

series ordinal

2

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PubMed ID

11427982

1 August 2017

Ringpfeil F

series ordinal

3

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1 August 2017

1 January 2001

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Trends in Molecular Medicine

1 August 2017

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1 August 2017

7

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1 August 2017

1

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1 August 2017

13-17

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Pseudoxanthoma elasticum: an update

1 August 2017

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https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

Workshop on pseudoxanthoma elasticum: molecular biology and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, Pennsylvania, June 10, 1992

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

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https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

Mutations in ABCC6 cause pseudoxanthoma elasticum

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https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

The multidrug resistance protein family.

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https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

Transport function and hepatocellular localization of mrp6 in rat liver

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https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

Molecular mechanisms of cutaneous aging: connective tissue alterations in the dermis

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

Pseudoxanthoma elasticum. An underdiagnosed genetically heterogeneous disorder with protean manifestations

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

Pseudoxanthoma elasticum: high calcium intake in early life correlates with severity

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

Periumbilical pseudoxanthoma elasticum associated with chronic renal failure and angioid streaks--apparent regression with hemodialysis

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

Functional multidrug resistance protein (MRP1) lacking the N-terminal transmembrane domain

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2800%2901869-4

7 January 2021

10.1016/S1471-4914(00)01869-4

Identifiers

DOI

1 reference

1 August 2017

1 reference

PubMed ID

11427982