Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter (Q24681737)

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M G Lebwohl

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A M Christiano

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J Uitto

Proceedings of the National Academy of Sciences of the United States of America

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language of work or name

English

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publication date

23 May 2000

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published in

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volume

97

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issue

11

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page(s)

6001-6

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cites work

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

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

7 April 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

7 April 2017

https://api.crossref.org/works/10.1073%2FPNAS.100041297

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

Cloning and characterization of a novel human cDNA that has DNA similarity to the conserved region of the collagenase gene family

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

PSEUDOXANTHOMA ELASTICUM: A CLINICAL AND HISTOPATHOLOGICAL STUDY

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

Expression of multidrug resistance protein-3 (multispecific organic anion transporter-D) in human embryonic kidney 293 cells confers resistance to anticancer agents.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

Multidrug resistance protein MRP1, glutathione, and related enzymes. Their importance in acute myeloid leukemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

Frontiers in research on cystic fibrosis: understanding its molecular and chemical basis and relationship to the pathogenesis of the disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

Function, evolution and structure of multidrug resistance protein (MRP).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

Pseudoxanthoma elasticum. An underdiagnosed genetically heterogeneous disorder with protean manifestations

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

Cardiovascular manifestations of Pseudoxanthoma elasticum

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18548

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

30 May 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.100041297

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/10.1073%2FPNAS.100041297

Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.100041297

Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE)

1 reference

12 December 2020

1 reference

12 December 2020

Pseudoxanthoma elasticum

1 reference

12 December 2020

Brief report: occult pseudoxanthoma elasticum in patients with premature cardiovascular disease

1 reference

12 December 2020

Transport of glutathione, glucuronate, and sulfate conjugates by the MRP gene-encoded conjugate export pump

1 reference

12 December 2020

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

1 reference

12 December 2020

T cell receptor clonotypes in skin lesions from patients with systemic lupus erythematosus

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.100041297

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1073/PNAS.100041297

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ADS bibcode

2000PNAS...97.6001R

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1 reference

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PubMed publication ID

10811882

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