(Q34113251)

English

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

31 July 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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

1 reference

based on heuristic

inferred from title

author name string

F Ringpfeil

1

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

A Nakano

2

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

J Uitto

3

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

L Pulkkinen

4

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

language of work or name

0 references

publication date

9 February 2001

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

68

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

642-652

1 reference

Europe PubMed Central

PubMed publication ID

31 July 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=1274477

5 July 2018

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=1274477

5 July 2018

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=1274477

5 July 2018

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=1274477

5 July 2018

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=1274477

5 July 2018

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=1274477

5 July 2018

High frequency of large intragenic deletions in the Fanconi anemia group A gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

5 July 2018

Pseudoxanthoma elasticum: an update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

5 July 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=1274477

5 July 2018

Characterization of the human multidrug resistance protein isoform MRP3 localized to the basolateral hepatocyte membrane

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

5 July 2018

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=1274477

5 July 2018

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

5 July 2018

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=1274477

5 July 2018

The partial tandem duplication of ALL1 (MLL) is consistently generated by Alu-mediated homologous recombination in acute myeloid leukemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

5 July 2018

Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

5 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

5 July 2018

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

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

5 July 2018

https://pubmed.ncbi.nlm.nih.gov/11179012

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

5 July 2018

Matrix proteins with high affinity for calcium ions are associated with mineralization within the elastic fibers of pseudoxanthoma elasticum dermis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

5 July 2018

Founding mutations and Alu-mediated recombination in hereditary colon cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

5 July 2018

Elastic fibers in human skin: quantitation of elastic fibers by computerized digital image analyses and determination of elastin by radioimmunoassay of desmosine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

5 July 2018

Pseudoxanthoma elasticum. An underdiagnosed genetically heterogeneous disorder with protean manifestations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

5 July 2018

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

5 July 2018

Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

5 July 2018

Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

5 July 2018

Cardiovascular manifestations of Pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

28 October 2018

An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274477

28 October 2018

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/11179012

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pseudoxanthoma elasticum: dermal polyanions and the mineralization of elastic fibers

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179012

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pseudoxanthoma elasticum

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179012

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179012

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179012

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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