Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations (Q35470305)

8 August 2017

title

Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations (English)

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8 August 2017

7

Jouni Uitto

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8 August 2017

Liang Jin

1

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8 August 2017

Qiujie Jiang

2

1 reference

8 August 2017

Zhengsheng Wu

3

1 reference

8 August 2017

Changxia Shao

4

1 reference

8 August 2017

Yong Zhou

5

1 reference

8 August 2017

Luting Yang

6

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8 August 2017

Gang Wang

8

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8 August 2017

language of work or name

English

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publication date

23 January 2015

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Journal of Investigative Dermatology

8 August 2017

published in

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8 August 2017

volume

135

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8 August 2017

issue

5

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8 August 2017

page(s)

1294-1302

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PSEUDOXANTHOMA ELASTICUM: DIAGNOSTIC FEATURES, CLASSIFICATION, AND TREATMENT OPTIONS.

8 August 2017

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Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo; pharmacological correction of the mislocalized proteins

12 July 2018

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Cole Disease Results from Mutations in ENPP1.

12 July 2018

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Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum

12 July 2018

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Paediatric pseudoxanthoma elasticum with cardiovascular involvement

12 July 2018

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Premature termination codon read-through in the ABCC6 gene: potential treatment for pseudoxanthoma elasticum

12 July 2018

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Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes

12 July 2018

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ABCC6 is a basolateral plasma membrane protein.

12 July 2018

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Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum

12 July 2018

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Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations

12 July 2018

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Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin

12 July 2018

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Molecular diagnosis of generalized arterial calcification of infancy (GACI)

12 July 2018

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Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene

12 July 2018

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Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

12 July 2018

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Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy

12 July 2018

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12 July 2018

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Mutation analysis (ABCC6) in a family with pseudoxanthoma elasticum: presymptomatic testing with prognostic implications

12 July 2018

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Overexpression of fetuin-a counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6(-/-)).

12 July 2018

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Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms

12 July 2018

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

12 July 2018

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Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

12 July 2018

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

12 July 2018

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

12 July 2018

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

12 July 2018

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Mutations in ABCC6 cause pseudoxanthoma elasticum

12 July 2018

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Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

12 July 2018

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

12 July 2018

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Pseudoxanthoma elasticum: progress in research toward treatment: summary of the 2012 PXE international research meeting

12 July 2018

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Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.

26 September 2018

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Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks.

26 September 2018

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Transcriptional regulation and characterization of the promoter region of the human ABCC6 gene

26 September 2018

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Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa

26 September 2018

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

26 September 2018

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26 September 2018

Pseudoxanthoma elasticum

1 reference

12 December 2020

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

12 December 2020

The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)

1 reference

12 December 2020

Contribution ofABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Calcification of the placenta in a woman with pseudoxanthoma elasticum with a mutation of the ABCC6 gene

1 reference

12 December 2020

Identifiers

DOI

10.1038/JID.2015.10

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Dimensions Publication ID

8 August 2017

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8 August 2017

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