(Q39199332)

English

Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016.

scientific article published on April 2017

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

5 July 2018

http://europepmc.org/abstract/PMC/5831331

Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016. (English)

1 reference

Europe PubMed Central

PMC publication ID

5 July 2018

http://europepmc.org/abstract/PMC/5831331

1

object named as

Jouni Uitto

1 reference

Europe PubMed Central

PMC publication ID

5 July 2018

Sharon F. Terry

5

object named as

Sharon F Terry

1 reference

Europe PubMed Central

PMC publication ID

5 July 2018

http://europepmc.org/abstract/PMC/5831331

author name string

Qiaoli Li

2

1 reference

Europe PubMed Central

PMC publication ID

5 July 2018

http://europepmc.org/abstract/PMC/5831331

Koen van de Wetering

3

1 reference

Europe PubMed Central

PMC publication ID

5 July 2018

http://europepmc.org/abstract/PMC/5831331

András Váradi

4

1 reference

Europe PubMed Central

PMC publication ID

5 July 2018

http://europepmc.org/abstract/PMC/5831331

language of work or name

0 references

publication date

1 April 2017

1 reference

Europe PubMed Central

PMC publication ID

5 July 2018

http://europepmc.org/abstract/PMC/5831331

Journal of Investigative Dermatology

1 reference

Europe PubMed Central

PMC publication ID

5 July 2018

http://europepmc.org/abstract/PMC/5831331

137

1 reference

Europe PubMed Central

PMC publication ID

5 July 2018

http://europepmc.org/abstract/PMC/5831331

4

1 reference

Europe PubMed Central

PMC publication ID

5 July 2018

http://europepmc.org/abstract/PMC/5831331

790-795

1 reference

Europe PubMed Central

PMC publication ID

5 July 2018

http://europepmc.org/abstract/PMC/5831331

Stabilization of Nucleotide Binding Domain Dimers Rescues ABCC6 Mutants Associated with Pseudoxanthoma Elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Calcium Pyrophosphate Deposition Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Dual Effects of Bisphosphonates on Ectopic Skin and Vascular Soft Tissue Mineralization versus Bone Microarchitecture in a Mouse Model of Generalized Arterial Calcification of Infancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Alkaline Phosphatase and Hypophosphatasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Juxta-articular joint-capsule mineralization in CD73 deficient mice: similarities to patients with NT5E mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Spontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: a large deletion/insertion mutation in the Enpp1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Vascular calcification is dependent on plasma levels of pyrophosphate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

The level of hepatic ABCC6 expression determines the severity of calcification after cardiac injury

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Fibroblasts from patients affected by Pseudoxanthoma elasticum exhibit an altered PPi metabolism and are more responsive to pro-calcifying stimuli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Mineralization/anti-mineralization networks in the skin and vascular connective tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Genetics in arterial calcification: lessons learned from rare diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

A single-nucleotide polymorphism in the Abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-) ).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

A novel animal model for pseudoxanthoma elasticum: the KK/HlJ mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Mechanisms of ATP release and signalling in the blood vessel wall

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Expression and in vivo rescue of human ABCC6 disease-causing mutants in mouse liver

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

NT5E mutations and arterial calcifications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Treatment with pyrophosphate inhibits uremic vascular calcification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Bisphosphonates: mechanism of action and role in clinical practice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

10 July 2018

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=5831331

10 July 2018

Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

21 August 2018

ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831331

21 August 2018

Pseudoxanthoma elasticum

1 reference

https://pubmed.ncbi.nlm.nih.gov/28340679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pyrophosphates as a major inhibitor of matrix calcification in Pseudoxanthoma elasticum

1 reference

https://pubmed.ncbi.nlm.nih.gov/28340679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.JID.2016.12.014

1 reference

Europe PubMed Central

PMC publication ID

5 July 2018

http://europepmc.org/abstract/PMC/5831331

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

5 July 2018

http://europepmc.org/abstract/PMC/5831331

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

5 July 2018

http://europepmc.org/abstract/PMC/5831331

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