(Q28542530)

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

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scholarly article

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

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Ectonucleotide pyrophosphatase/phosphodiesterase 1

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GOA release 2020-03-11

arterial calcification of infancy

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based on heuristic

inferred from title

7

object named as

Jouni Uitto

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1

object named as

Qiaoli Li

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author name string

C Herbert Pratt

2

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Louise A Dionne

3

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Heather Fairfield

4

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Son Yong Karst

5

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John P Sundberg

6

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language of work or name

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publication date

2014

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9

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12

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e113542

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copyright license

Creative Commons Attribution 4.0 International

5 December 2014

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April 2022 Public Data File from Crossref

copyright status

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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=4257536

19 March 2017

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=4257536

19 March 2017

Characterization of transport mechanisms and determinants critical for Na+-dependent Pi symport of the PiT family paralogs human PiT1 and PiT2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4257536

19 March 2017

Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4257536

19 March 2017

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=4257536

29 September 2017

Zebrafish enpp1 mutants exhibit pathological mineralization, mimicking features of generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4257536

29 September 2017

A new Enpp1 allele, Enpp1(ttw-Ham), identified in an ICR closed colony

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4257536

29 September 2017

Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6(tm1Jfk) and Enpp1(asj) mutant mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4257536

29 September 2017

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=4257536

29 September 2017

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=4257536

29 September 2017

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=4257536

29 September 2017

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=4257536

29 September 2017

New insights into NPP1 function: lessons from clinical and animal studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4257536

29 September 2017

Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4257536

29 September 2017

Sodium-dependent phosphate cotransporters: lessons from gene knockout and mutation studies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4257536

29 September 2017

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=4257536

29 September 2017

Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4257536

29 September 2017

The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4257536

29 September 2017

Plasma pyrophosphate and vascular calcification in chronic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4257536

29 September 2017

New variants in the Enpp1 and Ptpn6 genes cause low BMD, crystal-related arthropathy, and vascular calcification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4257536

29 September 2017

Pseudoxanthoma elasticum: oxidative stress and antioxidant diet in a mouse model (Abcc6-/-).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4257536

29 September 2017

Role of the progressive ankylosis gene in cartilage mineralization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4257536

29 September 2017

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=4257536

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4257536

29 September 2017

Mutant Enpp1asj mice as a model for 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=4257536

3 June 2018

Using a filtration technique to isolate platelet free plasma for assaying pyrophosphate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4257536

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4257536

3 June 2018

Quantification of the calcification phenotype of Abcc6-deficient mice with microcomputed tomography

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0113542

21 January 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://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0113542

21 January 2018

Generalized arterial calcification of infancy: treatment with bisphosphonates

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0113542

21 January 2018

Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0113542

21 January 2018

Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0113542

21 January 2018

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10.1371/JOURNAL.PONE.0113542

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2014PLoSO...9k3542L

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