Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1 (Q28115649)

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English	Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1	scientific journal article

Statements

scholarly article

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3 January 2017

Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1 (English)

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3 January 2017

Ectonucleotide pyrophosphatase/phosphodiesterase 1

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GOA release 2020-03-11

5

object named as

Frank Rutsch

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3 January 2017

author name string

Jacqueline Stella

1

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3 January 2017

Insa Buers

2

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3 January 2017

Koen van de Wetering

3

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3 January 2017

Wolfgang Höhne

4

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3 January 2017

Yvonne Nitschke

6

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3 January 2017

language of work or name

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based on heuristic

inferred from title

publication date

1 November 2016

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3 January 2017

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3 January 2017

37

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3 January 2017

11

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3 January 2017

1190–1201

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3 January 2017

Pyrophosphate inhibits mineralization of osteoblast cultures by binding to mineral, up-regulating osteopontin, and inhibiting alkaline phosphatase activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

In silico analysis of the two tandem somatomedin B domains of ENPP1 reveals hints on the homodimerization of the protein.

1 reference

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21 January 2018

Idiopathic arterial calcification of infancy: prenatal and postnatal effects of therapy in an infant

1 reference

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21 January 2018

Characterization of a di-leucine-based signal in the cytoplasmic tail of the nucleotide-pyrophosphatase NPP1 that mediates basolateral targeting but not endocytosis

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21 January 2018

Nucleotide pyrophosphatases/phosphodiesterases on the move

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21 January 2018

Idiopathic arterial calcification of infancy: effectiveness of prostaglandin infusion for treatment of secondary hypertension refractory to conventional therapy: case report

1 reference

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21 January 2018

The Q allele variant (GLN121) of membrane glycoprotein PC-1 interacts with the insulin receptor and inhibits insulin signaling more effectively than the common K allele variant (LYS121)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Cole Disease Results from Mutations in ENPP1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Structural and catalytic similarities between nucleotide pyrophosphatases/phosphodiesterases and alkaline phosphatases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Functional characterization of the non-catalytic ectodomains of the nucleotide pyrophosphatase/phosphodiesterase NPP1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Physiological and pathophysiological functions of the ecto-nucleotide pyrophosphatase/phosphodiesterase family

1 reference

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21 January 2018

Quality and quantity control at the endoplasmic reticulum

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21 January 2018

Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization

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21 January 2018

Idiopathic infantile arterial calcification presenting as fatal hypertensive cardiomyopathy

1 reference

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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

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21 January 2018

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

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https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Structure of NPP1, an ectonucleotide pyrophosphatase/phosphodiesterase involved in tissue calcification

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https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Linked deficiencies in extracellular PP(i) and osteopontin mediate pathologic calcification associated with defective PC-1 and ANK expression

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https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Chondrogenesis mediated by PPi depletion promotes spontaneous aortic calcification in NPP1-/- mice

1 reference

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21 January 2018

Differential mechanisms of inorganic pyrophosphate production by plasma cell membrane glycoprotein-1 and B10 in chondrocytes

1 reference

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21 January 2018

Crystal structure of Enpp1, an extracellular glycoprotein involved in bone mineralization and insulin signaling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Image in cardiovascular medicine. Prenatal diagnosis of idiopathic infantile arterial calcification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Membrane glycoprotein PC-1 inhibition of insulin receptor function occurs via direct interaction with the receptor alpha-subunit

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Ectonucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1) protein regulates osteoblast differentiation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Expression of NPP1 is regulated during atheromatous plaque calcification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Genetics in arterial calcification: lessons learned from rare diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Npp1 promotes atherosclerosis in ApoE knockout mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Idiopathic arterial calcification in childhood.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.

1 reference

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21 January 2018

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

1 reference

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21 January 2018

Physiologic and pathologic functions of the NPP nucleotide pyrophosphatase/phosphodiesterase family focusing on NPP1 in calcification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Subcellular targeting and function of osteoblast nucleotide pyrophosphatase phosphodiesterase 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

Idiopathic infantile arterial calcification: Sonographic findings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23057

21 January 2018

The K121Q Polymorphism of the ENPP1/PC-1 Gene Is Associated With Insulin Resistance/Atherogenic Phenotypes, Including Earlier Onset of Type 2 Diabetes and Myocardial Infarction

1 reference

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7 January 2021

based on heuristic

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The K121Q polymorphism of ENPP1 and peripheral arterial disease

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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7 January 2021

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Threonine autophosphorylation and nucleotidylation of the hepatic membrane protein PC-1

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.23057

0 references

1 reference

3 January 2017

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