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CRLF1 and CLCF1 in Development, Health and Disease

International journal of molecular sciences, 2022-01, Vol.23 (2), p.992

2022

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Genetics in Arterial Calcification: Lessons Learned From Rare Diseases

Trends in cardiovascular medicine, 2012-08, Vol.22 (6), p.145-149

2012

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A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

American journal of human genetics, 2015-02, Vol.96 (2), p.275-282

2015

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ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP

Experimental and Molecular Medicine, 2018, 50(0), , pp.1-12

2018

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Improved Reversion of Calcifications in Porcine Aortic Heart Valves Using Elastin-Targeted Nanoparticles

International journal of molecular sciences, 2023-11, Vol.24 (22), p.16471

2023

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SAMHD1-deficient CD14+ cells from individuals with Aicardi-Goutières syndrome are highly susceptible to HIV-1 infection

PLoS pathogens, 2011-12, Vol.7 (12), p.e1002425-e1002425

2011

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Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

Nature genetics, 2012-10, Vol.44 (10), p.1152-1155

2012

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Future treatments for the arteriopathy of ectopic calcification disorders

Frontiers in drug discovery, 2023-11, Vol.3

2023

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Modulators of networks: molecular targets of arterial calcification identified in man and mice

Current pharmaceutical design, 2014-01, Vol.20 (37), p.5839

2014

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ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification

PLoS genetics, 2022-04, Vol.18 (4), p.e1010192-e1010192

2022

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Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases

Orphanet journal of rare diseases, 2022-12, Vol.17 (1), p.421-421, Article 421

2022

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MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum

Journal of interferon & cytokine research, 2017-05, Vol.37 (5), p.214

2017

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Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial

Orphanet journal of rare diseases, 2021-08, Vol.16 (1), p.341-341, Article 341

2021

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The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

Scientific reports, 2021-09, Vol.11 (1), p.19300-19300, Article 19300

2021

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P034: Reduction of blood phenylalanine in participants enrolled in OPAL, an observational study, mirror findings from the US-based PRISM population

Genetics in Medicine Open, 2024, Vol.2, p.100911

2024

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Endogenous Calcification Inhibitors in the Prevention of Vascular Calcification: A Consensus Statement From the COST Action EuroSoftCalcNet

Frontiers in cardiovascular medicine, 2019-01, Vol.5, p.196

2019

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Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

Nature genetics, 2009-02, Vol.41 (2), p.234-239

2009

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Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

Scientific reports, 2021-10, Vol.11 (1), p.20618-20618, Article 20618

2021

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Npp1 promotes atherosclerosis in ApoE knockout mice

Journal of cellular and molecular medicine, 2011-11, Vol.15 (11), p.2273-2283

2011

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Cerebral vasculopathy is a common feature in Aicardi–Goutières syndrome associated with SAMHD1 mutations

Proceedings of the National Academy of Sciences - PNAS, 2011-06, Vol.108 (26), p.E232-E232; author reply E233

2011

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Generation of three induced pluripotent cell lines (iPSCs) from an Aicardi–Goutières syndrome (AGS) patient harboring a deletion in the genomic locus of the sterile alpha motif and HD domain containing protein 1 (SAMHD1)

Stem cell research, 2020-03, Vol.43, p.101697-101697, Article 101697

2020

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Hereditary Disorders of Cardiovascular Calcification

Arteriosclerosis, thrombosis, and vascular biology, 2021-01, Vol.41 (1), p.35

2021

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Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

Nutrients, 2019-10, Vol.11 (11), p.2572

2019

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Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line

Stem cell research, 2020-07, Vol.46, p.101855-101855, Article 101855

2020

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Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual

Stem cell research, 2020-07, Vol.46, p.101820-101820, Article 101820

2020

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CRLF1 and CLCF1 in Development, Health and Disease

Genetics in Arterial Calcification: Lessons Learned From Rare Diseases

A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP

Improved Reversion of Calcifications in Porcine Aortic Heart Valves Using Elastin-Targeted Nanoparticles

SAMHD1-deficient CD14+ cells from individuals with Aicardi-Goutières syndrome are highly susceptible to HIV-1 infection

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

Future treatments for the arteriopathy of ectopic calcification disorders

Modulators of networks: molecular targets of arterial calcification identified in man and mice

ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification

Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases

MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

P034: Reduction of blood phenylalanine in participants enrolled in OPAL, an observational study, mirror findings from the US-based PRISM population

Endogenous Calcification Inhibitors in the Prevention of Vascular Calcification: A Consensus Statement From the COST Action EuroSoftCalcNet

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

Npp1 promotes atherosclerosis in ApoE knockout mice

Cerebral vasculopathy is a common feature in Aicardi–Goutières syndrome associated with SAMHD1 mutations

Generation of three induced pluripotent cell lines (iPSCs) from an Aicardi–Goutières syndrome (AGS) patient harboring a deletion in the genomic locus of the sterile alpha motif and HD domain containing protein 1 (SAMHD1)

Hereditary Disorders of Cardiovascular Calcification

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line

Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual

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