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Mitochondrial Dysfunction and Oxidative Stress in Hereditary Ectopic Calcification Diseases

International journal of molecular sciences, 2022-12, Vol.23 (23), p.15288

2022

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Minocycline Counteracts Ectopic Calcification in a Murine Model of Pseudoxanthoma Elasticum: A Proof-of-Concept Study

International journal of molecular sciences, 2022-02, Vol.23 (3), p.1838

2022

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Significance of Premature Vertebral Mineralization in Zebrafish Models in Mechanistic and Pharmaceutical Research on Hereditary Multisystem Diseases

Biomolecules (Basel, Switzerland), 2023-11, Vol.13 (11), p.1621

2023

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Chikungunya outbreak in Bangladesh (2017): Clinical and hematological findings

PLoS neglected tropical diseases, 2020-02, Vol.14 (2), p.e0007466-e0007466

2020

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GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations

International journal of molecular sciences, 2017-02, Vol.18 (2), p.240-240

2017

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Genetic counseling in the context of Bangladesh: current scenario, challenges, and a framework for genetic service implementation

Orphanet journal of rare diseases, 2021-04, Vol.16 (1), p.168-168, Article 168

2021

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Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review

Current issues in molecular biology, 2024-09, Vol.46 (9), p.9998-10007

2024

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Characterization of cardiovascular involvement in pseudoxanthoma elasticum families

Arteriosclerosis, thrombosis, and vascular biology, 2013-11, Vol.33 (11), p.2646-2652

2013

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Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype

Journal of clinical medicine, 2023-02, Vol.12 (5), p.1893

2023

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Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter

PloS one, 2014-07, Vol.9 (7), p.e102779-e102779

2014

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Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

Molecular genetics and metabolism, 2014-11, Vol.113 (3), p.230-235

2014

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The Activation of JAK/STAT3 Signaling and the Complement System Modulate Inflammation in the Primary Human Dermal Fibroblasts of PXE Patients

Biomedicines, 2023-09, Vol.11 (10), p.2673

2023

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Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome

Laboratory investigation, 2010-06, Vol.90 (6), p.895-905

2010

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Serum Calcification Propensity T50 Associates with Disease Severity in Patients with Pseudoxanthoma Elasticum

Journal of clinical medicine, 2022-06, Vol.11 (13), p.3727

2022

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Morpholino-Mediated Gene Knockdown in Zebrafish: It Is All About Dosage and Validation

Journal of investigative dermatology, 2019-07, Vol.139 (7), p.1599-1600

2019

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From membrane to mineralization: the curious case of the ABCC6 transporter

FEBS letters, 2020-12, Vol.594 (23), p.4109-4133

2020

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Minocycline Attenuates Excessive DNA Damage Response and Reduces Ectopic Calcification in Pseudoxanthoma Elasticum

Journal of investigative dermatology, 2022-06, Vol.142 (6), p.1629-1638.e6

2022

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Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown-Rahman syndrome

European journal of human genetics : EJHG, 2023-12, Vol.31 (12), p.1350-1354

2023

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Rare Modifier Variants Alter the Severity of Cardiovascular Disease in Pseudoxanthoma Elasticum: Identification of Novel Candidate Modifier Genes and Disease Pathways Through Mixture of Effects Analysis

Frontiers in cell and developmental biology, 2021-06, Vol.9, p.612581-612581

2021

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Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines

Journal of medical genetics, 2022-05, Vol.59 (5), p.496-504

2022

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Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart

Human mutation, 2008-01, Vol.29 (1), p.205-205

2008

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Coordinated orphan disease research: yes, we can

Frontiers in genetics, 2013, Vol.4, p.207-207

Vanakker, Olivier M

2013

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Internal Carotid Artery Hypoplasia: A New Clinical Feature in Pseudoxanthoma Elasticum

Journal of stroke, 2019-01, Vol.21 (1), p.108-111

2019

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Phenotypic spectrum of the RBM10‐mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

Clinical genetics, 2021-03, Vol.99 (3), p.449-456

2021

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Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc

Genetics in medicine, 2021-01, Vol.23 (1), p.131-139

2021

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Mitochondrial Dysfunction and Oxidative Stress in Hereditary Ectopic Calcification Diseases

Minocycline Counteracts Ectopic Calcification in a Murine Model of Pseudoxanthoma Elasticum: A Proof-of-Concept Study

Significance of Premature Vertebral Mineralization in Zebrafish Models in Mechanistic and Pharmaceutical Research on Hereditary Multisystem Diseases

Chikungunya outbreak in Bangladesh (2017): Clinical and hematological findings

GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations

Genetic counseling in the context of Bangladesh: current scenario, challenges, and a framework for genetic service implementation

Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review

Characterization of cardiovascular involvement in pseudoxanthoma elasticum families

Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype

Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

The Activation of JAK/STAT3 Signaling and the Complement System Modulate Inflammation in the Primary Human Dermal Fibroblasts of PXE Patients

Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome

Serum Calcification Propensity T50 Associates with Disease Severity in Patients with Pseudoxanthoma Elasticum

Morpholino-Mediated Gene Knockdown in Zebrafish: It Is All About Dosage and Validation

From membrane to mineralization: the curious case of the ABCC6 transporter

Minocycline Attenuates Excessive DNA Damage Response and Reduces Ectopic Calcification in Pseudoxanthoma Elasticum

Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown-Rahman syndrome

Rare Modifier Variants Alter the Severity of Cardiovascular Disease in Pseudoxanthoma Elasticum: Identification of Novel Candidate Modifier Genes and Disease Pathways Through Mixture of Effects Analysis

Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart

Coordinated orphan disease research: yes, we can

Internal Carotid Artery Hypoplasia: A New Clinical Feature in Pseudoxanthoma Elasticum

Phenotypic spectrum of the RBM10‐mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc

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