Frequent Mutation in the ABCC6 Gene (R1141X) Is Associated With a Strong Increase in the Prevalence of Coronary Artery Disease

Mutations in ABCC6 cause pseudoxanthoma elasticum

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Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

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Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter

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MRP6 (ABCC6) Detection in Normal Human Tissues and Tumors

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A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum

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Classification of pseudoxanthoma elasticum: Report of a consensus conference

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Elastic tissue abnormalities resembling pseudoxanthoma elasticum in β thalassemia and the sickling syndromes

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Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

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Cardiovascular manifestations of Pseudoxanthoma elasticum.

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Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum

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Postmortem genetic testing in sudden unexplained death: A public health laboratory experience

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Successful revascularization of advanced coronary artery disease associated with pseudoxanthoma elasticum

Anzai, F., Kunii, H., Kanno, Y., Kamioka, M., Kobayashi, A., Suzuki, H., Saitoh, S., & Takeishi, Y. (2017) · Journal of Cardiology Cases · doi:10.1016/j.jccase.2017.05.001 · Cited by 4

Genetic variants in cardiac calcification in Northern Sweden

Hellman, U., Mörner, S., & Henein, M. Y. (2019) · Medicine · doi:10.1097/md.0000000000015065 · Cited by 4

Pseudodominante Vererbung von Pseudoxanthoma elasticum

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ABC Transporters in Human Disease

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The prevalence of pseudoxanthoma elasticum–like connective tissue changes in an oral biopsy service and review of the literature

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Genetics and molecular biology

Ikonen, E. (2003) · Current Opinion in Lipidology · doi:10.1097/00041433-200304000-00015 · Cited by 3

Intracranial atherosclerosis in pseudoxanthoma elasticum: A case-control study

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ABCC6 Heterozygosity as Genetic Predisposition to Cerebrovascular Disease Across Ages

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Unexpected ABCC6 mRNA splicing in a Chinese family with pseudoxanthoma elasticum

Sun, Q., Wang, W., Wu, L., Cheng, L., Tong, X., & Xu, X. (2018) · Acta Ophthalmologica · doi:10.1111/aos.13819 · Cited by 2

Atherogenic Diet Accelerates Ectopic Mineralization in a Mouse Model of Pseudoxanthoma Elasticum

Zhao, J.-Y., Kingman, J., Jacobs, I. J., Uitto, J., Cao, Y., & Li, Q. (2020) · International Journal of Dermatology and Venereology · doi:10.1097/jd9.0000000000000086 · Cited by 2

Genetics and molecular biology

Ikonen, E. (2005) · Current Opinion in Lipidology · doi:10.1097/01.mol.0000194124.15216.e4 · Cited by 2

A Unique Case of a Child with Two Rare Hereditary Diseases: Familial Dilated Cardiomyopathy and Arterial Calcification

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Lipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies

Derudder, R., & Vanakker, O. M. (2025) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.70129 · Cited by 1

ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel disease

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Bayesian Latent Variable Collapsing Model for Detecting Rare Variant Interaction Effect in Twin Study

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Cardiovascular Calcification in Systemic Diseases

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Genetics and molecular biology

Ikonen, E. (2003) · Current Opinion in Lipidology · doi:10.1097/00041433-200304000-00014 · Cited by 1

Arterial Calcification as a Pseudoxanthoma Elasticum-like Manifestation in Beta-Thalassemia: Molecular Mechanisms and Significance

Zedde, M., & Pascarella, R. (2025) · Hemato · doi:10.3390/hemato6010007 · Cited by 1

Lax skin and blurring of vision- A case report of pseudoxanthoma elasticum

Narasimhan, M., Ramachandran, R., Gnanadurai, J. S. C., Durai, P. C. T., Kalaivani, P., & Nithila, C. (2022) · Journal of Family Medicine and Primary Care · doi:10.4103/jfmpc.jfmpc_2337_21 · Cited by 1

ABC Drug Transporters and Their Impact on Drug Disposition/Drug Sensitivity and Resistance

Wolf, S. J., & Lee, C. G. L. (2012) · Encyclopedia of Drug Metabolism and Interactions · doi:10.1002/9780470921920.edm025 · Cited by 1

Sur quels arguments doit-on faire aujourd’hui le diagnostic de pseudoxanthome élastique ?

Martin, L., & Chassaing, N. (2006) · Annales de Dermatologie et de Vénéréologie · doi:10.1016/s0151-9638(06)71078-x · Cited by 1

Analysis of ABCC6: elucidation of the molecular pathology of pseudoxanthoma elasticum

Hu, X. (2003) · RePub (Erasmus University Rotterdam)

Les principaux syndromes du vieillissement cutané chez l'enfant.

Khouita, H. (2015) · Toubkal · doi:10.83129/toubkal-13694

Clinical and genetic aspects of pseudoxanthoma elasticum

Plomp, A. S. (2009) · UvA-DARE (University of Amsterdam)

Compound heterozygosity for a novel and a recurrent ABCC6 gene mutation in an Italian family with Pseudoxanthoma elasticum

Drera, B. A., Brezzi, A., Zoppi, N., Venturini, M., Barlati, S., Calzavara‐Pinton, P., & Colombi, M. (2007) · Journal of Dermatological Science · doi:10.1016/j.jdermsci.2007.09.006

Disease Presenting as Autosomal Recessive Hypercholesterolemia Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage

Hovingh, G. K., Gabriel, S., Defesche, J. C., Nederveen, A. J., Schunkert, H., Erdmann, J., Samani, N. J., Charnas, L. R., Farrall, M., Watkins, H. C., et al. (2013)

mutations ABCC6 novel al and genetic update including 11 Pseudoxanthoma elasticum: a clinical,

Chassaing, N., Martin, L., Calvas, P., Bert, M. L., & Hovnanian, A. (2005)

Novel clinical and etiopathogenetic findings in Pseudoxanthoma elasticum

Vanakker, O. M. (2009) · Ghent University Academic Bibliography (Ghent University)

Pseudoxanthoma elasticum - rare hereditary disease with coronary and organ calcifications (RCD code: I-2.A.0)

Kanazirev, B., Konstantinova, D. A., Tomov, G., & Kovachev, S. M. (2013) · Journal of Rare Cardiovascular Diseases · doi:10.20418/jrcd.vol1no2.82

Lipidanyagcsere zavarok fokozott atherosclerosissal járó betegségekben, klinikai és molekuláris genetikai vizsgálatok

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ABCC6 Out From the Cold: Identification of the ABCC6 Substrate as a Therapy for Pseudoxanthoma Elasticum and Cardiovascular Disease.

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The Prevalence of Pseudoxanthoma Elasticum-like Connective Tissue Changes in an Oral Biopsy Service

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Pseudoxanthoma Elasticum

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Introduction

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Inherited defects of connective tissue: Ehlers–Danlos syndrome, Marfan’s syndrome, and pseudoxanthoma elasticum

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Primaire ectopische mineralisatieaandoeningen: van (vaat)verkalking tot syndroom

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DIAGNOSTIC AND THERAPEUTIC CHALLENGES

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Atypical angioid streaks in a patient with a monoallelic ABCC6 mutation

Rohowetz, L. J., Sengillo, J. D., & Berrocal, A. M. (2024) · Ophthalmic Genetics · doi:10.1080/13816810.2024.2444699

Disorders and mechanisms of ectopic calcification

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Calcification ectopique et homéostasie du pyrophosphate dans le Pseudoxanthome Elastique (PXE) : vers la compréhension du rôle de la protéine ABCC6 et stratégie thérapeutique

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ABCC6 in Cellular Metabolic Homeostasis: Biochemical Links to Extracellular Nucleotide Signaling, Mitochondrial Stress, and Senescence

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Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype

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The R1141X Loss-of-Function Mutation of the ABCC6 Gene Is a Strong Genetic Risk Factor for Coronary Artery Disease

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Mutation affecting arterial elasticity associated with premature heart disease

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Heterozygosity for R1141X in ABCC6 and Risk of Ischemic Vascular Disease

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Analysis of the Frequent R1141X Mutation in the ABCC6 Gene in Pseudoxanthoma Elasticum

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