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

No abstract is available for this paper.

• Publication year

  2005

• Venue

  Journal of Medical Genetics

• Publication date

  2005-05-13

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1136/jmg.2004.030171PMID 15894595PMCID PMC1735972
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa

  2005cited by this paper
• Abnormalities of connective tissue components in lesional and non-lesional tissue of patients with pseudoxanthoma elasticum

  2005cited by this paper
• [From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].

  2004cited by this paper
• High levels of desmosines in urine and plasma of patients with pseudoxanthoma elasticum

  2004cited by this paper
• Pregnancy and obstetrical outcomes in pseudoxanthoma elasticum

  2004cited by this paper
• Acquired disorders of elastic tissue: Part II. decreased elastic tissue.

  2004cited by this paper
• ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)

  2004cited by this paper
• Effect of selective enzymatic digestions on skin biopsies from pseudoxanthoma elasticum: An ultrastructural study

  2004cited by this paper
• Pseudoxanthoma elasticum-a connective tissue disease or a metabolic disorder at the genome/environment interface?

  2004influential reference
• Efficient Molecular Diagnostic Strategy for ABCC6 in Pseudoxanthoma Elasticum

  2004cited by this paper
• In patients with pseudoxanthoma elasticum a thicker and more elastic carotid artery is associated with elastin fragmentation and proteoglycans accumulation.

  2004cited by this paper
• Acquired disorders of elastic tissue: part I. Increased elastic tissue and solar elastotic syndromes.

  2004cited by this paper
• Novel ABCC6 mutations in pseudoxanthoma elasticum.

  2004cited by this paper
• Mammographic findings in pseudoxanthoma elasticum.

  2003cited by this paper
• Extracutaneous Ultrastructural Alterations in Pseudoxanthoma Elasticum

  2003cited by this paper
• Pseudoxanthoma elasticum: Temporary treatment of chin folds and lines with injectable collagen.

  2003cited by this paper
• ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum

  2003cited by this paper
• Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells.

  2003cited by this paper
• Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.

  2003cited by this paper
• Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update.

  2003cited by this paper
• The role of ABC transporters in clinical practice.

  2003cited by this paper
• Anomalous structure of urinary glycosaminoglycans in patients with pseudoxanthoma elasticum.

  2003cited by this paper
• Acquired Pseudoxanthoma elasticum‐like syndrome in β‐thalassaemia patients

  2003cited by this paper
• The Distribution of Abcc6 in Normal Mouse Tissues Suggests Multiple Functions for this ABC Transporter

  2003cited by this paper
• Prominent mental (chin) crease: a new sign of pseudoxanthoma elasticum.

  2003cited by this paper
• Pseudoxanthoma elasticum: is the left internal mammary artery a suitable conduit for coronary artery bypass grafting?

  2002cited by this paper
• Loss of ATP-dependent Transport Activity in Pseudoxanthoma Elasticum-associated Mutants of Human ABCC6 (MRP6)*

  2002cited by this paper
• Frequent Mutation in the ABCC6 Gene (R1141X) Is Associated With a Strong Increase in the Prevalence of Coronary Artery Disease

  2002cited by this paper
• Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes.

  2002cited by this paper
• MRP6 (ABCC6) Detection in Normal Human Tissues and Tumors

  2002cited by this paper
• Nucleotide binding and nucleotide hydrolysis properties of the ABC transporter MRP6 (ABCC6).

  2002cited by this paper
• Optic disc drusen, angioid streaks, and mottled fundus in various combinations in a Sicilian family

  2002cited by this paper
• Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6).

  2002cited by this paper
• Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa

  2002cited by this paper
• GUIDELINES FOR USING VERTEPORFIN (VISUDYNE®) IN PHOTODYNAMIC THERAPY TO TREAT CHOROIDAL NEOVASCULARIZATION DUE TO AGE-RELATED MACULAR DEGENERATION AND OTHER CAUSES

  2002cited by this paper
• Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with beta-thalassemia.

  2001cited by this paper
• Identification of novel polymorphisms in the pM5 and MRP1 (ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseudoxanthoma elasticum

  2001cited by this paper
• Expression of multiple cytochrome p450 enzymes and multidrug resistance-associated transport proteins in human skin keratinocytes.

  2001cited by this paper
• A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum

  2001cited by this paper
• Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.

  2001cited by this paper
• Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum

  2001cited by this paper
• Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring.

  2001cited by this paper
• Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11

  2001cited by this paper
• Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?

  2001cited by this paper
• Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6gene

  2001cited by this paper
• Macular translocation for subfoveal choroidal neovascularization in angioid streaks.

  2001cited by this paper
• ABC drug transporters: hereditary polymorphisms and pharmacological impact in MDR1, MRP1 and MRP2.

  2001cited by this paper
• A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

  2001cited by this paper
• Still life: cerebellar neurons in early apoptosis

  2000cited by this paper
• A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure

  2000cited by this paper
• Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

  2000cited by this paper
• Erratum: Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16 (Genomics (1999) 62: 1 (1))

  2000cited by this paper
• Mutations in ABCC6 cause pseudoxanthoma elasticum

  2000cited by this paper
• Pseudoxanthoma elasticum and calcinosis cutis.

  2000cited by this paper
• Abnormal phenotype of in vitro dermal fibroblasts from patients with Pseudoxanthoma elasticum (PXE).

  2000cited by this paper
• Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

  2000cited by this paper
• Sudden cardiac death owing to pseudoxanthoma elasticum: a case report.

  2000cited by this paper
• Transport function and hepatocellular localization of mrp6 in rat liver.

  2000cited by this paper
• Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.

  2000cited by this paper
• Indocyanine Green Angiographic Findings in Young Patients with Grönblad-Strandberg Syndrome

  2000cited by this paper
• Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE).

  1999cited by this paper
• Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16.

  1999cited by this paper
• MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver

  1999cited by this paper
• Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells.

  1999influential reference
• Pseudoxanthoma Elasticum of the Internal Mammary Artery

  1999cited by this paper
• The multidrug resistance protein family.

  1999cited by this paper
• Pseudoxanthoma elasticum: An Update

  1999cited by this paper
• Poster Session I: Epidemiology

  1999cited by this paper
• International Centennial Meeting on Pseudoxanthoma Elasticum: progress in PXE research.

  1998cited by this paper
• Acne-like eruption induced by pseudoxanthoma elasticum: effectiveness of liquid nitrogen cryotherapy.

  1998cited by this paper
• Molecular mechanisms of cutaneous aging: connective tissue alterations in the dermis.

  1998cited by this paper
• What Are Natural Retinoids?

  1998cited by this paper
• Comparison of fluorescein and indocyanine green angiography in angioid streaks

  1998cited by this paper
• New Report of Severe Coronary Artery Disease in an Eighteen-Year-Old Girl with Pseudoxanthoma Elasticum

  1997cited by this paper
• A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1.

  1997cited by this paper
• Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.

  1997cited by this paper
• Pseudoxanthoma elasticum with generalized cutaneous laxity.

  1997cited by this paper
• An unusual cutaneous manifestation of pseudoxanthoma elasticum mimicking reticulate pigmentary disorders

  1996cited by this paper
• Pseudoxanthoma elasticum: a rare cause of gastrointestinal bleeding.

  1996cited by this paper
• Proteoglycan alterations in skin fibroblast cultures from patients affected with pseudoxanthoma elasticum

  1996cited by this paper
• Classification of pseudoxanthoma elasticum: report of a consensus conference.

  1994cited by this paper
• Immunochemical identification of abnormal constituents in the dermis of pseudoxanthoma elasticum patients.

  1994cited by this paper
• Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family

  1994cited by this paper
• Brief report: occult pseudoxanthoma elasticum in patients with premature cardiovascular disease.

  1993cited by this paper
• Workshop on pseudoxanthoma elasticum: molecular biology and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, Pennsylvania, June 10, 1992.

  1992cited by this paper
• ABC transporters: from microorganisms to man.

  1992cited by this paper
• Pseudoxanthoma elasticum-like skin lesions and angioid streaks in beta-thalassemia.

  1992cited by this paper
• Mitral stenosis in pseudoxanthoma elasticum.

  1992cited by this paper
• Pseudoxanthoma elasticum‐like skin lesions and angioid streaks in β‐thalassemia

  1992cited by this paper
• Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families.

  1991cited by this paper
• Plastic Surgery in Pseudoxanthoma Elasticum: Experience in Nine Patients

  1990cited by this paper
• Coronary artery bypass in a 15-year-old girl with pseudoxanthoma elasticum.

  1990cited by this paper
• Management of upper gastrointestinal hemorrhage in patients with pseudoxanthoma elasticum.

  1989cited by this paper
• Clinics in dermatology: Pseudoxanthoma elasticum

  1989cited by this paper
• The mineralization of elastic fibers and alterations of extracellular matrix in pseudoxanthoma elasticum. Ultrastructure, immunocytochemistry, and X-ray analysis.

  1989cited by this paper
• Connective tissue biochemistry of the aging dermis. Age-associated alterations in collagen and elastin.

  1989cited by this paper
• Pseudoxanthoma Elasticum

  1988cited by this paper
• Diagnosis of pseudoxanthoma elasticum by scar biopsy in patients without characteristic skin lesions.

  1987cited by this paper
• Heritable syndrome of pseudoxanthoma elasticum with abnormal phosphorus and vitamin D metabolism.

  1987cited by this paper
• Connective tissue biochemistry of the aging dermis. Age-related alterations in collagen and elastin.

  1986cited by this paper

• ABCC6 Heterozygosity as Genetic Predisposition to Cerebrovascular Disease Across Ages.

  2026cites this paper
• Pseudoxanthoma elasticum

  2026cites this paper
• Effects of Ritonavir, Lopinavir, and Alcohol on ABC Transporters and Secretion of Bile Acid and Bilirubin in Senescent Hepatocytes

  2026cites this paper
• Threads of Elasticity: A Single Variant Journey Through Pseudoxanthoma Elasticum’s Clinical Maze

  2025cites this paper
• Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis

  2025cites this paper
• ABCC6 gene mutational spectrum and ocular features in Mexican patients with pseudoxanthoma elasticum-related angioid streaks

  2025cites this paper
• ABCC6 Involvement in Cerebral Small Vessel Disease: Potential Mechanisms and Associations

  2025cites this paper
• Arterial Calcification as a Pseudoxanthoma Elasticum-like Manifestation in Beta-Thalassemia: Molecular Mechanisms and Significance

  2025cites this paper
• Methylation profile of individuals with sickle cell trait

  2025cites this paper
• Cardiovascular Manifestations of Pseudoxanthoma Elasticum

  2025cites this paper
• The TEMP-PREVENT trial: a study protocol for a randomized, double-blind, placebo-controlled clinical trial of etidronate for treatment in young adult patients with pseudoxanthoma elasticum

  2025cites this paper
• Atypical angioid streaks in a patient with a monoallelic ABCC6 mutation

  2024cites this paper
• Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome

  2024cites this paper
• Pseudoxanthoma elasticum - Genetics, Pathophysiology, and Clinical Presentation.

  2024cites this paper
• Mutational spectrum and deep phenotyping in Pseudoxanthoma Elasticum: Findings from a Portuguese cohort

  2024cites this paper
• 2024 Guideline for the Primary Prevention of Stroke: A Guideline From the American Heart Association/American Stroke Association.

  2024cites this paper
• Anti-VEGF treatment for secondary neovascularization in pseudoxanthoma elasticum - age of onset, treatment frequency and visual outcome.

  2024cites this paper
• Cardiovascular Manifestations of Pseudoxanthoma Elasticum: Pathophysiology, Management, and Research.

  2024cites this paper
• The Purinergic Nature of Pseudoxanthoma Elasticum

  2024cites this paper
• Bone Marrow-Derived ABCC6 Is an Essential Regulator of Ectopic Calcification In PXE.

  2024cites this paper
• A case of peristomal pyoderma gangrenosum with histological features of pseudoxanthoma elasticum

  2024cites this paper
• Linear rash in an 11‐year‐old girl

  2023cites this paper
• Choriocapillaris Flow Signal Impairment in Patients With Pseudoxanthoma Elasticum

  2023cites this paper
• Rare neurovascular genetic and imaging markers across neurodegenerative diseases

  2023cites this paper
• Größer werdende gelbliche indurierte Plaques am Hals und in den Achselhöhlen

  2023cites this paper
• Progressive enlarging yellowish indurated plaques on the neck and armpits

  2023cites this paper
• Correlation of systemic involvement and presence of pathological skin calcification assessed by ex vivo nonlinear microscopy in Pseudoxanthoma elasticum

  2023cites this paper
• Role of elastic fiber degradation in disease pathogenesis

  2023cites this paper
• Pseudoxanthoma Elasticum With Comedones in a 12-Year-Old Female Patient: A Case Report

  2023influential citation
• Abcc6 deficiency prevents rhabdomyolysis-induced acute kidney injury

  2023cites this paper
• Future treatments for the arteriopathy of ectopic calcification disorders

  2023cites this paper
• Multidrug Resistance Protein 6 (ABCC6/MRP6) loss of function causing Pseudoxanthoma elasticum (PXE) is associated with Low-Phospholipid Associated Cholelithiasis (LPAC) features: is it time to reconsider the MRP6 role in bile secretion and LPAC genetic signature?

  2023cites this paper
• Whole-Chest Three-Dimensional Modeling Aids Hybrid Pulmonary Valve Replacement Following Double Switch Operation

  2022cites this paper
• Neurovascular Syndromes.

  2022cites this paper
• Late-onset focal dermal elastosis: Report of a case and review of the literature

  2022cites this paper
• Case report: Grönblad-Strandberg syndrome

  2022influential citation
• Towards a better understanding of non-exudative choroidal and macular neovascularization.

  2022cites this paper
• Mitochondrial Dysfunction and Oxidative Stress in Hereditary Ectopic Calcification Diseases

  2022cites this paper
• Pseudoxanthoma Elasticum

  2022cites this paper
• Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study

  2022influential citation
• Lax skin and blurring of vision- A case report of pseudoxanthoma elasticum

  2022cites this paper
• Pseudoxanthoma elasticum as a diagnostic challenge for pathologists: A rare case report

  2022cites this paper
• Pediatric Restrictive Cardiomyopathies

  2022cites this paper
• Intracranial atherosclerosis in pseudoxanthoma elasticum: A case-control study.

  2022cites this paper
• Massive Dilatation of the Ascending Aorta in a Patient With Generalized Arterial Calcification of Infancy

  2022cites this paper
• Restrictive cardiomyopathy: definition and diagnosis

  2022cites this paper
• An unusual case of longstanding mammary Paget disease presenting with reticulated skin changes

  2021cites this paper
• Systemic and Ocular Associations of Angioid Streaks:<br>a Teaching Case Report

  2021cites this paper
• Genotype-phenotype correlation in pseudoxanthoma elasticum.

  2021cites this paper
• Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines

  2021cites this paper
• Low concentration Phloxine B staining for high chemical contrast, nonlinear microscope mosaic imaging of skin alterations in pseudoxanthoma elasticum

  2021cites this paper
• A rare case report of elastosis perforans serpiginosa in acquired cutis laxa

  2021cites this paper
• Pseudoxanthoma Elasticum: Report of Two Cases

  2021cites this paper
• Periumbilical Perforating Pseudoxanthoma Elasticum / PPPXE – A Rare Case Report

  2021cites this paper
• Angioid Streaks in Pseudoxanthoma Elasticum

  2021influential citation
• ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions

  2021cites this paper
• A case report: pseudoxanthoma elasticum diagnosed based on ocular angioid streaks and the curative effect of Conbercept treatment

  2021cites this paper
• Elastic fibers during aging and disease.

  2021influential citation
• Elastic fibers: formation, function, and fate during aging and disease

  2021cites this paper
• A meta-analysis of prognostic biomarkers in neonatal retinal hemorrhage

  2021cites this paper
• Pseudoxanthoma elasticum exhibiting heart failure associated with severe mitral valve regurgitation: a case report

  2021cites this paper
• Cutaneous and oral manifestations of pseudoxanthoma elasticum: clinicopathological features of an uncommon disorder

  2020cites this paper
• Pseudoxanthoma elasticum in childhood in patient with β-thalassaemia

  2020cites this paper
• Pseudoxanthoma elasticum in childhood in patient with β-thalassaemia.

  2020cites this paper
• Pseudoxanthoma elasticum and retinitis pigmentosa: dual diagnosis of recessive conditions with ophthalmological consequences

  2020cites this paper
• Non-exudative macular neovascularization in pseudoxanthoma elasticum

  2020cites this paper
• Genetic architecture of common non-Alzheimer’s disease dementias

  2020cites this paper
• ABCC6 Gene

  2020cites this paper
• Pápulas amarillas en empedrado como «piel de gallina»

  2020cites this paper
• Monogenetic Stroke Syndromes in Children and Young Adults.

  2020cites this paper
• Cœur et vaisseaux dans les affections génétiques

  2020cites this paper
• Pseudoxanthoma Elasticum: An Interesting Model to Evaluate Chronic Kidney Disease-Like Vascular Damage without Renal Disease

  2020cites this paper
• Pseudoxanthoma elasticum presenting as akinetic-rigid parkinsonism and dementia.

  2019cites this paper
• Cutaneous Elastic Tissue Anomalies.

  2019cites this paper
• Vascular Complications Developing in Family Members with Pseudoxanthoma Elasticum

  2019cites this paper
• Pattern Dystrophy: An Imprecise Diagnosis in the Age of Precision Medicine

  2019cites this paper
• Pseudoxanthoma elasticum.

  2019cites this paper
• Retinal sensitivity in angioid streaks

  2019cites this paper
• Pseudoxanthoma Elasticum and Cutis Laxa

  2019cites this paper
• Coquille d’oeuf in young patients affected with Pseudoxantoma elasticum

  2019cites this paper
• Reticular pseudodrusen: current understanding

  2019influential citation
• Xenobiotic Transporters in the Kidney: Function and Role in Toxicity.

  2019cites this paper
• A Case Series of Pseudoxanthoma Elasticum-like Disorders

  2019influential citation
• Bidimensional Multiscale Fuzzy Entropy and Its Application to Pseudoxanthoma Elasticum

  2019influential citation
• Dermoscopic phenotype of pseudoxanthoma elasticum skin lesions: a study of 16 patients

  2019cites this paper
• The prevalence of pseudoxanthoma elasticum: Revised estimations based on genotyping in a high vascular risk cohort.

  2019cites this paper
• Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke

  2018cites this paper
• Genetics and Genomics of Stroke

  2018cites this paper
• Segregation analysis revealed hemizygotic causative mutations in a pseudoxanthoma elasticum patient

  2018cites this paper
• Skin Alterations in Pseudoxanthoma Elasticum Patients Highlighted by the Bi-Dimensional Sample Entropy Algorithm

  2018cites this paper
• Peripapillary comet lesions and comet rain in PXE-related retinopathy

  2018cites this paper
• Reticular Pseudodrusen and Thin Choroid Are Associated With Angioid Streaks.

  2018cites this paper
• Investigating Mutations in Member 6 (ABCC6) gene, of Sub-family C (CFTR/MRP) of the ATP-binding Cassette Causing Pseudoxanthoma Elasticum

  2018cites this paper
• Disorders and Mechanisms of Ectopic Calcification

  2018cites this paper
• Dermatoscopy of Common Lesions in Pediatric Dermatology.

  2018cites this paper
• Stries angioïdes

  2018cites this paper
• Unexpected ABCC6 mRNA splicing in a Chinese family with pseudoxanthoma elasticum

  2018cites this paper
• ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance

  2017cites this paper
• [Vascular calcification in pseudoxanthoma elasticum in children].

  2017cites this paper
• ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy

  2017cites this paper