| scholarly article | Q13442814 |
| P356 | DOI | 10.1016/J.AJHG.2011.11.020 |
| P8608 | Fatcat ID | release_ad6n2r7hozceddzqq3rmxi3bge |
| P932 | PMC publication ID | 3257960 |
| P698 | PubMed publication ID | 22209248 |
| P5875 | ResearchGate publication ID | 51972585 |
| P50 | author | Justin H Davies | Q64681485 |
| Frank Rutsch | Q107644491 | ||
| Smail Hadj-rabia | Q42716197 | ||
| P2093 | author name string | Robert Terkeltaub | |
| Wendy E Smith | |||
| Nicolas Chassaing | |||
| Wolfgang Höhne | |||
| Olivier Roche | |||
| Charu Deshpande | |||
| Martine Le Merrer | |||
| Stephen G Kahler | |||
| Beat Steinmann | |||
| Geneviève Baujat | |||
| Ludovic Martin | |||
| Samuel J Garber | |||
| Loreto Martorell | |||
| Mignon McCulloch | |||
| Lourdes Loidi | |||
| Ilse Feenstra | |||
| Elizabeth Wraige | |||
| Yvonne Nitschke | |||
| Marcel du Moulin | |||
| Karen Lambot | |||
| Geneviève Guest | |||
| Tanja Wittkampf | |||
| Jacqueline Stella | |||
| Rashmi Chikarmane | |||
| Tatevik Shahinyan | |||
| Karen Loechner | |||
| Marie-Frederique Tazarourte-Pinturier | |||
| Ulrike Botschen | |||
| P2860 | cites work | PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification | Q24290745 |
| A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum | Q24533380 | ||
| NT5E mutations and arterial calcifications | Q24607121 | ||
| Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms | Q24623387 | ||
| Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum | Q24648254 | ||
| Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy | Q24657630 | ||
| Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations | Q24674089 | ||
| Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter | Q24681737 | ||
| Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum | Q28118435 | ||
| Mutations in ABCC6 cause pseudoxanthoma elasticum | Q28145590 | ||
| Inorganic pyrophosphate generation and disposition in pathophysiology | Q28201357 | ||
| Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease | Q28217823 | ||
| Idiopathic arterial calcification of infancy. | Q52106537 | ||
| Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. | Q52937289 | ||
| Manifestations of pseudoxanthoma elasticum in childhood. | Q53057493 | ||
| Pulmonary artery calcification in recipient twins of twin to twin transfusion syndrome: a report of three cases. | Q53659576 | ||
| Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE. | Q54541746 | ||
| Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. | Q55051449 | ||
| Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting. | Q55069969 | ||
| Idiopathic arterial calcification in infancy | Q67428799 | ||
| Generalized pseudoxanthoma elasticum with deficiency of vitamin K-dependent clotting factors | Q69786971 | ||
| Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients | Q73832283 | ||
| Hepatic vascular calcification: an early second trimester sonographic feature of idiopathic infantile arterial calcinosis | Q77213210 | ||
| Does autosomal dominant pseudoxanthoma elasticum exist? | Q79961608 | ||
| ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE) | Q80811249 | ||
| The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI) | Q81159927 | ||
| An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy | Q82336822 | ||
| Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease | Q84740262 | ||
| Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity | Q28274568 | ||
| Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum | Q30499841 | ||
| Idiopathic infantile arterial calcification in two siblings: failure of treatment with diphosphonate | Q30536902 | ||
| Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum | Q31029286 | ||
| Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). | Q32065240 | ||
| Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel | Q33352008 | ||
| Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets | Q33645895 | ||
| Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene | Q33645954 | ||
| Nucleotide pyrophosphatases/phosphodiesterases on the move | Q33934668 | ||
| Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes | Q33979143 | ||
| Idiopathic arterial calcification of infancy: a clinicopathologic study | Q34049188 | ||
| Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification | Q34217171 | ||
| Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation. | Q34506946 | ||
| Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum | Q35124608 | ||
| Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update. | Q35172849 | ||
| Administration of vitamin K does not counteract the ectopic mineralization of connective tissues in Abcc6 (-/-) mice, a model for pseudoxanthoma elasticum | Q35215438 | ||
| Pseudoxanthoma elasticum: reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6-/-). | Q37237514 | ||
| Pseudoxanthoma elasticum is a metabolic disease | Q38353712 | ||
| Vitamin K supplementation increases vitamin K tissue levels but fails to counteract ectopic calcification in a mouse model for pseudoxanthoma elasticum. | Q38729250 | ||
| The surgical treatment of restrictive cardiomyopathy in pseudoxanthoma elasticum | Q39500586 | ||
| Angioid streaks, clinical course, complications, and current therapeutic management | Q39980265 | ||
| Classification of pseudoxanthoma elasticum: report of a consensus conference | Q40798950 | ||
| Relationship between ankle brachial index and arterial remodeling in pseudoxanthoma elasticum. | Q41138269 | ||
| Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro | Q41213819 | ||
| Reply to the article of C. Markello et al. entitled "Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum". | Q42341741 | ||
| Unique coexpression in osteoblasts of broadly expressed genes accounts for the spatial restriction of ECM mineralization to bone | Q42732135 | ||
| Novel ABCC6 mutations in pseudoxanthoma elasticum | Q44846056 | ||
| Mitral Stenosis in Pseudoxanthoma Elasticum | Q45280197 | ||
| Pseudoxanthoma elasticum and nephrolithiasis | Q45308068 | ||
| Generalized arterial calcification of infancy: treatment with bisphosphonates | Q46116449 | ||
| Does the absence of ABCC6 (multidrug resistance protein 6) in patients with Pseudoxanthoma elasticum prevent the liver from providing sufficient vitamin K to the periphery? | Q46602842 | ||
| Idiopathic arterial calcification in childhood | Q48005049 | ||
| Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome. | Q49107453 | ||
| Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals. | Q51740638 | ||
| Role of serum fetuin-A, a major inhibitor of systemic calcification, in pseudoxanthoma elasticum. | Q51826175 | ||
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | arterial calcification of infancy | Q9366868 |
| infancy stage | Q49257364 | ||
| P304 | page(s) | 25-39 | |
| P577 | publication date | 2011-12-29 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6 | |
| P478 | volume | 90 |
| Q36295439 | A novel animal model for pseudoxanthoma elasticum: the KK/HlJ mouse |
| Q100750568 | A systematic review of monogenic etiologies of nonimmune hydrops fetalis |
| Q30313271 | ABC Transport Proteins in Cardiovascular Disease-A Brief Summary |
| Q33634804 | ABCC6 knockdown in HepG2 cells induces a senescent-like cell phenotype. |
| Q37395209 | ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release |
| Q64375165 | Adenovirus-Mediated ABCC6 Gene Therapy for Heritable Ectopic Mineralization Disorders |
| Q52675944 | Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum. |
| Q37655761 | Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo; pharmacological correction of the mislocalized proteins |
| Q38294167 | Antenatal diagnosis of idiopathic arterial calcification: a systematic review with a report of two cases |
| Q38815366 | Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder |
| Q46946207 | Arterial calcification due to CD73 deficiency (ACDC): imaging manifestations of ectopic mineralization |
| Q50223589 | Association of arterial calcification with chronic limb ischemia in patients with peripheral artery disease. |
| Q52985719 | Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease. |
| Q36628964 | Bidirectional Translation in Cardiovascular Calcification |
| Q57158584 | Bisphosphonate therapy in an infant with generalized arterial calcification with an ABCC6 mutation |
| Q33663948 | Calcification in dermal fibroblasts from a patient with GGCX syndrome accompanied by upregulation of osteogenic molecules |
| Q30376755 | Calcification of joints and arteries: second report with novel NT5E mutations and expansion of the phenotype. |
| Q33554058 | Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum |
| Q87901682 | Clinical utility gene card: for pseudoxanthoma elasticum |
| Q37217072 | Cole Disease Results from Mutations in ENPP1. |
| Q48616823 | Condylar geometry variation is associated with ENPP1 variant in a population of patients with dento-facial deformities. |
| Q42925395 | Coordinated orphan disease research: yes, we can! |
| Q93369365 | Dietary Pyrophosphate Modulates Calcification in a Mouse Model of Pseudoxanthoma Elasticum: Implication for Treatment of Patients |
| Q41858484 | Disseminated arterial calcification and enhanced myogenic response are associated with abcc6 deficiency in a mouse model of pseudoxanthoma elasticum. |
| Q36514754 | Dual Effects of Bisphosphonates on Ectopic Skin and Vascular Soft Tissue Mineralization versus Bone Microarchitecture in a Mouse Model of Generalized Arterial Calcification of Infancy |
| Q27343503 | ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy |
| Q36222057 | Ectopic Mineralization and Conductive Hearing Loss in Enpp1asj Mutant Mice, a New Model for Otitis Media and Tympanosclerosis |
| Q45765840 | Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase. |
| Q26865249 | Ectopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcification |
| Q37022085 | Ectopic mineralization of cartilage and collagen-rich tendons and ligaments in Enpp1asj-2J mice |
| Q28115649 | Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1 |
| Q35228927 | Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum |
| Q41596248 | Fibroblast involvement in soft connective tissue calcification |
| Q42354115 | Finding the culprit: who is turning hearts to stone? |
| Q26798431 | From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders |
| Q48939711 | Functional Rescue of ABCC6 Deficiency by 4-Phenylbutyrate Therapy Reduces Dystrophic Calcification in Abcc6-/- Mice. |
| Q41986289 | Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin |
| Q55471208 | Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report. |
| Q35470305 | Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations |
| Q36779445 | Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia |
| Q33690527 | Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6(tm1Jfk) and Enpp1(asj) mutant mice |
| Q36303881 | Genetic pathways of vascular calcification. |
| Q53042515 | Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy. |
| Q38060079 | Heritable ectopic mineralization disorders: the paradigm of pseudoxanthoma elasticum |
| Q37288358 | Histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues |
| Q38062345 | Hypophosphatemia and growth |
| Q33848594 | Increased activity of TNAP compensates for reduced adenosine production and promotes ectopic calcification in the genetic disease ACDC. |
| Q37683430 | Inflammatory, metabolic, and genetic mechanisms of vascular calcification. |
| Q39353783 | Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts |
| Q89555826 | Inhibition of vascular calcification by inositol phosphates derivatized with ethylene glycol oligomers |
| Q36911899 | Insights from genetic disorders of phosphate homeostasis |
| Q39199332 | Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016. |
| Q26766350 | Large animal models of cardiovascular disease |
| Q90329508 | Magnesium and Anti-phosphate Treatment with Bisphosphonates for Generalised Arterial Calcification of Infancy: A Case Report |
| Q36780668 | Mineral content of the maternal diet influences ectopic mineralization in offspring of Abcc6(-/-) mice |
| Q42272777 | Mineralisation of collagen rich soft tissues and osteocyte lacunae in Enpp1(-/-) mice. |
| Q36986492 | Mineralization/anti-mineralization networks in the skin and vascular connective tissues |
| Q39288329 | Mono-allelic and bi-allelic ENPP1 deficiency promote post-injury neointimal hyperplasia associated with increased C/EBP homologous protein expression |
| Q35106961 | Mouse models for pseudoxanthoma elasticum: genetic and dietary modulation of the ectopic mineralization phenotypes |
| Q37623356 | Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum |
| Q42164144 | New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers |
| Q26765164 | New perspectives on rare connective tissue calcifying diseases |
| Q92837415 | Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome |
| Q41859993 | PSEUDOXANTHOMA ELASTICUM: DIAGNOSTIC FEATURES, CLASSIFICATION, AND TREATMENT OPTIONS. |
| Q37257595 | Paediatric pseudoxanthoma elasticum with cardiovascular involvement |
| Q42563793 | Pathological calcification and the mystery of Lot's wife. |
| Q52584612 | Persistence of the ABCC6 genes and the emergence of the bony skeleton in vertebrates. |
| Q39646548 | Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum |
| Q50922292 | Plasma PPi Deficiency Is the Major, but Not the Exclusive, Cause of Ectopic Mineralization in an Abcc6-/- Mouse Model of PXE. |
| Q34109022 | Polymicrogyria: pathology, fetal origins and mechanisms. |
| Q59200069 | Prenatal ultrasonographic diagnosis of generalized arterial calcification of infancy |
| Q58881442 | Progressive extreme heterotopic calcification |
| Q100416129 | Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI) |
| Q58591880 | Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development |
| Q92151959 | Pseudoxanthoma Elasticum, Kidney Stones and Pyrophosphate: From a Rare Disease to Urolithiasis and Vascular Calcifications |
| Q33655190 | Pseudoxanthoma elasticum |
| Q26781461 | Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment |
| Q34918455 | Pseudoxanthoma elasticum: cardiac findings in patients and Abcc6-deficient mouse model. |
| Q45324816 | Pseudoxanthoma elasticum: progress in research toward treatment: summary of the 2012 PXE international research meeting |
| Q50656936 | Pyrophosphate Supplementation Prevents Chronic and Acute Calcification in ABCC6-Deficient Mice. |
| Q89623399 | Rare Co-occurrence of Beta-Thalassemia and Pseudoxanthoma elasticum: Novel Biomolecular Findings |
| Q98891972 | Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc |
| Q26827073 | Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders |
| Q48379638 | Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy. |
| Q96109756 | Skeletal abnormalities secondary to antenatal etidronate treatment for suspected generalised arterial calcification of infancy |
| Q42678391 | The ABCC6 transporter: what lessons can be learnt from other ATP-binding cassette transporters? |
| Q91740784 | The Role of Vitamin K and Its Related Compounds in Mendelian and Acquired Ectopic Mineralization Disorders |
| Q33572926 | The contribution of arterial calcification to peripheral arterial disease in pseudoxanthoma elasticum |
| Q36189282 | The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene |
| Q37415430 | The level of hepatic ABCC6 expression determines the severity of calcification after cardiac injury |
| Q36460969 | The molecular and physiological roles of ABCC6: more than meets the eye. |
| Q34821047 | The mystery of persistent pulmonary hypertension: an idiopathic infantile arterial calcification |
| Q36602795 | The vascular phenotype in Pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcification |
| Q38088648 | Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations |
| Q54858183 | Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification. |
| Q35553833 | Vascular calcification: Mechanisms of vascular smooth muscle cell calcification |
| Q36750182 | Warfarin accelerates ectopic mineralization in Abcc6(-/-) mice: clinical relevance to pseudoxanthoma elasticum |
| Q92040389 | Zebrafish and medaka as models for biomedical research of bone diseases |
| Q33814239 | Zebrafish enpp1 mutants exhibit pathological mineralization, mimicking features of generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE) |
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