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Journal Abstract Search

357 related items for PubMed ID: 31164056

  • 1. Pseudoxanthoma elasticum with prominent arterial calcifications evoking CD73 deficiency.
    Devriese M, Legrand A, Courtois MC, Jeunemaitre X, Albuisson J.
    Vasc Med; 2019 Oct; 24(5):461-464. PubMed ID: 31164056
    [Abstract] [Full Text] [Related]

  • 2. Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development.
    Li Q, van de Wetering K, Uitto J.
    Am J Pathol; 2019 Feb; 189(2):216-225. PubMed ID: 30414410
    [Abstract] [Full Text] [Related]

  • 3. ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions.
    Shimada BK, Pomozi V, Zoll J, Kuo S, Martin L, Le Saux O.
    Int J Mol Sci; 2021 Apr 27; 22(9):. PubMed ID: 33925341
    [Abstract] [Full Text] [Related]

  • 4. Genetics in arterial calcification: lessons learned from rare diseases.
    Nitschke Y, Rutsch F.
    Trends Cardiovasc Med; 2012 Aug 27; 22(6):145-9. PubMed ID: 23122642
    [Abstract] [Full Text] [Related]

  • 5. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
    Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F.
    Am J Hum Genet; 2012 Jan 13; 90(1):25-39. PubMed ID: 22209248
    [Abstract] [Full Text] [Related]

  • 6. Severe early-onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate.
    Omarjee L, Nitschke Y, Verschuere S, Bourrat E, Vignon MD, Navasiolava N, Leftheriotis G, Kauffenstein G, Rutsch F, Vanakker OM, Martin L.
    Br J Dermatol; 2020 Aug 13; 183(2):367-372. PubMed ID: 31646622
    [Abstract] [Full Text] [Related]

  • 7. Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum.
    Markello TC, Pak LK, St Hilaire C, Dorward H, Ziegler SG, Chen MY, Chaganti K, Nussbaum RL, Boehm M, Gahl WA.
    Mol Genet Metab; 2011 May 13; 103(1):44-50. PubMed ID: 21371928
    [Abstract] [Full Text] [Related]

  • 8. Paediatric pseudoxanthoma elasticum with cardiovascular involvement.
    Li Q, Baker J, Kowalczyk J, Jiang Q, Uitto J, Schachner L.
    Br J Dermatol; 2013 Nov 13; 169(5):1148-51. PubMed ID: 23746223
    [Abstract] [Full Text] [Related]

  • 9. Pseudoxanthoma Elasticum, Kidney Stones and Pyrophosphate: From a Rare Disease to Urolithiasis and Vascular Calcifications.
    Letavernier E, Bouderlique E, Zaworski J, Martin L, Daudon M.
    Int J Mol Sci; 2019 Dec 17; 20(24):. PubMed ID: 31861118
    [Abstract] [Full Text] [Related]

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  • 11. Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.
    Hosen MJ, Van Nieuwerburgh F, Steyaert W, Deforce D, Martin L, Leftheriotis G, De Paepe A, Coucke PJ, Vanakker OM.
    J Invest Dermatol; 2015 Apr 17; 135(4):992-998. PubMed ID: 25264593
    [Abstract] [Full Text] [Related]

  • 12. Generalized Arterial Calcification of Infancy (GACI).
    Baujat G, Besançon A.
    Arch Pediatr; 2024 Sep 17; 31(4S1):4S21-4S26. PubMed ID: 39343469
    [Abstract] [Full Text] [Related]

  • 13. Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene.
    Li Q, Schumacher W, Jablonski D, Siegel D, Uitto J.
    Br J Dermatol; 2012 May 17; 166(5):1107-11. PubMed ID: 22229486
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  • 15. An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.
    Le Boulanger G, Labrèze C, Croué A, Schurgers LJ, Chassaing N, Wittkampf T, Rutsch F, Martin L.
    Am J Med Genet A; 2010 Jan 17; 152A(1):118-23. PubMed ID: 20034067
    [Abstract] [Full Text] [Related]

  • 16. Juxta-articular joint-capsule mineralization in CD73 deficient mice: similarities to patients with NT5E mutations.
    Li Q, Price TP, Sundberg JP, Uitto J.
    Cell Cycle; 2014 Jan 17; 13(16):2609-15. PubMed ID: 25486201
    [Abstract] [Full Text] [Related]

  • 17. ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
    Ralph D, Nitschke Y, Levine MA, Caffet M, Wurst T, Saeidian AH, Youssefian L, Vahidnezhad H, Terry SF, Rutsch F, Uitto J, Li Q.
    PLoS Genet; 2022 Apr 17; 18(4):e1010192. PubMed ID: 35482848
    [Abstract] [Full Text] [Related]

  • 18. Homology Modeling and Virtual Screening of Proteins Related to PXE and PXE-like Diseases: Insights for Overlapping Metabolites.
    Naima J, Abir RA, Hosen MJ.
    Curr Pharm Biotechnol; 2020 Apr 17; 21(14):1470-1478. PubMed ID: 32427083
    [Abstract] [Full Text] [Related]

  • 19. Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder.
    Luo H, Faghankhani M, Cao Y, Uitto J, Li Q.
    J Invest Dermatol; 2021 May 17; 141(5):1148-1156. PubMed ID: 33341249
    [Abstract] [Full Text] [Related]

  • 20. Prevalence and severity of arterial calcifications in pseudoxanthoma elasticum (PXE) compared to hospital controls. Novel insights into the vascular phenotype of PXE.
    Kranenburg G, de Jong PA, Mali WP, Attrach M, Visseren FL, Spiering W.
    Atherosclerosis; 2017 Jan 17; 256():7-14. PubMed ID: 27940376
    [Abstract] [Full Text] [Related]

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