Below are the most recent publications written about "Pseudoxanthoma Elasticum" by people in Profiles.
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Sehgal A, Milman T, Li Q, Pulido JS. Histological Findings in the Eyes of Abcc6 Knockout Rat Model of Pseudoxanthoma Elasticum. Transl Vis Sci Technol. 2024 Apr 02; 13(4):29.
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Jacobs IJ, Li Q. Novel Treatments for PXE: Targeting the Systemic and Local Drivers of Ectopic Calcification. Int J Mol Sci. 2023 Oct 10; 24(20).
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Szeri F, Miko A, Navasiolava N, Kaposi A, Verschuere S, Molnar B, Li Q, Terry SF, Boraldi F, Uitto J, van de Wetering K, Martin L, Quaglino D, Vanakker OM, Tory K, Aranyi T. The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals. Hum Mutat. 2022 12; 43(12):1872-1881.
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Ralph D, Nitschke Y, Levine MA, Caffet M, Wurst T, Saeidian AH, Youssefian L, Vahidnezhad H, Terry SF, Rutsch F, Uitto J, Li Q. ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification. PLoS Genet. 2022 04; 18(4):e1010192.
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Ziegler SG, Ferreira CR, MacFarlane EG, Riddle RC, Tomlinson RE, Chew EY, Martin L, Ma CT, Sergienko E, Pinkerton AB, Millán JL, Gahl WA, Dietz HC. Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase. Sci Transl Med. 2017 06 07; 9(393).
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Li Q, Kingman J, van de Wetering K, Tannouri S, Sundberg JP, Uitto J. Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum. J Invest Dermatol. 2017 May; 137(5):1025-1032.
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Kupetsky-Rincon EA, Li Q, Uitto J. Magnesium reduces carotid intima-media thickness in a mouse model of pseudoxanthoma elasticum: a novel treatment biomarker. Clin Transl Sci. 2012 Jun; 5(3):259-64.
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Kavukcuoglu NB, Li Q, Pleshko N, Uitto J. Connective tissue mineralization in Abcc6-/- mice, a model for pseudoxanthoma elasticum. Matrix Biol. 2012 May; 31(4):246-52.
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Fülöp K, Jiang Q, Wetering KV, Pomozi V, Szabó PT, Arányi T, Sarkadi B, Borst P, Uitto J, Váradi A. ABCC6 does not transport vitamin K3-glutathione conjugate from the liver: relevance to pathomechanisms of pseudoxanthoma elasticum. Biochem Biophys Res Commun. 2011 Nov 25; 415(3):468-71.
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Szabó Z, Váradi A, Li Q, Uitto J. ABCC6 does not transport adenosine - relevance to pathomechanism of pseudoxanthoma elasticum. Mol Genet Metab. 2011 Nov; 104(3):421; author reply 422.