Below are the most recent publications written about "Phosphoric Diester Hydrolases" by people in Profiles.
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Jacobs IJ, Obiri-Yeboah D, Stabach PR, Braddock DT, Li Q. Novel treatment for PXE: Recombinant ENPP1 enzyme therapy. Mol Ther. 2024 Nov 06; 32(11):3815-3820.
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Ralph D, Levine MA, Richard G, Morrow MM, Flynn EK, Uitto J, Li Q. Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma. Hum Mutat. 2022 09; 43(9):1183-1200.
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Jacobs IJ, Cheng Z, Ralph D, O'Brien K, Flaman L, Howe J, Thompson D, Uitto J, Li Q, Sabbagh Y. INZ-701, a recombinant ENPP1 enzyme, prevents ectopic calcification in an Abcc6-/- mouse model of pseudoxanthoma elasticum. Exp Dermatol. 2022 07; 31(7):1095-1101.
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Harvey N, Youssefian L, Saeidian AH, Vahidnezhad H, Uitto J. Pathomechanisms of epidermolysis bullosa: Beyond structural proteins. Matrix Biol. 2022 06; 110:91-105.
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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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Koz?k E, F?l?p K, Tok?si N, Rao N, Li Q, Terry SF, Uitto J, Zhang X, Becker C, V?radi A, Pomozi V. Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum. Exp Dermatol. 2022 04; 31(4):548-555.
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Rashid I, Hammel M, Sverzhinsky A, Tsai MS, Pascal JM, Tainer JA, Tomkinson AE. Direct interaction of DNA repair protein tyrosyl DNA phosphodiesterase 1 and the DNA ligase III catalytic domain is regulated by phosphorylation of its flexible N-terminus. J Biol Chem. 2021 Aug; 297(2):100921.
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Vahidnezhad H, Youssefian L, Saeidian AH, Boyden LM, Touati A, Harvey N, Naji M, Zabihi M, Barzegar M, Sotoudeh S, Liu L, Guy A, Kariminejad A, Zeinali S, Choate KA, McGrath JA, Uitto J. Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation. Matrix Biol. 2021 05; 99:43-57.
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Chandramouly G, Liao S, Rusanov T, Borisonnik N, Calbert ML, Kent T, Sullivan-Reed K, Vekariya U, Kashkina E, Skorski T, Yan H, Pomerantz RT. Pol? promotes the repair of 5'-DNA-protein crosslinks by microhomology-mediated end-joining. Cell Rep. 2021 03 09; 34(10):108820.
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Luo H, Faghankhani M, Cao Y, Uitto J, Li Q. Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder. J Invest Dermatol. 2021 05; 141(5):1148-1156.