PMC Articles for MedGen (Select 341470) - PMC

Select item 38476351.

Splenectomy complicated by sustained extreme thrombocytosis and extensive portosplenomesenteric vein thrombosis in pyrimidine 5′-nucleotidase deficiency

Hassan A Al-Jafar, Ali Taqi, John Patrick Madda, Thamer A Abdullah

BMJ Case Rep. 2013; 2013: bcr2013201061. Published online 2013 Nov 28. doi: 10.1136/bcr-2013-201061

PMCID:: PMC3847635

Abstract Article PDF–293K

Select item 111391272.

Evidence for essential catalytic determinants for human erythrocyte pyrimidine 5′-nucleotidase

A. Amici, K. Ciccioli, V. Naponelli, N. Raffaelli, G. Magni

Cell Mol Life Sci. 2005 Jul; 62(14): 1613–1620. Published online 2005 Jun 17. doi: 10.1007/s00018-005-5135-y

PMCID:: PMC11139127

Abstract Article PDF–834K

Select item 101018563.

NUDT22 promotes cancer growth through pyrimidine salvage

Melanie Walter, Florian Mayr, Bishoy M. F. Hanna, Victoria Cookson, Oliver Mortusewicz, Thomas Helleday, Patrick Herr

Oncogene. 2023; 42(16): 1282–1293. Published online 2023 Mar 4. doi: 10.1038/s41388-023-02643-4

PMCID:: PMC10101856

Abstract Article PDF–3.5M

Select item 97008974.

A rare mutation (p.F149del) of the NT5C3A gene is associated with pyrimidine 5′-nucleotidase deficiency

Dżamila M. Bogusławska, Michał Skulski, Rafał Bartoszewski, Beata Machnicka, Elżbieta Heger, Kazimierz Kuliczkowski, Aleksander F. Sikorski

Cell Mol Biol Lett. 2022; 27: 104. Published online 2022 Nov 24. doi: 10.1186/s11658-022-00405-w

PMCID:: PMC9700897

Abstract Article PDF–1.5M

Select item 85015625.

Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias

Bruno Fattizzo, Juri Alessandro Giannotta, Nicola Cecchi, Wilma Barcellini

Orphanet J Rare Dis. 2021; 16: 415. Published online 2021 Oct 9. doi: 10.1186/s13023-021-02036-4

PMCID:: PMC8501562

Abstract Article PDF–1.8M

Select item 72508646.

The Perlman syndrome DIS3L2 exoribonuclease safeguards endoplasmic reticulum-targeted mRNA translation and calcium ion homeostasis

Mehdi Pirouz, Chih-Hao Wang, Qi Liu, Aref G. Ebrahimi, Farnaz Shamsi, Yu-Hua Tseng, Richard I. Gregory

Nat Commun. 2020; 11: 2619. Published online 2020 May 26. doi: 10.1038/s41467-020-16418-y

PMCID:: PMC7250864

Abstract Article PDF–2.1M

Select item 66862287.

Contribution of Cytidine Deaminase to Thymidylate Biosynthesis in Trypanosoma brucei: Intracellular Localization and Properties of the Enzyme

Ana Moro-Bulnes, Víctor M. Castillo-Acosta, Maria Valente, Juana Carrero-Lérida, Guiomar Pérez-Moreno, Luis Miguel Ruiz-Pérez, Dolores González-Pacanowska

mSphere. 2019 Jul-Aug; 4(4): e00374-19. Published online 2019 Aug 7. doi: 10.1128/mSphere.00374-19

PMCID:: PMC6686228

Abstract Article PDF–2.9M

Select item 66647658.

Low-density lipoprotein receptor-deficient hepatocytes differentiated from induced pluripotent stem cells allow familial hypercholesterolemia modeling, CRISPR/Cas-mediated genetic correction, and productive hepatitis C virus infection

Jérôme Caron, Véronique Pène, Laia Tolosa, Maxime Villaret, Eléanor Luce, Angélique Fourrier, Jean-Marie Heslan, Samir Saheb, Eric Bruckert, María José Gómez-Lechón, Tuan Huy Nguyen, Arielle R. Rosenberg, Anne Weber, Anne Dubart-Kupperschmitt

Stem Cell Res Ther. 2019; 10: 221. Published online 2019 Jul 29. doi: 10.1186/s13287-019-1342-6