PubMed (GeneRIF) for id: 353

Year	Number of Results
2003	1
2004	2
2006	1
2007	1
2008	1
2009	1
2011	1
2014	1
2015	1
2018	1
2019	1
2021	1
2022	1
2023	1
2024	0

1

Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma.

Locher M, Jukic E, Vogi V, Keller MA, Kröll T, Schwendinger S, Oberhuber K, Verdorfer I, Mühlegger BE, Witsch-Baumgartner M, Nachbaur D, Willenbacher W, Gunsilius E, Wolf D, Zschocke J, Steiner N. Locher M, et al. Eur J Haematol. 2023 Mar;110(3):296-304. doi: 10.1111/ejh.13905. Epub 2022 Dec 4. Eur J Haematol. 2023. PMID: 36433728 Free PMC article.

2

Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.

Runolfsdottir HL, Sayer JA, Indridason OS, Edvardsson VO, Jensson BO, Arnadottir GA, Gudjonsson SA, Fridriksdottir R, Katrinardottir H, Gudbjartsson D, Thorsteinsdottir U, Sulem P, Stefansson K, Palsson R. Runolfsdottir HL, et al. Eur J Hum Genet. 2021 Jul;29(7):1061-1070. doi: 10.1038/s41431-020-00805-6. Epub 2021 Mar 11. Eur J Hum Genet. 2021. PMID: 33707627 Free PMC article.

3

Structural basis for substrate selectivity and nucleophilic substitution mechanisms in human adenine phosphoribosyltransferase catalyzed reaction.

Ozeir M, Huyet J, Burgevin MC, Pinson B, Chesney F, Remy JM, Siddiqi AR, Lupoli R, Pinon G, Saint-Marc C, Gibert JF, Morales R, Ceballos-Picot I, Barouki R, Daignan-Fornier B, Olivier-Bandini A, Augé F, Nioche P. Ozeir M, et al. J Biol Chem. 2019 Aug 9;294(32):11980-11991. doi: 10.1074/jbc.RA119.009087. Epub 2019 Jun 3. J Biol Chem. 2019. PMID: 31160323 Free PMC article.

4

A pan-cancer study of the transcriptional regulation of uricogenesis in human tumours: pathological and pharmacological correlates.

Saidak Z, Louandre C, Dahmani S, Sauzay C, Guedda S, Chauffert B, Chatelain D, Ceballos-Picot I, Galmiche A. Saidak Z, et al. Biosci Rep. 2018 Sep 19;38(5):BSR20171716. doi: 10.1042/BSR20171716. Print 2018 Oct 31. Biosci Rep. 2018. PMID: 30104401 Free PMC article.

5

A thymine-adenine dinucleotide repeat polymorphism near IL28B is associated with spontaneous clearance of hepatitis C virus.

Hiramine S, Sugiyama M, Furusyo N, Uto H, Ido A, Tsubouchi H, Watanabe H, Ueno Y, Korenaga M, Murata K, Masaki N, Hayashi J, Thomas DL, Mizokami M. Hiramine S, et al. J Gastroenterol. 2015 Oct;50(10):1069-77. doi: 10.1007/s00535-015-1056-1. Epub 2015 Mar 5. J Gastroenterol. 2015. PMID: 25735432 Free PMC article.

6

Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.

Valaperta R, Rizzo V, Lombardi F, Verdelli C, Piccoli M, Ghiroldi A, Creo P, Colombo A, Valisi M, Margiotta E, Panella R, Costa E. Valaperta R, et al. BMC Nephrol. 2014 Jul 1;15:102. doi: 10.1186/1471-2369-15-102. BMC Nephrol. 2014. PMID: 24986359 Free PMC article.

7

A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.

Nozue H, Kamoda T, Saitoh H, Ichikawa K, Taniguchi A. Nozue H, et al. Acta Paediatr. 2011 Dec;100(12):e285-8. doi: 10.1111/j.1651-2227.2011.02371.x. Epub 2011 Jun 17. Acta Paediatr. 2011. PMID: 21635362

8

The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP.

Treharne KJ, Best OG, Mehta A. Treharne KJ, et al. Mol Cell Biochem. 2009 Sep;329(1-2):107-14. doi: 10.1007/s11010-009-0118-1. Epub 2009 Apr 28. Mol Cell Biochem. 2009. PMID: 19399589 Free PMC article.

9

Structural complexes of human adenine phosphoribosyltransferase reveal novel features of the APRT catalytic mechanism.

Silva CH, Silva M, Iulek J, Thiemann OH. Silva CH, et al. J Biomol Struct Dyn. 2008 Jun;25(6):589-97. doi: 10.1080/07391102.2008.10507205. J Biomol Struct Dyn. 2008. PMID: 18399692

10

Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion-8 bp insertion of the APRT gene suffering from severe renal failure.

Di Pietro V, Perruzza I, Amorini AM, Balducci A, Ceccarelli L, Lazzarino G, Barsotti P, Giardina B, Tavazzi B. Di Pietro V, et al. Clin Biochem. 2007 Jan;40(1-2):73-80. doi: 10.1016/j.clinbiochem.2006.09.011. Epub 2006 Oct 19. Clin Biochem. 2007. PMID: 17126311

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