PubMed for id: 271

Year	Number of Results
1981	1
1992	2
1993	1
1995	1
1996	1
1998	1
2000	1
2002	1
2003	1
2004	1
2005	1
2006	3
2009	2
2010	2
2011	3
2012	2
2013	2
2014	4
2015	5
2016	1
2017	3
2018	5
2019	7
2020	7
2021	6
2022	4
2023	7
2024	1

1

Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia.

Gilboa T, Elefant N, Meiner V, Hacohen N. Gilboa T, et al. Neurogenetics. 2023 Jan;24(1):61-66. doi: 10.1007/s10048-022-00706-4. Epub 2022 Nov 29. Neurogenetics. 2023. PMID: 36445597

2

Functional genomics identifies AMPD2 as a new prognostic marker for undifferentiated pleomorphic sarcoma.

Orth MF, Gerke JS, Knösel T, Altendorf-Hofmann A, Musa J, Alba-Rubio R, Stein S, Hölting TLB, Cidre-Aranaz F, Romero-Pérez L, Dallmayer M, Baldauf MC, Marchetto A, Sannino G, Knott MML, Wehweck F, Ohmura S, Li J, Hakozaki M, Kirchner T, Dandekar T, Butt E, Grünewald TGP. Orth MF, et al. Int J Cancer. 2019 Feb 15;144(4):859-867. doi: 10.1002/ijc.31903. Epub 2018 Dec 4. Int J Cancer. 2019. PMID: 30267407 Free article.

3

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Kortüm F, Jamra RA, Alawi M, Berry SA, Borck G, Helbig KL, Tang S, Huhle D, Korenke GC, Hebbar M, Shukla A, Girisha KM, Steinlin M, Waldmeier-Wilhelm S, Montomoli M, Guerrini R, Lemke JR, Kutsche K. Kortüm F, et al. Eur J Hum Genet. 2018 May;26(5):695-708. doi: 10.1038/s41431-018-0098-2. Epub 2018 Feb 20. Eur J Hum Genet. 2018. PMID: 29463858 Free PMC article.

4

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.

Marsh AP, Yap P, Tan T, Pope K, White SM, Chong B, Mcgillivray G, Boys A, Stephenson SE, Leventer RJ, Stark Z, Lockhart PJ. Marsh AP, et al. Am J Med Genet A. 2017 Mar;173(3):820-823. doi: 10.1002/ajmg.a.38076. Epub 2017 Feb 7. Am J Med Genet A. 2017. PMID: 28168832 No abstract available.

5

Effects of tofacitinib on nucleic acid metabolism in human articular chondrocytes.

Koizumi H, Arito M, Endo W, Kurokawa MS, Okamoto K, Omoteyama K, Suematsu N, Beppu M, Kato T. Koizumi H, et al. Mod Rheumatol. 2015 Jul;25(4):522-7. doi: 10.3109/14397595.2014.995874. Epub 2015 Jan 13. Mod Rheumatol. 2015. PMID: 25496463

6

N-terminal extensions of the human AMPD2 polypeptide influence ATP regulation of isoform L.

Haas AL, Sabina RL. Haas AL, et al. Biochem Biophys Res Commun. 2003 May 30;305(2):421-7. doi: 10.1016/s0006-291x(03)00787-3. Biochem Biophys Res Commun. 2003. PMID: 12745092

7

Cloning, sequence and characterization of the human AMPD2 gene: evidence for transcriptional regulation by two closely spaced promoters.

Mahnke-Zizelman DK, van den Bergh F, Bausch-Jurken MT, Eddy R, Sait S, Shows TB, Sabina RL. Mahnke-Zizelman DK, et al. Biochim Biophys Acta. 1996 Aug 14;1308(2):122-32. doi: 10.1016/0167-4781(96)00089-9. Biochim Biophys Acta. 1996. PMID: 8764830

8

Characterization of human AMP deaminase 2 (AMPD2) gene expression reveals alternative transcripts encoding variable N-terminal extensions of isoform L.

Van den Bergh F, Sabina RL. Van den Bergh F, et al. Biochem J. 1995 Dec 1;312 ( Pt 2)(Pt 2):401-10. doi: 10.1042/bj3120401. Biochem J. 1995. PMID: 8526848 Free PMC article.

9

Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.

Abreu NJ, Koboldt DC, Gastier-Foster JM, Dave-Wala A, Flanigan KM, Waldrop MA. Abreu NJ, et al. Am J Med Genet A. 2020 Mar;182(3):557-560. doi: 10.1002/ajmg.a.61452. Epub 2019 Dec 12. Am J Med Genet A. 2020. PMID: 31833174

10

NovelmiRNA-25 inhibits AMPD2 in peripheral blood mononuclear cells of patients with systemic lupus erythematosus and represents a promising novel biomarker.

Guo G, Wang H, Shi X, Ye L, Wu K, Lin K, Ye S, Li B, Zhang H, Lin Q, Ye S, Xue X, Chen C. Guo G, et al. J Transl Med. 2018 Dec 22;16(1):370. doi: 10.1186/s12967-018-1739-5. J Transl Med. 2018. PMID: 30577810 Free PMC article.

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