PubMed (OMIM) for id: 3704

Year	Number of Results
1969	1
1974	1
1975	2
1976	2
1979	2
1980	1
1987	1
2001	1
2002	2
2009	2
2010	2
2015	1
2024	0

1

Recessive ITPA mutations cause an early infantile encephalopathy.

Kevelam SH, Bierau J, Salvarinova R, Agrawal S, Honzik T, Visser D, Weiss MM, Salomons GS, Abbink TE, Waisfisz Q, van der Knaap MS. Kevelam SH, et al. Ann Neurol. 2015 Oct;78(4):649-58. doi: 10.1002/ana.24496. Epub 2015 Aug 21. Ann Neurol. 2015. PMID: 26224535

2

Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia and decrease the need for ribavirin dose reduction.

Thompson AJ, Fellay J, Patel K, Tillmann HL, Naggie S, Ge D, Urban TJ, Shianna KV, Muir AJ, Fried MW, Afdhal NH, Goldstein DB, McHutchison JG. Thompson AJ, et al. Gastroenterology. 2010 Oct;139(4):1181-9. doi: 10.1053/j.gastro.2010.06.016. Epub 2010 Jun 12. Gastroenterology. 2010. PMID: 20547162 Free PMC article.

3

ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C.

Fellay J, Thompson AJ, Ge D, Gumbs CE, Urban TJ, Shianna KV, Little LD, Qiu P, Bertelsen AH, Watson M, Warner A, Muir AJ, Brass C, Albrecht J, Sulkowski M, McHutchison JG, Goldstein DB. Fellay J, et al. Nature. 2010 Mar 18;464(7287):405-8. doi: 10.1038/nature08825. Epub 2010 Feb 21. Nature. 2010. PMID: 20173735

4

Functional study of the P32T ITPA variant associated with drug sensitivity in humans.

Stepchenkova EI, Tarakhovskaya ER, Spitler K, Frahm C, Menezes MR, Simone PD, Kolar C, Marky LA, Borgstahl GE, Pavlov YI. Stepchenkova EI, et al. J Mol Biol. 2009 Sep 25;392(3):602-13. doi: 10.1016/j.jmb.2009.07.051. Epub 2009 Jul 23. J Mol Biol. 2009. PMID: 19631656 Free PMC article.

5

ITPase-deficient mice show growth retardation and die before weaning.

Behmanesh M, Sakumi K, Abolhassani N, Toyokuni S, Oka S, Ohnishi YN, Tsuchimoto D, Nakabeppu Y. Behmanesh M, et al. Cell Death Differ. 2009 Oct;16(10):1315-22. doi: 10.1038/cdd.2009.53. Epub 2009 Jun 5. Cell Death Differ. 2009. PMID: 19498443

6

DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency.

Cao H, Hegele RA. Cao H, et al. J Hum Genet. 2002;47(11):620-2. doi: 10.1007/s100380200095. J Hum Genet. 2002. PMID: 12436200

7

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency.

Sumi S, Marinaki AM, Arenas M, Fairbanks L, Shobowale-Bakre M, Rees DC, Thein SL, Ansari A, Sanderson J, De Abreu RA, Simmonds HA, Duley JA. Sumi S, et al. Hum Genet. 2002 Oct;111(4-5):360-7. doi: 10.1007/s00439-002-0798-z. Epub 2002 Aug 15. Hum Genet. 2002. PMID: 12384777

8

Cloning, expression, and characterization of a human inosine triphosphate pyrophosphatase encoded by the itpa gene.

Lin S, McLennan AG, Ying K, Wang Z, Gu S, Jin H, Wu C, Liu W, Yuan Y, Tang R, Xie Y, Mao Y. Lin S, et al. J Biol Chem. 2001 Jun 1;276(22):18695-701. doi: 10.1074/jbc.M011084200. Epub 2001 Mar 13. J Biol Chem. 2001. PMID: 11278832 Free article.

9

Regional mapping of ADA and ITP on human chromosome 20: cytogenetic and somatic cell studies in an X/20 translocation.

Mohandas T, Sparkes RS, Passage MB, Sparkes MC, Miles JH, Kaback MM. Mohandas T, et al. Cytogenet Cell Genet. 1980;26(1):28-35. doi: 10.1159/000131418. Cytogenet Cell Genet. 1980. PMID: 7371431

10

The incidence of rare alleles determining electrophoretic variants: data on 43 enzyme loci in man.

Harris H, Hopkinson DA, Robson EB. Harris H, et al. Ann Hum Genet. 1974 Jan;37(3):237-53. doi: 10.1111/j.1469-1809.1974.tb01832.x. Ann Hum Genet. 1974. PMID: 4812947 No abstract available.

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