ライフサイエンスコーパス: ITPA

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1 ITPA genotype (rs7270101, rs1127354) was used to define

2 ITPA-P32T is also fully functional in vivo in model orga

3 , we describe the design and synthesis of an ITPA-specific chimeric dinucleotide (DIAL) that replaces

4 Using a candidate gene approach, ITPA variants rs1127354 and rs7270101 were tested using

5 This is the first report associating ITPA mutations with a human disorder.

6 in-like association between polymorphisms at ITPA and treatment efficacy in chronic hepatitis C media

7 assay and its complementation of a bacterial ITPA defect.

8 The association between ITPA variants and SVR remained significant when patients

9 ency variable was defined that combined both ITPA variants according to documented effect on ITPase a

10 ency variable was defined that combined both ITPA variants according to their effect on ITPase activi

11 evaluated the association between the casual ITPA variants and on-treatment anemia in a well-characte

12 e III trial (NORDynamIC), were genotyped for ITPA (rs1127354 and rs7270101).

13 triphosphate pyrophosphatase (ITPase) gene (ITPA) on treatment outcome in patients with hepatitis C

14 Defects in ITPA orthologs in model organisms cause severe sensitivi

15 sive predicted loss of function mutations in ITPA, encoding inosine triphosphate pyrophosphatase (ITP

16 hronic hepatitis C, 2 functional variants in ITPA that cause inosine triphosphatase (ITPase) deficien

17 ge by conversion of (d)ITP to monophosphate, ITPA, has been proposed as a possible therapeutic and di

18 lution, as is wild-type ITPA, and has normal ITPA activity in vitro, but the melting point of ITPA-P3

19 Until now ITPA variants have only been associated with adverse rea

20 , and can be used to measure the activity of ITPA in bacterial, yeast and human cell lysates.

21 tically determined low or normal activity of ITPA, leading respectively to high or normal ITP levels.

22 The amount of ITPA protein detected by Western blot is severely dimini

23 We investigated the impact of ITPA variants on Hb levels over the course of therapy an

24 activity in vitro, but the melting point of ITPA-P32T is 5 degrees C lower than that of wild-type.

25 of ATP reduction by the hemolysis protective ITPA genotype was canceled by the ADSS inhibitor 6-merca

26 PA genotype than in the hemolysis protective ITPA genotype.

27 ted by inosine triphosphate pyrophosphatase (ITPA).

28 The ITPA gene is a highly conserved, moderately expressed ge

29 The ITPA polymorphisms rs1127354 and rs7270101 were genotype

30 The ITPA variants were strongly and independently associated

31 The ITPA variants, rs1127354 (exon 2, P32T) and rs7270101 (i

32 There was no association between the ITPA variants and SVR.

33 his study confirms that polymorphisms in the ITPA gene are associated with protection from RBV-induce

34 We have found that the ITPA-P32T mutant is a dimer in solution, as is wild-type

35 Genetic variation of inosine triphosphatase (ITPA) causing an accumulation of inosine triphosphate (I

36 onal variants in the inosine triphosphatase (ITPA) gene causing inosine triphosphatase (ITPase) defic

37 Inosine triphosphatase (ITPA) variants causing ITPase deficiency have been shown

38 ymorphism (SNP) in the inosine triphosphate (ITPA) gene and hemolytic anemia in patients infected wit

39 Two ITPA variants were strongly associated with protection a

40 P reduction was more severe in the wild-type ITPA genotype than in the hemolysis protective ITPA geno

41 tant is a dimer in solution, as is wild-type ITPA, and has normal ITPA activity in vitro, but the mel

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