ライフサイエンスコーパス: SLC6A3

1 the dopamine active transporter (DAT) gene (SLC6A3).

2 (5' near promoter) or rs464049 (intron 4) at SLC6A3.

3 Neither model revealed effects of SLC6A3.

4 iatal DAT availability (V(3)'') than did the SLC6A3 *10R homozygotes, controlling for age (F(1,93) =

5 d as SLC6A3 *9R carriers and contrasted with SLC6A3 *10R homozygotes.

6 ssessed dopamine transporter genotype at the SLC6A3 3' variable number of tandem repeats (VNTR) polym

7 ndings suggest that genetic variation at the SLC6A3 3' VNTR polymorphism may modify dopamine transpor

8 Genotyping of the two DAT (SLC6A3) 3'-UTR and intron8 VNTRs used standard protocols

9 lymorphism (VNTR) and for 6/6 homozygotes of SLC6A3 30 bp VNTR.

10 ic studies, no association was found for the SLC6A3 40 bp and response to MPH with only two studies s

11 e carriers allele 9R of dopamine transporter SLC6A3 40 bp variable tandem repeat polymorphism (VNTR)

12 ADHD status (t = 2.99; p<.004) and 3'-UTR of SLC6A3 9 repeat carrier status (t = 2.74; p<.008) were i

13 cts high in food reinforcement who lacked an SLC6A3*9 allele consumed significantly more calories (>1

14 food reinforcement who carried at least one SLC6A3*9 allele.

15 gotes and 9-10 heterozygotes were grouped as SLC6A3 *9R carriers and contrasted with SLC6A3 *10R homo

16 The SLC6A3 *9R carriers had significantly higher striatal DA

17 activity of inner retinal DAT (also known as SLC6A3; a dopamine reuptake transporter) and thus suppre

18 st promising associations were detected with SLC6A3 (alias DAT), DRD3, COMT and SLC18A2 (alias VMAT2)

19 the effect is moderated by the dopamine loci SLC6A3 and DRD(2).

20 Effects of dopamine transporter (SLC6A3) and dopamine receptor (DRD2) genetic variants on

21 on (avplrv1b, tph1b, htr1a, sst1, sstr1, th, slc6a3, ar) were higher in control dominant versus subor

22 in 99-162 healthy human volunteers (ADORA2A, SLC6A3, BDNF, SLC6A4, CSNK1E, SLC6A2, DRD2, FAAH, COMT,

23 coding the human dopamine transporter (hDAT, SLC6A3) cause a syndrome of infantile/juvenile dystonia

24 d in the 3' untranslated region of the gene (SLC6A3) coding for the dopamine transporter (DAT).

25 who share a rare human DA transporter (DAT; SLC6A3) coding variant, Ala559Val.

26 lentiviral gene transfer of wild-type human SLC6A3 complementary DNA restored DAT activity and preve

27 oxylase (TPH), dopamine transporter protein (SLC6A3), D3 dopamine receptor (DRD3), apolipoprotein E (

28 tions in solute carrier family 6A, member 3 (SLC6A3/DAT1), the human gene encoding DAT, have been imp

29 eplicated across a number of genes including SLC6A3, DRD5, DRD4, SLC6A4, LPHN3, SNAP-25, HTR1B, NOS1

30 In mice with a dopamine transporter (Slc6a3)-driven conditional heterozygous (cHET) reduction

31 Using Slc6a3(DTR/+) diphtheria-toxin-sensitive mice, we demons

32 andem-repeat polymorphism of the gene (DAT1, SLC6A3) encoding dopamine transporter (DAT).

33 d by biallelic loss-of-function mutations in SLC6A3, encoding the dopamine transporter (DAT).

34 An ASD-associated de novo mutation in the SLC6A3 gene resulting in a threonine to methionine subst

35 e avoided with stereotactic delivery of AAV2.SLC6A3 gene therapy targeted to the midbrain of adult kn

36 regulation of the DAT1 (HUGO approved symbol SLC6A3) gene that may harbor functional variants predisp

37 dem repeats (VNTR) polymorphisms of the DAT (SLC6A3) gene.

38 reinforcement with the dopamine transporter (SLC6A3) genotype and the dopamine D(2) receptor (DRD(2))

39 The human dopamine transporter gene SLC6A3 has been consistently implicated in several neuro

40 t that an ADHD risk polymorphism (3'-UTR) of SLC6A3 has functional consequences on central nervous sy

41 presynaptic dopamine (DA) transporter (DAT, SLC6A3) in DA clearance and psychostimulant responses, e

42 (NET, SLC6A2) and dopamine transporter (DAT, SLC6A3) inhibition (IC(50) < 100 nM) in combination with

43 The dopamine transporter gene (SLC6A3) is a candidate gene for Parkinson's disease (PD)

44 s homozygous for the 10-repeat allele at the SLC6A3 locus demonstrated significantly lower dopamine t

45 eta-hydroxylase and the dopamine transporter SLC6A3 may play a role in migraine pathophysiology, and

46 ms in the dopamine transporter gene (DAT1 or SLC6A3) modulate responsiveness to salient stimuli, such

47 Slc6a3 mRNA expression in the PMv was higher in prepuber

48 ubertal Lep(ob) females showed decreased PMv Slc6a3 mRNA expression that recovered to control levels

49 In prepubertal females, Slc6a3 mRNA expression was higher in overnourished femal

50 ochemical and neuroradiological studies, and SLC6A3 mutation analysis.

51 SLC6A3 mutational analysis was undertaken in all patient

52 amine transporter deficiency syndrome due to SLC6A3 mutations is the first inherited dopamine 'transp

53 Homozygous or compound heterozygous SLC6A3 mutations were detected in all cases.

54 confidence interval: 1.16-2.37) and VNTR 10 SLC6A3 (odds ratio: 0.74; confidence interval: 0.60-0.90

55 zygous or compound heterozygous mutations in SLC6A3, of which the majority are previously unreported

56 RIN2A, DRD1, DRD2, HTR2A, CACNA1C, TH, BDNF, SLC6A3, P2RX7, DRD3, and DRD4) and also highlighted seve

57 ressing the dopamine transporter (DAT) gene, Slc6a3 (PMv(DAT)), form a novel subpopulation of LepRb n

58 revious investigations of the effects of the SLC6A3 polymorphism on DAT availability in smaller sampl

59 We assessed genotype at the SLC6A3 promoter VNTR polymorphism in 96 healthy European

60 , the 9R allele of the 3'UTR polymorphism of SLC6A3 regulates dopamine activity in the striatal brain

61 this risk synthesis, we have concluded that SLC6A3 represents an increasingly recognized risk with a

62 Funnel plot asymmetry among SLC6A3 studies was identified and attributed largely to

63 hizophrenia and bipolar affective disorder), SLC6A3 (susceptibility to cocaine-induced paranoia and a

64 h adrenaline and noradrenaline biosynthesis (SLC6A3, TH and SLC18A2), which is seemingly involved in

65 er tandem repeat (VNTR) polymorphism in DAT1/SLC6A3 (the gene encoding the DA transporter (DAT)) were

66 y, APA insertions regulated RNA abundance of Slc6a3, the dopamine transporter, suggesting a novel gen

67 l intracerebroventricular injection of human SLC6A3 using an adeno-associated virus (AAV) vector prov

68 ecently, we identified a rare, nonsynonymous Slc6a3 variant that produces the DAT substitution Ala559

69 Both SLC6A3 variants implicated in the US interactions were o

70 een ADHD and polymorphisms in DRD4, DRD5 and SLC6A3 which encode dopamine D4 and D5 receptors and the

71 isms of the dopamine transporter gene (DAT1; SLC6A3), which are argued to influence the level of avai

72 phism in the dopamine transporter gene (DAT1/SLC6A3), which has been associated with increased reward

73 Thus, allelic variants in SLC6A3, which affect gene expression, are associated wit

74 y, we identified 22 SNPs in the 5' region of SLC6A3, which segregate as eight haplotypes that differ

75 the gene encoding the dopamine transporter (SLC6A3) with the aim to improve clinical and molecular c