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Integrator complex subunit 8

INTS8 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] (from NCBI)
Top mentioned proteins: DAT1, fibrillin-1, Lipoprotein Lipase, AIP, Inactive
Papers on Int8
Further evidence for the association between a polymorphism in the promoter region of SLC6A3/DAT1 and ADHD: findings from a sample of adults.
Bau et al., Porto Alegre, Brazil. In Eur Arch Psychiatry Clin Neurosci, 2014
Here, we analyzed the -839 C/T (rs2652511) promoter variant and the 3'-UTR and intron 8 (Int8) VNTR polymorphisms in 522 adults with ADHD and 628 blood donor controls.
Association study between the DAT1, DBH and DRD2 genes and cocaine dependence in a Spanish sample.
Cormand et al., Barcelona, Spain. In Psychiatr Genet, 2010
We genotyped the Int8 and 3'UTR variable number of tandem repeats of the dopamine transporter gene (DAT1/SLC6A3), the TaqIA (rs1800497) and TaqIB (rs1079597) SNP polymorphisms within the dopamine receptor D2 gene and the 19-bp insertion/deletion and c.444G>A (rs1108580) polymorphisms of the dopamine β-hydroxylase gene (DBH) in a Spanish sample of 169 patients with cocaine addiction and 169 sex-matched controls.
Influence of genotype on dopamine transporter availability in human striatum and sleep architecture.
Tufik et al., São Paulo, Brazil. In Psychiatry Res, 2010
No correlation between Int8 VNTR and either the inter-individual variability of the sleep architecture, or the DAT availability, as measured by single photon emission computed tomography (SPECT) and [(⁹⁹m)Tc]TRODAT-1 was observed.
Response to methylphenidate is not influenced by DAT1 polymorphisms in a sample of Brazilian adult patients with ADHD.
Bau et al., Porto Alegre, Brazil. In J Neural Transm, 2010
In the present study, we investigate three potentially relevant polymorphisms in DAT1 gene (-839 C > T; Int8 VNTR and 3'-VNTR), and their possible role in therapeutic response to MPH treatment in a sample of 171 Brazilian adults with ADHD.
Relationship between VNTR polymorphisms of the human dopamine transporter gene and expression in post-mortem midbrain tissue.
D'Souza et al., London, United Kingdom. In Am J Med Genet B Neuropsychiatr Genet, 2008
The expression levels of the DAT1 gene from post-mortem midbrain tissue was measured in relation to the polymorphism present at the 3'UTR VNTR, together with a further VNTR marker located within intron 8 of the gene (Int8 VNTR).
Association study of a functional variant in intron 8 of the dopamine transporter gene and migraine susceptibility.
Griffiths et al., Wellington, New Zealand. In Eur J Neurol, 2007
This study tested a functionally linked variable number tandem repeat (VNTR) in intron 8 of the dopamine transporter gene (DAT(Int8)) in 550 migraine cases (401 with aura, 149 without aura) and 550 non-migraine controls.
A dopamine transporter gene functional variant associated with cocaine abuse in a Brazilian sample.
Breen et al., London, United Kingdom. In Proc Natl Acad Sci U S A, 2006
Repeat polymorphisms, including a 30-bp variable-number tandem repeat (VNTR) in intron 8 (Int8 VNTR) with two common alleles, were genotyped in cocaine-dependent abusers (n = 699) and in controls with no past history of drug abuse (n = 866) from São Paulo, Brazil.
A family-based study of hyperinsulinemia and hypertriglyceridemia in heterozygous lipoprotein lipase deficiency.
Yamamoto et al., Suita, Japan. In Clin Chim Acta, 2002
CASE REPORT: A case is presented of predisposing a patient's father with obligate heterozygous lipoprotein lipase (LPL) deficiency to mild hypertriglyceridemia in Japanese I-family members (n=8) with patient DI, who was a compound heterozygote for a novel missense mutation of G154V (GG(716)C-->GTC/Gly(154) Val) in exon 5 and a novel splice mutation (Int8/5'-dss/t(+2)c; a T-to-C transition in the invariant GT at position +2 of the 5' donor splice site (dss)) in intron 8 of the LPL gene.
Novel compound heterozygous mutations for lipoprotein lipase deficiency. A G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5' splice site mutation of intron 8.
Yamamoto et al., Suita, Japan. In J Lipid Res, 2001
The patient was a compound heterozygote for novel mutations consisting of a G-to-T transversion at the first nucleotide of exon 5 [+1 position of 3' acceptor splice site (3'-ass) of intron 4] and a T-to-C transition in the invariant GT at position +2 of the 5' donor splice site (5'-dss) of intron 8 (Int8/5'-dss/t(+2)c).
Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
Anvret et al., Stockholm, Sweden. In J Med Genet, 1995
A splicing mutation in the first position of intron 8 (Int8 + 1) was found in a family from England and a missense mutation in exon 12 (Glu250) was detected in a Norwegian family.
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