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Detection of rare genetic variations in the promoter regions of the ATG16L gene in Parkinson's patients

open access: yesNeuroscience Letters, 2023
Mutations in the ATG genes have been related to impair autophagic function, contributing to the sporadic onset of Parkinsońs Disease (PD). However, scarce studies have been performed about ins/del within the regulatory domains of the autophagy genes in sporadic PD patients. This study was aimed to found ins/del within part of the crucial core autophagy
José M Fuentes   +2 more
exaly   +3 more sources
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Functional Characterization of Genetic Polymorphisms Identified in the Promoter Region of the Xanthine Oxidase Gene

Drug Metabolism and Pharmacokinetics, 2010
Xanthine oxidase (XO) catalyzes the oxidation of endogenous and exogenous purines and pyrimidines. In the present study, we investigated polymorphisms in the promoter region of the XO gene. Sequence variations in the 5'-flanking region were screened using denaturing high-performance liquid chromatography (DHPLC) on DNA samples from 196 unrelated ...
Noriyasu Hirasawa, Masahiro Hiratsuka
exaly   +3 more sources

Isolation and Genetic Localization of Three ϕX174 Promoter Regions

Nature New Biology, 1973
SPECIFIC sequences of nucleic acids such as ribosome binding sites1 (W. Gilbert, cited in ref. 2) and portions of the promoter region3,4 have been isolated by protecting those sequences with the relevant protein or organelle and digesting away the exposed nucleic acid. We have isolated specific sequences from the promoter regions in bacteriophage ϕX174
C Y, Chen, C A, Hutchison, M H, Edgell
openaire   +2 more sources

Genetic polymorphisms in the promoter region of interleukin-8

International Congress Series, 2003
Abstract In septic patients, local and systemic production of interleukin-8 (IL-8) is augmented, and we and other researchers have previously shown that serum IL-8 levels predict the development of multiple organ dysfunction syndrome (MODS) and poor prognosis. There is a wide variation in IL-8 levels among septic patients under similar conditions and
Seitaro Fujishima   +4 more
openaire   +1 more source

A Genetic Polymorphism in the Promoter Region of DRD4 Associated with Expression and Schizophrenia

Biochemical and Biophysical Research Communications, 1999
The human dopamine D4 receptor gene (DRD4) is an important candidate gene for schizophrenia. We identified a novel -521C>T polymorphism in the 5'-promoter region of DRD4. A transient expression method revealed that the T allele of this polymorphism reduces the transcriptional efficiency by 40% compared with the C allele.
Y, Okuyama   +3 more
openaire   +2 more sources

Identification of the promoter region and genetic mutations of the porcine GALP gene

Molecular Biology Reports, 2012
Galanin-like peptide (GALP) gene, encoding a member of the galanin family of neuropeptides involved in reproduction, was differentially expressed in PMSG-hCG stimulated pre-ovulatory ovarian follicles of Chinese Taihu and Large White sows in our previous study.
Lina, Su   +8 more
openaire   +2 more sources

Genetic Polymorphism in the Serotonin Transporter Promoter Region and Ecological Success in Macaques

Behavior Genetics, 2010
A well-characterised sequence length polymorphism in the serotonin transporter promoter region (5-HTTLPR) influences individual behavioural traits and cognitive abilities in humans and rhesus macaques. Macaques have been classified into four continuous grades on the basis of their behavioural attributes, ranging from highly hierarchical and nepotistic ...
Subhankar, Chakraborty   +5 more
openaire   +2 more sources

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