Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.A56_K62del0
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PARK7

NM_007262.5:p.A56_K62del0

Associated Papers

Parkinson's disease-associated 18 bp promoter variant of DJ-1 alters REST binding and regulates its expression.

Pal P et al.

Neuroscience Letters, 2023

Association between a DJ-1 polymorphism and the risk of Parkinson's disease: a PRISMA-compliant systematic review and meta-analysis.

Liu J et al.

The Journal of International Medical Research, 2020

Lack of Association Between DJ-1 Gene Promoter Polymorphism and the Risk of Parkinson's Disease.

He L et al.

Frontiers in Aging Neuroscience, 2019

Genetic polymorphisms and haplotypes of the DJ-1 gene promoter associated with the susceptibility to male infertility.

Jahantigh D et al.

Journal of Assisted Reproduction and Genetics, 2017

Genetic analysis of indel markers in three loci associated with Parkinson's disease.

Huo Z et al.

Plos One, 2017

Screening of two indel polymorphisms in the 5'UTR of the DJ-1 gene in South African Parkinson's disease patients.

Glanzmann B et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2014

DJ-1 variants in Indian Parkinson's disease patients.

Sadhukhan T et al.

Disease Markers, 2012

Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report.

Bettencourt C et al.

Bmc Neurology, 2011

Bridging molecular genetics and biomarkers in lewy body and related disorders.

Ho GJ et al.

International Journal of Alzheimer's Disease, 2011

DJ-1 is a Parkinson's disease susceptibility gene in southern Italy.

De Marco EV et al.

Clinical Genetics, 2010

DJ-1 and prevention of oxidative stress in Parkinson's disease and other age-related disorders.

Kahle PJ et al.

Free Radical Biology & Medicine, 2009

Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene.

Keyser RJ et al.

Bmc Medical Genetics, 2009

Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism.

Tarantino P et al.

Parkinsonism & Related Disorders, 2009

DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.

Annesi G et al.

Annals of Neurology, 2005

Causes of Parkinson's disease: genetics of DJ-1.

Abou-Sleiman PM et al.

Cell and Tissue Research, 2004

DJ-1: the second gene for early onset Parkinson disease.

Bandmann O

Neurology, 2004

Patients with severe muscle wasting are prone to develop hypoglycemia during fasting.

Ørngreen MC et al.

Neurology, 2003

Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD.

Eerola J et al.

Neurology, 2003

Huntington's disease--like 2 can present as chorea-acanthocytosis.

Walker RH et al.

Neurology, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."