Varaico: Literature-Extracted Genetic Variants

Gene:STH
Variant:p.Q7R
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STH

NM_001007532.3:p.Q7R

Associated Papers

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Akçimen F et al.

Brain : a Journal of Neurology, 2025

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 2025

40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM4_ESM.xlsx › Supplementary_Data_2

Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.

Khani M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39606324 (PubMed )
Supplement: media-15.xlsx › Supplementary_Table_2

Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.

Saevarsdottir S et al.

Nature Communications, 2024

38982041 (PubMed )
Supplement: 41467_2024_50007_MOESM4_ESM.xlsx › SD3

Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases.

Pedicone C et al.

Molecular Neurodegeneration, 2024

Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology.

Clark LN et al.

Ebiomedicine, 2022

IL-1β, IL-6, IL-10, and TNFα Single Nucleotide Polymorphisms in Human Influence the Susceptibility to Alzheimer's Disease Pathology.

Babić Leko M et al.

Journal of Alzheimer's Disease : Jad, 2020

Advances in the discovery of genetic risk factors for complex forms of neurodegenerative disorders: contemporary approaches, success, challenges and prospects.

Kumar S et al.

Journal of Genetics, 2018

Interactions between four gene polymorphisms and their association with patients with Parkinson's disease in a Chinese Han population.

Lv Z et al.

The International Journal of Neuroscience, 2017

Saitohin Q7R polymorphism is associated with late-onset Alzheimer's disease susceptibility among caucasian populations: a meta-analysis.

Huang R et al.

Journal of Cellular and Molecular Medicine, 2017

Meta-analysis of the association between variants in MAPT and neurodegenerative diseases.

Zhang CC et al.

Oncotarget, 2017

An evolutionary roadmap to the microtubule-associated protein MAP Tau.

Sündermann F et al.

Bmc Genomics, 2016

COMT and STH polymorphisms interaction on cognition in schizophrenia.

Bosia M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015

Association of rs62063857 variant of the saitohin gene with Parkinson's disease.

Sonmez E et al.

Cellular and Molecular Neurobiology, 2015

Association of microtubule associated protein tau/Saitohin (MAPT/STH) MAPT_238bp/STH Q7R polymorphisms and Parkinson's disease: A meta-analysis.

Lu SS et al.

Biochemical and Biophysical Research Communications, 2014

Vascular endothelial growth factor gene promoter polymorphisms and Alzheimer's disease risk: a meta-analysis.

Liu SY et al.

Cns Neuroscience & Therapeutics, 2013

Saitohin polymorphism and executive dysfunction in schizophrenia.

Bosia M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2012

Tau splicing and the intricacies of dementia.

Andreadis A

Journal of Cellular Physiology, 2012

Behavioural genetics of the serotonin transporter.

Haddley K et al.

Current Topics in Behavioral Neurosciences, 2012

Saitohin, which is nested within the tau gene, interacts with tau and Abl and its human-specific allele influences Abl phosphorylation.

Wang Y et al.

Journal of Cellular Biochemistry, 2011

Saitohin and APOE polymorphisms influence cognition and function in persons with advanced Alzheimer Disease.

Schutte DL et al.

Dementia and Geriatric Cognitive Disorders, 2011

Serotonin transporter and saitohin genes in risk of Alzheimer's disease and frontotemporal lobar dementia: preliminary findings.

Lorenzi C et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2010

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.

Zhang G et al.

Human Mutation, 2010

21064102 (PubMed )
Supplement: supplement_1.pdf

Association between interleukin-6 gene promoter -572C/G polymorphism and the risk of sporadic Alzheimer's disease.

He MX et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2010

Association of the MAPT locus with Parkinson's disease.

Wider C et al.

European Journal of Neurology, 2010

The combinations of TNFalpha-308 and IL-6 -174 or IL-10 -1082 genes polymorphisms suggest an association with susceptibility to sporadic late-onset Alzheimer's disease.

Vural P et al.

Acta Neurologica Scandinavica, 2009

Lack of association of APOE and tau polymorphisms with dementia in Parkinson's disease.

Ezquerra M et al.

Neuroscience Letters, 2008

The Q7R polymorphism in the saitohin gene is rare in a southern Chinese population.

Lin K et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2008

Genetic analysis of tumor necrosis factor-alpha (TNF-alpha) G-308A and Saitohin Q7R polymorphisms with Alzheimer's disease.

Wang B et al.

Journal of the Neurological Sciences, 2008

HD phenocopies--possible role of Saitohin gene.

Janković N et al.

The International Journal of Neuroscience, 2008

Tau and saitohin gene expression pattern in progressive supranuclear palsy.

Ezquerra M et al.

Brain Research, 2007

Untangling the tau gene association with neurodegenerative disorders.

Pittman AM et al.

Human Molecular Genetics, 2006

The H2 MAPT haplotype is associated with familial frontotemporal dementia.

Ghidoni R et al.

Neurobiology of Disease, 2006

Variation at APOE and STH loci and Alzheimer's disease.

Zuo L et al.

Behavioral and Brain Functions : Bbf, 2006

Association between glycogen synthase kinase-3beta genetic polymorphism and late-onset Alzheimer's disease.

Mateo I et al.

Dementia and Geriatric Cognitive Disorders, 2006

Saitohin, which is nested in the tau locus and confers allele-specific susceptibility to several neurodegenerative diseases, interacts with peroxiredoxin 6.

Gao L et al.

The Journal of Biological Chemistry, 2005

Evidence suggesting that Homo neanderthalensis contributed the H2 MAPT haplotype to Homo sapiens.

Hardy J et al.

Biochemical Society Transactions, 2005

The tau gene haplotype h1 confers a susceptibility to Parkinson's disease.

Zhang J et al.

European Neurology, 2005

TAU haplotype and the Saitohin Q7R gene polymorphism do not influence CSF Tau in Alzheimer's disease and are not associated with frontotemporal dementia or Parkinson's disease.

Johansson A et al.

Neuro-degenerative Diseases, 2005

Genetic contributions to Parkinson's disease.

Huang Y et al.

Brain Research. Brain Research Reviews, 2004

The structure of the tau haplotype in controls and in progressive supranuclear palsy.

Pittman AM et al.

Human Molecular Genetics, 2004

Molecular evolution and genetics of the Saitohin gene and tau haplotype in Alzheimer's disease and argyrophilic grain disease.

Conrad C et al.

Journal of Neurochemistry, 2004

Microtubule-associated protein tau gene: a risk factor in human neurodegenerative diseases.

Schraen-Maschke S et al.

Neurobiology of Disease, 2004

Sequence analysis of tau 3'untranslated region and saitohin gene in sporadic progressive supranuclear palsy.

Ezquerra M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2004

Strong association between Saitohin gene polymorphism and tau haplotype in the Polish population.

Pepłońska B et al.

Neuroscience Letters, 2003

The Q7R Saitohin gene polymorphism is not associated with Alzheimer disease.

Oliveira SA et al.

Neuroscience Letters, 2003

Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy.

de Silva R et al.

Neurology, 2003

A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation.

O'Connor SE et al.

Neurology, 2003

[Familial forms of Alzheimer's disease].

Maréchal L et al.

Presse Medicale (paris, France : 1983), 2003

Saitohin gene is not associated with Alzheimer's disease.

Streffer JR et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 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."