Varaico: Literature-Extracted Genetic Variants

Gene:ADAM10
Variant:p.Q170H
Back to variants list

ADAM10

NM_001110.4:p.Q170H

Associated Papers

Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors.

Bagyinszky E et al.

International Journal of Molecular Sciences, 2024

Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.

Fernandez-Luna JL et al.

Molecular Genetics & Genomic Medicine, 2024

38803233 (PubMed )
Supplement: MGG3-12-e2471-s001.xls › Sheet1

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

The role of genetic risk factors of Alzheimer's disease in synaptic dysfunction.

Fu WY et al.

Seminars in Cell & Developmental Biology, 2023

ADAM10 Gene Variants in AD Patients and Their Relationship to CSF Protein Levels.

Agüero-Rabes P et al.

International Journal of Molecular Sciences, 2023

AmazonForest: In Silico Metaprediction of Pathogenic Variants.

Palheta HGA et al.

Biology, 2022

A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.

Acosta-Uribe J et al.

Genome Medicine, 2022

35260199 (PubMed )
Supplement: 13073_2022_1035_MOESM13_ESM.xlsx › Additional_file_11_Table_S11

Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Khani M et al.

Molecular Neurodegeneration, 2022

Genomics and Functional Genomics of Alzheimer's Disease.

Kamboh MI

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2022

Sulfuretin exerts diversified functions in the processing of amyloid precursor protein.

Chen J et al.

Genes & Diseases, 2021

α-Secretase nonsense mutation (ADAM10 Tyr167*) in familial Alzheimer's disease.

Agüero P et al.

Alzheimer's Research & Therapy, 2020

Substrate-Specific Activation of α-Secretase by 7-Deoxy-Trans-Dihydronarciclasine Increases Non-Amyloidogenic Processing of β-Amyloid Protein Precursor.

Chun YS et al.

Molecules (basel, Switzerland), 2020

Protein-protein interactions underlying the behavioral and psychological symptoms of dementia (BPSD) and Alzheimer's disease.

Mao Y et al.

Plos One, 2020

31951614 (PubMed )
Supplement: pone.0226021.s001.xlsx › Sheet2

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc2.xlsx › SNVs

Untangling Genetic Risk for Alzheimer's Disease.

Pimenova AA et al.

Biological Psychiatry, 2018

Genetic underpinnings in Alzheimer's disease - a review.

Moustafa AA et al.

Reviews in the Neurosciences, 2018

The genetic landscape of Alzheimer disease.

Carmona S et al.

Handbook of Clinical Neurology, 2018

Molecular Genetics of Neurodegenerative Dementias.

Hinz FI et al.

Cold Spring Harbor Perspectives in Biology, 2017

Monoaminergic neuropathology in Alzheimer's disease.

Šimić G et al.

Progress in Neurobiology, 2017

State of Play in Alzheimer's Disease Genetics.

Zhu JB et al.

Journal of Alzheimer's Disease : Jad, 2017

Alzheimer's Disease: From Genetic Variants to the Distinct Pathological Mechanisms.

Sun Q et al.

Frontiers in Molecular Neuroscience, 2017

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques.

Pan Q et al.

Plos One, 2016

Genes associated with Alzheimer's disease: an overview and current status.

Giri M et al.

Clinical Interventions in Aging, 2016

Modeling Alzheimer's Disease with Induced Pluripotent Stem Cells: Current Challenges and Future Concerns.

Zhang W et al.

Stem Cells International, 2016

Genetic diagnosis and prognosis of Alzheimer's disease: challenges and opportunities.

Reitz C

Expert Review of Molecular Diagnostics, 2015

Alzheimer's disease risk genes and mechanisms of disease pathogenesis.

Karch CM et al.

Biological Psychiatry, 2015

Additional mechanisms conferring genetic susceptibility to Alzheimer's disease.

Calero M et al.

Frontiers in Cellular Neuroscience, 2015

Alzheimer's disease genetics: from the bench to the clinic.

Karch CM et al.

Neuron, 2014

Clinical genetics of Alzheimer's disease.

Zou Z et al.

Biomed Research International, 2014

Identification of rare variants in Alzheimer's disease.

Lord J et al.

Frontiers in Genetics, 2014

ADAM10 missense mutations potentiate β-amyloid accumulation by impairing prodomain chaperone function.

Suh J et al.

Neuron, 2013

ADAM10 prodomain mutations cause late-onset Alzheimer's disease: not just the latest FAD.

Vassar R

Neuron, 2013

A brief history of Alzheimer's disease gene discovery.

Tanzi RE

Journal of Alzheimer's Disease : Jad, 2013

The genetics of Alzheimer disease.

Tanzi RE

Cold Spring Harbor Perspectives in Medicine, 2012

The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE.

Guerreiro RJ et al.

Neurobiology of Aging, 2012

Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer disease.

Cai G et al.

Neurobiology of Aging, 2012

Genetic association between ADAM10 gene polymorphism and Alzheimer's disease in a Northern Han Chinese population.

Song JH et al.

Brain Research, 2011

Amyloid precursor protein (APP) processing genes and cerebrospinal fluid APP cleavage product levels in Alzheimer's disease.

Bekris LM et al.

Neurobiology of Aging, 2011

Genetics and biology of Alzheimer's disease and frontotemporal lobar degeneration.

Galimberti D et al.

International Journal of Clinical and Experimental Medicine, 2010

Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity.

Kim M et al.

Human Molecular Genetics, 2009

Computational analysis and molecular dynamics simulation of high-risk single nucleotide polymorphisms of the ADAM10 gene.

Namme JN et al.

Journal of Biomolecular Structure & Dynamics, 0

36995110 (PubMed )
Supplement: supplement_1.zip › suppl_data › Supplementary_file_1_423_nsSNPs_10_tools.xlsx › Sheet1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."