Varaico: Literature-Extracted Genetic Variants

Gene:ABCA7
Variant:p.G215S
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ABCA7

NM_019112.4:p.G215S

Associated Papers

Structural insights into human ABCA7-mediated lipid transport.

Fang SC et al.

Structure (london, England : 1993), 2025

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

Bagyinszky E et al.

International Journal of Molecular Sciences, 2024

Alzheimer's Disease and Effects of ABCA7 Polymorphisms: A Review.

Gialama V et al.

Journal of Integrative Neuroscience, 2024

The Abca7V1613M variant reduces Aβ generation, plaque load, and neuronal damage.

Butler CA et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

The ABC's of Alzheimer risk gene ABCA7.

Duchateau L et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

Neuroprotective factors affect the progression of Alzheimer's disease.

Liu Y et al.

Biochemical and Biophysical Research Communications, 2023

The role of ATP-binding cassette subfamily A in the etiology of Alzheimer's disease.

Bossaerts L et al.

Molecular Neurodegeneration, 2022

Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion.

Bossaerts L et al.

Acta Neuropathologica Communications, 2022

ABCA7, a Genetic Risk Factor Associated with Alzheimer's Disease Risk in African Americans.

Stepler KE et al.

Journal of Alzheimer's Disease : Jad, 2022

Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer's disease in a multigenerational Colombian Family.

Tejada Moreno JA et al.

Plos One, 2022

Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Bartoletti-Stella A et al.

Frontiers in Aging Neuroscience, 2022

36133075 (PubMed )
Supplement: Table_1.XLSX › AD_058_N

Genomics of Alzheimer's disease implicates the innate and adaptive immune systems.

Li Y et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Protective genes and pathways in Alzheimer's disease: moving towards precision interventions.

Seto M et al.

Molecular Neurodegeneration, 2021

Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Blumenau S et al.

Scientific Reports, 2020

32345996 (PubMed )
Supplement: 41598_2020_63183_MOESM5_ESM.xlsx › S2

The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics.

De Roeck A et al.

Acta Neuropathologica, 2019

ABCA7 and Pathogenic Pathways of Alzheimer's Disease.

Aikawa T et al.

Brain Sciences, 2018

The genetic landscape of Alzheimer disease.

Carmona S et al.

Handbook of Clinical Neurology, 2018

Genetics of Alzheimer's disease: From pathogenesis to clinical usage.

Shao W et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2017

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.

De Roeck A et al.

Acta Neuropathologica, 2017

ABCA7 p.G215S as potential protective factor for Alzheimer's disease.

Sassi C et al.

Neurobiology of Aging, 2016

Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

Wong TN et al.

Nature, 2015

25487151 (PubMed )
Supplement: NIHMS635306-supplement-5.xlsx › taml.extension.all.tier1.2013.0

Genetic Risk Factors for Alzheimer Disease: Emerging Roles of Microglia in Disease Pathomechanisms.

Takatori S et al.

Advances in Experimental Medicine and Biology, 0

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