Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.R1279Q
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ACE

NM_000789.4:p.R1279Q

Associated Papers

Alzheimer's disease-linked ACE variants increase ACE1 catalytic activity and production of angiotensin II.

Salvo MA et al.

The Journal of Biological Chemistry, 2026

ACE-Dependent Alzheimer's Disease: Circulating ACE Phenotypes in Heterozygous Carriers of Rare ACE Variants.

Mironenko IV et al.

International Journal of Molecular Sciences, 2025

41009662 (PubMed )
Supplement: ijms-26-09099-s001.zip › ijms-3824164-supplementary.pdf

Structural effect of the H992D/H418D mutation of angiotensin-converting enzyme in the Indian population: implications for health and disease.

Kulshreshtha A et al.

Journal of Biomolecular Structure & Dynamics, 2025

38411559 (PubMed )
Supplement: supplement_1.docx

Effects of Angiotensin-I-Converting Enzyme (ACE) Mutations Associated with Alzheimer's Disease on Blood ACE Phenotype.

Kryukova OV et al.

Biomedicines, 2024

39457722 (PubMed )
Supplement: biomedicines-12-02410-s001.zip › biomedicines-3224268-supplementary.pdf

Carriers of Heterozygous Loss-of-Function ACE Mutations Are at Risk for Alzheimer's Disease.

Danilov SM et al.

Biomedicines, 2024

Effect of ACE mutations on blood ACE phenotype parameters.

Kryukova OV et al.

Plos One, 2024

39378208 (PubMed )
Supplement: pone.0308289.s001.pdf

Evaluating the association between genetically proxied ACE inhibition and dementias.

Nassan M et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2023

The effect of ACE2 receptor, IFN-γ, and TNF-α polymorphisms on the severity and prognosis of the disease in SARS-CoV-2 infection.

Esen SG et al.

Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 2023

Intervention of next-generation sequencing in diagnosis of Alzheimer's disease: challenges and future prospects.

Chandy T

Dementia & Neuropsychologia, 2023

Genetic profiles of familial late-onset Alzheimer's disease in China: The Shanghai FLOAD study.

Xie XY et al.

Genes & Diseases, 2022

In-silico analysis reveals druggable single nucleotide polymorphisms in angiotensin 1 converting enzyme involved in the onset of blood pressure.

Udosen B et al.

Bmc Research Notes, 2021

34930451 (PubMed )
Supplement: 13104_2021_5879_MOESM1_ESM.xlsx › _S.Table_1

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1

Epitope mapping of novel monoclonal antibodies to human angiotensin I-converting enzyme.

Popova IA et al.

Protein Science : a Publication of the Protein Society, 2021

Aβ-accelerated neurodegeneration caused by Alzheimer's-associated ACE variant R1279Q is rescued by angiotensin system inhibition in mice.

Cuddy LK et al.

Science Translational Medicine, 2020

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 › S1

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

Sassi C et al.

Plos One, 2016

27249223 (PubMed )
Supplement: pone.0150079.s002.xlsx › Tabelle1

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S et al.

Frontiers in Genetics, 2015

26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

Strom SP et al.

Bmc Medical Genetics, 2014

24886118 (PubMed )
Supplement: 1471-2350-15-49-S6.xlsx › Sheet1

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
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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."