Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.R719W
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ACE

NM_000789.4:p.R719W

Associated Papers

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

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

38255267 (PubMed )
Supplement: biomedicines-12-00162-s001.zip › biomedicines-2780808-Supplementary.pdf

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1

Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation.

Wang J et al.

Scientific Reports, 2018

Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

García-Giustiniani D et al.

Heart (british Cardiac Society), 2015

25935763 (PubMed )
Supplement: heartjnl-2014-307205-s1.pdf

Multiple mutations in genetic cardiovascular disease: a marker of disease severity?

Kelly M et al.

Circulation. Cardiovascular Genetics, 2009

Hypertrophic cardiomyopathy: management issues in the new millennium.

Thaman R et al.

Current Cardiology Reports, 2002

The molecular genetics of hypertrophic cardiomyopathy: prognostic implications.

Sorajja P et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2000

Familial hypertrophic cardiomyopathy. Genetic characterization.

Tirone AP et al.

Arquivos Brasileiros De Cardiologia, 1999

Sudden cardiac death in familial hypertrophic cardiomyopathy: are "benign" mutations really benign?

Semsarian C et al.

Pathology, 1997

Angiotensin-converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death.

Marian AJ et al.

Lancet (london, England), 1993

[Familial complete atrioventricular block in patients with hypertrophic cardiomyopathy].

Albanesi Filho FM et al.

Arquivos Brasileiros De Cardiologia, 1992

[Familial hypertrophic cardiomyopathy of early disclosure].

Pochmalicki G et al.

Annales De Pediatrie, 1987

[Familial incidence and modes of inheritance of hypertrophic cardiomyopathy. Genetic analysis of several families].

Stritoni P et al.

Cardiologia (rome, Italy), 1983

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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."