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
Effect of ACE mutations on blood ACE phenotype parameters.
Kryukova OV et al.
Plos One, 2024
39378208 (PubMed )
Supplement: pone.0308289.s001.pdf
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
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
Oligohydramnios associated with sonographically normal kidneys.
John U et al.
Urology, 2012
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Gribouval O et al.
Human Mutation, 2012
Genetics of congenital anomalies of the kidney and urinary tract.
Song R et al.
Pediatric Nephrology (berlin, Germany), 2011
Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system.
Lacoste M et al.
Journal of the American Society of Nephrology : Jasn, 2006
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
Gribouval O et al.
Nature Genetics, 2005
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