Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.R43C
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APOE

NM_000041.4:p.R43C

Associated Papers

Deciphering the complexity: a case of kidney failure with co-inheritance of COL4A5 and APOE variants.

Zhang X et al.

Bmc Nephrology, 2026

Post-transplantat recurrence of lipoprotein glomerulopathy: report of 4 cases and literature review.

de Menezes Neves PDM et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2025

Identification of a founder haplotype of APOE Kyoto variant in lipoprotein glomerulopathy.

Wu H et al.

Clinical Kidney Journal, 2025

Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.

Podleśny-Drabiniok A et al.

Cell Reports, 2025

40570367 (PubMed )
Supplement: NIHMS2099510-supplement-6.xlsx › VSQR_THP-1

Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features.

Matsunaga A et al.

Journal of Atherosclerosis and Thrombosis, 2025

Clinicopathological characteristics and gene mutations in 11 patients with lipoprotein glomerulopathy.

Qin Y et al.

Renal Failure, 2024

First patient diagnosed with lipoprotein glomerulopathy and Alport syndrome.

Yang L et al.

Nephrology (carlton, Vic.), 2024

Lipoprotein glomerulopathy: a rare cause of steroid-resistant nephrotic syndrome in a child.

Vala K et al.

Cen Case Reports, 2024

Increased risk of kidney failure in patients with genetic kidney disorders.

Elliott MD et al.

The Journal of Clinical Investigation, 2024

39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2

Alzheimer's Disease: Models and Molecular Mechanisms Informing Disease and Treatments.

Nystuen KL et al.

Bioengineering (basel, Switzerland), 2024

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Pinto E Vairo F et al.

Journal of Translational Medicine, 2023

37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3

The first case of lipoprotein glomerulopathy complicated with collagen type III glomerulopathy and literature review.

Liu H et al.

Journal of Nephrology, 2023

Genetics of Alzheimer's disease: an East Asian perspective.

Miyashita A et al.

Journal of Human Genetics, 2023

Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort.

Tomar S et al.

Circulation. Genomic and Precision Medicine, 2022

A novel apolipoprotein E mutation, ApoE Ganzhou (Arg43Cys), in a Chinese son and his father with lipoprotein glomerulopathy: two case reports.

Wang R et al.

Journal of Medical Case Reports, 2022

Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report.

Li Y et al.

Medicine, 2022

The Clinical and Genetic Features in Chinese Children With Steroid-Resistant or Early-Onset Nephrotic Syndrome: A Multicenter Cohort Study.

Zhu X et al.

Frontiers in Medicine, 2022

35755072 (PubMed )
Supplement: Data_Sheet_1.PDF

Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America.

da Silveira-Neto JN et al.

Diagnostic Pathology, 2021

An accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease.

Wang Z et al.

Npj Genomic Medicine, 2021

Lipoprotein glomerulopathy induced by ApoE Kyoto mutation in ApoE-deficient mice.

Wu H et al.

Journal of Translational Medicine, 2021

Case Report: A Pediatric Case of Lipoprotein Glomerulopathy in China and Literature Review.

Song Y et al.

Frontiers in Pediatrics, 2021

Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by APOE mutations.

Yang M et al.

Molecular Genetics & Genomic Medicine, 2020

The Novel Apolipoprotein E Mutation ApoE Chengdu (c.518T>C, p.L173P) in a Chinese Patient with Lipoprotein Glomerulopathy.

Wu H et al.

Journal of Atherosclerosis and Thrombosis, 2018

Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

Liu Y et al.

Plos One, 2015

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.pdf

Apolipoprotein E mutations: a comparison between lipoprotein glomerulopathy and type III hyperlipoproteinemia.

Matsunaga A et al.

Clinical and Experimental Nephrology, 2014

A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy.

Toyota K et al.

Journal of Human Genetics, 2013

Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer's Disease.

Masoodi TA et al.

Neurology Research International, 2012

A young Chinese man with nephrotic syndrome due to lipoprotein glomerulopathy.

Lui DTW et al.

Journal of Clinical Lipidology, 0

Genomics Integration Into Nephrology Practice.

Pinto E Vairo F et al.

Kidney Medicine, 0

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