Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis
Disorders of the autosomal dominant polycystic kidney disease (ADPKD) spectrum are
characterized by the development of kidney cysts and progressive kidney function decline …
characterized by the development of kidney cysts and progressive kidney function decline …
ALG9 mutation carriers develop kidney and liver cysts
Background Mutations in PKD1 or PKD2 cause typical autosomal dominant polycystic
kidney disease (ADPKD), the most common monogenic kidney disease. Dominantly …
kidney disease (ADPKD), the most common monogenic kidney disease. Dominantly …
Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease
ALG8 protein-truncating variants (PTVs) have previously been described in patients with
polycystic liver disease and in some cases cystic kidney disease. Given a lack of well …
polycystic liver disease and in some cases cystic kidney disease. Given a lack of well …
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
SR Senum, YSM Li, KA Benson, G Joli… - The American Journal of …, 2022 - cell.com
Autosomal dominant polycystic kidney disease (ADPKD), characterized by progressive cyst
formation/expansion, results in enlarged kidneys and often end stage kidney disease …
formation/expansion, results in enlarged kidneys and often end stage kidney disease …
Exome sequencing of a clinical population for autosomal dominant polycystic kidney disease
Importance Most studies of autosomal dominant polycystic kidney disease (ADPKD)
genetics have used kidney specialty cohorts, focusing onPKD1andPKD2. These can lead to …
genetics have used kidney specialty cohorts, focusing onPKD1andPKD2. These can lead to …
Gene panel analysis in a large cohort of patients with autosomal dominant polycystic kidney disease allows the identification of 80 potentially causative novel variants …
V Mantovani, S Bin, C Graziano, I Capelli… - Frontiers in …, 2020 - frontiersin.org
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most
common inherited disorders in humans and the majority of patients carry a variant in either …
common inherited disorders in humans and the majority of patients carry a variant in either …
Genetic complexity of autosomal dominant polycystic kidney and liver diseases
E Cornec-Le Gall, VE Torres… - Journal of the American …, 2018 - journals.lww.com
Data indicate significant phenotypic and genotypic overlap, plus a common pathogenesis,
between two groups of inherited disorders, autosomal dominant polycystic kidney diseases …
between two groups of inherited disorders, autosomal dominant polycystic kidney diseases …
Prevalence estimates of polycystic kidney and liver disease by population sequencing
MB Lanktree, A Haghighi, E Guiard… - Journal of the …, 2018 - journals.lww.com
Background Estimating the prevalence of autosomal dominant polycystic kidney disease
(ADPKD) is challenging because of age-dependent penetrance and incomplete clinical …
(ADPKD) is challenging because of age-dependent penetrance and incomplete clinical …
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes
R Schönauer, S Baatz, M Nemitz-Kliemchen… - Genetics in …, 2020 - nature.com
Purpose Autosomal dominant polycystic kidney disease (ADPKD) represents the most
common hereditary nephropathy. Despite growing evidence for genetic heterogeneity …
common hereditary nephropathy. Despite growing evidence for genetic heterogeneity …
[HTML][HTML] A missense mutation in PKD1 attenuates the severity of renal disease
Y Pei, Z Lan, K Wang, M Garcia-Gonzalez, N He… - Kidney international, 2012 - Elsevier
Mutations of PKD1 and PKD2 account for most cases of autosomal dominant polycystic
kidney disease (ADPKD). Compared with PKD2, patients with PKD1 typically have more …
kidney disease (ADPKD). Compared with PKD2, patients with PKD1 typically have more …