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 …
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 …
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 …
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 …
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 …
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 …
[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 …
Insights into autosomal dominant polycystic kidney disease from genetic studies
MB Lanktree, A Haghighi, I di Bari… - Clinical journal of the …, 2021 - journals.lww.com
Autosomal dominant polycystic kidney disease is the most common monogenic cause of
ESKD. Genetic studies from patients and animal models have informed disease …
ESKD. Genetic studies from patients and animal models have informed disease …
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 …
Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease
M Schmidts, V Frank, T Eisenberger, S Al Turki… - Human …, 2013 - Wiley Online Library
Ciliopathies are genetically heterogeneous disorders characterized by variable expressivity
and overlaps between different disease entities. This is exemplified by the short rib …
and overlaps between different disease entities. This is exemplified by the short rib …