[HTML][HTML] Polycystic kidney disease, autosomal dominant
PC Harris, VE Torres - 2018 - europepmc.org
Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset
multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased …
multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased …
[PDF][PDF] 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 …
Emerging mechanistic understanding of cilia function in cellular signalling
Primary cilia are solitary, immotile sensory organelles present on most cells in the body that
participate broadly in human health, physiology and disease. Cilia generate a unique …
participate broadly in human health, physiology and disease. Cilia generate a unique …
[HTML][HTML] Human IFT-A complex structures provide molecular insights into ciliary transport
M Jiang, VR Palicharla, D Miller, SH Hwang, H Zhu… - Cell Research, 2023 - nature.com
Intraflagellar transport (IFT) complexes, IFT-A and IFT-B, form bidirectional trains that move
along the axonemal microtubules and are essential for assembling and maintaining cilia …
along the axonemal microtubules and are essential for assembling and maintaining cilia …
[PDF][PDF] A spectrum of recessiveness among Mendelian disease variants in UK Biobank
Recent work has found increasing evidence of mitigated, incompletely penetrant
phenotypes in heterozygous carriers of recessive Mendelian disease variants. We …
phenotypes in heterozygous carriers of recessive Mendelian disease variants. We …
[HTML][HTML] Utility of new image-derived biomarkers for autosomal dominant polycystic kidney disease prognosis using automated instance cyst segmentation
New image-derived biomarkers for patients affected by autosomal dominant polycystic
kidney disease are needed to improve current clinical management. The measurement of …
kidney disease are needed to improve current clinical management. The measurement of …
[HTML][HTML] Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD
Y Hort, P Sullivan, L Wedd, L Fowles… - NPJ Genomic …, 2023 - nature.com
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic
cause of kidney failure and is primarily associated with PKD1 or PKD2. Approximately 10 …
cause of kidney failure and is primarily associated with PKD1 or PKD2. Approximately 10 …
The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait
H Ali, M Naim, SR Senum, A AlSahow… - Clinical Kidney …, 2023 - academic.oup.com
Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common
renal monogenic disease, characterized by bilateral accumulation of renal fluid-filled cysts …
renal monogenic disease, characterized by bilateral accumulation of renal fluid-filled cysts …
[HTML][HTML] Nephronophthisis
M Stokman, M Lilien, N Knoers - 2016 - europepmc.org
Nephronophthisis - Abstract - Europe PMC Sign in | Create an account https://orcid.org Europe
PMC Menu About Tools Developers Help Contact us Helpdesk Feedback Twitter Blog Tech …
PMC Menu About Tools Developers Help Contact us Helpdesk Feedback Twitter Blog Tech …
A SEC61A1 variant is associated with autosomal dominant polycystic liver disease
B Schlevogt, V Schlieper, J Krader, R Schröter… - Liver …, 2023 - Wiley Online Library
Abstract Background and Aims Autosomal dominant polycystic liver and kidney disease is a
spectrum of hereditary diseases, which display disturbed function of primary cilia leading to …
spectrum of hereditary diseases, which display disturbed function of primary cilia leading to …