[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 …
[HTML][HTML] GANAB and N-Glycans Substrates Are Relevant in Human Physiology, Polycystic Pathology and Multiple Sclerosis: A Review
R De Masi, S Orlando - International Journal of Molecular Sciences, 2022 - mdpi.com
Glycans are one of the four fundamental macromolecular components of living matter, and
they are highly regulated in the cell. Their functions are metabolic, structural and modulatory …
they are highly regulated in the cell. Their functions are metabolic, structural and modulatory …
[HTML][HTML] Heterozygosity of ALG9 in association with autosomal dominant polycystic liver disease
MM Boerrigter, R Duijzer, RHM Te Morsche… - Genes, 2023 - mdpi.com
α-1, 2-mannosyltransferase (ALG9) germline variants are linked to autosomal dominant
polycystic kidney disease (ADPKD). Many individuals affected with ADPKD possess …
polycystic kidney disease (ADPKD). Many individuals affected with ADPKD possess …
[HTML][HTML] Novel GANAB variants associated with polycystic liver disease
LFM van de Laarschot, RHM Te Morsche… - Orphanet journal of rare …, 2020 - Springer
Background Polycystic liver disease (PLD) is an inherited disorder characterized by
numerous cysts in the liver. Autosomal dominant polycystic kidney and liver disease …
numerous cysts in the liver. Autosomal dominant polycystic kidney and liver disease …
[HTML][HTML] Novel α-1, 3-Glucosyltransferase Variants and Their Broad Clinical Polycystic Liver Disease Spectrum
MM Boerrigter, RHM Te Morsche, H Venselaar… - Genes, 2023 - mdpi.com
Protein-truncating variants in α-1, 3-glucosyltransferase (ALG8) are a risk factor for a mild
cystic kidney disease phenotype. The association between these variants and liver cysts is …
cystic kidney disease phenotype. The association between these variants and liver cysts is …
Revisiting the gene mutations and protein profile of WT 9‐12: An autosomal dominant polycystic kidney disease cell line
WT 9‐12 is one of the cell lines commonly used for autosomal dominant polycystic kidney
disease (ADPKD) studies. Previous studies had described the PKD gene mutations and …
disease (ADPKD) studies. Previous studies had described the PKD gene mutations and …
[PDF][PDF] Dimer formation Assay of GANAB cDNA in Lung Cancer Cells
D Wang, T Wang - Ann Clin Med Case Rep, 2023 - acmcasereport.org
1. Background: Glucosidase II is an endoplasmic reticulum heterodimer enzyme, a neutral
glucosidase, involved in the trading and folding of newly synthesized glycoproteins in the …
glucosidase, involved in the trading and folding of newly synthesized glycoproteins in the …
[HTML][HTML] Copy Number Variation: A New Genetic Form of Polycystic Kidney and Liver Disease
T Fujimaru, E Sohara - Kidney International Reports, 2020 - kireports.org
Autosomal dominant polycy-stic kidney disease (ADPKD) is the most common inherited
kidney disease, occurring in approximately 1 in every 400 to 1000 live births. 1 ADPKD is …
kidney disease, occurring in approximately 1 in every 400 to 1000 live births. 1 ADPKD is …