Autosomal dominant polycystic kidney disease: Is there a role for autophagy?
C Ponticelli, G Moroni, F Reggiani - International Journal of Molecular …, 2023 - mdpi.com
Autosomal-Dominant Polycystic Kidney Disease (ADPKD) is a monogenic disorder initiated
by mutations in either PKD1 or PKD2 genes, responsible for encoding polycystin 1 and …
by mutations in either PKD1 or PKD2 genes, responsible for encoding polycystin 1 and …
Review of the use of animal models of human polycystic kidney disease for the evaluation of experimental therapeutic modalities
S Nagao, T Yamaguchi - Journal of Clinical Medicine, 2023 - mdpi.com
Autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney
disease, and nephronophthisis are hereditary disorders with the occurrence of numerous …
disease, and nephronophthisis are hereditary disorders with the occurrence of numerous …
A cAMP signalosome in primary cilia drives gene expression and kidney cyst formation
JN Hansen, F Kaiser, P Leyendecker, B Stüven… - EMBO …, 2022 - embopress.org
The primary cilium constitutes an organelle that orchestrates signal transduction
independently from the cell body. Dysregulation of this intricate molecular architecture leads …
independently from the cell body. Dysregulation of this intricate molecular architecture leads …
[HTML][HTML] Next generation sequencing identifies WNT signalling as a significant pathway in Autosomal Recessive Polycystic Kidney Disease (ARPKD) manifestation …
T Richards, P Wilson, P Goggolidou - Biochimica et Biophysica Acta (BBA) …, 2024 - Elsevier
Abstract Introduction Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare
paediatric disease primarily caused by sequence variants in PKHD1. ARPKD presents with …
paediatric disease primarily caused by sequence variants in PKHD1. ARPKD presents with …
Renal Ciliopathies: Promising drug targets and prospects for clinical trials
L Devlin, P Dhondurao Sudhindar… - Expert Opinion on …, 2023 - Taylor & Francis
Introduction Renal ciliopathies represent a collection of genetic disorders characterized by
deficiencies in the biogenesis, maintenance, or functioning of the ciliary complex. These …
deficiencies in the biogenesis, maintenance, or functioning of the ciliary complex. These …
Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations
Hepatocyte nuclear factor 1B (HNF1B) encodes a transcription factor expressed in
developing human kidney epithelia. Heterozygous HNF1B mutations are the commonest …
developing human kidney epithelia. Heterozygous HNF1B mutations are the commonest …
PKD1 gene mutation and ultrasonographic characterization in cats with renal cysts
K Jaturanratsamee, P Jiwaganont… - …, 2024 - f1000research.com
Background Polycystic kidney disease (PKD) has a complex phenotype partly explained by
genetic variants related to this disease. Ultrasonography is a promising approach for …
genetic variants related to this disease. Ultrasonography is a promising approach for …
[HTML][HTML] Renal cystic disease
SY Goksu, SW Leslie, D Khattar - StatPearls [Internet], 2023 - ncbi.nlm.nih.gov
Renal Cystic Disease - StatPearls - NCBI Bookshelf US flag An official website of the United
States government Here's how you know NIH NLM Logo Access keys NCBI Homepage …
States government Here's how you know NIH NLM Logo Access keys NCBI Homepage …
Using a Zebrafish pkd2-knockdown model to study the development of kidney cysts
H Nasirie - 2024 - opal.latrobe.edu.au
Using a Zebrafish Pkd2-Knockdown Model to Study the Development of Kidney Cysts Page
1 1 Using a Zebrafish Pkd2-Knockdown Model to Study the Development of Kidney Cysts …
1 1 Using a Zebrafish Pkd2-Knockdown Model to Study the Development of Kidney Cysts …
The genetic interactions of PKHD1 and ATMIN in autosomal recessive polycystic kidney disease (ARPKD)
T Richards - 2023 - wlv.openrepository.com
The main gene associated with Autosomal Recessive Polycystic Kidney Disease (ARPKD)
is PKHD1 which encodes a ciliary protein associated with planar cell polarity. In mice …
is PKHD1 which encodes a ciliary protein associated with planar cell polarity. In mice …