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 …

[HTML][HTML] Advancements in research on genetic kidney diseases using human-induced pluripotent stem cell-derived kidney organoids

DH Na, S Cui, X Fang, H Lee, SH Eum, YJ Shin… - Cells, 2024 - mdpi.com
Genetic or hereditary kidney disease stands as a pivotal cause of chronic kidney disease
(CKD). The proliferation and widespread utilization of DNA testing in clinical settings have …

The Pathophysiology of Inherited Renal Cystic Diseases

M Satariano, S Ghose, R Raina - Genes, 2024 - mdpi.com
Renal cystic diseases (RCDs) can arise from utero to early adulthood and present with a
variety of symptoms including renal, hepatic, and cardiovascular manifestations. It is well …

[HTML][HTML] Genetic alterations in the neuronal development genes are associated with changes of the tumor immune microenvironment in pancreatic cancer

K Mu, J Fu, J Gai, H Ravichandran… - Annals of pancreatic …, 2023 - ncbi.nlm.nih.gov
Background: Pancreatic ductal adenocarcinoma (PDAC) has a poor prognosis and is highly
metastatic. Our prior studies have demonstrated the critical role of axon guidance pathway …

A decision‐making framework for genomic testing in paediatric nephrology

I Beadell, C Quinlan - Journal of Paediatrics and Child Health, 2023 - Wiley Online Library
Aim Technological advances and increased access have led to genomics expanding
beyond the genetics clinic. Consequently, nephrologists can now order genomic testing for …

Functions of the primary cilium in the kidney and its connection with renal diseases

KR Clearman, CJ Haycraft, MJ Croyle… - Current Topics in …, 2023 - Elsevier
The nonmotile primary cilium is a sensory structure found on most mammalian cell types that
integrates multiple signaling pathways involved in tissue development and postnatal …

A potential therapy using antisense oligonucleotides to treat autosomal recessive polycystic kidney disease

H Li, C Wang, R Che, B Zheng, W Zhou… - Journal of Clinical …, 2023 - mdpi.com
(1) Background: Autosomal recessive polycystic kidney disease (ARPKD) is a rare ciliopathy
characterized by progressively enlarged kidneys with fusiform dilatation of the collecting …

NEDD4 and NEDD4L: Ubiquitin Ligases Closely Related to Digestive Diseases

J Xu, W Jiang, T Hu, Y Long, Y Shen - Biomolecules, 2024 - mdpi.com
Protein ubiquitination is an enzymatic cascade reaction and serves as an important protein
post-translational modification (PTM) that is involved in the vast majority of cellular life …

Overexpression of notch signaling in renin cells leads to a polycystic kidney phenotype

BC Belyea, F Xu, M Wiltsie, H Fountain… - Clinical …, 2023 - portlandpress.com
Polycystic kidney disease (PKD) is an inherited disorder that results in large kidneys,
numerous fluid-filled cysts, and ultimately end-stage kidney disease. PKD is either …

Novel splice site and nonsense variants in PKHD1 cause autosomal recessive polycystic kidney disease in a Chinese Zhuang ethnic family

C Qian, J Yan, X Huang, Z Wang, F Lin - Medicine, 2024 - journals.lww.com
Background: This study aims to report the clinical characteristics of a child with autosomal
recessive polycystic kidney disease (ARPKD) within a Chinese Zhuang ethnic family …