Mechanistic insights into the primary and secondary alterations of renal ion and water transport in the distal nephron

N Tabibzadeh, G Crambert - Journal of Internal Medicine, 2023 - Wiley Online Library
The kidneys, by equilibrating the outputs to the inputs, are essential for maintaining the
constant volume, pH, and electrolyte composition of the internal milieu. Inability to do so …

Rare monogenic diseases: molecular pathophysiology and novel therapies

I Condò - International Journal of Molecular Sciences, 2022 - mdpi.com
A rare disease is defined by its low prevalence in the general population. Although the fixed
threshold slightly varies between different countries, a specific disorder is usually …

Modeling of Fabry disease nephropathy using patient derived human induced pluripotent stem cells and kidney organoid system

S Cui, X Fang, H Lee, YJ Shin, ES Koh… - Journal of Translational …, 2023 - Springer
Objectives To explore the possibility of kidney organoids generated using patient derived
human induced pluripotent stem cells (hiPSC) for modeling of Fabry disease nephropathy …

CRISPR-Cas9-Mediated Correction of SLC12A3 Gene Mutation Rescues the Gitelman's Disease Phenotype in a Patient-Derived Kidney Organoid System

SW Lim, X Fang, S Cui, H Lee, YJ Shin, EJ Ko… - International Journal of …, 2023 - mdpi.com
The aim of this study is to explore the possibility of modeling Gitelman's disease (GIT) with
human-induced pluripotent stem cell (hiPSC)-derived kidney organoids and to test whether …

[HTML][HTML] Genetic diagnosis and treatment of inherited renal tubular acidosis

W Guo, P Ji, Y Xie - Kidney Diseases, 2023 - karger.com
Background: Renal tubular acidosis (RTA) is caused by various disruptions to the secretion
of H+ by distal renal tubules and/or dysfunctional reabsorption of HCO 3− by proximal renal …

Genetic diagnosis and treatment of hereditary renal tubular disease with hypokalemia and alkalosis

W Guo, P Ji, Y Xie - Journal of Nephrology, 2023 - Springer
Renal tubules play an important role in maintaining water, electrolyte, and acid–base
balance. Renal tubule dysfunction can cause electrolyte disorders and acid–base …

Metabolic Acid-Base Disorders.

SA Lentz, D Ackil - Emergency Medicine Clinics of North America, 2023 - europepmc.org
Metabolic acid-base disturbances are frequently encountered in the emergency department,
and many of these patients are critically ill. In the evaluation of patients with these maladies …

Detecting pathogenic deep intronic variants in Gitelman syndrome

R Rossanti, T Horinouchi, N Sakakibara… - American Journal of …, 2022 - Wiley Online Library
Gitelman syndrome (GS) is a rare, autosomal recessive, salt‐losing tubulopathy caused by
loss of function in the SLC12A3 gene (NM_000339. 2), which encodes the natrium chloride …

Computational investigation of turmeric phytochemicals targeting PTR1 enzyme of Leishmania species

W Ullah, WF Wu, N Malak, N Nasreen, AA Swelum… - Heliyon, 2024 - cell.com
In this study, we used in silico techniques to identify available parasite treatments,
representing a promising therapeutic avenue. Building upon our computational initiatives …

Genetic kidney diseases (GKDs) modeling using genome editing technologies

F Gómez-García, R Martínez-Pulleiro, N Carrera… - Cells, 2022 - mdpi.com
Genetic kidney diseases (GKDs) are a group of rare diseases, affecting approximately about
60 to 80 per 100,000 individuals, for which there is currently no treatment that can cure them …