Genetics of kidney stone disease

SA Howles, RV Thakker - Nature Reviews Urology, 2020 - nature.com
Kidney stone disease (nephrolithiasis) is a common problem that can be associated with
alterations in urinary solute composition including hypercalciuria. Studies suggest that the …

TRPV5 and TRPV6 calcium-selective channels

JB Peng, Y Suzuki, G Gyimesi… - Calcium entry channels …, 2017 - taylorfrancis.com
This chapter reviews the physiological and pathological roles of TRPV5 and TRPV6 and
discusses a variety of techniques that have led to a deeper understanding of these …

Structural insight into TRPV5 channel function and modulation

S Dang, MK Van Goor, D Asarnow… - Proceedings of the …, 2019 - National Acad Sciences
TRPV5 (transient receptor potential vanilloid 5) is a unique calcium-selective TRP channel
essential for calcium homeostasis. Unlike other TRPV channels, TRPV5 and its close …

MECHANISMS IN ENDOCRINOLOGY: Kidney involvement in patients with primary hyperparathyroidism: an update on clinical and molecular aspects

C Verdelli, S Corbetta - European journal of endocrinology, 2017 - academic.oup.com
Primary hyperparathyroidism (PHPT) is the third most common endocrine disease. Kidney is
a target of both chronic elevated PTH and calcium in PHPT. The classic PHPT complications …

Targeting TRP channels: recent advances in structure, ligand binding, and molecular mechanisms

J Huang, A Korsunsky, M Yazdani… - Frontiers in Molecular …, 2024 - frontiersin.org
Transient receptor potential (TRP) channels are a large and diverse family of
transmembrane ion channels that are widely expressed, have important physiological roles …

Molecular mechanisms altering tubular calcium reabsorption

ML Downie, RT Alexander - Pediatric Nephrology, 2022 - Springer
The majority of calcium filtered by the glomerulus is reabsorbed along the nephron. Most is
reabsorbed from the proximal tubule (> 60%) via a paracellular pathway composed of the …

The ion channel TRPV5 regulates B-cell signaling and activation

T Mahtani, H Sheth, LK Smith, L Benedict… - Frontiers in …, 2024 - frontiersin.org
Introduction B-cell activation triggers the release of endoplasmic reticulum calcium stores
through the store-operated calcium entry (SOCE) pathway resulting in calcium influx by …

Calcium-permeable ion channels in the kidney

Y Zhou, A Greka - American Journal of Physiology-Renal …, 2016 - journals.physiology.org
Calcium ions (Ca2+) are crucial for a variety of cellular functions. The extracellular and
intracellular Ca2+ concentrations are thus tightly regulated to maintain Ca2+ homeostasis …

Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria

N Guleray Lafci, M van Goor, S Cetinkaya… - European Journal of …, 2024 - nature.com
Hypercalciuria is the most common metabolic risk factor in people with kidney stone
disease. Its etiology is mostly multifactorial, although monogenetic causes of hypercalciuria …

Transient receptor potential vanilloid (TRPV) channels: Basal properties and physiological potential

T Sasase, F Fatchiyah, T Ohta - General physiology …, 2022 - repository.kulib.kyoto-u.ac.jp
Transient receptor potential vanilloid (TRPV) channels are TRP homologs and have been
classified into six subfamilies. They are unique mediators of sensory signals with multiple …