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 …

Ligand-binding sites in vanilloid-subtype TRP channels

MV Yelshanskaya, AI Sobolevsky - Frontiers in Pharmacology, 2022 - frontiersin.org
Vanilloid-subfamily TRP channels TRPV1-6 play important roles in various physiological
processes and are implicated in numerous human diseases. Advances in structural biology …

Common and rare variants associated with kidney stones and biochemical traits

A Oddsson, P Sulem, H Helgason… - Nature …, 2015 - nature.com
Kidney stone disease is a complex disorder with a strong genetic component. We conducted
a genome-wide association study of 28.3 million sequence variants detected through whole …

Ways of calcium reabsorption in the kidney

MB Moor, O Bonny - American Journal of Physiology-Renal …, 2016 - journals.physiology.org
The role of the kidney in calcium homeostasis has been reshaped from a classic view in
which the kidney was regulated by systemic calcitropic hormones such as vitamin D3 or …

Progress in understanding the genetics of calcium-containing nephrolithiasis

JA Sayer - Journal of the American Society of Nephrology, 2017 - journals.lww.com
Renal stone disease is a frequent condition, causing a huge burden on health care systems
globally. Calcium-based calculi account for around 75% of renal stone disease and 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 …

Genetics of common complex kidney stone disease: insights from genome-wide association studies

R Palsson, OS Indridason, VO Edvardsson, A Oddsson - Urolithiasis, 2019 - Springer
Kidney stone disease is a common disorder in Western countries that is associated with
significant suffering, morbidity, and cost for the healthcare system. Numerous studies have …

TRPV5: A Ca2+ Channel for the Fine-Tuning of Ca2+ Reabsorption

T Na, JB Peng - Mammalian Transient Receptor Potential (TRP) Cation …, 2014 - Springer
TRPV5 is one of the two channels in the TRPV family that exhibit high selectivity to Ca 2+
ions. TRPV5 mediates Ca 2+ influx into cells as the first step to transport Ca 2+ across …

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 …

Gentamicin Inhibits Ca2+ Channel TRPV5 and Induces Calciuresis Independent of the Calcium-Sensing Receptor–Claudin-14 Pathway

WH van Megen, MR Beggs, SW An… - Journal of the …, 2022 - journals.lww.com
Background Treatment with the aminoglycoside antibiotic gentamicin can be associated with
severe adverse effects, including renal Ca 2+ wasting. The underlying mechanism is …