The genetics of kidney stone disease and nephrocalcinosis

P Singh, PC Harris, DJ Sas, JC Lieske - Nature Reviews Nephrology, 2022 - nature.com
Kidney stones (also known as urinary stones or nephrolithiasis) are highly prevalent,
affecting approximately 10% of adults worldwide, and the incidence of stone disease is …

Claudins and the modulation of tight junction permeability

D Günzel, ASL Yu - Physiological reviews, 2013 - journals.physiology.org
Claudins are tight junction membrane proteins that are expressed in epithelia and
endothelia and form paracellular barriers and pores that determine tight junction …

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 …

Tight junction, selective permeability, and related diseases

SM Krug, JD Schulzke, M Fromm - Seminars in cell & developmental …, 2014 - Elsevier
The tight junction forms a barrier against unlimited paracellular passage but some of the
tight junction proteins just do the opposite, they form extracellular channels zigzagging …

Development of Cell-Active N6-Methyladenosine RNA Demethylase FTO Inhibitor

B Chen, F Ye, L Yu, G Jia, X Huang… - Journal of the …, 2012 - ACS Publications
The direct nucleic acid repair dioxygenase FTO is an enzyme that demethylates N 6-
methyladenosine (m6A) residues in mRNA in vitro and inside cells. FTO is the first RNA …

Kidney stones 2012: pathogenesis, diagnosis, and management

K Sakhaee, NM Maalouf, B Sinnott - The Journal of Clinical …, 2012 - academic.oup.com
Context: The pathogenetic mechanisms of kidney stone formation are complex and involve
both metabolic and environmental risk factors. Over the past decade, major advances have …

Skeletal and extraskeletal disorders of biomineralization

MT Collins, G Marcucci, HJ Anders, G Beltrami… - Nature Reviews …, 2022 - nature.com
The physiological process of biomineralization is complex and deviation from it leads to a
variety of diseases. Progress in the past 10 years has enhanced understanding of the …

Claudin‐14 regulates renal Ca++ transport in response to CaSR signalling via a novel microRNA pathway

Y Gong, V Renigunta, N Himmerkus, J Zhang… - The EMBO …, 2012 - embopress.org
The paracellular claudin channel of the thick ascending limb (TAL) of Henle is critical for
Ca++ reabsorption in the kidney. Genome‐wide association studies (GWASs) have …

Claudin-2 deficiency associates with hypercalciuria in mice and human kidney stone disease

JN Curry, M Saurette, M Askari, L Pei… - The Journal of …, 2020 - Am Soc Clin Investig
The major risk factor for kidney stone disease is idiopathic hypercalciuria. Recent evidence
implicates a role for defective calcium reabsorption in the renal proximal tubule. We …

Increasing incidence of kidney stones in children evaluated in the emergency department

DJ Sas, TC Hulsey, IF Shatat, JK Orak - The Journal of pediatrics, 2010 - Elsevier
Objective To test the hypothesis that there is an increase in the incidence of childhood
nephrolithiasis in the state of South Carolina. Study design We analyzed demographic data …