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 …
affecting approximately 10% of adults worldwide, and the incidence of stone disease is …
[HTML][HTML] Update on the epidemiology, genetics, and therapeutic options of hyperuricemia
L Li, Y Zhang, C Zeng - American journal of translational research, 2020 - ncbi.nlm.nih.gov
Hyperuricemia may occur when there is an excess of uric acid in the blood. Hyperuricemia
may result from increased production or decreased excretion of uric acid. Elevated uric acid …
may result from increased production or decreased excretion of uric acid. Elevated uric acid …
A comprehensive map of mRNAs and their isoforms across all 14 renal tubule segments of mouse
L Chen, CL Chou, MA Knepper - Journal of the American Society …, 2021 - journals.lww.com
Background The repertoire of protein expression along the renal tubule depends both on
regulation of transcription and regulation of alternative splicing that can generate multiple …
regulation of transcription and regulation of alternative splicing that can generate multiple …
[PDF][PDF] Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis
Disorders of the autosomal dominant polycystic kidney disease (ADPKD) spectrum are
characterized by the development of kidney cysts and progressive kidney function decline …
characterized by the development of kidney cysts and progressive kidney function decline …
Chronic kidney disease: strategies to retard progression
Chronic kidney disease (CKD), defined as the presence of irreversible structural or
functional kidney damages, increases the risk of poor outcomes due to its association with …
functional kidney damages, increases the risk of poor outcomes due to its association with …
Uromodulin: roles in health and disease
C Schaeffer, O Devuyst… - Annual review of …, 2021 - annualreviews.org
Uromodulin, a protein exclusively produced by the kidney, is the most abundant urinary
protein in physiological conditions. Already described several decades ago, uromodulin has …
protein in physiological conditions. Already described several decades ago, uromodulin has …
[PDF][PDF] Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
SR Senum, YSM Li, KA Benson, G Joli… - The American Journal of …, 2022 - cell.com
Autosomal dominant polycystic kidney disease (ADPKD), characterized by progressive cyst
formation/expansion, results in enlarged kidneys and often end stage kidney disease …
formation/expansion, results in enlarged kidneys and often end stage kidney disease …
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized
cause of end-stage kidney disease, primarily due to mutations in UMOD and MUC1. The …
cause of end-stage kidney disease, primarily due to mutations in UMOD and MUC1. The …
The genetic basis of congenital anomalies of the kidney and urinary tract
M Kagan, O Pleniceanu, A Vivante - Pediatric Nephrology, 2022 - Springer
During the past decades, remarkable progress has been made in our understanding of the
molecular basis of kidney diseases, as well as in the ability to pinpoint disease-causing …
molecular basis of kidney diseases, as well as in the ability to pinpoint disease-causing …
[PDF][PDF] Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations
J Devane, E Ott, EG Olinger, D Epting, E Decker… - The American Journal of …, 2022 - cell.com
Organ fibrosis is a shared endpoint of many diseases, yet underlying mechanisms are not
well understood. Several pathways governed by the primary cilium, a sensory antenna …
well understood. Several pathways governed by the primary cilium, a sensory antenna …