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 …

[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 …

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 …

[PDF][PDF] Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis

H Lemoine, L Raud, F Foulquier, JA Sayer… - The American Journal of …, 2022 - cell.com
Disorders of the autosomal dominant polycystic kidney disease (ADPKD) spectrum are
characterized by the development of kidney cysts and progressive kidney function decline …

[HTML][HTML] Chronic kidney disease: strategies to retard progression

MT Yan, CT Chao, SH Lin - International journal of molecular sciences, 2021 - mdpi.com
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 …

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 …

[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 …

[HTML][HTML] Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1

E Olinger, P Hofmann, K Kidd, I Dufour, H Belge… - Kidney international, 2020 - Elsevier
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 …

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 …

[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 …