Biological functions of fucose in mammals

M Schneider, E Al-Shareffi, RS Haltiwanger - Glycobiology, 2017 - academic.oup.com
Fucose is a 6-deoxy hexose in the l-configuration found in a large variety of different
organisms. In mammals, fucose is incorporated into N-glycans, O-glycans and glycolipids by …

Autosomal dominant tubulointerstitial kidney disease

O Devuyst, E Olinger, S Weber, KU Eckardt… - Nature Reviews …, 2019 - nature.com
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a recently defined entity
that includes rare kidney diseases characterized by tubular damage and interstitial fibrosis …

Uromodulin: from physiology to rare and complex kidney disorders

O Devuyst, E Olinger, L Rampoldi - Nature Reviews Nephrology, 2017 - nature.com
Uromodulin (also known as Tamm-Horsfall protein) is exclusively produced in the kidney
and is the most abundant protein in normal urine. The function of uromodulin remains …

Multiple loci associated with indices of renal function and chronic kidney disease

A Köttgen, NL Glazer, A Dehghan, SJ Hwang, R Katz… - Nature …, 2009 - nature.com
Chronic kidney disease (CKD) has a heritable component and is an important global public
health problem because of its high prevalence and morbidity. We conducted genome-wide …

Genome-Wide Association Study of Blood Pressure Extremes Identifies Variant near UMOD Associated with Hypertension

S Padmanabhan, O Melander, T Johnson… - PLoS …, 2010 - journals.plos.org
Hypertension is a heritable and major contributor to the global burden of disease. The sum
of rare and common genetic variants robustly identified so far explain only 1%–2% of the …

Plasma uromodulin correlates with kidney function and identifies early stages in chronic kidney disease patients

D Steubl, M Block, V Herbst, WA Nockher… - Medicine, 2016 - journals.lww.com
Uromodulin, released from tubular cells of the ascending limb into the blood, may be
associated with kidney function. This work studies the relevance of plasma uromodulin as a …

[HTML][HTML] Unveiling the hidden power of uromodulin: a promising potential biomarker for kidney diseases

R Thielemans, R Speeckaert, C Delrue, S De Bruyne… - Diagnostics, 2023 - mdpi.com
Uromodulin, also known as Tamm-Horsfall protein, represents the predominant urinary
protein in healthy individuals. Over the years, studies have revealed compelling …

Molecular physiology of urate transport

MA Hediger, RJ Johnson, H Miyazaki… - Physiology, 2005 - journals.physiology.org
Humans excrete uric acid as the final breakdown product of unwanted purine nucleotides.
Urate scavenges potential harmful radicals in our body. However, in conjunction with …

[HTML][HTML] The rediscovery of uromodulin (Tamm–Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease

L Rampoldi, F Scolari, A Amoroso, GM Ghiggeri… - Kidney international, 2011 - Elsevier
Uromodulin (Tamm–Horsfall protein) is the most abundant protein excreted in the urine
under physiological conditions. It is exclusively produced in the kidney and secreted into the …

[HTML][HTML] Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—a KDIGO consensus report

KU Eckardt, SL Alper, C Antignac, AJ Bleyer… - Kidney international, 2015 - Elsevier
Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the
genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN) …