The growing accessibility and falling costs of genetic sequencing techniques has expanded
the utilization of genetic testing in clinical practice. For living kidney donation, genetic …

Uromodulin, also known as Tamm-Horsfall protein, represents the predominant urinary
protein in healthy individuals. Over the years, studies have revealed compelling …

Missense mutations in the uromodulin (UMOD) gene cause autosomal dominant
tubulointerstitial kidney disease (ADTKD), one of the most common monogenic kidney …

Abstract Background and Aims Autosomal dominant polycystic liver and kidney disease is a
spectrum of hereditary diseases, which display disturbed function of primary cilia leading to …

Renal fibrosis is the final stage of most progressive kidney diseases. Chronic kidney disease
(CKD) is associated with high comorbidity and mortality. Thus, preventing fibrosis and …

Background Patients with heterozygous inactivating mutations in DNAJB11 manifest with
cystic but not enlarged kidneys and renal failure in adulthood. Pathogenesis is proposed to …

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a clinical entity defined by
interstitial fibrosis with tubular damage, bland urinalysis and progressive kidney disease …

To elucidate the redundancy in the components for the targeting of membrane proteins to
the endoplasmic reticulum (ER) and/or their insertion into the ER membrane under …

Kidney disease is a leading cause of death worldwide. Currently, the diagnosis of kidney
diseases and the grading of their severity are mainly based on clinical features, which do not …

Cystic kidney diseases, when broadly defined, have a wide differential diagnosis extending
from recessive diseases with a prenatal or pediatric diagnosis, to the most common …