The term “thin basement membrane”(TBM) refers to a glomerular disorder characterized by
diffuse uniform thinning of the glomerular basement membrane (GBM) on electron …

Polycystic kidney diseases are a group of monogenically inherited disorders characterized
by cyst development in the kidney with defects in primary cilia function central to …

Poly (ADP-ribose) polymerase-1 (PARP1) binds DNA lesions to catalyse poly (ADP-ribosyl)
ation (PARylation) using NAD+ as a substrate. PARP1 plays multiple roles in cellular …

While autosomal dominant polycystic kidney disease (ADPKD) is a dichotomous diagnosis,
substantial variability in disease severity exists. Identification of inherited risk through family …

Genetic testing in nephrology is becoming increasingly important to diagnose patients and
to provide appropriate care. This is especially true for Autosomal Dominant Polycystic …

ABSTRACT Introduction Scalp-Ear-Nipple syndrome is caused by pathogenic KCTD1
variants and characterised by a scalp defect, prominent ears, and rudimentary breasts. We …

Autosomal dominant polycystic kidney disease (ADPKD) is widely recognized as the most
common single-gene cause of progressive CKD. Genetic investigation of cohorts with …

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in
polycystin genes, Pkd1 and Pkd2, but the underlying pathogenic mechanisms are poorly …

Background The vestibular schwannoma (VS) secretome can initiate monocyte recruitment
and macrophage polarization to M1 (proinflammatory) and/or M2 (protumorigenic) …

Mutations in COL4A3-A5 cause a spectrum of glomerular disorders, including thin basement
membrane nephropathy (TBMN) and Alport syndrome (AS). The wide application of next …