MUC1 is a transmembrane mucin involved in carcinogenesis and cell signaling. Functional
MUC1 variants are associated with multiple metabolic and biochemical traits. This study …

Chronic kidney disease (CKD) is associated with significant morbidity and mortality
worldwide. In recent years, our understanding of genetic causes of CKD has expanded …

Purpose While the prognosis of multiple myeloma (MM) has significantly improved over the
last decade because of new treatment options, it remains incurable. Aetiological …

Renal ciliopathies are a common cause of kidney failure in children and adults, and this
study reviewed their ocular associations. Genes affected in renal ciliopathies were identified …

In the kidney, a set of proteins expressed in the epithelial cells of the thick ascending loop of
Henle and the distal convoluted tubule directly or indirectly play important roles in the …

Hereditary chronic kidney disease (CKD) appears to be more frequent than the clinical
perception. Exome sequencing (ES) studies in CKD cohorts could identify pathogenic …

Kidneys are pivotal organ in iron redistribution and can be severely damaged in the course
of hemolysis. In our previous studies, we observed that induction of hypertension with …

Autosomal dominant tubulointerstitial kidney disease (ADTKD), a rare genetic disorder
characterised by progressive chronic kidney disease, is caused by mutations in different …

Introduction: Patients with ADTKD-MUC1 have one allele producing normal mucin-1
(MUC1) and one allele producing mutant MUC1, which remains intracellular. We …

Genetic or hereditary kidney disease stands as a pivotal cause of chronic kidney disease
(CKD). The proliferation and widespread utilization of DNA testing in clinical settings have …