The primary cilium is a highly specialized and evolutionary conserved organelle in
eukaryotes that plays a significant role in cell signaling and trafficking. Over the past few …

Background The prevalence of diabetic microvascular diseases has increased significantly
worldwide, the most common of which are diabetic nephropathy (DN) and diabetic …

Visual electrophysiology is a valuable tool for evaluating the visual system in various
systemic syndromes. This review highlights its clinical application in a selection of …

Biallelic deletions in the NPHP1 gene are the most frequent molecular defect of
nephronophthisis, a kidney ciliopathy and leading cause of hereditary end-stage kidney …

NPHP1-related ciliopathies are a collection of three overlap** disorders, Juvenile
nephronophthisis-1 (OMIM 256100), Joubert syndrome-4 (OMIM 609583), and Senior …

Purpose This article presents a review of the main causes of inherited dual sensory
impairment (DSI) with an emphasis on the multidisciplinary approach. Methods A narrative …

Background The sodium channel and clathrin linker 1 gene (SCLT1) has been involved in
the pathogenesis of various ciliopathy disorders such as Bardet-Biedl syndrome …

Introdução: A retinopatia pigmentar setorial (sRP) é uma forma rara, atípica e menos severa
de distrofia de bastonetes-cones. Apesar de tipicamente associada ao gene RHO, o espetro …

Purpose: To describe in detail the structural and functional phenotypes of a patient with cone–
rod dystrophy associated with a full deletion of the NPHP1 gene. Methods: A 30-year-old …

ABSTRACT/RESUMO Inherited retinal dystrophies/degenerations (IRDs) are a group of
clinically and genetically heterogenous rare eye diseases affecting 5–10 million individuals …