Results 61 to 70 of about 1,464 (120)
Acta Ophthalmologica, Volume 103, Issue 3, Page 327-338, May 2025.Abstract Purpose This study aimed to characterize clinical and genetic findings in a Swedish cohort with inherited retinal disease (IRD), identify predictors for achieving a molecular diagnosis and evaluate the effects of increased genetic testing over time.
Karl De Geer +4 more
wiley +1 more source
Kidney International Reports, 2020 Bardet–Biedl syndrome (BBS) is a rare pleiotropic inherited disorder known as a ciliopathy. Kidney disease is a cardinal clinical feature; however, it is one of the less investigated traits. This study is a comprehensive analysis of the literature aiming
Emanuela Marchese +4 more
doaj
International Journal of Dental Hygiene, Volume 23, Issue 2, Page 362-373, May 2025.ABSTRACT Objectives Children and young patients with chronic kidney disease (CKD) are at persistent risk of gingivitis despite usual preventive measures. This clinical study aimed to determine the efficacy of an intensive oral preventive programme (OPP) for young patients with CKD in treating plaque‐induced gingivitis modified by systemic factors ...
Karolin C. Höfer +7 more
wiley +1 more source
Frontiers in Pediatrics, 2014 The evaluation and treatment of the heterogeneous group of pediatric kidney diseases poses a challenging field in pediatrics. Many of the pediatric disorders resulting in severe renal affection are exceedingly rare and therapeutic approaches have ...
Max Christoph Liebau +1 more
doaj +1 more source
Cilia, ciliopathies and hedgehog-related forebrain developmental disorders
Neurobiology of Disease, 2021 Development of the forebrain critically depends on the Sonic Hedgehog (Shh) signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in holoprosencephaly, a condition defined as a defect in the formation of midline ...
Abraham Andreu-Cervera +2 more
doaj
Identification of ciliary and ciliopathy genes in Caenorhabditis elegans through comparative genomics. [PDF]
, 2006 Nansheng Chen +18 more
openalex +1 more source
Making sense of cilia in disease: The human ciliopathies [PDF]
, 2009 Kate Baker, Philip L. Beales
openalex +1 more source
MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome [PDF]
, 2009 Meral Gunay‐Aygun +14 more
openalex +1 more source
Dzip1 and Fam92 form a ciliary transition zone complex with cell type specific roles in Drosophila
eLife, 2019 Cilia and flagella are conserved eukaryotic organelles essential for cellular signaling and motility. Cilia dysfunctions cause life-threatening ciliopathies, many of which are due to defects in the transition zone (TZ), a complex structure of the ciliary
Jean-André Lapart +10 more
doaj +1 more source
RFX3 governs growth and beating efficiency of motile cilia in mouse and controls the expression of genes involved in human ciliopathies [PDF]
, 2009 Loubna El Zein +7 more
openalex +1 more source