Multi-Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family. [PDF]
Mol Genet Genomic MedAljeaid D +4 more
europepmc +1 more source
Retinal Degeneration and Visual Outcomes in Patients With Bardet-Biedl Syndrome: Genotypic Influences From a Caribbean Cohort. [PDF]
CureusVázquez-Folch SJ +3 more
europepmc +1 more source
Physical and functional interaction of the ciliopathy proteins Lrrc56 and Odad3 control deployment of axonemal dyneins in vertebrate multiciliated cells. [PDF]
Dis Model MechReyes-Nava NG +7 more
europepmc +1 more source
Cilium-by-cilium: unveiling hidden proteomic diversity and the molecular basis of ciliopathies. [PDF]
Signal Transduct Target TherChiong M, Li H, Lavandero S.
europepmc +1 more source
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity. [PDF]
NPJ Genom MedSangermano R +14 more
europepmc +1 more source
Sudden acquired retinal degeneration syndrome may be an acquired primary ciliopathy, phenotypically similar to human Alström and Bardet-Biedl syndromes. [PDF]
Front Vet SciToler S, Abrams K, Ward D.
europepmc +1 more source
Targeting E3 Ubiquitin Ligases and Deubiquitinases in Ciliopathy and Cancer
International Journal of Molecular Sciences, 2020 Cilia are antenna-like structures present in many vertebrate cells. These organelles detect extracellular cues, transduce signals into the cell, and play an essential role in ensuring correct cell proliferation, migration, and differentiation in a ...
Takashi Shiromizu +2 more
exaly +3 more sources
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy [PDF]
Pediatric Nephrology, 2018 Background: Nephronophthisis is an autosomal recessive ciliopathy and important cause of end-stage renal disease (ESRD) in children and young adults. Diagnostic delay is frequent.
Marijn F Stokman +2 more
exaly +2 more sources