PubMed Latest
This section contains a feed from PubMed with recent papers on 'ciliopathy', with hyperlinked titles.
When you are on the PubMed site, you can search using any cilia and ciliopathy-related keywords or terms.
Some of the papers are free to read; others require subscriptions.
PubMed RSS feed: Latest results from PubMed
-
A novel homozygous mutation in the DNAAF3 gene leads to severe asthenozoospermia and teratospermia
17 September 2024Primary ciliary dyskinesia (PCD) is an autosomal recessive genetic disorder characterized by ultrastructural defects in the cilia or flagella of cells, causing respiratory abnormalities, sinusitis, visceral transposition, and male infertility. DNAAF3 plays an important role in the assembly and transportation of axonemal dynein complexes in cilia or flagella and has been shown to be associated with PCD. To date, only two cases of PCD with infertility associated with DNAAF3 mutations have been...
-
The primary cilium of cholinergic neurons may be a linchpin in the progression of Parkinson's Disease
17 September 2024No abstract
-
Amplified centrosomes-more than just a threat
16 September 2024Centrosomes are major organizing components of the tubulin-based cytoskeleton. In recent years, we have gained extensive knowledge about their structure, biogenesis, and function from single cells, cell-cell interactions to tissue homeostasis, including their role in human diseases. Centrosome abnormalities are linked to, among others primary microcephaly, birth defects, ciliopathies, and tumorigenesis. Centrosome amplification, a state where two or more centrosomes are present in the G1 phase...
-
Perturbed cell cycle phase-dependent positioning and nuclear migration of retinal progenitors along the apico-basal axis underlie global retinal disorganization in the LCA8-like mouse model
16 September 2024Combined removal of Crb1 and Crb2 from the developing optic vesicle evokes cellular and laminar disorganization by disrupting the apical cell-cell adhesion in developing retinal epithelium. As a result, at postnatal stages, affected mouse retinas show temporarily thickened, coarsely laminated retinas in addition to functional deficits, including a severely abnormal electroretinogram and decreased visual acuity. These features are reminiscent of Leber congenital amaurosis 8, which is caused in...
-
Investigating genotype-phenotype correlations in primary ciliary dyskinesia: a sibling cohort study
16 September 2024INTRODUCTION: Primary Ciliary Dyskinesia (PCD) is a complex mostly autosomal recessive disorder characterized by dysfunction of primary motor cilia, leading to multisystemic manifestations, primarily affecting the rhino-sinopulmonary system. Despite advancements in understanding its pathogenesis, genotype-phenotype correlations are not fully elucidated. Utilizing sibling cohorts offers a promising approach to investigate these genotype-phenotype correlations in PCD.