Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4068338 | PMC |
| http://dx.doi.org/10.1007/s13353-013-0136-2 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The C-terminus of CFAP410 forms a tetrameric helical bundle that is essential for its localization to the basal body.
Open Biol
September 2024
Max Perutz Labs, Vienna Biocenter, Medical University of Vienna, Vienna 1030, Austria.
Cilia are antenna-like organelles protruding from the surface of many cell types in the human body. Defects in ciliary structure or function often lead to diseases that are collectively called ciliopathies. Cilia and flagella-associated protein 410 (CFAP410) localizes at the basal body of cilia/flagella and plays essential roles in ciliogenesis, neuronal development and DNA damage repair.
View Article and Find Full Text PDFFunctional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases.
Life Sci Alliance
July 2023
MRC Protein Phosphorylation and Ubiquitylation Unit, Wellcome Trust Biocentre, University of Dundee, Dundee, UK
The NEK1 kinase controls ciliogenesis, mitosis, and DNA repair, and mutations cause human diseases including axial spondylometaphyseal dysplasia and amyotrophic lateral sclerosis. mutations cause a similar pattern of human diseases, suggesting close functional links with Here, we report that endogenous NEK1 and C21ORF2 form a tight complex in human cells. A C21ORF2 interaction domain "CID" at the C-terminus of NEK1 is necessary for its association with C21ORF2 in cells, and pathogenic mutations in this region disrupt the complex.
View Article and Find Full Text PDFA case of siblings with juvenile retinitis pigmentosa associated with gene variants.
Ophthalmic Genet
October 2023
Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Background: Axial spondylometaphyseal dysplasia(axial SMD) is associated with early-onset retinal dystrophy and various skeletal dysplasias of varying severity. is the causative gene for short rib polydactyly syndrome and axial SMD. Here, we report a case of siblings with juvenile retinitis pigmentosa (RP) and variants not associated with systemic disorders.
View Article and Find Full Text PDFHomozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
Am J Med Genet A
June 2017
Translational Genomics Group, Institute of Health and Biomedical Innovation (IHBI), Queensland University of Technology (QUT) at the Translational Research Institute, Brisbane, Queensland, Australia.
We previously reported exome sequencing in a short-rib thoracic dystrophy (SRTD) cohort, in whom recessive mutations were identified in SRTD-associated genes in 10 of 11 cases. A heterozygous stop mutation in the known SRTD gene WDR60 was identified in the remaining case; no novel candidate gene/s were suggested by homozygous/compound heterozygous analysis. This case was thus considered unsolved.
View Article and Find Full Text PDFAxial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
J Hum Genet
April 2017
Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
Axial spondylometaphyseal dysplasia (axial SMD) is a unique form of SMD characterized by dysplasia of axial skeleton and retinal dystrophy. Recently, C21orf2 has been identified as the first disease gene for axial SMD; however, the presence of genetic heterogeneity is known. In this study, we identified NEK1 as the second disease gene for axial SMD.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!