نتایج جستجو برای: ofd1
تعداد نتایج: 97 فیلتر نتایج به سال:
Centrioles are intriguing cylindrical organelles composed of triplet microtubules. Proteomic data suggest that a large number of proteins besides tubulin are necessary for the formation and maintenance of a centriole's complex structure. Expansion of the preexisting centriole proteome from the green alga Chlamydomonas reinhardtii revealed additional human disease genes, emphasizing the signific...
hemizygous male mutants die by E12 and display neural tube defects, exencephaly and left–right asymmetry. Analysis of heterozygous female mutants revealed a severe brain phenotype including expansion of the ventral telencephalon in the dorsal part of the brain, reduction of the cortex and defects in the formation of dorsomedial telencephalic structures from E12.5. Morphological staining of muta...
Recessive mutations in the SDCCAG8 gene cause a nephronophthisis-related ciliopathy with Bardet-Biedl syndrome-like features in humans. Our previous characterization of the orthologous Sdccag8gt/gt mouse model recapitulated the retinal-renal disease phenotypes and identified impaired DNA damage response signaling as an underlying disease mechanism in the kidney. However, several other phenotypi...
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound
The genetic etiology of non-aneuploid fetal structural abnormalities is typically investigated by karyotyping and array-based detection of microscopically detectable rearrangements, and submicroscopic copy-number variants (CNVs), which collectively yield a pathogenic finding in up to 10% of cases. We propose that exome sequencing may substantially increase the identification of underlying etiol...
Primary cilia are hair-like organelles and play crucial roles in vertebrate development, organogenesis, health, and many genetic disorders. A primary cilium is a mechano-sensory organelle that responds to mechanical stimuli in the micro-environment. A cilium is also a chemosensor that senses chemical signals surrounding a cell. The overall function of a cilium is therefore to act as a communica...
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