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Skeletal ciliopathy: pathogenesis and related signaling pathways
Cilia are tiny organelles with conserved structures and components in eukaryotic cells. Ciliopathy is a set of diseases resulting from cilium...
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IK is essentially involved in ciliogenesis as an upstream regulator of oral-facial-digital syndrome ciliopathy gene, ofd1
BackgroundThe cilia are microtubule-based organelles that protrude from the cell surface. Abnormalities in cilia result in various ciliopathies,...
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Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development
BackgroundJoubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlap** phenotypes. There...
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Appearing and disappearing acts of cilia
The past few decades have seen a rise in research on vertebrate cilia and ciliopathy, with interesting collaborations between basic and clinical...
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Regulation of ciliary homeostasis by intraflagellar transport-independent kinesins
Cilia are highly conserved eukaryotic organelles that protrude from the cell surface and are involved in sensory perception, motility, and signaling....
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Wdpcp regulates cellular proliferation and differentiation in the develo** limb via hedgehog signaling
BackgroundMice with a loss of function mutation in Wdpcp were described previously to display severe birth defects in the develo** heart, neural...
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Thm2 interacts with paralog, Thm1, and sensitizes to Hedgehog signaling in postnatal skeletogenesis
Mutations in the intraflagellar transport-A (IFT-A) gene, THM1 , have been identified in skeletal ciliopathies. Here, we report a genetic interaction...
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CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome
BackgroundThe CEP104 gene (OMIM: 616,690) encodes the centrosome protein 104 ( CEP104 ) that is involved in cilia function. Pathogenic variants in...
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Three-dimensional microCT imaging of mouse heart development from early post-implantation to late fetal stages
Comprehensive detailed characterization of new mouse models can be challenging due to the individual focus involved in develo** these models. Often...
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Genome-wide screening reveals the genetic basis of mammalian embryonic eye development
BackgroundMicrophthalmia, anophthalmia, and coloboma (MAC) spectrum disease encompasses a group of eye malformations which play a role in childhood...
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Primary cilia suppress Ripk3-mediated necroptosis
Cilia are sensory organelles that project from the surface of almost all cells. Nephronophthisis (NPH) and NPH-related ciliopathies are degenerative...
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Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families
BackgroundBardet-Biedl Syndrome (BBS) is a rare (1:13,500-1-160,000) heterogeneous congenital disorder, characterized by postaxial polydactyly,...
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Moonlighting of mitotic regulators in cilium disassembly
Correct timing of cellular processes is essential during embryological development and to maintain the balance between healthy proliferation and...
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Zebrafish: an important model for understanding scoliosis
Scoliosis is a common spinal deformity that considerably affects the physical and psychological health of patients. Studies have shown that genetic...
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Genome Editing in Organoid to Improve Understanding of Human Disease
Introduction: The CRISPR/Cas9 system has been widely used in genome editing. In terms of application, CRISPR-based genome editing exhibits more...
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Mdm1 ablation results in retinal degeneration by specific intraflagellar transport defects of photoreceptor cells
Mouse double minute 1 ( Mdm1 ) might be involved in the function and structure of centrioles and age-related retinal degeneration. However, the...
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Pharmacological Regulation of Primary Cilium Formation Affects the Mechanosensitivity of Osteocytes
Primary cilia are responsible for sensing mechanical loading in osteocytes. However, the underlying working mechanism of cilia remains elusive. An...
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Induced Dimerization Tools to Deplete Specific Phosphatidylinositol Phosphates
Chemical dimerization systems have been used to drive acute depletion of polyphosphoinsitides (PPIns). They do so by inducing subcellular...
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Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum
Joubert syndrome (JS) is a rare inherited neurodevelopmental condition characterized by hypotonia, ataxia, developmental delay, abnormal eye...
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GPRC5C regulates the composition of cilia in the olfactory system
BackgroundOlfactory sensory neurons detect odourants via multiple long cilia that protrude from their dendritic endings. The G protein-coupled...
