Centrosome-related Service for Ciliopathies

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Cilia are membrane-bound organelle in most eukaryotic cells, which are comprised of microtubule organized from centrosome. Ciliopathies are genetic disorders affects the cellular cilia or the cilia anchoring structures or functions. CD BioSciences provides centrosome-related services in ciliopathies with our advanced technology and experienced experts for meeting our global customer's demands in centrosome research and the therapeutic development of ciliopathies.

Introduction into Cilia and Ciliopathies

Centrosomes are the main microtubule-organizing centers in animal cells, indispensable for cell division and the building of a wide range of cilia, which include sensory and motile cilia. The mother centriole transfer into basal body, which organizing the microtubule proteins into cilia. Cilia are membrane-bound organelle in most eukaryotic cells. There are two major types of cilia: motile and non-motile. And most non-motile cilia are called primary cilia or sensory cilia that serve as the sensory organelles that play important role in transducing mechanical and extracellular signals, regulating organogenesis, planar polarity, proliferation, DNA damage response and autophagy. The primary cilia are comprised of microtubule bundles organized into an axoneme and anchored by a mature centriole or basal body.

Ciliopathies that encompass most human organ systems (Reiter JF, et al., 2017)

Pleiotropic genetic disorders caused by defects in ciliary function or structure are termed ciliopathies, of which the clinical features include characteristically, retinal degeneration, renal disease and cerebral anomalies.

Centrosomal Genes and Related Ciliopathies

Gene	Diseases and Clinical Features
*BBS4*	retinal dystrophy, obesity, polydactyly, renal malformation, hypogenitalism and male infertiliy
*CEP290*	retinal dystrophy, obesity, polydactyly, cognitive impairments, hypogenitalism and renal malformation
	cerebellar malfunction, ataxia, retinal degeneration and nephronepthisis
	occipital encephalocele (neural tube defect), polydactyly and dysplastic kidneys
	retinal dystrophy and nephronepthisis
*OFD1*	male embryonic lethality; abnormalities of face, oral cavity and digits, polycystic kidney disease, mental retardation and macrocephaly
	mental retardation, recurrent infections, developmental delay, cerebellar abnormalities and retinitis pigmentosa
	perinatal male lethality, macrocephaly, craniofacial anomalies and respiratory problems

Our Services

The functional disorders or loss of cilia cause massive diseases, which distribute in almost all parts of human body. With the experienced experts and advanced technologies, CD BioSciences offers centrosome-related service for ciliopathies including but not limited as follows.

Agenesis of the corpus callosum
Caroli disease
Dandy–Walker malformation
Intellectual disability
Situs inversus

Posterior encephalocele
Polycystic kidneys
Polycystic ovary syndrome
Postaxial polydactyly

Liver disease
Multiple subcutaneous cysts
Retinitis pigmentosa
Renal function impairment

The services we provide include but not limited as follows.

Pathologic Research of Ciliopathies

Identification of Pathogenic Centrosomal Genes
Identification of Centrosome Involved Pathways
Detection of Centrosome Abnormalities in Ciliopathies

Therapeutics Development of Ciliopathies

Why Choose Us

Professional Team

Comprehensive Platform

High Efficiency

One-stop Service

With skilled and experienced genomics and cytology experts, state-of-the-art equipment and advanced technology, CD BioSciences offers customer all over the word services related to fields of centrosomal research. Our one-stop service program is your best assistant to accelerate you process of centrosomal research. Please feel free to contact us and get started with our high-quality services.

Reference

Reiter JF, Leroux MR. Genes and molecular pathways underpinning ciliopathies. Nat Rev Mol Cell Biol. 2017 Sep;18(9):533-547.

Our services are for research use only and not for any clinical use.