Cilia: Populations of thin, motile processes found covering the surface of ciliates (CILIOPHORA) or the free surface of the cells making up ciliated EPITHELIUM. Each cilium arises from a basic granule in the superficial layer of CYTOPLASM. The movement of cilia propels ciliates through the liquid in which they live. The movement of cilia on a ciliated epithelium serves to propel a surface layer of mucus or fluid. (King & Stansfield, A Dictionary of Genetics, 4th ed)Photoreceptor Connecting Cilium: The bridge between the inner and the outer segments of a retinal rod or a cone photoreceptor cell. Through it, proteins synthesized in the inner segment are transported to the outer segment.Axoneme: A bundle of MICROTUBULES and MICROTUBULE-ASSOCIATED PROTEINS forming the core of each CILIUM or FLAGELLUM. In most eukaryotic cilia or flagella, an axoneme shaft has 20 microtubules arranged in nine doublets and two singlets.Ciliary Motility Disorders: Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.Kidney Diseases, Cystic: A heterogeneous group of hereditary and acquired disorders in which the KIDNEY contains one or more CYSTS unilaterally or bilaterally (KIDNEY, CYSTIC).Centrioles: Self-replicating, short, fibrous, rod-shaped organelles. Each centriole is a short cylinder containing nine pairs of peripheral microtubules, arranged so as to form the wall of the cylinder.Kartagener Syndrome: An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts.Polycystic Kidney Diseases: Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance.Bardet-Biedl Syndrome: An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)TRPP Cation Channels: A subgroup of TRP cation channels that are widely expressed in various cell types. Defects are associated with POLYCYSTIC KIDNEY DISEASES.Flagella: A whiplike motility appendage present on the surface cells. Prokaryote flagella are composed of a protein called FLAGELLIN. Bacteria can have a single flagellum, a tuft at one pole, or multiple flagella covering the entire surface. In eukaryotes, flagella are threadlike protoplasmic extensions used to propel flagellates and sperm. Flagella have the same basic structure as CILIA but are longer in proportion to the cell bearing them and present in much smaller numbers. (From King & Stansfield, A Dictionary of Genetics, 4th ed)Hedgehog Proteins: A family of intercellular signaling proteins that play and important role in regulating the development of many TISSUES and organs. Their name derives from the observation of a hedgehog-like appearance in DROSOPHILA embryos with genetic mutations that block their action.Dyneins: A family of multisubunit cytoskeletal motor proteins that use the energy of ATP hydrolysis to power a variety of cellular functions. Dyneins fall into two major classes based upon structural and functional criteria.Ependyma: A thin membrane that lines the CEREBRAL VENTRICLES and the central canal of the SPINAL CORD.Axonemal Dyneins: Dyneins that are responsible for ciliary and flagellar beating.Kinesin: A microtubule-associated mechanical adenosine triphosphatase, that uses the energy of ATP hydrolysis to move organelles along microtubules toward the plus end of the microtubule. The protein is found in squid axoplasm, optic lobes, and in bovine brain. Bovine kinesin is a heterotetramer composed of two heavy (120 kDa) and two light (62 kDa) chains. EC 3.6.1.-.Paramecium: A genus of ciliate protozoa that is often large enough to be seen by the naked eye. Paramecia are commonly used in genetic, cytological, and other research.Olfactory Mucosa: That portion of the nasal mucosa containing the sensory nerve endings for SMELL, located at the dome of each NASAL CAVITY. The yellow-brownish olfactory epithelium consists of OLFACTORY RECEPTOR NEURONS; brush cells; STEM CELLS; and the associated olfactory glands.Olfactory Receptor Neurons: Neurons in the OLFACTORY EPITHELIUM with proteins (RECEPTORS, ODORANT) that bind, and thus detect, odorants. These neurons send their DENDRITES to the surface of the epithelium with the odorant receptors residing in the apical non-motile cilia. Their unmyelinated AXONS synapse in the OLFACTORY BULB of the BRAIN.Tetrahymena pyriformis: A species of ciliate protozoa used extensively in genetic research.Situs Inversus: A congenital abnormality in which organs in the THORAX and the ABDOMEN are opposite to their normal positions (situs solitus) due to lateral transposition. Normally the STOMACH and SPLEEN are on the left, LIVER on the right, the three-lobed right lung is on the right, and the two-lobed left lung on the left. Situs inversus has a familial pattern and has been associated with a number of genes related to microtubule-associated proteins.Centrosome: The cell center, consisting of a pair of CENTRIOLES surrounded by a cloud of amorphous material called the pericentriolar region. During interphase, the centrosome nucleates microtubule outgrowth. The centrosome duplicates and, during mitosis, separates to form the two poles of the mitotic spindle (MITOTIC SPINDLE APPARATUS).Zebrafish: An exotic species of the family CYPRINIDAE, originally from Asia, that has been introduced in North America. They are used in embryological studies and to study the effects of certain chemicals on development.Microtubules: Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.Mechanotransduction, Cellular: The process by which cells convert mechanical stimuli into a chemical response. It can occur in both cells specialized for sensing mechanical cues such as MECHANORECEPTORS, and in parenchymal cells whose primary function is not mechanosensory.Body Patterning: The processes occurring in early development that direct morphogenesis. They specify the body plan ensuring that cells will proceed to differentiate, grow, and diversify in size and shape at the correct relative positions. Included are axial patterning, segmentation, compartment specification, limb position, organ boundary patterning, blood vessel patterning, etc.Microscopy, Electron, Scanning: Microscopy in which the object is examined directly by an electron beam scanning the specimen point-by-point. The image is constructed by detecting the products of specimen interactions that are projected above the plane of the sample, such as backscattered electrons. Although SCANNING TRANSMISSION ELECTRON MICROSCOPY also scans the specimen point by point with the electron beam, the image is constructed by detecting the electrons, or their interaction products that are transmitted through the sample plane, so that is a form of TRANSMISSION ELECTRON MICROSCOPY.Tubulin: A microtubule subunit protein found in large quantities in mammalian brain. It has also been isolated from SPERM FLAGELLUM; CILIA; and other sources. Structurally, the protein is a dimer with a molecular weight of approximately 120,000 and a sedimentation coefficient of 5.8S. It binds to COLCHICINE; VINCRISTINE; and VINBLASTINE.Protein Transport: The process of moving proteins from one cellular compartment (including extracellular) to another by various sorting and transport mechanisms such as gated transport, protein translocation, and vesicular transport.Rana ridibunda: A species of the family Ranidae which occurs primarily in Europe and is used widely in biomedical research.Signal Transduction: The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.Tetrahymena: A genus of ciliate protozoa commonly used in genetic, cytological, and other research.Caenorhabditis elegans: A species of nematode that is widely used in biological, biochemical, and genetic studies.Caenorhabditis elegans Proteins: Proteins from the nematode species CAENORHABDITIS ELEGANS. The proteins from this species are the subject of scientific interest in the area of multicellular organism MORPHOGENESIS.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.Adenocarcinoma, Clear Cell: An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)Databases, Chemical: Databases devoted to knowledge about specific chemicals.Kidney Neoplasms: Tumors or cancers of the KIDNEY.Carcinoma, Renal Cell: A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma.Radioimmunoprecipitation Assay: Sensitive assay using radiolabeled ANTIGENS to detect specific ANTIBODIES in SERUM. The antigens are allowed to react with the serum and then precipitated using a special reagent such as PROTEIN A sepharose beads. The bound radiolabeled immunoprecipitate is then commonly analyzed by gel electrophoresis.Group II Chaperonins: A subcategory of chaperonins found in ARCHAEA and the CYTOSOL of eukaryotic cells. Group II chaperonins form a barrel-shaped macromolecular structure that is distinct from GROUP I CHAPERONINS in that it does not utilize a separate lid like structure to enclose proteins.Retinal Degeneration: A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)Retina: The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent.Research Support, U.S. Gov't, Non-P.H.S.Research Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov'tReceptors, Odorant: Proteins, usually projecting from the cilia of olfactory receptor neurons, that specifically bind odorant molecules and trigger responses in the neurons. The large number of different odorant receptors appears to arise from several gene families or subfamilies rather than from DNA rearrangement.Research Support, U.S. GovernmentResearch Support, American Recovery and Reinvestment Act
  • A diagnosis of PCD is confirmed by either biallelic mutations in a known PCD gene or a classic PCD ultrastructural ciliary defect observed by transmission electron microscopy (TEM). (dovepress.com)
  • We used cells of human respiratory epithelium after in vitro ciliogenesis to clone cDNA fragments of nine dynein heavy chain genes, one of which had never been identified before. (kuleuven.be)
  • Further, primary cilia on the apical surface of the choroid plexus epithelium contribute to CSF homeostasis by acting as pressure sensors or as chemosensors that regulate CSF production, osmolarity, or CSF transcytosis from the choroid plexus epithelium into the ventricles via a cilia-based receptor and autonomic system of regulation [ 6 - 9 ]. (biomedcentral.com)
  • Primary cilia in the kidney of Tg737 mutant mice are shorter than normal. (rupress.org)
  • b) Cilia length in kidneys of 4-d-old mice. (rupress.org)
  • To investigate CC2D2A function, a team led by Drs. Shobi Veleri and Anand Swaroop at NIH's National Eye Institute (NEI) developed mice lacking the mouse version of the gene, Cc2d2a . (nih.gov)
  • They then infected smelling-impaired mice with the altered virus, delivering the corrected gene to the olfactory neural cells that needed it. (bioquicknews.com)
  • The fact that they were able to treat live mice with a therapy that restored cilia function in one sensory system suggests that similar techniques could be used to treat cilia disorders elsewhere. (bioquicknews.com)
  • Humans and genetically engineered mice lacking functional cilia respond more slowly to physical sensations such as exposure to hot water or a sharp poke with a stick. (innovations-report.com)
  • Haploinsufficiency of the microRNA-processing gene Dgcr8 is responsible for the Drd1 elevation in ependymal cells of 22q11DS mice, and is mediated by reduction of Drd1-targeting microRNAs miR-674-3p and miR-382-3p. (medworm.com)
  • Replenishing miR-674-3p or miR-382-3p in 22q11DS mice rescued the motile cilia beating abnormalities and normalized the ventricular size. (medworm.com)
  • We also find that the conditional mutant mice quickly lose cilia throughout the brain. (bioportfolio.com)
  • By studying knockout mice that do not assemble nodal cilia, evidence was produced to show that they are a vital part of left-right symmetry breaking. (royalsocietypublishing.org)
  • Here we show that glucosidase IIb and Sec63p are required in mice for adequate expression of a functional complex of the polycystic kidney disease gene products, polycystin-1 and polycystin-2. (nih.gov)
  • Here we report findings from a recessive forward genetic screen in fetal mice, showing that cilia and cilia-transduced cell signalling have important roles in the pathogenesis of CHD. (pitt.edu)
  • Here, we identify a significant enrichment of downregulated, cilia-annotated genes in pancreatic islets of diabetes-prone NZO mice as compared with diabetes-resistant B6-ob/ob mice. (vectorbiolabs.com)
  • Islets of nondiabetic mice and humans show a substantial overlap of upregulated cilia genes that are linked to cell-cycle progression. (vectorbiolabs.com)
  • The insulin release in mice with few/defective cilia was also reduced. (innovations-report.com)
  • A, cilia were detached from OE of mice by Ca 2+ /K + shock and further subjected to Na 2 CO 3 washes at alkaline pH. (mcponline.org)
  • We now describe the positional cloning, mutation analysis, and expression of a novel gene that is disrupted in cpk mice. (jci.org)
  • Scientists have restored the sense of smell in mice through gene therapy for the first time -- a hopeful sign for people who can't smell anything from birth or lose it due to disease. (news-medical.net)
  • In the Arl13b deleted mice, the cilia did not extend as much and often could be seen only as red dots. (emory.edu)
  • Researchers funded by the National Institutes of Health have developed a novel mouse model for the vision disorder Leber hereditary optic neuropathy (LHON), and found that they can use gene therapy to improve visual function in the mice. (nih.gov)
  • The cilia (yellow) are clearly evident in the wild-type mice and absent in mice with no GEMC1. (eurekalert.org)
  • Today, the EMBO Journal has published a study on mice by Travis Stracker and his team, in collaboration with Vincenzo Costanzo's laboratory at the FIRC Institute of Molecular Oncology (IFOM) in Milan, in which they reveal a gene candidate for a subtype of human ciliopathy. (eurekalert.org)
  • Specifically, GEMC1-deficient mice produced by Stracker reproduce the symptoms of a rare disease called RGMC (Reduced Generation of Multiple Motile Cilia)--a condition that causes hydrocephaly, severe respiratory infections, and infertility. (eurekalert.org)
  • These results tie into previous research in mice showing that DCDC2 and two other dyslexia genes are involved in cell migration, a process by which nerve cells are moved to their correct location in the brain during embryonic development. (healthcanal.com)
  • Although heterotaxy is a predominantly genetic disease, causal genes remain largely unidentified ( Zaidi and Brueckner, 2017 ). (frontiersin.org)
  • Sensory and signaling pathways are exquisitely organized in primary cilia. (pnas.org)
  • Primary cilia have been linked to signaling pathways involved in cell proliferation, cell motility and cell polarity. (biologists.org)
  • Surprisingly, in cilia-deficient CE, cilia-mediated signaling pathways, including Hh and Wnt pathways, were not affected but the intensity of Notch signaling was severely diminished. (biologists.org)
  • Understanding the multiple functions of cilia will provide important insights into a number of disease states and developmental defects that are associated with abnormal regulation of these pathways. (asnjournals.org)
  • CRISPR-based editing of genes within the brain, using intracranial injection, could feasibly treat FXS without leading to toxicity that could be caused by systematically disrupting neuronal signalling pathways. (genengnews.com)
  • A growing number of biological pathways are known to involve cilia, and we continue to incorporate this knowledge in GO. (biomedcentral.com)
  • Cilia compartmentalize receptors and signaling machinery, including effectors of phototransduction, olfaction, mechanosensation, as well as the crucial elements of signaling pathways ( Inglis,2006 ). (eu.org)
  • We note that the pathways identified show overlap with CHD candidate genes recovered in CHD patients, suggesting that they may have relevance to the more complex genetics of CHD overall. (pitt.edu)
  • These cilia are involved in cell movement, different chemical signalling pathways perception of sensory input (such as sight, hearing, and smell) etc. (news-medical.net)
  • First, the activated odorant receptors induce a rise of the second messengers cAMP and Ca 2+ in the cilia, a process that involves cAMP-gated, Ca 2+ -permeable ion channels. (pnas.org)
  • The dendritic knob of the olfactory neuron, where the odorant receptors are located, also contains non-motile cilia (about 10 cilia per dendritic knob). (rug.nl)
  • The primary cilium, a solitary protrusion from most mammalian cells, functions as a cell sensor by receiving extracellular signals through receptors and channels accumulated in the organelle. (biologists.org)
  • A research team led by Dr Jantje Gerdes and Professor Per-Olof Berggren now demonstrate that insulin receptors sit on the cilia of beta cells in the pancreas. (innovations-report.com)
  • Stimulation of the insulin-producing beta cells increases the number of insulin receptors on their cilia. (innovations-report.com)
  • We discuss the leading hypotheses for how cilia-generated asymmetric fluid flows are translated into asymmetric molecular signals. (royalsocietypublishing.org)
  • The functioning of motile cilia is strongly dependent on the maintenance of optimal levels of fluid bathing the cilia. (rug.nl)
  • Epithelial sodium channels ENaC that are specifically expressed along the entire length of cilia apparently serve as sensors that regulate fluid level surrounding the cilia. (rug.nl)
  • The role of these cilia in processes such as mucous clearance and cerebrospinal fluid movement is well documented. (asnjournals.org)
  • Motile cilia act as subcellular paddles on fetal cells to drive fluid flow leftward. (scitechdaily.com)
  • Coordinated back and forth movement of cilia can move the cell or the fluid surrounding the cell. (medlineplus.gov)
  • By calculating numerical solutions of the slender body theory equations, we present time-dependent physically based fluid dynamics simulations of particle pathlines in flows generated by large arrays of beating cilia, showing the far-field radial streamlines predicted by the theory. (royalsocietypublishing.org)
  • Fgfr4 knockdown causes mispatterning of the LRO even before cilia on its surface initiate symmetry-breaking fluid flow, indicating a role in the earliest stages of LR development. (frontiersin.org)
  • The approach can also be used to treat other diseases if we know the gene target," profeossor Lee suggests. (genengnews.com)
  • The team was particularly interested in the potential to use CRISPR-Cas9 technology to treat neurological diseases, and focused on fragile X syndrome, an autism-associated, single-gene mutation-based disorder. (genengnews.com)
  • A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation. (nih.gov)
  • Together our results suggest a potential role for DCDC2 in the structure and function of primary cilia. (diva-portal.org)
  • Purpose of review: This review discusses recent experimental approaches to determine the function of primary cilia by conditional inactivation of genes crucial for cilia formation. (elsevier.com)
  • Hiesberger, T & Igarashi, P 2005, ' Elucidating the function of primary cilia by conditional gene inactivation ', Current opinion in nephrology and hypertension , vol. 14, no. 4, pp. 373-377. (elsevier.com)
  • Ectopic expression of VHL in RCC( VHL −) cells induced increased polarization and primary cilium formation. (aacrjournals.org)
  • Cells that swam normally carried at least one copy of the wild-type gene, whereas the nonmotile cells did not carry a copy of the wild-type gene. (rupress.org)
  • Recent studies have shown that Hedgehog (Hh) signaling in vertebrates, unlike in Drosophila melanogaster , depends on the primary cilium, a microtubule-based organelle that projects from the surface of most interphase cells ( Goetz and Anderson, 2010 ). (rupress.org)
  • This suggests the possibility that these cells acquire left-right positional information prior to the appearance of cilia. (royalsocietypublishing.org)
  • Cilia are small, hair-like structures that protrude from cells lining several organs, such as kidneys, lungs, and the spinal canal. (natureasia.com)
  • Liver cells from wild-type embryos (left) and embryos lacking Cc2d2a (right) show cilia in green (arrowheads point to examples). (nih.gov)
  • Some single-celled creatures have structures called motile cilia that beat rhythmically to allow the cells to move. (nih.gov)
  • For example, motile cilia are on cells that line the trachea, where their coordinated wave-like motions carry mucus-along with the inhaled dust, bacteria, and other small particles it contains-toward the mouth to be coughed or sneezed out of the body. (nih.gov)
  • Motile cilia, protrude from the surface of cells such as tracheal cells, and promote liquid mobility along the surface. (biomedcentral.com)
  • The cilia on these cells combine features of primary sensory and motile cilia, but how this cilia subtype is specified is unknown. (nih.gov)
  • The percentage of GRP cells (n=100-120 cells from 6 embryos) that extend cilia is indicated (%ciliated ±S.D.) Scale bars=20μm in all panels. (nih.gov)
  • CRISPR-Gold may therefore be able to treat neurological disorders and elucidate the function of genes in brain circuits, despite only editing a small fraction of the total number of brain cells after an intracranial injection," the team writes. (genengnews.com)
  • Researchers are optimistic about the broader implications of this work, Dr. Reed notes, because cilia are not only important to olfactory cells, but also to cells all over the body, from the kidney to the eye. (bioquicknews.com)
  • Researchers map learning-induced chromatin alterations in mouse brain cells, and find that many affect autism-associated genes. (the-scientist.com)
  • After stimulation of cells with Shh or SAG, endogenous Smo was enriched in primary cilia ( Fig. 1B ). (sciencemag.org)
  • The mean fluorescence intensity of Smo in cilia began to increase as early as 1 hour after stimulation of cells with Shh or SAG ( Fig. 1C and fig. S2). (sciencemag.org)
  • B ) Enrichment of Smo in primary cilia of NIH 3T3 cells left untreated (control) or treated with Shh or SAG (100 nM) for 24 hours. (sciencemag.org)
  • C ) Mean intensity of Smo fluorescence in cilia of NIH 3T3 cells treated with Shh or SAG (100 nM). (sciencemag.org)
  • We identified that progressive ventricular enlargement is associated with deceleration of motile cilia beating in ependymal cells lining ventricular walls in murine models of schizophrenia-associated 22q11 deletion syndrome (22q11DS). (medworm.com)
  • Primary cilia are small, hair-like appendages attached to the surface of human cells. (ucsd.edu)
  • Summary: Primary cilia can act as flow sensors, transmitting signals by means of calcium influx into the cells. (elsevier.com)
  • The results in frogs build upon earlier research conducted at Yale that shows that the correct left-right orientation of organs in developing embryos depends upon the proper functioning of cilia - or tiny hair-like structures on cells. (scitechdaily.com)
  • In previous work along with others, Martina Brueckner of Yale revealed tiny hair-like structures on cells called cilia could be the cause. (scitechdaily.com)
  • Finally, we show that proteasome inhibition increases steady-state levels of polycystin-1 in cells lacking glucosidase IIb and that treatment with a proteasome inhibit or reduces cystic disease in orthologous gene models of human autosomal dominant polycystic liver. (nih.gov)
  • Cilia are tiny extensions on cells and they are credited with many important functions. (innovations-report.com)
  • The cells that line our lungs, nose, brain and reproductive system have cilia, which are tiny, hair-like structures designed to sweep out fluids, cells and microbes to stay healthy. (news-medical.net)
  • For this reason, and because of its exceptionally high expression in β-cells, FFAR1 would be an ideal candidate gene to associate with diabetes and insulin secretion. (diabetesjournals.org)
  • Cilia are tiny hair-like structures on the surfaces of cells, but in the brain they are acting more like radio antennae. (emory.edu)
  • The scientists could see the interneurons migrating in spurts, with the cilia tending to extend and move "like basketball players' arms" when the cells paused. (emory.edu)
  • The gene in question, GEMC1, is indispensable for the generation of multiciliated cells specific to tissues such as the brain, trachea, lungs and oviducts. (eurekalert.org)
  • The surface of multiciliated cells is covered by hundreds of cilia. (eurekalert.org)
  • In addition, the study has revealed that GEMC1 is one of the most important genes in the gene signalling cascade for the production of multiciliated cells. (eurekalert.org)
  • Scientists at the National Eye Institute (NEI), part of the National Institutes of Health, report that tiny tube-like protrusions called primary cilia on cells of the retinal pigment epithelium (RPE) -- a layer of cells in the back of the eye -- are essential for the survival of the retina's light-sensing photoreceptors. (eurekalert.org)
  • In cases where they do mature, however, RPE maturation coincides with the emergence of primary cilia on the iPSC-RPE cells. (eurekalert.org)
  • By contrast, iPSC-derived RPE cells exposed to the third drug, an inhibitor of cilia growth, demonstrated severely disrupted structure and functionality. (eurekalert.org)
  • When iPSC-derived lung cells were exposed to drugs that enhance cilia growth, immunostaining confirmed that the cells looked structurally mature. (eurekalert.org)
  • Cilia are hair-like structures that project from the surface of most cells. (healthcanal.com)
  • This article proves that single mutation in a gene in the embryo need not necessarily result in a single defect, but linked in a major pathway in signalling other organ formation also. (scitechdaily.com)
  • The first indication that bilateral symmetry of the embryo has been broken is the L-R asymmetric expression of certain genes in regions flanking the node as well as more laterally, in the LPM. (biomedcentral.com)
  • Cilia on the surface of a developing mouse embryo. (emory.edu)
  • In ta 2 mutants, there was a strikingly low number of GLI3 target genes that had significantly increased expression in facial prominences compared to the control embryo and GLI3 occupancy at GBRs associated with target genes was largely reduced. (frontiersin.org)
  • demonstrate that the candidate congenital heart disease gene, RAPGEF5, regulates nuclear translocation of β-catenin independently of the importin β1/Ran-mediated transport system. (yale.edu)
  • Arl13b in primary cilia regulates the migration and placement of interneurons in the developing cerebral cortex. (emory.edu)
  • The work, led by IRB Barcelona PhD student Berta Terré and IFOM postdoctoral researcher Gabriele Piergiovanni, reports that GEMC1 regulates the only two genes known to date that underlie this disease, Multicilin and Cyclin O, thus making it a potential candidate gene for RGMC. (eurekalert.org)
  • Until the 1990s, the prevailing view of the primary cilium was that it was merely a vestigial organelle without important function. (rug.nl)
  • Evolutionary analysis suggests that emergence of these complexes might have been important for adaptation of an ancient organelle, the cilium, for an animal-specific signaling network. (sigmaaldrich.com)
  • Using a combination of genetics and live imaging approaches, Dr Oliver Blacque and his team in the UCD Conway Institute have recorded the movement of molecules across the base of cilia in real-time, which provided kinetic information about the barrier itself. (healthcanal.com)
  • The EFCAB7-IQCE module anchors thexa0EVC-EVC2 complex in a signaling microdomain atxa0the base of cilia. (sigmaaldrich.com)
  • The purpose of the current study is to characterize physical and genetic interactions between CEP290 and other BBS genes, and determine whether these interactions likely contribute to BBS-like symptoms using mouse models. (arvojournals.org)
  • Studies of a rare genetic disorder called Kartagener syndrome (KS) first provided an intriguing link between LR patterning and motile cilia. (royalsocietypublishing.org)
  • Copy number variations (CNVs) represent well documented neurodevelopmental disorder risk factors and, recently, de novo single nucleotide variations (SNVs) in genes involved in brain development have also been implicated in the complex genetic architecture of CO. (medworm.com)
  • How are genetic conditions and genes named? (nih.gov)
  • RESULTS The genetic screening showed a double heterozygosity for the mutation p.E508K in the HNF1A /MODY3 gene and the novel variant p.R80Q in the HNF4A /MODY1 gene. (diabetesjournals.org)
  • Invitae Corporation (NYSE: NVTA), a genetic information company, has announced that it has more than doubled the size of its genetic testing platform to include more than 600 genes and will begin releasing the new content between now and the end of the year. (news-medical.net)