AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesInformation Science
Ciliary Motility DisordersEsophageal Motility DisordersCiliaAxonemeAxonemal DyneinsGastrointestinal MotilityPurinergic AgentsEpendymaManometryKartagener SyndromeOtolithic MembraneEsophageal Spasm, DiffuseCyclic Nucleotide-Regulated Protein KinasesEsophageal AchalasiaInterstitial Cells of CajalDyneinsMucociliary ClearancePeristalsisEsophageal DiseasesIntestinal Pseudo-ObstructionEsophagusGastroparesisChlamydomonas reinhardtiiTracheaGastrointestinal DiseasesGastric EmptyingSperm MotilityEnteric Nervous SystemSpasmMovementMyoelectric Complex, MigratingDeglutition DisordersDomperidoneConstipationIntestinal DiseasesAnti-Dyskinesia AgentsEsophagogastric JunctionDeglutitionMuscle, SmoothMyenteric PlexusBipolar DisorderGastroesophageal RefluxGastrointestinal TractStomachMuscle ContractionPressureOcular Motility DisordersColonMental DisordersAnxiety DisordersMood DisordersDiagnostic and Statistical Manual of Mental DisordersCell Movement
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.
Esophageal Motility Disorders
Disorders affecting the motor function of the UPPER ESOPHAGEAL SPHINCTER; LOWER ESOPHAGEAL SPHINCTER; the ESOPHAGUS body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (GASTROESOPHAGEAL REFLUX). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus).
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)
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.
Axonemal Dyneins
Dyneins that are responsible for ciliary and flagellar beating.
Gastrointestinal Motility
The motor activity of the GASTROINTESTINAL TRACT.
Purinergic Agents
Compounds that act on PURINERGIC RECEPTORS or influence the synthesis, storage, uptake, metabolism, or release of purinergic transmitters.
Ependyma
A thin membrane that lines the CEREBRAL VENTRICLES and the central canal of the SPINAL CORD.
Manometry
Measurement of the pressure or tension of liquids or gases with a manometer.
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.
Otolithic Membrane
A gelatinous membrane overlying the acoustic maculae of SACCULE AND UTRICLE. It contains minute crystalline particles (otoliths) of CALCIUM CARBONATE and protein on its outer surface. In response to head movement, the otoliths shift causing distortion of the vestibular hair cells which transduce nerve signals to the BRAIN for interpretation of equilibrium.
Esophageal Spasm, Diffuse
A hypermotility disorder of the ESOPHAGUS that is characterized by spastic non-peristaltic responses to SWALLOWING; CHEST PAIN; and DYSPHAGIA.
Cyclic Nucleotide-Regulated Protein Kinases
A group of enzymes that catalyzes the phosphorylation of serine or threonine residues of proteins and is dependent on cyclic nucleotides.
Esophageal Achalasia
A motility disorder of the ESOPHAGUS in which the LOWER ESOPHAGEAL SPHINCTER (near the CARDIA) fails to relax resulting in functional obstruction of the esophagus, and DYSPHAGIA. Achalasia is characterized by a grossly contorted and dilated esophagus (megaesophagus).
Interstitial Cells of Cajal
c-Kit positive cells related to SMOOTH MUSCLE CELLS that are intercalated between the autonomic nerves and the effector smooth muscle cells of the GASTROINTESTINAL TRACT. Different phenotypic classes play roles as pacemakers, mediators of neural inputs, and mechanosensors.
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.
Mucociliary Clearance
A non-specific host defense mechanism that removes MUCUS and other material from the LUNGS by ciliary and secretory activity of the tracheobronchial submucosal glands. It is measured in vivo as mucus transfer, ciliary beat frequency, and clearance of radioactive tracers.
Peristalsis
A movement, caused by sequential muscle contraction, that pushes the contents of the intestines or other tubular organs in one direction.
Esophageal Diseases
Pathological processes in the ESOPHAGUS.
Intestinal Pseudo-Obstruction
A type of ILEUS, a functional not mechanical obstruction of the INTESTINES. This syndrome is caused by a large number of disorders involving the smooth muscles (MUSCLE, SMOOTH) or the NERVOUS SYSTEM.
Esophagus
The muscular membranous segment between the PHARYNX and the STOMACH in the UPPER GASTROINTESTINAL TRACT.
Gastroparesis
Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS.
Chlamydomonas reinhardtii
A species of GREEN ALGAE. Delicate, hairlike appendages arise from the flagellar surface in these organisms.
Trachea
The cartilaginous and membranous tube descending from the larynx and branching into the right and left main bronchi.
Gastrointestinal Diseases
Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM.
Gastric Emptying
The evacuation of food from the stomach into the duodenum.
Sperm Motility
Movement characteristics of SPERMATOZOA in a fresh specimen. It is measured as the percentage of sperms that are moving, and as the percentage of sperms with productive flagellar motion such as rapid, linear, and forward progression.
Enteric Nervous System
Two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gallbladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation. (From Kandel, Schwartz, and Jessel, Principles of Neural Science, 3d ed, p766)
Spasm
An involuntary contraction of a muscle or group of muscles. Spasms may involve SKELETAL MUSCLE or SMOOTH MUSCLE.
Movement
The act, process, or result of passing from one place or position to another. It differs from LOCOMOTION in that locomotion is restricted to the passing of the whole body from one place to another, while movement encompasses both locomotion but also a change of the position of the whole body or any of its parts. Movement may be used with reference to humans, vertebrate and invertebrate animals, and microorganisms. Differentiate also from MOTOR ACTIVITY, movement associated with behavior.
Myoelectric Complex, Migrating
A pattern of gastrointestinal muscle contraction and depolarizing myoelectric activity that moves from the stomach to the ILEOCECAL VALVE at regular frequency during the interdigestive period. The complex and its accompanying motor activity periodically cleanse the bowel of interdigestive secretion and debris in preparation for the next meal.
Deglutition Disorders
Difficulty in SWALLOWING which may result from neuromuscular disorder or mechanical obstruction. Dysphagia is classified into two distinct types: oropharyngeal dysphagia due to malfunction of the PHARYNX and UPPER ESOPHAGEAL SPHINCTER; and esophageal dysphagia due to malfunction of the ESOPHAGUS.
Domperidone
A specific blocker of dopamine receptors. It speeds gastrointestinal peristalsis, causes prolactin release, and is used as antiemetic and tool in the study of dopaminergic mechanisms.
Constipation
Infrequent or difficult evacuation of FECES. These symptoms are associated with a variety of causes, including low DIETARY FIBER intake, emotional or nervous disturbances, systemic and structural disorders, drug-induced aggravation, and infections.
Intestinal Diseases
Pathological processes in any segment of the INTESTINE from DUODENUM to RECTUM.
Anti-Dyskinesia Agents
Drugs used in the treatment of movement disorders. Most of these act centrally on dopaminergic or cholinergic systems. Among the most important clinically are those used for the treatment of Parkinson disease (ANTIPARKINSON AGENTS) and those for the tardive dyskinesias.
Esophagogastric Junction
The area covering the terminal portion of ESOPHAGUS and the beginning of STOMACH at the cardiac orifice.
Deglutition
The act of taking solids and liquids into the GASTROINTESTINAL TRACT through the mouth and throat.
Muscle, Smooth
Unstriated and unstriped muscle, one of the muscles of the internal organs, blood vessels, hair follicles, etc. Contractile elements are elongated, usually spindle-shaped cells with centrally located nuclei. Smooth muscle fibers are bound together into sheets or bundles by reticular fibers and frequently elastic nets are also abundant. (From Stedman, 25th ed)
Myenteric Plexus
One of two ganglionated neural networks which together form the ENTERIC NERVOUS SYSTEM. The myenteric (Auerbach's) plexus is located between the longitudinal and circular muscle layers of the gut. Its neurons project to the circular muscle, to other myenteric ganglia, to submucosal ganglia, or directly to the epithelium, and play an important role in regulating and patterning gut motility. (From FASEB J 1989;3:127-38)
Bipolar Disorder
A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.
Gastroesophageal Reflux
Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER.
Gastrointestinal Tract
Generally refers to the digestive structures stretching from the MOUTH to ANUS, but does not include the accessory glandular organs (LIVER; BILIARY TRACT; PANCREAS).
Stomach
An organ of digestion situated in the left upper quadrant of the abdomen between the termination of the ESOPHAGUS and the beginning of the DUODENUM.
Muscle Contraction
A process leading to shortening and/or development of tension in muscle tissue. Muscle contraction occurs by a sliding filament mechanism whereby actin filaments slide inward among the myosin filaments.
Pressure
A type of stress exerted uniformly in all directions. Its measure is the force exerted per unit area. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
Ocular Motility Disorders
Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)
Colon
The segment of LARGE INTESTINE between the CECUM and the RECTUM. It includes the ASCENDING COLON; the TRANSVERSE COLON; the DESCENDING COLON; and the SIGMOID COLON.
Mental Disorders
Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function.
Anxiety Disorders
Persistent and disabling ANXIETY.
Mood Disorders
Those disorders that have a disturbance in mood as their predominant feature.
Diagnostic and Statistical Manual of Mental Disorders
Categorical classification of MENTAL DISORDERS based on criteria sets with defining features. It is produced by the American Psychiatric Association. (DSM-IV, page xxii)
Cell Movement
The movement of cells from one location to another. Distinguish from CYTOKINESIS which is the process of dividing the CYTOPLASM of a cell.

Regulation of mucociliary clearance in health and disease. (1/140)

Airway secretions are cleared by mucociliary clearance (MCC), in addition to other mechanisms such as cough, peristalsis, two-phase gas-liquid flow and alveolar clearance. MCC comprises the cephalad movement of mucus caused by the cilia lining the conducting airways until it can be swallowed or expectorated. MCC is a very complex process in which many variables are involved, all of which may modify the final outcome. The structure, number, movement and co-ordination of the cilia present in the airways as well as the amount, composition and rheological properties of the periciliary and mucus layers are determinants of MCC. Physiological factors such as age, sex, posture, sleep and exercise are reported to influence MCC due to a change in the cilia, the mucus or the periciliary layer, or a combination of these. Environmental pollution is suspected to have a depressant effect on MCC dependent on different factors such as pollutant concentration and the duration of exposure. Most studies focus on sulphur dioxide, sulphuric acid, nitrogen dioxide and ozone. Tobacco smoke and hairspray have been noted to have a negative influence on MCC. Some diseases are known to affect MCC, mostly negatively. The underlying mechanism differs from one illness to another. Immotile cilia syndrome, asthma, bronchiectasis, chronic bronchitis, cystic fibrosis and some acute respiratory tract infections are among the most frequently reported. The present paper reviews normal mucociliary clearance and the effects of diseases on this process.  (+info)

A possible mechanism of primary ciliary dyskinesia: a case of a segmental defect in ciliary microtubules. (2/140)

We report here a 13-year-old woman with cough, sputum and fever. The patient had both chronic sinusitis and bronchitis. Chest X-ray and computed tomographic scan of the chest revealed mucous bronchial filling and bronchiectasia in bronchi of bilateral lower lobes, right middle lobe and left upper lobe. Aerosol inhalation scintigraphy with 99mTechnetium demonstrated delays of the discharged tracer. On the basis of these findings, primary ciliary dyskinesia was suggested. This was confirmed by the findings from nasal biopsy with transmission electron microscopy where all of the microtubules were segmentally defected near the basal body in the cilia. On the basis of these findings, we diagnosed the patient with primary ciliary dyskinesia which may be due, at least in part, to segmental defect of ciliary microtubules.  (+info)

Nasal and lower airway level of nitric oxide in children with primary ciliary dyskinesia. (3/140)

Exhaled nitric oxide can be detected in exhaled air and is readily measured by chemiluminescence. It is thought to be involved in both the regulation of ciliary motility and host defence. Recently, upper airway NO has been found to be reduced in a small number of children with primary ciliary dyskinesia (PCD) and its measurement has been recommended as a diagnostic test for this condition. The aim of this study was to compare the levels of NO in the upper and lower airways in a larger number of children with proven PCD with those found in healthy children. Exhaled NO was measured in the upper airway by direct nasal sampling during a breath-hold and in the lower airway as the end-tidal plateau level, using a chemiluminescence NO analyser. Upper airway NO levels were significantly lower in PCD (n = 21) than in the healthy children (n = 60) (mean +/-SD, 97+/-193, 664+/-298 parts per billion (ppb), respectively, p<0.0001). In PCD, the lower airway NO levels were also reduced (2.17+/-1.18, 5.94+/-3.49 ppb, respectively, p<0.0001). The levels were not associated with steroid use and did not correlate with lung function. Although there was some overlap between normal children and those with primary ciliary dyskinesia with regard to lower airway NO, nasal NO discriminated between the two groups in all but one child in each group. Measurement of nasal NO therefore may be a useful screening test for primary ciliary dyskinesia.  (+info)

Asymmetry of cilia and of mice and men. (4/140)

Evidence is given for the opinion that cilia in the early embryo, by their work, determine the laterality of the body; without ciliary work body laterality would be randomized. More exactly, monocilia in the primitive node are responsible for this determination. They have been described as being of the 9+0 type, but with dynein arms and with a gyrating movement. The orientation of the monocilia on the epithelium is of no importance but the direction of their gyration is, as may also be the shape of the node. The chirality of the cilia is thus reflected directly in the asymmetry of the body. The dynein arms go clockwise as seen from the base to tip and the ciliary rotation is in the same direction. The resulting waterflow is towards the left and so is the movement of the forming heart. In most subgroups of the immotile-cilia syndrome this mechanism does not work and equally many individuals will be born with situs inversus as with situs solitus. An exception is the immotile-cilia subgroup, named 'microtubule transposition', which is characterized by all cilia having a 9+0 structure throughout most of their length.  (+info)

Effects of drugs on mucus clearance. (5/140)

Mucociliary clearance (MCC), the process in which airway mucus together with substances trapped within are moved out of the lungs, is an important defence mechanism of the human body. Drugs may alter this process, such that it is necessary to know the effect of the drugs on MCC. Indeed, agents stimulating MCC may be used therapeutically in respiratory medicine, especially in patients suspected of having an impairment of their mucociliary transport system. In contrast, caution should be taken with drugs depressing MCC as an undesired side-effect, independently of their therapeutic indication. Since cough clearance (CC) serves as a back-up system when MCC fails, the influence of drugs must be examined not only on MCC but also on CC. Ultimately, the clinical repercussions of alterations in mucus transport induced by drug administration must be studied. Tertiary ammonium compounds (anticholinergics), aspirin, anaesthetic agents and benzodiazepines have been shown to be capable of depressing the mucociliary transport system. Cholinergics, methylxanthines, sodium cromoglycate, hypertonic saline, saline as well as water aerosol have been shown to increase MCC. Adrenergic antagonists, guaifenesin, S-carboxymethylcysteine, sodium 2-mercapto-ethane sulphonate and frusemide have been reported not to alter the mucociliary transport significantly. Amiloride, uridine 5'-triphosphate (UTP), quaternary ammonium compounds (anticholinergics), adrenergic agonists, corticosteroids, recombinant human deoxyribonuclease (rhDNase), N-acetylcysteine, bromhexine and ambroxol have been reported either not to change or to augment MCC. Indirect data suggest that surfactant as well as antibiotics may improve the mucociliary transport system. As for the influence of drugs on CC, amiloride and rhDNase have been demonstrated to increase the effectiveness of cough. A trend towards an improved CC was noted after treatment with adrenergic agonists. The anticholinergic agent ipratropium bromide, which is a quaternary ammonium compound, has been suggested to decrease CC significantly. Bromhexine, ambroxol and neutral saline seemed not to alter CC, either positively or negatively. Finally, treatment with either amiloride, recombinant human deoxyribonuclease, bromhexine, ambroxol, N-acetylcysteine, S-carboxymethylcysteine or hypertonic saline has been suggested as a possible cause of clinical improvement in patients, such as the experience of dyspnoea, the case of expectoration or the frequency of infective exacerbations. Other agents did not show a clinical benefit.  (+info)

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. (6/140)

Primary ciliary dyskinesia (PCD) is a group of heterogeneous disorders of unknown origin, usually inherited as an autosomal recessive trait. Its phenotype is characterized by axonemal abnormalities of respiratory cilia and sperm tails leading to bronchiectasis and sinusitis, which are sometimes associated with situs inversus (Kartagener syndrome) and male sterility. The main ciliary defect in PCD is an absence of dynein arms. We have isolated the first gene involved in PCD, using a candidate-gene approach developed on the basis of documented abnormalities of immotile strains of Chlamydomonas reinhardtii, which carry axonemal ultrastructural defects reminiscent of PCD. Taking advantage of the evolutionary conservation of genes encoding axonemal proteins, we have isolated a human sequence (DNAI1) related to IC78, a C. reinhardtii gene encoding a dynein intermediate chain in which mutations are associated with the absence of outer dynein arms. DNAI1 is highly expressed in trachea and testis and is composed of 20 exons located at 9p13-p21. Two loss-of-function mutations of DNAI1 have been identified in a patient with PCD characterized by immotile respiratory cilia lacking outer dynein arms. In addition, we excluded linkage between this gene and similar PCD phenotypes in five other affected families, providing a clear demonstration of locus heterogeneity. These data reveal the critical role of DNAI1 in the development of human axonemal structures and open up new means for identification of additional genes involved in related developmental defects.  (+info)

A locus for primary ciliary dyskinesia maps to chromosome 19q. (7/140)

Primary ciliary dyskinesia is an autosomal recessive condition characterised by chronic sinusitis, bronchiectasis, and subfertility. Situs inversus occurs in 50% of cases (Kartagener syndrome). It has an estimated incidence of 1 in 20 000 live births. The clinical phenotype is caused by defective ciliary function associated with a range of ultrastructural abnormalities including absent dynein arms, absent radial spokes, and disturbed ciliary orientation. The molecular genetic basis is unknown. A genome scan was performed in five Arabic families. Using GENEHUNTER, a maximal multipoint lod score (HLOD) of 4.4 was obtained on chromosome 19q13.3-qter at alpha (proportion of linked families) = 0.7. A 15 cM critical region is defined by recombinations at D19S572 and D19S218. These data provide significant evidence for a PCD locus on chromosome 19q and confirm locus heterogeneity.  (+info)

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity. (8/140)

Primary ciliary dyskinesia (PCD), or immotile cilia syndrome (ICS), is an autosomal recessive disorder affecting ciliary movement with an incidence of 1 in 20000-30000. Dysmotility to complete immotility of cilia results in a multisystem disease of variable severity with recurrent respiratory tract infections leading to bronchiectasis and male subfertility. Ultrastructural defects are present in ciliated mucosa and spermatozoa. Situs inversus (SI) is found in about half of the patients (Kartagener syndrome). We have collected samples from 61 European and North American families with PCD. A genome-wide linkage search was performed in 31 multiplex families (169 individuals including 70 affecteds) using 188 evenly spaced (19cM average interval) polymorphic markers. Both parametric (recessive model) and non-parametric (identity by descent allele sharing) linkage analyses were used. No major locus for the majority of the families was identified, although the sample was powerful enough to detect linkage if 40% of the families were linked to one locus. These results strongly suggest extensive locus heterogeneity. Potential genomic regions harbouring PCD loci were localised on chromosomes 3p, 4q, 5p, 7p, 8q, 10p, 11q, 13q, 15q, 16p, 17q and 19q. Linkage analysis using PCD families with a dynein arm deficiency provided 'suggestive' evidence for linkage to chromosomal regions 8q, 16pter, while analyses using only PCD families with situs inversus resulted in 'suggestive' scores for chromosomes 8q, and 19q.  (+info)

Immotile Cilia Syndrome Greatly Affects Ciliary Motion | Health Watch CenterImmotile Cilia Syndrome Greatly Affects Ciliary Motion | Health Watch Center
Immotile cilia syndrome is a chronic lung disease that occurs when cilia are unable to move. This condition is a rare genetic birth defect. People with this
http://healthwatchcenter.com/2011/05/immotile-cilia-syndrome/
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumTTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Ciliary dysfunction leads to a broad range of overlapping phenotypes, collectively termed ciliopathies. This grouping is underscored by genetic overlap, where causal genes can also contribute modifier alleles to clinically distinct disorders. Here we show that mutations in TTC21B, which encodes the …
https://pubmed.ncbi.nlm.nih.gov/21258341/?dopt=Abstract
Science Researcher Update | CiliopathiesScience Researcher Update | Ciliopathies
Ciliopathies | Scientific research info incl meetings, conferences, seminars, symposia,tradeshows,jobs,jobfairs, professional tips and more.
http://info.biotech-calendar.com/science-researcher-update/topic/ciliopathies
Horse Aid First Aid Kit Creative Pet Products - First Aid | Health Care | EquineHorse Aid First Aid Kit Creative Pet Products - First Aid | Health Care | Equine
Free Shipping on most orders over $60. Great Low Price. Veterinarian approved first aid kit for that special horse in your life, all of it packed in a water resistant bag that will fit most saddle bags for readiness on trail rides. Includes the following: * first aid book for horses * Corona antiseptic ointment(2 oz.) * 6X9 cold pack * 4 oz. hydrogen peroxide * thermometer* 4 Vetrap * alcohol prep pads * 4X4 gauze pads * 3-ply towels * iodine pads * 250 ml saline so
https://www.valleyvet.com/ct_detail.html?pgguid=30e07e0c-7b6a-11d5-a192-00b0d0204ae5
eHALOPH - Halophytes DatabaseeHALOPH - Halophytes Database
LEGAL NOTICES - This website is protected by Copyright © The University of Sussex, 2012, 2013, 2014, 2015, 2016, 2017, 2018, 2019, 2020. The eHALOPH database is protected by Database Right and Copyright © The University of Sussex and other contributors, 2006, 2012, 2013, 2014, 2015, 2016, 2017, 2018, 2019, 2020. This database is based on an earlier work by James Aronson ...
https://www.sussex.ac.uk/affiliates/halophytes/index.php?content=plantView&id=930
Immotile Cilia Syndrome (Primary Ciliary Dyskinesia), Including Kartagener Syndrome | The Online Metabolic and Molecular Bases...Immotile Cilia Syndrome (Primary Ciliary Dyskinesia), Including Kartagener Syndrome | The Online Metabolic and Molecular Bases...
Afzelius BA, Mossberg B, Bergström S. Afzelius B.A., Mossberg B, Bergström S Afzelius, Björn A., et al.Immotile Cilia Syndrome (Primary Ciliary Dyskinesia), Including Kartagener Syndrome. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. Valle D, Beaudet A.L., Vogelstein B, Kinzler K.W., Antonarakis S.E., Ballabio A, Gibson K, Mitchell G Eds. David Valle, et al.eds. The Online Metabolic and Molecular Bases of Inherited Disease New York, NY: McGraw-Hill; 2014. http://ommbid.mhmedical.com/content.aspx?bookid=971§ionid=62653323. Accessed January 22, 2018 ...
http://ommbid.mhmedical.com/content.aspx?bookid=971§ionid=62653323
Kartagener Syndrome | Syndromes: Rapid Recognition and Perioperative Implications | AccessAnesthesiology | McGraw-Hill MedicalKartagener Syndrome | Syndromes: Rapid Recognition and Perioperative Implications | AccessAnesthesiology | McGraw-Hill Medical
Kartagener syndrome is essentially a subtype of an inherited disorder called primary ciliary dyskinesia (PCD), a heterogeneous disease characterized by functionally abnormal cilia that are dysmotile or, rarely, absent. Defects of all of the axonemal structures, alone or in combination, have been identified in association with PCD. Overly long, overly short, and normally appearing but randomly oriented cilia have been associated with PCD and Kartagener syndrome. Finally, normal ciliary ultrastructure has been described in patients with the clinical picture of Kartagener syndrome. Lack of dynein arms, which are structures that form temporary cross-bridges between adjacent ciliary filaments and are believed to be responsible for generating movement in cilia and sperm tails, remains the most common defect identified (type 1) and the one classically associated with Kartagener syndrome. Cilia of the respiratory tract and sperms are dysmotile or nonfunctional. It has also been postulated that normal ...
http://accessanesthesiology.mhmedical.com/content.aspx?bookid=852§ionid=49517766
Full text] Primary ciliary dyskinesia: mechanisms and management | TACGFull text] Primary ciliary dyskinesia: mechanisms and management | TACG
Primary ciliary dyskinesia: mechanisms and management Nadirah Damseh,1 Nada Quercia,1,2 Nisreen Rumman,3 Sharon D Dell,4 Raymond H Kim5 1Division of Clinical and Metabolic Genetics, 2Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; 3Pediatric Department, Makassed Hospital, Jerusalem, Palestine; 4Division of Respiratory Medicine, Department of Pediatrics, Child Health Evaluative Sciences, Hospital for Sick Children, 5Fred A Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Department of Medicine, University of Toronto, Toronto, ON, Canada Abstract: Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia that is predominantly inherited in an autosomal-recessive fashion. It is associated with abnormal ciliary structure and/or function leading to chronic upper and lower respiratory tract infections, male infertility, and situs inversus. The estimated prevalence of primary ciliary dyskinesia is approximately
https://www.dovepress.com/primary-ciliary-dyskinesia-mechanisms-and-management-peer-reviewed-fulltext-article-TACG
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure | ThoraxMutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure | Thorax
It is challenging to confirm a diagnosis of PCD in patients with a compatible clinical phenotype, but who do not have hallmark defects in ciliary ultrastructure. Some specialised centres use nNO measurement as an aid to diagnosis. A few centres use videomicroscopy to evaluate ciliary waveform to confirm the diagnosis, but this assay is difficult and limited in availability.. Mutations in DNAH11 have been reported in four families in which patients with PCD have normal ciliary ultrastructure.19-21 However, the prevalence of DNAH11 mutations, and genotype-ciliary phenotype correlations, are not well defined. In this study, we tested the hypothesis that mutations in DNAH11 are a relatively common cause of PCD in patients with normal ciliary ultrastructure. We studied a large number of well characterised patients with PCD and different ciliary ultrastructural phenotypes to determine the frequency of DNAH11 mutations in each group.25 In patients with normal ciliary ultrastructure, the clinical ...
http://thorax.bmj.com/content/67/5/433
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects<...Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects<...
TY - JOUR. T1 - Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. AU - Paff, Tamara. AU - Loges, Niki T.. AU - Aprea, Isabella. AU - Wu, Kaman. AU - Bakey, Zeineb. AU - Haarman, Eric G.. AU - Daniels, Johannes M.A.. AU - Sistermans, Erik A.. AU - Bogunovic, Natalija. AU - Dougherty, Gerard W.. AU - Höben, Inga M.. AU - Große-Onnebrink, Jörg. AU - Matter, Anja. AU - Olbrich, Heike. AU - Werner, Claudius. AU - Pals, Gerard. AU - Schmidts, Miriam. AU - Omran, Heymut. AU - Micha, Dimitra. PY - 2017/1/5. Y1 - 2017/1/5. N2 - Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right body axis disturbance. Here we report maternally inherited and de novo mutations in PIH1D3 in four men affected with PCD. PIH1D3 is located on the X chromosome and is involved in the preassembly of both outer (ODA) and inner (IDA) dynein arms of cilia and sperm flagella. ...
https://research.vumc.nl/en/publications/mutations-in-pih1d3-cause-x-linked-primary-ciliary-dyskinesia-wit
Primary Ciliary Dyskinesia of Old English Sheepdog (Bobtail) | AntagenePrimary Ciliary Dyskinesia of Old English Sheepdog (Bobtail) | Antagene
The veterinarian performs a simple cheek swab and sends it to the laboratory. The result, delivered within few days, indicates if the tested dog is clear, carrier or affected for Primary Ciliary Dyskinesia. A genetic certificate displaying the result must be used as a guarantee for a mating or to justify the sale of puppies clear of Primary Ciliary Dyskinesia.. The veterinarian who notices early respiratory issues in a young Old English Sheepdog puppy can process a DNA test to confirm or refute the diagnosis of Ciliary Dyskinesia. If the dog is affected, parents have to be screened as well.. A breeder who knows the genetic status of the dog can select its breeding dogs, adapt matings, avoid the birth of affected puppies and limit the spread of this severe respiratory disease in the breed.. For more information on the PCD DNA test. Reproduction of the article is permitted if the source « ANTAGENE laboratory » is acknowledged ...
http://www.antagene.com/en/no/primary-ciliary-dyskinesia-old-english-sheepdog-bobtail
Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide - Full Text View - ClinicalTrials.govScreening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide - Full Text View - ClinicalTrials.gov
Background: Primary ciliary dyskinesia (PCD) is a rare genetic disease characterised by recurrent respiratory infections and subfertility due to dysfunction of cilia (brushes) of the lining cells. Undiagnosed and untreated it can result in an irreversible crippling chronic lung disease. The diagnosis of PCD is a difficult one and involves the complex assessment of ciliary structure and function. Thus, PCD is under diagnosed and appropriate preventative and symptomatic treatment may be denied in many patients. In addition, the gene responsible for PCD is at present unknown, thus preventing pre-natal diagnosis and genetic counseling.. Working hypothesis and aims: Recently, it has become apparent that the evaluation of nasally expired nitric oxide (NO) constitutes a simple and non-invasive diagnostic method, which discriminates between PCD patients, PCD carriers and healthy controls at high rate of specificity and sensitivity. Testing is simple and last approximately one minute. We have recently ...
https://clinicaltrials.gov/ct2/show/NCT00739817?term=primary+ciliary+dyskinesia&rank=9
Monocytes from patients with Primary Ciliary Dyskinesia show enhanced inflammatory properties and produce higher levels of pro...Monocytes from patients with Primary Ciliary Dyskinesia show enhanced inflammatory properties and produce higher levels of pro...
Patients with Primary Ciliary Dyskinesia (PCD) suffer from recurrent upper and lower airway infections due to defects in the cilia present on the respiratory epithelium. Since chronic inflammatory conditions can cause changes in innate immune responses, we investigated whether monocytes isolated from the peripheral blood of pediatric PCD patients respond differently to inflammatory stimuli, compared to monocytes from healthy children and adults. The receptor for C5a (C5aR) was upregulated in PCD, whereas expression levels of the leukocyte chemoattractant receptors CCR1, CCR2, CCR5, BLT1 and FPR1 on PCD monocytes were similar to those on monocytes from healthy individuals. Also in vitro migration of PCD monocytes towards the ligands of those receptors (CCL2, fMLP, C5a and LTB4) was normal. Compared to healthy children, PCD patients had a higher percentage of the non-classic monocyte subset (CD14+CD16++) in circulation. Finally, PCD monocytes produced higher levels of pro-inflammatory cytokines ...
https://www.physiciansweekly.com/monocytes-from-patients-with-primary-ciliary-dyskinesia-show-enhanced-inflammatory-properties-and-produce-higher-levels-of-pro-inflammatory-cytokines/
Primary ciliary dyskinesia - WikipediaPrimary ciliary dyskinesia - Wikipedia
Primary ciliary dyskinesia (PCD), also called immotile ciliary syndrome or Kartagener syndrome, is a rare, ciliopathic, autosomal recessive genetic disorder that causes defects in the action of cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear), fallopian tube, and flagella of sperm cells. The phrase immotile ciliary syndrome is no longer favored as the cilia do have movement, but are merely inefficient or unsynchronized. Respiratory epithelial motile cilia, which resemble microscopic hairs (although structurally and biologically unrelated to hair), are complex organelles that beat synchronously in the respiratory tract, moving mucus toward the throat. Normally, cilia beat 7 to 22 times per second, and any impairment can result in poor mucociliary clearance, with subsequent upper and lower respiratory infection. Cilia also are involved in other biological processes (such as nitric oxide production), which are currently the subject of dozens of research ...
https://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia
Primary Ciliary Dyskinesia (DNAI2-related) (DNAI2) - Sema4Primary Ciliary Dyskinesia (DNAI2-related) (DNAI2) - Sema4
Primary ciliary dyskinesia (DNAI2-related) is an autosomal recessive disorder caused by pathogenic variants in the DNAI2 gene. While it is found in different ethnicities around the world, it is more prevalent in individuals of Ashkenazi Jewish descent due to the presence of a founder mutation. In affected patients, ciliary dysfunction results in chronic sinusitis and bronchiectasis, frequent bouts of pneumonia, and hearing loss associated with recurrent ear infections. Most infants require respiratory assistance in the first few weeks of life. Approximately half of all affected adult males are infertile due to sperm immobility. Situs inversus, a benign condition where the internal organs are found on the opposite side of the body, is a random occurrence and therefore is expected to occur in 50% of affected individuals. Some patients have abnormal left-right axis patterning resulting in organ malformations, including the heart. These patients may have a poor prognosis. No genotype-phenotype ...
https://sema4genomics.com/products/for-pregnancy/diseases-screened/primary-ciliary-dyskinesia-dnai2-related-2/
Otolith Function in Patients With Primary Ciliary Dyskinesia - Full Text View - ClinicalTrials.govOtolith Function in Patients With Primary Ciliary Dyskinesia - Full Text View - ClinicalTrials.gov
Primary ciliary dyskinesia (PCD) is a genetically inherited condition. It is due to structural abnormalities of cilia, which are microscopic hairs found in organs and cells throughout the body. Patients with this condition typically develop upper respiratory tract symptoms such as sinusitis and glue ear, lower respiratory tract problems such as recurrent chest infections, and fertility problems. There is currently no evidence that patients with PCD have a higher incidence of balance problems. However, recent animal studies have shown that cilia may also be important in the development of part of the inner ear balance (vestibular) system, specifically the part that detects linear movement known as the otolith system.. The investigators hope to determine whether patients with PCD have absent or reduced otolith function compared to the normal population. Balance problems are not currently screened for in PCD patients, and could be unrecognized and therefore untreated. It is also possible that PCD ...
https://clinicaltrials.gov/ct2/show/NCT01246258
Primary ciliary dyskinesia | Archives of Disease in ChildhoodPrimary ciliary dyskinesia | Archives of Disease in Childhood
Primary ciliary dyskinesia (PCD) is usually inherited as an autosomal recessive, and in classical form presents with upper and lower respiratory tract infection, and mirror image arrangement in around 50% cases. It is becoming appreciated that dysfunction of cilia is implicated in a wider spectrum of disease, including polycystic liver and kidney disease, central nervous system problems including retinopathy and hydrocephalus, and biliary atresia. Cilia are complex structures, containing more than 250 proteins, but recent studies have begun to locate PCD genes scattered throughout the genome. Screening tests for PCD include nasal nitric oxide and in vivo tests of ciliary motility such as the saccharin test. Specific diagnosis requires examination of cilia by light and electron microscopy, with epithelial culture in doubtful cases. This is only available in supra-regional centres, which have recently been centrally funded by NCG in order to provide a comprehensive, free diagnostic service in ...
http://adc.bmj.com/content/early/2007/07/30/adc.2006.096958
The cell biological basis of ciliary disease | JCBThe cell biological basis of ciliary disease | JCB
Cilia have a modular organization at the ultrastructural level (Fig. 1), and the individual structural modules (for example, central pair, dynein arms, and radial spokes) are involved in different functions. For instance, the dynein arms or radial spokes are needed for motile but not for sensory functions, whereas ciliary membrane channels may be required for sensing but not for motion. Thus, a particular disease mutation can affect some particular subset of ciliary structural or functional features while leaving others intact.. This effect is clearly seen in primary ciliary dyskinesia (PCD), which is also known as immotile cilia syndrome. PCD generally involves defects in dynein arms, radial spokes, or the central pair (which is to say, components of the motile machinery). Defects in such structures would not be expected to affect signaling; for example, one does not typically observe polydactyly or other hedgehog signaling defects during development in PCD patients. Similarly, PCD patients do ...
http://jcb.rupress.org/content/180/1/17
Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein...Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein...
Reduced mucociliary clearance in primary ciliary dyskinesia (PCD) causes recurrent infections of the upper and lower respiratory tract. The disease is usually inherited as an autosomal recessive trait. To identify a gene locus for PCD, we studied a l
http://www.biomedsearch.com/nih/Homozygosity-mapping-gene-locus-primary/11062149.html
Primary Ciliary Dyskinesia Diagnosis and TreatmentPrimary Ciliary Dyskinesia Diagnosis and Treatment
Primary ciliary dyskinesia (PCD) is a rare genetic disorder often associated with chronic ear, sinus, and respiratory infections.
https://www.verywell.com/primary-ciliary-dyskinesia-pcd-4016888
Meckel-Gruber syndrome - WikipediaMeckel-Gruber syndrome - Wikipedia
Dysplastic kidneys are prevalent in over 95% of all identified cases. When this occurs, microscopic cysts develop within the kidney and slowly destroy it, causing it to enlarge to 10 to 20 times its original size. The level of amniotic fluid within the womb may be significantly altered or remain normal, and a normal level of fluid should not be criteria for exclusion of diagnosis.[citation needed] Occipital encephalocele is present in 60% to 80% of all cases, and post-axial polydactyly is present in 55% to 75% of the total number of identified cases. Bowing or shortening of the limbs are also common.[citation needed] Finding at least two of the three phenotypic features of the classical triad, in the presence of normal karyotype, makes the diagnosis solid. Regular ultrasounds and pro-active prenatal care can usually detect symptoms early on in a pregnancy.[citation needed] ...
https://en.wikipedia.org/wiki/Meckel_syndrome
Mutations in TMEM231 cause Meckel-Gruber syndrome | Journal of Medical GeneticsMutations in TMEM231 cause Meckel-Gruber syndrome | Journal of Medical Genetics
Ciliopathies are multiorgan system disorders caused by dysfunction of the primary cilium, a cytoskeletal appendage which plays essential roles in cellular homeostasis and organ development.1 ,2 Despite the common defective cilium complex, ciliopathies present diverse clinical features in addition to some overlapping phenotypes.1 ,3 The mechanism underlying the discordant clinical presentation of various ciliopathies has been poorly understood. Encouragingly, new revelations about cellular and developmental functions of ciliopathy associated genes have established an expanding network linking ciliopathies, cilium genes and their involvements in organ development, which provided an important stepping stone towards a better understanding of the genotype-phenotype correlation in these disorders.4 ,5. Meckel-Gruber syndrome (MKS) represents the severe end of the ciliopathy phenotypic spectrum. The disease is usually lethal shortly after birth, and affected children typically present with the triad of ...
http://jmg.bmj.com/content/early/2013/01/23/jmedgenet-2012-101431
Work supportet by the Foundation - Fondation Milena Carvajal - Pro-KartagenerWork supportet by the Foundation - Fondation Milena Carvajal - Pro-Kartagener
Year 2018. Grant recipient: Claudia E. Kuhni. Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study.. Halbeisen FS1, Goutaki M1,2, Spycher BD1,2, Amirav I3,4,5, Behan L6,7, Boon M8, Hogg C9, Casaulta C2,10, Crowley S11, Haarman EG12, Karadag B13, Koerner-Rettberg C14, Loebinger MR15, Mazurek H16, Morgan L17, Nielsen KG18, Omran H19, Santamaria F20, Schwerk N21, Thouvenin G22,23,24, Yiallouros P25, Lucas JS6, Latzin P2, Kuehni CE1,. Eur Respir J. 2018 Aug 23;52(2). Primary ciliary dyskinesia (PCD) has been considered a relatively mild disease, especially compared to cystic fibrosis (CF), but studies on lung function in PCD patients have been few and small.This study compared lung function from spirometry of PCD patients to normal reference values and to published data from CF patients. We calculated z-scores and % predicted values for forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) using the Global Lung Function Initiative 2012 values for 991 ...
https://pro-kartagener.ch/the-foundation/work-supportet-by-the-foundation
Proceedings of the COST action BM1407 inaugural conference BEAT-PCD: translational research in primary ciliary dyskinesia -...Proceedings of the COST action BM1407 inaugural conference BEAT-PCD: translational research in primary ciliary dyskinesia -...
PCD is a rare heterogeneous disorder characterized by impaired mucociliary clearance due to abnormal ciliary function, which is usually but not always associated with abnormal ciliary ultrastructure [1, 2]. Clinical manifestations are caused by impaired mucociliary clearance and include recurrent lower and upper respiratory tract symptoms which present soon after birth. Neonatal symptoms range in severity from mild transient tachypnoea to significant respiratory failure requiring prolonged respiratory support [3]. Recent data suggests that PCD has a progressive, and potentially severe long-term course of lower airway disease [4] with recurrent infections leading to bronchiectasis and impaired lung function. Male infertility is common since sperm flagella have a similar ultrastructure to cilia, whereas the incidence of female infertility and of ectopic pregnancy is uncertain but might be explained by immotile fallopian tube cilia [5]. Motile embryonic nodal cilia establish left-right asymmetry ...
https://bmcproc.biomedcentral.com/articles/10.1186/s12919-016-0067-0
Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton - ePrints SotonNesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton - ePrints Soton
Meckel-Gruber syndrome (MKS) is a severe autosomal recessively inherited disorder caused by mutations in genes that encode components of the primary cilium and basal body. Here we show that two MKS proteins, MKS1 and meckelin, that are required for centrosome migration and ciliogenesis interact with actin-binding isoforms of nesprin-2 (nuclear envelope spectrin repeat protein 2, also known as Syne-2 and NUANCE). Nesprins are important scaffold proteins for maintenance of the actin cytoskeleton, nuclear positioning and nuclear-envelope architecture. However, in ciliated-cell models, meckelin and nesprin-2 isoforms colocalized at filopodia prior to the establishment of cell polarity and ciliogenesis. Loss of nesprin-2 and nesprin-1 shows that both mediate centrosome migration and are then essential for ciliogenesis, but do not otherwise affect apical-basal polarity. Loss of meckelin (by siRNA and in a patient cell-line) caused a dramatic remodelling of the actin cytoskeleton, aberrant localization ...
https://eprints.soton.ac.uk/423525/
PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia | European Respiratory SocietyPICADAR: a diagnostic predictive tool for primary ciliary dyskinesia | European Respiratory Society
PICADAR comprises seven predictive variables including full-term gestational age, admittance to a neonatal unit, neonatal chest symptoms, persistent perennial rhinitis, chronic ear and hearing symptoms, situs abnormalities, and presence of a cardiac defect; such items are easily ascertained and quick to compute in any clinical setting. We did not specify cardiac defects associated with laterality defects within the score because we want PICADAR to be used by nonspecialists. PICADAR was derived in a specialist PCD centre (UHS) and validated externally in another centre (RBH). Although these two diagnostic centres are both situated in Southern England, they have different demographic populations in terms of ethnicity, consanguinity and age at assessment. Good discriminant ability was maintained when used in the validation group with AUC 0.87. The process of developing a clinical prediction rule includes four stages before ever being implemented in routine practice (derivation, internal validation, ...
https://erj.ersjournals.com/content/47/4/1103?ctkey=ERJtw155115
Lung clearance index and high-resolution computed tomography scores in primary ciliary dyskinesia. - PubMed - NCBILung clearance index and high-resolution computed tomography scores in primary ciliary dyskinesia. - PubMed - NCBI
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
https://www.ncbi.nlm.nih.gov/pubmed/23815669?dopt=Abstract
Primary Ciliary Dyskinesia via the DNAAF3 Gene - PreventionGeneticsPrimary Ciliary Dyskinesia via the DNAAF3 Gene - PreventionGenetics
As of March 2016, 6.36 Mb of sequence (83 genes, 1557 exons) generated in our lab was compared between Sanger and NextGen methodologies. We detected no differences between the two methods. The comparison involved 6400 total sequence variants (differences from the reference sequences). Of these, 6144 were nucleotide substitutions and 256 were insertions or deletions. About 65% of the variants were heterozygous and 35% homozygous. The insertions and deletions ranged in length from 1 to over 100 nucleotides.. In silico validation of insertions and deletions in 20 replicates of 5 genes was also performed. The validation included insertions and deletions of lengths between 1 and 100 nucleotides. Insertions tested in silico: 2200 between 1 and 5 nucleotides, 625 between 6 and 10 nucleotides, 29 between 11 and 20 nucleotides, 25 between 21 and 49 nucleotides, and 23 at or greater than 50 nucleotides, with the largest at 98 nucleotides. All insertions were detected. Deletions tested in silico: 1813 ...
https://www.preventiongenetics.com/testInfo.php?sel=test&val=Primary+Ciliary+Dyskinesia+via+the+DNAAF3+Gene
Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. - PubMed - NCBIPrimary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. - PubMed - NCBI
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
https://www.ncbi.nlm.nih.gov/pubmed/19948909
Kartagener-syndromás no kiviselt ikerterhessége<...Kartagener-syndromás no kiviselt ikerterhessége<...
TY - JOUR. T1 - Kartagener-syndromás no kiviselt ikerterhessége. AU - Gávai, Márta. AU - Beke, A.. AU - Urbancsek, J.. AU - Murber, Ákos. PY - 2006. Y1 - 2006. N2 - In females, the immobility of the cilia in the fallopian tube may cause barrenness. Pregnancy does not affect the frequency and severity of existing bronchitis, bronchiectasia and bronchial asthma caused by primary ciliary dyskinesia. There is an increased risk of premature delivery in patients with Kartagener syndrome. Since assisted reproduction is often used, the risk of multiple gestations is higher. Along with multiple gestation comes the increased risk of premature delivery, not only because of the presence of multiple fetuses and uterine stretching, but also because the increased size of the uterus presses against the already poorly functioning maternal lungs and can lead to infection and early rupture of the membranes. In cases where a cesarean section becomes necessary, it is very important to use the appropriate ...
https://hungary.pure.elsevier.com/en/publications/a-successful-twin-pregnancy-in-a-woman-with-kartegeners-syndrome
The transition zone: an essential functional compartment of cilia | Cilia | Full TextThe transition zone: an essential functional compartment of cilia | Cilia | Full Text
Recent studies of the primary cilium have begun to provide further insights into ciliary ultrastructure, with an emerging picture of complex compartmentalization and molecular components that combine in functional modules. Many proteins that are mutated in ciliopathies are localized to the transition zone, a compartment of the proximal region of the cilium. The loss of these components can disrupt ciliary functions such as the control of protein entry and exit from the cilium, the possible trafficking of essential ciliary components, and the regulation of signaling cascades and control of the cell cycle. The discovery of functional modules within the primary cilium may help in understanding the variable phenotypes and pleiotropy in ciliopathies.
https://ciliajournal.biomedcentral.com/articles/10.1186/2046-2530-1-10/figures/1
Kartagener SyndromeKartagener Syndrome
RiTradiology.com ดูแลรักษาโดยและเป็นของ น.พ.รัฐชัย แก้วลาย. โลโก้ RiTradiology.com เป็นลิขสิทธิ์ของ น.พ.รัฐชัย แก้วลาย. ข้อมูลส่วนตัวของคุณถือเป็นความลับและจะไม่ถูกเผยแพร่ไปยังบุคคลที่สาม. ข้อมูลใน RiTradiology.com ใช้เป็นแนวทาง, ไม่ใช่เพื่อทดแทน, การให้การวินิจฉัย, รักษาและคำแนะนำสำหรับผู้ป่วย. แพทย์ของคุณอาจให้คำแนะนำในการวินิจฉัยหรือรักษาเป็นอย่างอื่นขึ้นกับข้อมูลและสถานการณ์นั้นๆ. ...
http://radiologyinthai.blogspot.com/2010/03/kartagener-syndrome.html
JCI - Eupatilin rescues ciliary transition zone defects to ameliorate ciliopathy-related phenotypesJCI - Eupatilin rescues ciliary transition zone defects to ameliorate ciliopathy-related phenotypes
Ciliopathies are clinically overlapping genetic disorders involving structural and functional abnormalities of cilia. Currently, there are no small-molecule drugs available to treat ciliary defects in ciliopathies. Our phenotype-based screen identified the flavonoid eupatilin and its analogs as lead compounds for developing ciliopathy medication. CEP290, a gene mutated in several ciliopathies, encodes a protein that forms a complex with NPHP5 to support the function of the ciliary transition zone. Eupatilin relieved ciliogenesis and ciliary receptor delivery defects resulting from deletion of CEP290. In rd16 mice harboring a blinding Cep290 in-frame deletion, eupatilin treatment improved both opsin transport to the photoreceptor outer segment and electrophysiological responses of the retina to light stimulation. The rescue effect was due to eupatilin-mediated inhibition of calmodulin binding to NPHP5, which promoted NPHP5 recruitment to the ciliary base. Our results suggest that deficiency of a ...
https://tgnanke.com.www.mobile.jci.org/articles/view/99232/ga
JCI - Citations to Eupatilin rescues ciliary transition zone defects to ameliorate ciliopathy-related phenotypesJCI - Citations to Eupatilin rescues ciliary transition zone defects to ameliorate ciliopathy-related phenotypes
Ciliopathies are clinically overlapping genetic disorders involving structural and functional abnormalities of cilia. Currently, there are no small-molecule drugs available to treat ciliary defects in ciliopathies. Our phenotype-based screen identified the flavonoid eupatilin and its analogs as lead compounds for developing ciliopathy medication. CEP290, a gene mutated in several ciliopathies, encodes a protein that forms a complex with NPHP5 to support the function of the ciliary transition zone. Eupatilin relieved ciliogenesis and ciliary receptor delivery defects resulting from deletion of CEP290. In rd16 mice harboring a blinding Cep290 in-frame deletion, eupatilin treatment improved both opsin transport to the photoreceptor outer segment and electrophysiological responses of the retina to light stimulation. The rescue effect was due to eupatilin-mediated inhibition of calmodulin binding to NPHP5, which promoted NPHP5 recruitment to the ciliary base. Our results suggest that deficiency of a ...
https://huanyu58.com.insight.mobile.jci.org/articles/view/99232/citations
Joubert and Meckel-Gruber Syndromes via the CC2D2A Gene - PreventionGeneticsJoubert and Meckel-Gruber Syndromes via the CC2D2A Gene - PreventionGenetics
As of March 2016, 6.36 Mb of sequence (83 genes, 1557 exons) generated in our lab was compared between Sanger and NextGen methodologies. We detected no differences between the two methods. The comparison involved 6400 total sequence variants (differences from the reference sequences). Of these, 6144 were nucleotide substitutions and 256 were insertions or deletions. About 65% of the variants were heterozygous and 35% homozygous. The insertions and deletions ranged in length from 1 to over 100 nucleotides.. In silico validation of insertions and deletions in 20 replicates of 5 genes was also performed. The validation included insertions and deletions of lengths between 1 and 100 nucleotides. Insertions tested in silico: 2200 between 1 and 5 nucleotides, 625 between 6 and 10 nucleotides, 29 between 11 and 20 nucleotides, 25 between 21 and 49 nucleotides, and 23 at or greater than 50 nucleotides, with the largest at 98 nucleotides. All insertions were detected. Deletions tested in silico: 1813 ...
https://www.preventiongenetics.com/testInfo.php?sel=test&val=Joubert+and+Meckel-Gruber+Syndromes+via+the+CC2D2A+Gene
Research Spotlights Digest | Minnesota Supercomputing InstituteResearch Spotlights Digest | Minnesota Supercomputing Institute
Cilia and flagella are small, hairlike protrusions that are found on the surface of a cell body. They can be sense organs, or they can move, beating in a coordinated motion to either move the cell or to move liquids or small solids across the cell surface. A disease known as primary ciliary dyskinesia (PCD) can cause a number of human disorders. One of these is chronic destructive airway...Read more. ...
https://www.msi.umn.edu/research/spotlightdigest/summary/20141
Professor Daniel Peckham - Google ScholarProfessor Daniel Peckham - Google Scholar
University of Leeds and Leeds teaching Hospitals NHS Trust - Cited by 4,755 - Cystic Fibrosis - Primary Ciliary - Dyskinesia Bronchiectasis
https://scholar.google.co.uk/citations?user=WIVwPuUAAAAJ&hl=en
Return of the Small Family Study? Whole-Genome Analysis Shows Power | ALZFORUMReturn of the Small Family Study? Whole-Genome Analysis Shows Power | ALZFORUM
In an era of genetics research where huge cohorts seem to be the name of the game, two new papers highlight the power of small. Reported online March 10 in SciencExpress and the New England Journal of Medicine, the independent studies used whole-genome sequencing within a single family to identify disease genes for rare heritable conditions. The procedure is expensive and likely more challenging for disorders with complex phenotypes. However, some scientists say the recent advances have set a new benchmark for genetics research and diagnosis. One of the research teams plans to apply whole-genome analysis toward studies of neurodegenerative disease.. In the SciencExpress paper, researchers led by Leroy Hood and David Galas, Institute for Systems Biology, Seattle, analyzed whole-genome sequences of a family of four-two children with the recessive disorders Miller syndrome (characterized by abnormalities in the head, face, and limbs) and primary ciliary dyskinesia (which impairs mucus clearance ...
http://www.alzforum.org/news/research-news/return-small-family-study-whole-genome-analysis-shows-power
DISQUINESIA CILIAR PRIMARIA PDFDISQUINESIA CILIAR PRIMARIA PDF
DISQUINESIA CILIAR PRIMARIA PDF - Disease definition. Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper
https://malkidis.info/disquinesia-ciliar-primaria-18/
Fellow PublicationsFellow Publications
Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner EH, Nickerson DA, Shendure J, Bayly PV, Leigh MW, Knowles MR, Brody SL, Dutcher SK, Ferkol TW. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet. 2012 Oct 5;91(4):685-93. doi: 10.1016/j.ajhg.2012.08.022. PMID: ...
http://pediatrics.wustl.edu/pulmonary/Pulmonary-Fellowship/Fellow-Publications
MKS1 Gene - GeneCards | MKS1 Protein | MKS1 AntibodyMKS1 Gene - GeneCards | MKS1 Protein | MKS1 Antibody
Complete information for MKS1 gene (Protein Coding), Meckel Syndrome, Type 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKS1
CCDC80抗体|Abcam中国|Anti-CCDC80抗体CCDC80抗体|Abcam中国|Anti-CCDC80抗体
CCDC80兔多克隆抗体(ab75881)可与小鼠, 人样本反应并经WB, IHC, ICC, ICC/IF实验严格验证并得到1个独立的用户反馈。所有产品均提供质保服务，中国75%以上现货。
http://www.abcam.cn/ccdc80-antibody-ab75881.html
CCDC53抗体|Abcam中国|Anti-CCDC53抗体CCDC53抗体|Abcam中国|Anti-CCDC53抗体
CCDC53兔多克隆抗体(ab122461)可与人样本反应并经IHC实验严格验证。中国75%以上现货，所有产品均提供质保服务，可通过电话、电邮或微信获得本地专属技术支持。
http://www.abcam.cn/ccdc53-antibody-ab122461.html
Meckel-Gruber syndrome | definition of Meckel-Gruber syndrome by Medical dictionaryMeckel-Gruber syndrome | definition of Meckel-Gruber syndrome by Medical dictionary
Looking for online definition of Meckel-Gruber syndrome in the Medical Dictionary? Meckel-Gruber syndrome explanation free. What is Meckel-Gruber syndrome? Meaning of Meckel-Gruber syndrome medical term. What does Meckel-Gruber syndrome mean?
http://medical-dictionary.thefreedictionary.com/Meckel-Gruber+syndrome
Kartagener Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical TrialsKartagener Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
NIH Rare Diseases : 49 Kartagener syndrome is a type of primary ciliary dyskinesia that is also characterized by situs inversus totalis (mirror-image reversal of internal organs). The signs and symptoms vary but may include neonatal respiratory distress; frequent lung, sinus and middle ear infections beginning in early childhood; and infertility. It can be cause by changes (mutations) in many different genes that are inherited in an autosomal recessive manner. Although scientists have identified many of the genes associated with Kartagener syndrome, the genetic cause of some cases is unknown. There is no cure for Kartagener syndrome. Treatment varies based on the signs and symptoms present in each person but may include airway clearance therapy and antibiotics. Last updated: 2/2/2015 ...
http://www.malacards.org/card/kartagener_syndrome
Kartagener syndromeKartagener syndrome
Kartagener syndrome is a type of primary ciliary dyskinesia that is also characterized by situs inversus totalis (mirror-image reversal of internal organs). The signs and symptoms vary but may include neonatal respiratory distress; frequent lung, sinus and middle ear infections beginning in early childhood; and infertility. It can be cause by changes (mutations) in many different genes that are inherited in an autosomal recessive manner. Although scientists have identified many of the genes associated with Kartagener syndrome, the genetic cause of some cases is unknown. There is no cure for Kartagener syndrome. Treatment varies based on the signs and symptoms present in each person but may include airway clearance therapy and antibiotics ...
http://www.diseaseinfosearch.org/Kartagener+syndrome/3958
primary ciliary dyskinesia 9 Disease Ontology Browser - DOID:0110622primary ciliary dyskinesia 9 Disease Ontology Browser - DOID:0110622
Mutations in human and/or mouse homologs are associated with this disease. Synonyms: CILD9; primary ciliary dyskinesia 9 with or without situs inversus
http://www.informatics.jax.org/disease/612444
Primary ciliary dyskinesia definition | Drugs.comPrimary ciliary dyskinesia definition | Drugs.com
Definition of primary ciliary dyskinesia. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and definitions.
https://www.drugs.com/dict/primary-ciliary-dyskinesia.html
Meckel syndromeMeckel syndrome
Meckel syndrome is a very severe disorder that is characterized by multiple cysts on the kidneys, protrusion of a portion of the brain through an opening in the skull (occipital encephalocele), and extra fingers or toes (polydactyly). Affected children may also have abnormalities affecting the head and face, liver, lungs, genitals, and urinary tract. Because of these serious health problems, most infants with Meckel syndrome do not survive for long after birth. Meckel syndrome is caused by mutations in one of eight genes, and it is inherited in an autosomal-recessive manner ...
http://diseaseinfosearch.org/Meckel-Gruber+syndrome/9603
Peadar Noone, MD FCCP FRCPI DCH MRCGP | Department of MedicinePeadar Noone, MD FCCP FRCPI DCH MRCGP | Department of Medicine
Books and Chapters:. 1. Primary ciliary dyskinesia. Mary Leigh-Anne Daniels, Sohini Ghosh, and Peadar G Noone (Sr). Current Pulmonology Reports December 2016, Volume 5, Issue 4, pp 191-198. 2. Lobo J, Rojas-Balcazar JM, Noone PG (Sr). Recent Advances in Cystic Fibrosis. Clin Chest Medicine 2012 Jun; 33(2): 307-28.. 3. LJ Lobo, M Zariwala and PG Noone (Sr). Ciliary Dyskinesias; Primary Ciliary Dyskinesia in Adults. Monograph, Eur Resp Soc (Bronchiectasis) 2011. Chapter 9, pp 130-149. 4. Bennett WD, Noone PG, Knowles MR, Boucher RC. Regulation of Mucociliary Clearance by Purinergic Receptors. In Cilia and Mucus: From Development to Respiratory Defense, ed. Salathe M, Marcel Dekker, Inc. NY, 2001, pp 347-360.. 5. Noone PG, Knowles MR. Standard Therapy of Cystic Fibrosis Lung Disease. In: Cystic fibrosis in adults. Yankaskas JR, Knowles MR, eds. Lippincott-Raven Publishers, Philadelphia, 1999; pp 145-173.. 6. Noone PG, Bresnihan B. Rheumatologic disease in adults with CF. In: Cystic fibrosis in ...
https://www.med.unc.edu/medicine/directory/noone/
Primary ciliary dyskinesia - Royal Brompton & Harefield NHS Foundation TrustPrimary ciliary dyskinesia - Royal Brompton & Harefield NHS Foundation Trust
PCD is an inherited genetic disorder of the structure and / or function of the cilia, which are the tiny microscopic moving structures lining the airways, ears, sinuses and some other areas of the body. The sweeping, wave-like motion of cilia is important for keeping these areas clean and free from infection, acting as an essential primary defence barrier. In patients with PCD, this wave-like motion does not happen in the normal way, and in some, it does not happen at all ...
http://rbht.nhs.uk/patients/condition/primary-ciliary-dyskinesia/
DoctorDoctor
Dr Biju Thomas was trained in India, Australia and the United Kingdom. He worked at Royal Manchester Childrens hospital UK as Consultant in Paediatric Respiratory Medicine, before moving to Singapore in 2011. He is currently a senior consultant in Paediatric Respiratory Medicine at KK Womens and Childrens Hospital, Singapore and also holds academic appointments with the Duke-NUS Graduate Medical School, Yong Loo Lin School of Medicine and Lee Kong Chian School of Medicine, in Singapore. His clinical special interests include asthma, bronchiectasis, flexible bronchoscopy, paediatric sleep medicine, long term ventilation, Cystic Fibrosis and Primary Ciliary Dyskinesia (PCD). Dr. Thomass fields of research interests include paediatric sleep medicine, asthma and Primary Ciliary Dyskinesia. He is a member of the European Respiratory Society and a fellow of the Royal College of Paediatrics and Child Health ...
https://www.kkh.com.sg/profile/biju-thomas
Hydrocephalus and primary ciliary dyskinesia. | Archives of Disease in ChildhoodHydrocephalus and primary ciliary dyskinesia. | Archives of Disease in Childhood
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Centers RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.. ...
http://adc.bmj.com/content/59/5/481
Questions to Ask Your Doctor About Primary Ciliary Dyskinesia | American Lung AssociationQuestions to Ask Your Doctor About Primary Ciliary Dyskinesia | American Lung Association
Being diagnosed with a chronic disease such as PCD can be disheartening. Making notes, as well as taking along a trusted family member or friend, can help you create an open dialogue with your physician.
https://www.lung.org/lung-health-diseases/lung-disease-lookup/primary-ciliary-dyskinesia/questions-to-ask-your-doctor
Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia | BESTCILIA Project | FP7 | CORDIS | European...Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia | BESTCILIA Project | FP7 | CORDIS | European...
FP7,BESTCILIA,HEALTH.2012.2.4.4-2,REGION HOVEDSTADEN(DK),TECHNOLOGIKO PANEPISTIMIO KYPROU(CY),STICHTING VU(NL),ETHNIKO KAI KAPODISTRIAKO PANEPISTIMIO ATHINON(EL),EUROPEAN RESEARCH SERVICES GMBH(DE),UNIVERSITAET BERN(CH),THE UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL(US),UNIVERSITY OF SOUTHAMPTON(UK),ROYAL BROMPTON AND HAREFIELD NATIONAL HEALTH SERVICE TRUST(UK),WESTFAELISCHE WILHELMS-UNIVERSITAET MUENSTER(DE),UNIVERSITY OF MIAMI(US),INTERNATIONAL INSTITUTE OF MOLECULAR AND CELL BIOLOGY(PL)
https://cordis.europa.eu/project/rcn/106177/en
Primary ciliary dyskinesia service - Royal Brompton & Harefield NHS Foundation TrustPrimary ciliary dyskinesia service - Royal Brompton & Harefield NHS Foundation Trust
This site uses cookies to store information on your computer, to improve your experience. One of the cookies this site uses is essential for parts of the site to operate and has already been set. You may delete and block all cookies from this site, but parts of the site will not work. To find out more about the cookies this site uses and how to delete them, please see the privacy notice ...
http://rbht.nhs.uk/healthprofessionals/clinical-departments/paediatrics/primary-ciliary-dyskinesia-service/
immunohistochemistry - Annotationsimmunohistochemistry - Annotations
In humans, mutations of the gene B9D2 have been linked to Meckel syndrome, a severe disorder caused by dysfunction of the primary cilia during the early stages of embryogenesis. Meckel syndrome is characterised by multiple kidney cysts, occipital encephalocele (where a portion of the brain protrudes through an opening in the skull) and polydactyly, but it also commonly affects the brain and spinal cord, eyes, heart, lungs and bones.. B9d2 knockout mouse embryos included in our latest data release show the major features of Meckel syndrome, including polydactyly and defects in the brain, peripheral nervous system, heart and vascular system. They also display situs defects, where the left-right asymmetry of the body did not develop as expected. The image below shows a B9d2 knockout embryo with left pulmonary isomerism and symmetric branching of the principle bronchi from the trachea.. ...
https://blog.dmdd.org.uk/tag/immunohistochemistry/
Pathogenesis of PCD Lung Disease - Michael KnowlesPathogenesis of PCD Lung Disease - Michael Knowles
A key component of lung defense is the efficiency of mucociliary clearance (MCC). Primary ciliary dyskinesia (PCD) is a human genetic disorder with defective MC...
http://grantome.com/grant/NIH/R01-HL071798-08
Solkysten Old English Sheepdog - PCD på Old English SheepdogSolkysten Old English Sheepdog - PCD på Old English Sheepdog
Det finnes flere arvelige lidelser som også er kjent på OES. En av dem er Primary Ciliary Dyskinesia (PCD), et arvelig avvik som går på strukturen og funksjonen til flimmerhårene i luftveiene og andre steder i kroppen.. Flimmerhår, cilier, er små utløpere på overflaten av epitelcellene som kler både de øvre luftveier, nese og bihuler og nedre luftveier, luftrør og bronkier. Hver epitelcelle har 200-300 flimmerhår. Flimmerhårene skal bevege seg synkront og feie bort et teppe av slim, som inneholder partikler, døde celler, eventuelle mikroorganismer og betennelsesceller.. Hos en hund som lider av PCD vil flimmerhårene ikke gjøre jobben sin. Mangel på koordinering og ineffektivitet hos flimmerhårene fører til for dårlig transport av slimet. Dette fører til at hunden vil hoste, pipe i brystet, nyse og etter hvert som slimet blir liggende å irritere utvikles det infeksjoner i luftveiene. Det er viktig at slike hunder ikke får hostedempende medisiner da hosting er den eneste ...
http://oes.no/2009/04/06/pcd-pa-old-english-sheepdog/
General InformationGeneral Information
Ciliopathy, Centriole, Centrosome, Microtubule, Rare disease, Cell Cycle, Checkpoint, Cell Signaling, Trafficking, Flagellum, Mucus, Basal Body, Hedgehog Signaling, ADPKD, Polycystic kidney disease (PKD), Primary Cilia Dyskinesia (PCD), Bardet-Biedle Syndrome, Joubert Syndrome, Meckel-Gruber Syndrome, BBS, MKS, JBTS, ARPKD, NPHP, NPH Development, WNT IFT, Chlamydomonas
https://www.cilia2020.de/general-information/
Jeremy Reiter, MD, PhD | Biomedical Sciences Graduate ProgramJeremy Reiter, MD, PhD | Biomedical Sciences Graduate Program
Eukaryotic cilia and flagella are cellular structures familiar to schoolchildren everywhere for the elegant swath they cut as they propel protozoa through pond water. Less well recognized is the fact that a single immotile cilium is present on almost every type of vertebrate cell. These so-called primary cilia were discovered more than a century ago and, yet, their functions remain largely unexplored (Singla and Reiter, 2006).. It is now becoming clear that the primary cilium plays important roles in both development and disease. Perhaps its most dramatic function is in the kidney - ciliary defects cause polycystic kidney disease, the most common life-threatening monogenic illness. Primary cilia also have roles in sensing environmental information. Photoreceptors and odorant receptors function on primary cilia, and primary cilia are essential for sound reception. Therefore, it is not much of an exaggeration to say that we see, smell and hear through cilia.. Our work suggests that cilia also ...
http://bms.ucsf.edu/faculty/jeremy-reiter-md-phd
CILIARY FUNCTION AND DIFFERENTIATION OF AIRWAY EPITHELIA - University of Miamis Research ProfilesCILIARY FUNCTION AND DIFFERENTIATION OF AIRWAY EPITHELIA - University of Miamis Research Profiles
DESCRIPTION (provided by applicant) The long-term goal of this project is to improve our understanding of the cellular and molecular regulation mechanisms of mucociliary clearance, an important host defense mechanism of the lung. Ciliary activity is an integral part of mucociliary transport and changes in ciliary beat frequency (CBF) are often associated with similar changes in transport rates. Two widely recognized second messengers in cell signaling, cAMP and calcium ([Ca2+]i), regulate CBF. cAMP has been shown to increase CBF through a cAMP-dependent kinase- mediated event, possibly by phosphorylating a ciliary protein designated p26. Increasing [Ca2+]i also stimulates CBF, likely through a ciliary Ca2+-binding protein. Because both second messengers increase CBF, the question arises whether these signaling pathways regulate CBF through independent signal transduction cascades or whether the pathways converge at some level to affect a common target prior to dynein/microtubule interaction. ...
https://miami.pure.elsevier.com/en/projects/ciliary-function-and-differentiation-of-airway-epithelia
HKU Scholars Hub: Ciliary abnormalities in idiopathic bronchiectasisHKU Scholars Hub: Ciliary abnormalities in idiopathic bronchiectasis
The 4th Medical Research Conference (MRC 1999), Hong Kong, China, 30-31 January 1999. In Hong Kong Practitioner, 1999, v. 21 suppl., p. 33, abstract no. 59 ...
http://hub.hku.hk/handle/10722/46790
Brunel University Research Archive: Cilia-mediated signalling in the embryonic nodes: A computational fluid-structure-protein...Brunel University Research Archive: Cilia-mediated signalling in the embryonic nodes: A computational fluid-structure-protein...
The breaking of left-right symmetry in the mammalian embryo is believed to occur in a transient embryonic structure, the node, when cilia create a leftward flow of liquid. It has been widely confirmed that this nodal flow is the first sign of left-right differentiation; however, the mechanism through which embryonic cilia produce their movement and how the leftward flow confers laterality are still requiring investigation. The ciliary motility in the embryonic node involves complex dynein activations and the handed information is transmitted to the cells by the flow produced by cilia, either mechanically and/or by advection of a chemical species. In this paper, we present a computational model of ciliary ultrastructure (protein-structure model) and discuss the scenarios that incorporate this internal microtubule-dynein system with the external fluidic environment (fluid-structure-protein interaction model, FSPI). By employing computational fluid dynamics, deformable mesh computational techniques ...
http://bura.brunel.ac.uk/handle/2438/6862
Permalien vers [The importance of model organisms to study cilia and flagella biology]Permalien vers [The importance of model organisms to study cilia and flagella biology]
Lien vers Pubmed [PMID] - 21501571. Biol Aujourdhui 2011;205(1):5-28. Cilia and flagella are ubiquitous organelles that protrude from the surfaces of many cells, and whose architecture is highly conserved from protists to humans. These complex organelles, composed of over 500 proteins, can be either immotile or motile. They are involved in a myriad of biological processes, including sensing (non-motile cilia) and/or cell motility or movement of extracellular fluids (motile cilia). The ever-expanding list of human diseases linked to defective cilia illustrates the functional importance of cilia and flagella. These ciliopathies are characterised by an impressive diversity of symptoms and an often complex genetic etiology. A precise knowledge of cilia and flagella biology is thus critical to better understand these pathologies. However, multi-ciliated cells are terminally differentiated and difficult to manipulate, and a primary cilium is assembled only when the cell exits from the cell cycle. In ...
https://research.pasteur.fr/fr/publication/the-importance-of-model-organisms-to-study-cilia-and-flagella-biology/
B9 domain-containing protein 1B9 domain-containing protein 1
This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016 ...
https://pharos.nih.gov/idg/targets/Q9UPM9
Brain Dysplasia Associated with Ciliary Dysfunction in Infants with Congenital Heart Disease | Department of Biomedical...Brain Dysplasia Associated with Ciliary Dysfunction in Infants with Congenital Heart Disease | Department of Biomedical...
To test for associations between abnormal respiratory ciliary motion (CM) and brain abnormalities in infants with congenital heart disease (CHD) STUDY DESIGN: We recruited 35 infants with CHD preoperatively and performed nasal tissue biopsy to assess respiratory CM by videomicroscopy. Cranial ultrasound scan and brain magnetic resonance imaging were obtained pre- and/or postoperatively and systematically reviewed for brain abnormalities. Segmentation was used to quantitate cerebrospinal fluid and regional brain volumes. Perinatal and perioperative clinical variables were collected.. ...
http://www.dbmi.pitt.edu/node/53802
Analysis of human samples reveals impaired SHH-dependent cerebellar (...) - ENS - Départment de biologieAnalysis of human samples reveals impaired SHH-dependent cerebellar (...) - ENS - Départment de biologie
Joubert syndrome (JS) and Meckel syndrome (MKS) are pleiotropic ciliopathies characterized by severe defects of the cerebellar vermis, ranging (...)
http://www.biologie.ens.fr/depbio/spip.php?article57
Is obesity a ciliopathy, triggered by malfunctioning primary cilia?Is obesity a ciliopathy, triggered by malfunctioning primary cilia?
Is obesity a ciliopathy, a disorder such as polycystic kidney disease (PKD), which is triggered by a defect in the microscopic hair-like cilia that protrude from virtually every cell of humans and other vertebrates?
https://medicalxpress.com/news/2011-12-obesity-ciliopathy-triggered-malfunctioning-primary.html
Iris View ProfileIris View Profile
Another active area of research focuses on neural crest cells (NCCs). There is growing evidence that cilia are present on the surface of NCCs and their derivatives, and skeletal ciliopathies may be caused by abnormal NCC development. The hypothesis that we are currently testing is that factors that influence NCC identity or migration may be targeted for treatment of ciliopathies and other NCC-derived defects (including specific tumours). Chemical and genetic screening is undertaken to identify novel genes and Food and Drug Administration (FDA)-approved drugs that influence NCC development in zebrafish embryos, and these factors are tested for their ability to treat skeletal ciliopathies (e.g. craniosynostosis) in model organisms and to inhibit growth of NCC-derived tumour cell lines. ...
http://iris.ucl.ac.uk/iris/browse/profile?upi=DJENK95
Retinal degeneration associated with transition zone protein MKS6 | IOVS | ARVO JournalsRetinal degeneration associated with transition zone protein MKS6 | IOVS | ARVO Journals
Purpose : The transition zone (TZ) within retinal primary cilia plays a major role in proper localization and trafficking of proteins. Mutations occurring in TZ components result in retinal degeneration-associated ciliopathies. The exact role of the TZ gene Meckel Grüber 6 (MKS6 or CC2D2A) is currently unknown within the retina. Methods : To generate a conditional Mks6 allele, embryonic stem cells containing LoxP sites flanking exons 6 and 7 of the Mks6 allele were obtained from MMRC. Mice positive for the Mks6F allele were then mated to homozygosity (Mks6F/F) and crossed with CAGG-Cre; Mks6F/+ mice to generate the Mks6 CAGG conditional mutant line. To induce Mks6 loss, mice were injected once at a dose of 6mg/40g tamoxifen at p7 for juvenille induction. Adult induced mice were injected with 5 daily doses of 6mg/40gtamoxifen starting at p56. Mice were genotyped to confirm deletion and euthanized for analysis. To test for protein localization, eyes were enucleated, fixed, sectioned, stained and ...
http://iovs.arvojournals.org/article.aspx?articleid=2561481
Genetics again - How interesting! | Renée MacLachlans BlogGenetics again - How interesting! | Renée MacLachlans Blog
During the admission earlier this year, genetics were brought in again due to something seen on an MRI Patrick had done while in hospital. As most already know, Patrick was diagnosed with Meckel Syndrome. At the time of his birth, there were no tests for this syndrome. About 3yrs ago when Patrick had his…
https://focusingthevoice.wordpress.com/2012/10/20/genetics-again-how-interesting/
NTNU OpenNTNU Open
The cilium is a ubiquitous organelle found across species on a wide range of cell types. It is a highly varied structure able to fulfill a plethora of functions; from motile cilia serving in cell motility and establishing ...
https://ntnuopen.ntnu.no/ntnu-xmlui/?value=Gulati,%20Sasha&type=author&locale-attribute=no
Alpha-2 adrenergic receptorAlpha-2 adrenergic receptor
The relaxation of gastrointestinal tract motility is by presynaptic inhibition, where transmitters inhibit further release by ... Retrieved 27 November 2013.[full citation needed] National Institute of Neurological Disorders and Stroke (2002). " ... Decreased aqueous humor fluid production from the ciliary body The α subunit of an inhibitory G protein - Gi dissociates from ... vasodilatory effect from β2 receptors Constriction of some vascular smooth muscle Venoconstriction of veins Decrease motility ...
https://en.wikipedia.org/wiki/Alpha-2_adrenergic_receptor
AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesInformation Science
Ciliary Motility DisordersEsophageal Motility DisordersCiliaAxonemeAxonemal DyneinsGastrointestinal MotilityPurinergic AgentsEpendymaManometryKartagener SyndromeOtolithic MembraneEsophageal Spasm, DiffuseCyclic Nucleotide-Regulated Protein KinasesEsophageal AchalasiaInterstitial Cells of CajalDyneinsMucociliary ClearancePeristalsisEsophageal DiseasesIntestinal Pseudo-ObstructionEsophagusGastroparesisChlamydomonas reinhardtiiTracheaGastrointestinal DiseasesGastric EmptyingSperm MotilityEnteric Nervous SystemSpasmMovementMyoelectric Complex, MigratingDeglutition DisordersDomperidoneConstipationIntestinal DiseasesAnti-Dyskinesia AgentsEsophagogastric JunctionDeglutitionMuscle, SmoothMyenteric PlexusBipolar DisorderGastroesophageal RefluxGastrointestinal TractStomachMuscle ContractionPressureOcular Motility DisordersColonMental DisordersAnxiety DisordersMood DisordersDiagnostic and Statistical Manual of Mental DisordersCell Movement
Ciliary motility disorders | definition of Ciliary motility disorders by Medical dictionaryCiliary motility disorders | definition of Ciliary motility disorders by Medical dictionary
What is Ciliary motility disorders? Meaning of Ciliary motility disorders medical term. What does Ciliary motility disorders ... Looking for online definition of Ciliary motility disorders in the Medical Dictionary? Ciliary motility disorders explanation ... Ciliary motility disorders , definition of Ciliary motility disorders by Medical dictionary https://medical-dictionary. ... primary ciliary dyskinesia. (redirected from Ciliary motility disorders) dyskinesia. [dis-ki-ne´zhah] impairment of the power ...
https://medical-dictionary.thefreedictionary.com/Ciliary+motility+disorders
Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents - Full Text View -...Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents - Full Text View -...
Ciliary Motility Disorders. Kartagener Syndrome. Movement Disorders. Central Nervous System Diseases. Nervous System Diseases. ... Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax. 2012 May;67(5):433- ... Genetic Disorders of Mucociliary Clearance Consortium. Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia ... Primary Ciliary Dyskinesia. 2007 Jan 24 [updated 2015 Sep 3]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford ...
https://clinicaltrials.gov/ct2/show/NCT00450918
Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide - Full Text View - ClinicalTrials.govScreening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide - Full Text View - ClinicalTrials.gov
Ciliary Motility Disorders. Kartagener Syndrome. Movement Disorders. Central Nervous System Diseases. Nervous System Diseases. ... Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide. The safety and scientific validity of this study is the ... Background: Primary ciliary dyskinesia (PCD) is a rare genetic disease characterised by recurrent respiratory infections and ... The diagnosis of PCD is a difficult one and involves the complex assessment of ciliary structure and function. Thus, PCD is ...
https://clinicaltrials.gov/ct2/show/NCT00739817?term=primary+ciliary+dyskinesia&rank=9
Ciliary dysfunction in developmental abnormalities and diseasesCiliary dysfunction in developmental abnormalities and diseases
Ciliary Motility Disorders / physiopathology* * Congenital Abnormalities / physiopathology* * Humans * Kidney Diseases / ... Ciliary dysfunction in developmental abnormalities and diseases Curr Top Dev Biol. 2008;85:371-427. doi: 10.1016/S0070-2153(08) ... The connection between disease and developmental defects due to the loss of ciliary function has brought the efforts of the ... Dysfunction of the cilium is the basis for multiple human genetic disorders that have collectively been called the ciliopathies ...
https://pubmed.ncbi.nlm.nih.gov/19147012/?dopt=Abstract
Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein...Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein...
Reduced mucociliary clearance in primary ciliary dyskinesia (PCD) causes recurrent infections of the upper and lower ... Ciliary Motility Disorders / genetics*. Dyneins / genetics*. Genetic Markers. Homozygote. Humans. Linkage (Genetics). Molecular ... Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein ... Reduced mucociliary clearance in primary ciliary dyskinesia (PCD) causes recurrent infections of the upper and lower ...
http://www.biomedsearch.com/nih/Homozygosity-mapping-gene-locus-primary/11062149.html
Thalidomide in Treating Patients With MyelofibrosisThalidomide in Treating Patients With Myelofibrosis
Ciliary Motility Disorders. Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, ... Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN ... Molecular Changes and Biomarkers in Chronic Myeloproliferative Disorders. The three main chronic myeloproliferative disorders ... A Study in Myeloproliferative Disorders. The purpose of this study is to find out the safe dose range of the study drug in ...
https://www.bioportfolio.com/resources/trial/123884/Thalidomide-in-Treating-Patients-With-Myelofibrosis.html
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesAn siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
... a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis ... Ciliary Motility Disorders / genetics* * Ciliary Motility Disorders / metabolism * Ciliary Motility Disorders / pathology ... The PRPFs localize to the connecting cilium, and PRPF8- and PRPF31-mutated cells have ciliary defects. Combining the screen ... Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole- ...
https://pubmed.ncbi.nlm.nih.gov/26167768/
UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational ResourceUAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
Ciliary Motility Disorders. *Encephalocele. *Cerebellar Diseases. *Eye Abnormalities. *Kidney Diseases, Cystic. *Bardet-Biedl ...
http://www.knowcancer.com/cancer-trials/NCT01401998/
Tissue-Specific Stem Cells & Therapy | Yale Stem Cell Center | Yale School of MedicineTissue-Specific Stem Cells & Therapy | Yale Stem Cell Center | Yale School of Medicine
Asthma; Bronchial Diseases; Bronchiectasis; Ciliary Motility Disorders; Lung Diseases; Pulmonary Medicine; Respiratory Tract ...
https://medicine.yale.edu/stemcell/people/research/therapy.aspx
ColorectalColorectal
Kartagener syndrome is a congenital, autosomal recessive disorder that affects ciliary motility. It presents as a triad of ...
https://www.sages.org/?abstract-topic=colorectal
Frontiers | Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies |...Frontiers | Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies |...
Adjunctive tests include genetic analysis and repeated tests in ciliary culture specimens. There are currently 33 known genes ... Adjunctive tests include genetic analysis and repeated tests in ciliary culture specimens. There are currently 33 known genes ... characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10.000 to 1:20.000 live-born children, but ... characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10.000 to 1:20.000 live-born children, but ...
https://www.frontiersin.org/articles/10.3389/fped.2017.00135/full
An international registry for primary ciliary dyskinesia | European Respiratory SocietyAn international registry for primary ciliary dyskinesia | European Respiratory Society
... is a rare autosomal recessive disorder of ciliary motility resulting in chronic upper- and lower-airway disease. Organ ... Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder leading to chronic upper and lower airway disease. ... CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in ... Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. Eur Respir J 2014; 44: 1579-1588. ...
https://erj.ersjournals.com/content/47/3/849?ijkey=71787a58d155836a2e0c252beead42a740fd01db&keytype2=tf_ipsecsha
Carlo Iomini - Fingerprint - Johns Hopkins UniversityCarlo Iomini - Fingerprint - Johns Hopkins University
Ciliary Motility Disorders Basal Bodies Fibroblasts Catenins Exfoliation Syndrome Scanning Transmission Electron Microscopy ...
https://jhu.pure.elsevier.com/en/persons/carlo-iomini/fingerprints/
Pulmonary and Allergy Medicine - Research Output - Mayo ClinicPulmonary and Allergy Medicine - Research Output - Mayo Clinic
Neurogastroenterology and Motility. 27, 3, p. 431-442 12 p.. Research output: Contribution to journal › Article ... common variable immunodeficiency and primary ciliary dyskinesia-Results from the U.S. bronchiectasis research registry. Eden, E ...
https://mayoclinic.pure.elsevier.com/en/organisations/pulmonary-and-allergy-medicine/publications/?ordering=type&descending=false&page=2
Internal Medicine - Research Output - Mayo ClinicInternal Medicine - Research Output - Mayo Clinic
Aprepitant Has Mixed Effects on Nausea and Reduces Other Symptoms in Patients With Gastroparesis and Related Disorders. For the ... common variable immunodeficiency and primary ciliary dyskinesia-Results from the U.S. bronchiectasis research registry. Eden, E ...
https://mayoclinic.pure.elsevier.com/en/organisations/internal-medicine/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle&page=3
US6387886B1 - Method for the treatment of severe chronic bronchitis (bronchietasis) with an aerosolized antibiotic -...US6387886B1 - Method for the treatment of severe chronic bronchitis (bronchietasis) with an aerosolized antibiotic -...
These causes may include ciliary motility disorders and cystic fibrosis (CF), or processes that cause persistent damage, such ... Treatment of ocular diseases and disorders using lantibiotic compositions US20060035811A1 (en) * 2002-10-18. 2006-02-16. Luis ... Treatment of ocular diseases and disorders using lantibiotic compositions US20080139462A1 (en) * 2004-05-06. 2008-06-12. Luis ... Method for treating pulmonary disorders with liposomal amikacin formulations Gibson et al. 2006. Microbiology, safety, and ...
https://patents.google.com/patent/US6387886B1/en
JoVE | Peer Reviewed Scientific Video Journal - Methods and ProtocolsJoVE | Peer Reviewed Scientific Video Journal - Methods and Protocols
Ciliary Motility Disorders, Animal Experimentation, Microscopy, Fluorescence, Interference, Polarization, Video, Airway, ... This allows imaging of ciliary motion in the profile view along the entire tracheal length. Videos at 200 frames/sec are ... Ex vivo Method for High Resolution Imaging of Cilia Motility in Rodent Airway Epithelia ... contrast microscopy and a high speed digital camera to allow quantitative analysis of cilia beat frequency and ciliary waveform ...
https://www.jove.com/visualize/abstract/21085670/functionalized-positive-nanoparticles-reduce-mucin-swelling
JoVE | Peer Reviewed Scientific Video Journal - Methods and ProtocolsJoVE | Peer Reviewed Scientific Video Journal - Methods and Protocols
Ciliary Motility Disorders, Animal Experimentation, Microscopy, Fluorescence, Interference, Polarization, Video, Airway, ... This allows imaging of ciliary motion in the profile view along the entire tracheal length. Videos at 200 frames/sec are ... Rift Valley fever virus (RVFV), which causes hemorrhagic fever, neurological disorders or blindness in humans, and a high rate ... Ex vivo Method for High Resolution Imaging of Cilia Motility in Rodent Airway Epithelia ...
https://www.jove.com/visualize/abstract/24454736/bat-airway-epithelial-cells-novel-tool-for-study-zoonotic
Browse Faculty Research Interests | Page 8 | Office of Cooperative ResearchBrowse Faculty Research Interests | Page 8 | Office of Cooperative Research
Research interests Asthma; Bronchial Diseases; Bronchiectasis; Ciliary Motility Disorders; Lung Diseases; Respiratory Tract ...
https://ocr.yale.edu/browse-faculty?page=7
HuGE Navigator|Genopedia|PHGKBHuGE Navigator|Genopedia|PHGKB
Find Research Outputs - Discovery - the University of Dundee Research PortalFind Research Outputs - Discovery - the University of Dundee Research Portal
Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia. Shoemark, A., Frost, E., Dixon, M., Ollosson, S ... Abnormal Reward Valuation and Event-Related Connectivity in Unmedicated Major Depressive Disorder. Rupprechter, S., ...
https://discovery.dundee.ac.uk/en/publications/?format=&publicationYearsOld=5&publicationYear=2016&publicationYear=2017&publicationYear=2020&nofollow=true&ordering=type&descending=false&page=1
HuGE Navigator|Genopedia|PHGKBHuGE Navigator|Genopedia|PHGKB
Histology, Respiratory Epithelium Article - StatPearlsHistology, Respiratory Epithelium Article - StatPearls
... and abnormal sperm motility. Ciliary movement plays a role in many organs of the body. When impaired, this manifests in several ... Ciliary Dyskinesia The respiratory system relies heavily on the ability of cilia to move mucus and inhaled materials up into ... In the reproductive tract, both sperm motility from flagellae and the fimbriae of fallopian tubes are affected and often lead ... Primary ciliary dyskinesia (PCD) often presents with situs abnormalities, chronic sinus or pulmonary diseases, ...
https://statpearls.com/as/growth%20and%20development/28415/
Elias Nicholas Katsanis - Research Output - Northwestern ScholarsElias Nicholas Katsanis - Research Output - Northwestern Scholars
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in ... is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary ... Disruption of a ciliary B9 protein complex causes meckel syndrome. Dowdle, W. E., Robinson, J. F., Andreas Kneist, K., Sirerol- ... Cystic diseases of the kidney: Ciliary dysfunction and cystogenic mechanisms. Gascue, C., Katsanis, E. N. & Badano, J. L., Aug ...
https://www.scholars.northwestern.edu/en/persons/elias-nicholas-katsanis/publications/?page=3
Find Research Outputs - Discovery - the University of Dundee Research PortalFind Research Outputs - Discovery - the University of Dundee Research Portal
The Attention Deficit Hyperactivity Disorder Drugs Use Chronic Effects (ADDUCE) study. Inglis, S., Carucci, S., Garas, P., Häge ...
https://discovery.dundee.ac.uk/en/publications/?format=&publicationYearsOld=5&publicationYear=2016&publicationYear=2017&publicationYear=2020&nofollow=true&ordering=type&descending=false&page=7
CCDC40 - ddPCR Primer Pair - EvaGreen - Digital PCR | PrimePCR | Bio-RadCCDC40 - ddPCR Primer Pair - EvaGreen - Digital PCR | PrimePCR | Bio-Rad
Mutations in this gene cause ciliary dyskinesia type 15 a disorder due to defects in cilia motility. Alternative splicing ... axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes which control ciliary ...
http://www.bio-rad.com/en-us/prime-pcr-assays/assay/dhsaeg5016652-primepcr-ddpcr-expression-evagreen-assay-ccdc40-human
Search | Global Index MedicusSearch | Global Index Medicus
Ciliary Motility Disorders/pathology , Biopsy , Cilia/ultrastructure , Ciliary Motility Disorders/therapy , Dyneins/deficiency ... Background: Ciliary dyskinesia (CD) is a low incidence genetic illness, that presents with a wide clinical spectrum. Also, ... there are transitory conditions that present with ciliary anomalies, secondary to infectious diseases of the airways. Aim: To ... Clinical and ultrastructural features of ciliary dyskinesia ...
https://search.bvsalud.org/gim/?lang=en&q=mh:Dyneins/deficiency
Search | Global Index MedicusSearch | Global Index Medicus
Ciliary Motility Disorders/diagnosis , Ciliary Motility Disorders/physiopathology , Ciliary Motility Disorders/genetics ... Adult , Humans , Male , Ciliary Motility Disorders/genetics , Ciliary Motility Disorders/ultrastructure , Microscopy, Electron ... In recent years new diagnostic methods have been developed based on novel knowledge of the structural ciliary proteins, the ... The method hitherto regarded as the gold standard is the analysis of ciliary structure by transmission electron microscopy (TEM ...
https://search.bvsalud.org/gim/?lang=en&q=mh:Ciliary+Motility+Disorders/genetics
Treatment evaluation of Whartons jelly-derived mesenchymal stem cells using a chronic salpingitis model: an animal experiment ...Treatment evaluation of Wharton's jelly-derived mesenchymal stem cells using a chronic salpingitis model: an animal experiment ...
This abnormal structure resulted in primary infertility because of ciliary motility disorders [12]. Microvilli are also an ... A normal ciliary beat, the secretion of epithelial cells, and oviduct wall peristalsis all play important roles in reproductive ... function [10, 11]. Importantly, the normal structure of microtubules in the cilia directly influence ciliary beat. For example ...
https://stemcellres.biomedcentral.com/articles/10.1186/s13287-017-0685-0?optIn=true
Multisystem functional characterisation of motile ciliopathy genes HEATR2 and ZMYND10Multisystem functional characterisation of motile ciliopathy genes HEATR2 and ZMYND10
Defects in cilia motility cause a rare genetic disorder called Primary Ciliary Dyskinesia (PCD). In this thesis, I present ... dynein motors which transfer the chemical energy released from ATP hydrolysis to kinetic motion necessary for ciliary motility ... Cilia are polarized extensions of the cells microtubule-based cytoskeleton dedicated to sensory, signaling and motility-related ... The forkhead transcription factor FOXJ1, additionally activates motility genes such as the ones encoding components of axonemal ...
https://www.era.lib.ed.ac.uk/handle/1842/21683
AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesInformation Science
Ciliary Motility DisordersEsophageal Motility DisordersCiliaAxonemeAxonemal DyneinsGastrointestinal MotilityPurinergic AgentsEpendymaManometryKartagener SyndromeOtolithic MembraneEsophageal Spasm, DiffuseCyclic Nucleotide-Regulated Protein KinasesEsophageal AchalasiaInterstitial Cells of CajalDyneinsMucociliary ClearancePeristalsisEsophageal DiseasesIntestinal Pseudo-ObstructionEsophagusGastroparesisChlamydomonas reinhardtiiTracheaGastrointestinal DiseasesGastric EmptyingSperm MotilityEnteric Nervous SystemSpasmMovementMyoelectric Complex, MigratingDeglutition DisordersDomperidoneConstipationIntestinal DiseasesAnti-Dyskinesia AgentsEsophagogastric JunctionDeglutitionMuscle, SmoothMyenteric PlexusBipolar DisorderGastroesophageal RefluxGastrointestinal TractStomachMuscle ContractionPressureOcular Motility DisordersColonMental DisordersAnxiety DisordersMood DisordersDiagnostic and Statistical Manual of Mental DisordersCell Movement
Cilia motilityPrimaryDyskinesiaProteinsMucociliary clearanceBronchiectasisOuter dynein armMutationsRegulating ciliary functionSpermGeneGenesDysfunctionCystic FibrosisUltrastructureAbnormalitiesDiseasesMotileSitus inversusMicrotubule-basedKartagenerPhenotypesDevelopmentalHeterogeneousAbnormalAirwayChronicInfectionsMechanismsIntraflagellar transportHumansImmotileFlagellaDynein regulatoryStructuresAxonemalAxonemesMeSHLungsRespiratory cilia
Cilia motility7
  • Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. (wikipedia.org)
  • Defects in cilia motility cause a rare genetic disorder called Primary Ciliary Dyskinesia (PCD). (ed.ac.uk)
  • Adding to my functional studies, I present proteomic data to propose mechanisms by which HEATR2 and ZMYND10 proteins control cilia motility. (ed.ac.uk)
  • and 2) IFT88 is required to translocate the methacholine receptor, which is part of a cilia motility regulator complex, from the cilia basal body into the ciliary membrane. (alphaomegaalpha.org)
  • This gene encodes a protein that may be involved in cilia motility. (nih.gov)
  • Finally, we demonstrate that TOR signaling and cilia length are pivotal for a variety of downstream ciliary functions, such as cilia motility, fluid flow generation, and the establishment of left-right body asymmetry. (pnas.org)
  • Early this year, the Journal of Medical Genetics published a paper with this headline: "Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia. (healthnewsreview.org)
Primary46
  • Individuals with primary ciliary dyskinesia (PCD) have defective mucociliary clearance, which in turn leads to lung infections and disease. (clinicaltrials.gov)
  • Primary ciliary dyskinesia (PCD) is a rare genetic disease characterised by recurrent respiratory infections and subfertility due to dysfunction of cilia (brushes) of the lining cells. (clinicaltrials.gov)
  • Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene. (biomedsearch.com)
  • Reduced mucociliary clearance in primary ciliary dyskinesia (PCD) causes recurrent infections of the upper and lower respiratory tract. (biomedsearch.com)
  • Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. (nih.gov)
  • Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. (frontiersin.org)
  • Primary ciliary dyskinesia (PCD) is a clinically and genetically heterogeneous group of disorders of ciliary motility (MIM 244400) ( 1 ). (frontiersin.org)
  • Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder leading to chronic upper and lower airway disease. (ersjournals.com)
  • Primary ciliary dyskinesia (PCD (Online Mendelian Inheritance in Man: 244400)) is a rare autosomal recessive disorder of ciliary motility resulting in chronic upper- and lower-airway disease. (ersjournals.com)
  • Background Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. (bmj.com)
  • Primary cilliary dyskinesia (PCD) is an heterogeneous genetic disease caused by a structural and/or functional alteration of the ciliary skeleton. (bvsalud.org)
  • This series in Cilia contains both reviews and research articles covering diverse topics, including recent advances in ciliary ultrastructure, physiologic and transcriptional mechanisms of motility regulation, and discoveries relating to the role of cilia in health and disease made through analysis of Primary Ciliary Dyskinesia models and genetics. (biomedcentral.com)
  • Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder with defective structure and/or function of motile cilia/flagella, causing chronic upper and lower respiratory tract infections, fertilit. (biomedcentral.com)
  • Primary ciliary dyskinesia (PCD) is a rare inherited disease affecting motile cilia lining the respiratory tract. (aappublications.org)
  • Primary ciliary dyskinesia presents in infancy with unexplained neonatal respiratory distress, yet diagnosis is often delayed until late childhood. (aappublications.org)
  • Cerebello-oculo-renal syndrome (CORS), also called Joubert syndrome type B, and Meckel (MKS) syndrome belong to the group of developmental autosomal recessive disorders that are associated with primary cilium dysfunction. (nih.gov)
  • Novel Mutation in Retinitis Pigmentosa GTPase Regulator Gene Causes Primary Ciliary Dyskinesia and Retinitis Pigmentosa. (nih.gov)
  • The authors present a 16-year-old boy with a history of primary ciliary dyskinesia presenting with complaints of nyctalopia and visual field constriction. (nih.gov)
  • The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex and expensive, tests. (bvsalud.org)
  • Congenital defects in mucociliary clearance such as primary ciliary dyskinesia (PCD) syndromes may also be a cause, explaining almost 3% of previously idiopathic cases. (merckmanuals.com)
  • Axonemal anomalies (absence of external and/or internal dynein arms, central pair of microtubules absence) may be the cause of primary ciliary dyskinesia (PCD). (deepdyve.com)
  • Primary ciliary dyskinesia (PCD) is a rare disorder that affects the biogenesis or function of motile cilia resulting in chronic airway disease. (elsevier.com)
  • Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. (nih.gov)
  • Ciliary dyskinesia, primary, 5 (CILD5): An autosomal recessive form of primary dyskinesia, a disorder characterized by abnormalities of motile cilia. (nih.gov)
  • Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. (nih.gov)
  • Accuracy of diagnostic testing in primary ciliary dyskinesia: are we there yet? (ersjournals.com)
  • Although primary ciliary dyskinesia (PCD) is a rare disease, symptoms like recurrent upper and lower respiratory tract infections are extremely common, especially in the paediatric population. (ersjournals.com)
  • Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study. (pro-kartagener.ch)
  • Primary ciliary dyskinesia (PCD) has been considered a relatively mild disease, especially compared to cystic fibrosis (CF), but studies on lung function in PCD patients have been few and small.This study compared lung function from spirometry of PCD patients to normal reference values and to published data from CF patients. (pro-kartagener.ch)
  • Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort. (pro-kartagener.ch)
  • Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. (pro-kartagener.ch)
  • Primary ciliary dyskinesia (PCD) is an autosomal-recessive disease due to functional or ultra-structural defects of motile cilia. (pro-kartagener.ch)
  • The term primary ciliary dyskinesia (PCD (MIM 244400)) has been used for a clinically and genetically heterogeneous group of recessive disorders with defective ciliary motility resulting in chronic upper and lower respiratory tract disease. (biomedcentral.com)
  • Subsequent research lead to the replacement of the term 'immotile cilia syndrome' by 'primary ciliary dyskinesia' in order to emphasize that not only ciliary immotility but also abnormal ciliary motility causes PCD [ 2 ]. (biomedcentral.com)
  • Some individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. (smore.com)
  • Primary ciliary dyskinesia (PCD), a rare genetic disorder, is mostly caused by defects in more than 40 known cilia structure-related genes. (frontiersin.org)
  • Primary ciliary dyskinesia (PCD) is a sinopulmonary disease caused by dysfunctional immotile or dyskinetic respiratory cilia. (frontiersin.org)
  • Primary Ciliary Dyskinesia (PCD, OMIM #242650 ) or Immotile Cilia Syndrome (ICS) is an hereditary condition affecting the motility of ciliary and spermatozoa flagella. (unige.ch)
  • Case studies of children with primary ciliary dyskinesia have revealed an association between abnormally long cilia in the lung airway and recurrent lung infections, suggesting that elongated cilia fail to remove contaminants in the airway ( 7 ). (pnas.org)
  • Primary ciliary dyskinesia (PCD), also called immotile ciliary syndrome or Kartagener syndrome, is a rare, ciliopathic, autosomal recessive genetic disorder that causes defects in the action of cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear), fallopian tube, and flagella of sperm cells. (wikipedia.org)
  • Primary ciliary dyskinesia (PCD), also known as Kartagener syndrome, is a genetic disorder of the cilia, which are microscopic hair-like cells. (stanford.edu)
  • Immotile cilia syndrome (ICS) or primary ciliary dyskinesia (PCD) is an autosomal recessive disorder in humans in which the beating of cilia and sperm flagella is impaired. (biomedcentral.com)
  • Immotile cilia syndrome (ICS) or primary ciliary dyskinesia (PCD) is a human autosomal recessive disorder with a frequency of 1 in 20,000. (biomedcentral.com)
  • So it is with people who have primary ciliary dyskinesia or PCD, which, as the National Heart, Lung and Blood Institute explains , "is a rare disease that affects tiny, hair-like structures that line the airways. (healthnewsreview.org)
  • Our guest is Michele Manion, the executive director of the Primary Ciliary Dyskinesia (PCD) Foundation. (healthnewsreview.org)
  • Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by abnormally functioning cilia. (dogwellnet.com)
Dyskinesia2
  • Background: Ciliary dyskinesia (CD) is a low incidence genetic illness, that presents with a wide clinical spectrum. (bvsalud.org)
  • may be the cause of pr imar y ciliary dyskinesia (P CD). (deepdyve.com)
Proteins10
  • In recent years new diagnostic methods have been developed based on novel knowledge of the structural ciliary proteins, the genes encoding these proteins and mutations associated to DCP. (bvsalud.org)
  • The great majority of the PCD-associated genes identified so far encode either components of dynein arms (DAs), which are multiprotein-ATPase complexes essential for ciliary motility, or proteins involved in DA assembly. (pro-kartagener.ch)
  • PCD is a genetically heterogeneous disorder affecting motile cilia which are made up of approximately 250 proteins. (smore.com)
  • Around 90% of individuals with PCD have ultrastructural defects affecting proteins in the outer and inner dynein arms which give cilia their motility, with roughly 38%of these defects caused by mutations in two genes, DNAI1 and DNAH5 (code for proteins found in the ciliary outer dynein arm. (smore.com)
  • Despite major advances in understanding ciliary trafficking pathways such as intraflagellar transport (IFT), how proteins are transported to subciliary membranes remains poorly understood. (mdc-berlin.de)
  • Do all ciliary proteins utilize IFT to get into the cilium or are there alternative, yet to be discovered, transport systems? (uga.edu)
  • Using this approach, we demonstrated that many structural ciliary proteins (tubulin etc.) are cargoes of IFT. (uga.edu)
  • In our studies of the rare inherited disorder Bardet-Biedl syndrome (BBS), we are currently determining the molecular mechanism by which the BBSome (a complex of 8 BBS proteins) removes proteins that perturb cilia function from the organelle. (uga.edu)
  • Elucidate the structure, dynamics and functions of intrinsically disordered proteins and protein regions (IDPs/IDRs) and their biological regulation by Post-translational modifications. (upstate.edu)
  • There is an international effort to identify genes that code for inner dynein arm proteins or proteins from other ciliary structures (radial spokes, central apparatus, etc.) associated with PCD. (wikipedia.org)
Mucociliary clearance2
  • Likewise, novel mucociliary clearance disorders associated with a reduced number of normal functioning cilia caused by mutations in CCNO [ 14 ] and MCIDAS [ 15 ] genes producing a clinical respiratory phenotype similar to PCD may be missed by HSVM, even if cell culture is performed, as lack of cilia is often wrongly considered secondary to infections or a culture artefact. (ersjournals.com)
  • The main clinical signs are recurrent or persistent respiratory infections because of the lack of effective ciliary motility causing abnormal mucociliary clearance. (dogwellnet.com)
Bronchiectasis6
  • an apparently autosomal recessive disorder in which mucus clearance is sluggish and bronchiectasis is prevalent and intractable. (thefreedictionary.com)
  • Disorder inwhich mucus clearance is sluggish and bronchiectasis is prevalent and intractable. (thefreedictionary.com)
  • abnormality of ciliary function leading to diseases of respiratory and reproductive tracts including sinusitis and bronchiectasis. (thefreedictionary.com)
  • Bronchiectasis is best considered the common end-point of various disorders that cause chronic airway inflammation. (merckmanuals.com)
  • Diffuse bronchiectasis sometimes complicates common autoimmune disorders, such as RA or Sjögren syndrome, and can occur in the setting of hematologic malignancy, organ transplant, or due to the immune compromise associated with treatment in these conditions. (merckmanuals.com)
  • It is an autosomal recessive disorder and clinically characterized by respiratory distress, tympanitis, sinusitis, bronchiectasis, and male infertility in approximately 50% of patients. (frontiersin.org)
Outer dynein arm3
  • A deficiency of ARMC4 protein was seen in patient's respiratory cilia accompanied by loss of the distal outer dynein arm motors responsible for generating ciliary beating, giving rise to cilia immotility. (bmj.com)
  • This addition of ARMC4 to the list of genes associated with ciliary outer dynein arm defects expands our understanding of the complexities of PCD genetics. (bmj.com)
  • Whereas in healthy human respiratory epithelial cells (wt, A) both DNAH5 and acetylated α-tubulin antibodies co-localize along the entire length of the ciliary axonemes, in an individual with an outer dynein arm defect (B) , the ODA heavy chain DNAH5 is absent from the axonemes. (biomedcentral.com)
Mutations3
  • Our findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder. (nih.gov)
  • In addition, more recently PCD variants have been described with very subtle motility defects, such as those associated with mutations in GAS8 [ 13 ]. (ersjournals.com)
  • These findings highlight that Kartagener syndrome might be a complex genetic heterogeneous disorder mediated by heterozygous mutations in multiple PCD- or cilia-related genes. (frontiersin.org)
Regulating ciliary function1
  • Using a combination of genetics and imaging techniques, we investigate cellular and physiological mechanisms regulating ciliary function and motility, in vivo. (ntnu.edu)
Sperm8
  • Senchenkov, E. 2016-09-24 00:00:00 Motility is the most important property of mammalian sperm required for fertilization. (deepdyve.com)
  • Axoneme and axoneme surrounding tail components are the morphological substrate of sperm motility. (deepdyve.com)
  • Exogenous factors, and, rarely, genetic defects may cause a significant reduction in sperm motility. (deepdyve.com)
  • PCD-a severe systemic disease of the reduction of sperm motility-is just one symptom. (deepdyve.com)
  • Dysplasia of the fibrous sheath (DFO) is also genetically determined sperm motility decrease. (deepdyve.com)
  • sperm motility-is just one symptom. (deepdyve.com)
  • sperm motility decr ease. (deepdyve.com)
  • Sperm motility is also decreased. (nih.gov)
Gene3
  • Recent surprising advances in PCD genetic designed a novel approach called "gene editing" to restore gene function and normalize ciliary motility, opening up new avenues for treating PCD. (frontiersin.org)
  • The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. (nih.gov)
  • Similar to bbs gene mutants, dye-filling defect (Dyf) phenotypes are found in other ciliary and IFT mutants, including dyf-1 through dyf-13 , as well as many Osm (osmotic avoidance abnormal) and Che (abnormal chemotaxis) mutants [ 3 ]. (biomedcentral.com)
Genes8
  • En los últimos años se han desarrollado métodos diagnósticos sobre la base de un mejor conocimiento de la estructura proteica de los cilios, de los genes que codifican estas proteínas y de las mutaciones asociadas a DCP. (bvsalud.org)
  • The forkhead transcription factor FOXJ1, additionally activates motility genes such as the ones encoding components of axonemal dynein motors which transfer the chemical energy released from ATP hydrolysis to kinetic motion necessary for ciliary motility. (ed.ac.uk)
  • In addition, we show that RPGRIP1L colocalizes at the basal body and centrosomes with the protein products of both NPHP6 and NPHP4, known genes associated with MKS, CORS and nephronophthisis (a related renal disorder and ciliopathy). (nih.gov)
  • We conclude that MKS/NPHP modules comprise a TZ barrier to ARL-13 diffusion, whereas IFT genes predominantly facilitate ARL-13 ciliary entry and/or retention via active transport mechanisms. (mdc-berlin.de)
  • Taking this approach, we have identified numerous novel ciliary genes in C. elegans , some of which may be orthologs of unidentified human ciliopathy genes. (biomedcentral.com)
  • 5 ]). A key finding, which has provided the groundwork for uncovering new ciliary genes, was the discovery in 2000 by Swoboda et al . (biomedcentral.com)
  • 6 ] that C. elegans transcription factor DAF-19 regulates the expression of key ciliogenic genes (for example, che-2 , osm-1 , and osm-6 ), and is, therefore, required for building and maintaining nematode ciliary structures. (biomedcentral.com)
  • To understand ciliary assembly and motility, it is important to isolate those genes involved in the process. (biomedcentral.com)
Dysfunction2
  • Dysfunction of the cilium is the basis for multiple human genetic disorders that have collectively been called the ciliopathies. (nih.gov)
  • Hence, defects in cilia observed in ciliopathy patients affect multiple organs and result in developmental defects, heart and kidney disease, respiratory dysfunction, anosmia and neurological disorders. (ntnu.edu)
Cystic Fibrosis1
  • This is a long-term study in cystic fibrosis patients who are participating in the Cystic Fibrosis Patient Registry to assess the occurrence and risk factors for a rare bowel disorder called fibrosing colonopathy (narrowing of the large intestine). (stanford.edu)
Ultrastructure2
  • Similarly, it has been clear for many years now that TEM can show a (nearly) normal ciliary ultrastructure in specific PCD subtypes [ 13 , 21 , 22 ]. (ersjournals.com)
  • Diagnosing PCD requires a combined approach utilizing characteristic phenotypes and complementary methods for detection of defects of ciliary function and ultrastructure, measurement of nasal nitric oxide and genetic testing. (biomedcentral.com)
Abnormalities1
  • Situs inversus and ciliary abnormalities: 20 years later, what is the connection? (biomedcentral.com)
Diseases5
  • Also, there are transitory conditions that present with ciliary anomalies, secondary to infectious diseases of the airways. (bvsalud.org)
  • On the long term , we expect that our work will inspire scientist not only to simulate and imitate brain circuits in silico, but also comprehend neural mechanisms underlying neurological conditions such as stress, anxiety, eating disorders or neurodegenerative diseases and inspire the development of novel therapies. (ntnu.edu)
  • Defects in cilia function cause a plethora of diseases and developmental disorders referred to as ciliopathies. (uga.edu)
  • The goal of our research is to understand how cells assemble and maintain cilia, and to identify the molecular mechanisms underlying ciliary diseases. (uga.edu)
  • Defective cilia have been linked to a number of developmental disorders and diseases, collectively called ciliopathies. (elsevier.com)
Motile2
  • Since their initial discovery several centuries ago, motile cilia have been of general interest to basic scientists and others who study the dynamics and physiological relevance of their motility. (nih.gov)
  • Our data show that in the absence of IFT88, there is a significantly decreased number of motile points measured as a function of time, indicating impaired ciliogenesis, while the ciliary beat frequency (CBF) remains unchanged for those ciliated cells that remain. (alphaomegaalpha.org)
Situs inversus2
  • Heterotaxy (also known as situs ambiguous ) and situs inversus totalis describe disorders of laterality in which internal organs do not display their typical pattern of asymmetry. (biomedcentral.com)
  • Situs inversus , due to impaired ciliary motion during embryogenesis: lateral transposition of lungs, abdominal and thoracic viscera are on opposite sides of the body as normal. (rxpgonline.com)
Microtubule-based3
  • Cilia are polarized extensions of the cells microtubule-based cytoskeleton dedicated to sensory, signaling and motility-related functions. (ed.ac.uk)
  • Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions. (mdc-berlin.de)
  • The biogenesis and maintenance of cilia is dependent on intraflagellar transport (IFT), which is a bidirectional motility process driven by anterograde and retrograde motors that operate along the microtubule-based ciliary axoneme [ 2 ]. (biomedcentral.com)
Kartagener1
  • Kartagener syndrome is a congenital, autosomal recessive disorder that affects ciliary motility. (sages.org)
Phenotypes1
  • Our work will help lead to the recognition of new phenotypes of genetic and acquired cilia disorders that are based on dysregulation of IFTs in ciliary motility and not just anatomical structural defects of the axoneme. (alphaomegaalpha.org)
Developmental1
  • The connection between disease and developmental defects due to the loss of ciliary function has brought the efforts of the biomedical research establishment to bear on this underappreciated and long overlooked organelle. (nih.gov)
Heterogeneous1
  • Furthermore, the seemingly unrelated and heterogeneous nature of these signals emphasize that our knowledge of the mechanisms regulating ciliary size is currently limited. (pnas.org)
Abnormal1
  • The defects in the ciliary are due to an abnormal ciliary movement, which is manifest as recurrent and persistent or chronic sinopulmonary infections, among other problems as well as respiratory failure. (smore.com)
Airway1
  • Loss of ciliary motility, for example, results in chronic airway infections, situs anomalies including congenitial heart defects, and male infertility. (uga.edu)
Chronic5
  • PCD is a rare genetic disorder in which impaired mucus clearance commonly results in chronic cough and infections in the airways, sinuses, and middle ears. (clinicaltrials.gov)
  • The three main chronic myeloproliferative disorders are polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). (bioportfolio.com)
  • Major depressive disorder (MDD) is a common, severe, chronic and often life-threatening illness. (ichgcp.net)
  • Current medications for severe, chronic mood disorders are not based on pathophysiological models of illness, but rather are variation of monoaminergic-based therapies. (ichgcp.net)
  • The main consequence of impaired ciliary function is reduced or absent mucus clearance from the lungs, and susceptibility to chronic recurrent respiratory infections, including sinusitis, bronchitis, pneumonia, and otitis media. (wikipedia.org)
Infections3
  • Maxillary sinusitis due to dental disorders In case of maxillary sinusitis secondary to dental disorders, if symptoms, sinus infections persist even after apicoectomy treatment or root canal, the sinus surgery is required. (nasodren.com)
  • Recurrent sinopulmonary infections (due to impaired ciliary tract). (rxpgonline.com)
  • This can cause breathing problems, infections, and other disorders. (healthnewsreview.org)
Mechanisms1
  • Using Caenorhabditis elegans and mammalian cells, we investigated the transport mechanisms underlying compartmentalization of JS-associated ARL13B/ARL-13, which we previously found is restricted at proximal ciliary membranes. (mdc-berlin.de)
Intraflagellar transport1
  • these building blocks are sorted through a region at the cilium base known as the ciliary necklace, and then transported via intraflagellar transport (IFT) along the axoneme toward the tip for assembly. (elsevier.com)
Humans2
  • PKD is one of the most common inherited disorders in humans with an incidence of approximately 600,000 people in the United States and over 12,000,000 worldwide. (uga.edu)
  • CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. (dogwellnet.com)
Immotile1
  • The phrase "immotile ciliary syndrome" is no longer favored as the cilia do have movement, but are merely inefficient or unsynchronized. (wikipedia.org)
Flagella1
  • The motility of eukaryotic cilia and flagella is modulated in response to several extracellular stimuli. (biomedcentral.com)
Dynein regulatory1
  • It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. (wikipedia.org)
Structures2
Axonemal1
  • May play a role in ciliary/flagellar motility by regulating the assembly and the activity of axonemal inner dynein arm. (genecards.org)
Axonemes1
  • This presents limitations because analyzes a limited number of ciliary axonemes, and may exclude cases with typical functional and clinical presentation. (bvsalud.org)
MeSH1
  • Respiration Disorders" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
Lungs1
  • This action, called motility, clears the sinuses and lungs of germs that can cause infection. (smore.com)
Respiratory cilia1