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)

*CCDC40 (gene)

Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing ... "Primary Ciliary Dyskinesia". PMID 20301301. Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, ... "Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia". Journal of Medical ...

*Primary ciliary dyskinesia

... also called immotile ciliary syndrome or Kartagener syndrome, is a rare, ciliopathic, autosomal recessive genetic disorder that ... in the outer and/or inner dynein arms which give cilia their motility, with roughly 38% of these defects caused by mutations on ... "Primary Ciliary Dyskinesia". Retrieved 2007-11-16. Zariwala, MA; Knowles, MR; Omran, H (2007). "Genetic defects in ciliary ... The phrase "immotile ciliary syndrome" is no longer favored as the cilia do have movement, but are merely inefficient or ...

*Cilium

... can cause chronic disorders such as primary ciliary dyskinesia (PCD), nephronophthisis or Senior-Loken syndrome. In addition, a ... sometimes coupling the signaling to ciliary motility or alternatively to cell division and differentiation.". Larger eukaryotes ... The ciliary rootlet is a cytoskeleton-like structure that originates from the basal body at the proximal end of a cilium. It ... Ciliary defects can lead to a number of human diseases. Genetic mutations compromising the proper functioning of cilia, ...

*Ciliopathy

A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary ... sometimes coupling the signaling to ciliary motility or alternatively to cell division and differentiation." Recent advances in ... A number of common observable characteristics of mammalian genetic disorders and diseases are caused by ciliary dysgenesis and ... which localizes to mitochondria but is believed to affect ciliary function through proteolytic cleavage of ciliary proteins. ...

*Intraflagellar transport

1993). "A motility in the eukaryotic flagellum unrelated to flagellar beating". Proc Natl Acad Sci U S A. 90: 5519-23. doi: ... These and possibly many more disorders may be better understood via study of IFT. One of the most recent discoveries regarding ... Sedmak T, Wolfrum U (April 2010). "Intraflagellar transport molecules in ciliary and nonciliary cells of the retina". J. Cell ... Intraflagellar transport or IFT is a bidirectional motility along axonemal microtubules that is essential for the formation ( ...

*Bronchiectasis

Kartagener syndrome is one such disorder of cilia motility linked to the development of bronchiectasis. A common cause is ... This can be a result of genetic conditions resulting in a failure to clear sputum (primary ciliary dyskinesia), or resulting in ... Bronchiectasis may result from congenital disorders that affect cilia motility or ion transport. ... Several other congenital disorders can also lead to bronchiectasis, including Williams-Campbell syndrome and Marfan syndrome. ...

*Adrenergic receptor

Antagonists may be used primarily in hypertension, anxiety disorder, and panic attacks. The α2 receptor couples to the Gi/o ... Common (or still unspecified) effects include: Vasoconstriction of veins Decrease motility of smooth muscle in gastrointestinal ... blood vessels of ciliary body (stimulation causes mydriasis) Further effects include glycogenolysis and gluconeogenesis from ... decreased motility), vasodilation of blood vessels, especially those to skeletal muscle (although this vasodilator effect of ...

*Surugatoxin

The food-poisoning patients reported a variety of symptoms, including visual disorders, speech disorders, lazy eye amblyopia, ... suppression of spontaneous motility, and mydriasis in mice at intravenous (i.v.) dose levels of 0.5-1.0 mg/kg. At higher doses ... visual impairments and mydriasis due to ciliary ganglion blockade, dry mouth due to submaxillary and otic ganglion blockade, ...

*Chronic progressive external ophthalmoplegia

Mild visual impairment was seen in 95% of patients that were evaluated using the Visual Function Index (VF-14). The ciliary ... Experimental treatment with tetracycline has been used to improve ocular motility in one patient. Coenzyme Q10 has also been ... Zeviani M, Di Donauto S (2004). "Mitochondrial disorders". Brain. 127 (10): 2153-2172. doi:10.1093/brain/awh259. PMID 15358637 ... The progressive ophthalmoplegia is often unnoticed till decreased ocular motility limits peripheral vision. Often someone else ...

*Ciliogenesis

This requires an active mechanism that maintains ciliary length. Impairments in these mechanisms can affect the motility of the ... An emerging class of human genetic disorders". Annual Review of Genomics and Human Genetics. 7 (1): 125-148. doi:10.1146/ ... Ciliary defects can lead to a broad range of human diseases known as ciliopathies that are caused by mutations in ciliary ... The regulation of ciliary length is very important because it affects how the cell is able to use its cilia to move fluid over ...

*Ocular prosthesis

This peg thus directly transfers implant motility to the artificial eye. However, the motility peg is mounted in only a ... The vortex veins and posterior ciliary vessels may be cauterized before dividing the nerve and removing the eye. Alternatively ... Living with an ocular prosthesis requires care, but oftentimes patients who have suffered from incurable eye disorders, such as ... And both implants produce superior motility and postoperative cosmesis. Pegged (motility post) implants In hydroxyapatite ...

*Santosh G. Honavar

Ciliary body medulloepithelioma in an adult. Surv Ophthalmol. 2013 May-Jun;58(3):266-72. 61. Ali MJ, Mohapatra S, Mulay K, Naik ... Javed Ali M, Honavar S. Ophthalmic disorders in adult lymphoma patients. Middle East Afr J Ophthalmol. 2010 Oct;17(4):390. 89. ... New measurement device and technique for assessing implant and prosthetic motility. Ophthal Plast Reconstr Surg. 2007 JanFeb;23 ... Ciliary Body Medulloepithelioma: Analysis of 41 Cases. Ophthalmology. 2013 Jun 21. [Epub ahead of print] 50. Shah SJ, Ali MJ, ...

*CASS4

Beck TN, Nicolas E, Kopp MC, Golemis EA (2014). "Adaptors for disorders of the brain? The cancer signaling proteins NEDD9, ... migration and motility. Unusually, CASS4 depletion had a bimodal affect, causing some cells to have lower velocity and others ... to regulate cell cycle and ciliary resorption; it is possible that CASS4 may similarly interact with aurora-A kinase. CASS4 ... in regulation of cellular motility and migration. Because of the high degree of homology in interaction domains and some ...

*List of dog diseases

Lick granuloma also known as acral lick dermatitis, is a skin disorder in dogs resulting from an urge to lick the lower portion ... Anterior uveitis (inflammation of the iris and ciliary body) is most common in dogs. The disease is usually immune-mediated in ... Megaesophagus is a disease of the esophagus characterized by low motility and dilation. Most cases in adult dogs are idiopathic ... They can also cause a neurological disorder known as tick paralysis. Heartworm disease in dogs is spread by mosquitoes and is ...

*Alpha-2 adrenergic receptor

The relaxation of gastrointestinal tract motility is by presynaptic inhibition, where transmitters inhibit further release by ... full citation needed] National Institute of Neurological Disorders and Stroke (2002). "Methylphenidate and Clonidine Help ... 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 ...

*JADE1

Centrosome signaling contributes to the definition of cell shape, motility, orientation, polarity, division plane and to the ... "The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate β- ... "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): ...

*NEDD9

"Adaptors for disorders of the brain? The cancer signaling proteins NEDD9, CASS4, and PTK2B in Alzheimer's disease" (Oncoscience ... These GTPases regulate cell motility, proliferation and also contribute to tumor progression and invasion. In many cell types, ... by influencing ciliary stability, NEDD9 is positioned to affect these signaling systems. Interaction of NEDD9 with Aurora A ... NEDD9 stabilizes formation and regulates turnover of focal adhesions, influencing cell motility and the invasion and metastasis ...
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
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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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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
Primary ciliary dyskinesia (PCD) is a rare genetic disorder often associated with chronic ear, sinus, and respiratory infections.
Meckel syndrome (also known as Meckel-Gruber Syndrome, Gruber Syndrome, Dysencephalia Splanchnocystica) is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations (occipital encephalocele), polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios. Meckel-Gruber syndrome is named for Johann Meckel and Georg Gruber. Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal malformation. Recently, two MKS genes, MKS1 and MKS3, have been identified. A study done recently has described the cellular, sub-cellular and functional characterization of the novel proteins, MKS1 and meckelin, encoded by these genes. The malfunction of this protein production is mainly responsible for this lethal disorder. Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the ...
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 ...
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 ...
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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 ...
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.
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 ...
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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 ...
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 ...
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 ...
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. ...
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 ...
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: ...
Complete information for MKS1 gene (Protein Coding), Meckel Syndrome, Type 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
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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?
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 ...
... 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 ...
Mutations in human and/or mouse homologs are associated with this disease. Synonyms: CILD9; primary ciliary dyskinesia 9 with or without situs inversus
Definition of primary ciliary dyskinesia. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and definitions.
... 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 ...
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 ...
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 ...
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 ...
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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...
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 ...
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 ...
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 ...
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 ...
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.. ...
Joubert syndrome (JS) and Meckel syndrome (MKS) are pleiotropic ciliopathies characterized by severe defects of the cerebellar vermis, ranging (...)
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?
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. ...
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 ...
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…
From UniProt:. Ciliary dyskinesia, primary, 26 (CILD26): A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. [MIM:615500]. ...
In medical terminology hives is usually spoken as urticaria as hive is a symptom of urticaria. Most people do not develop one hive when they have urticaria, hence the name hives.Hives are a kind of skin rash notable for dark red, raised, itchy bumps. Hives are most often caused by allergic reactions but there are many other causes too. For example, most cases of hives lasting less than six weeks (acute hives) are the result of an allergic trigger ...
Arthritis, Cell, Charge, Cilia, Connective Tissue, Connective Tissue Disease, Cystic Fibrosis, Dermatomyositis, Disease, Diseases, Fibrosis, Histiocytosis, Immotile Cilia Syndrome, Juvenile Rheumatoid Arthritis, Langerhans Cell Histiocytosis, Lung, Lung Disease, Mixed Connective Tissue Disease, Patients, Radiation
Diagnosis of primary ciliary dyskinesia (PCD) by identification of dynein arm loss in transmission electron microscopy (TEM) images can be confounded by high background noise due to random electron-dense material within the ciliary matrix, leading to diagnostic uncertainty even for experienced morphologists. to generate mechanical torque [5] by forced sliding of adjacent peripheral microtubular pairs [6]. Motile cilia without two-microtubule central complexes (9+0 architecture) move in a rotatory fashion, and are responsible for a fluid current at the embryonic node that determines sidedness in the developing embryo [7]. In contrast, motile cilia with two-microtubule central complexes (9+2 architecture) have an effective stroke in a single plane, such that synchronous (per cell) and metachronous (per surface) beating allows coordinated movement of surface fluid [8, 9]. Main ciliary dyskinesia (PCD) (main here indicates congenital, rather than acquired, and not involvement of main cilia) is a ...
At this time it also emerged that cilia function played a role during LR-axis development, and both the iv and the inv mouse mutants were important in this respect. First described in 1956 [39], iv was mapped to mouse chromosome 12 in 1989 [47] and identified by a positional cloning approach in 1997 as an axonemal dynein heavy-chain gene named left/right-dynein (Lrd, currently known as dynein, axonemal, heavy chain 11; Dnah11) [48]. Lrd was shown to be expressed in the node of the embryo at E7.5, consistent with having a role in LR-development [48]. Based on the observation that the asymmetric expression patterns of Nodal and Lefty were randomized in iv/iv embryos, it was suggested that iv functions early in the genetic hierarchy of LR-specification. Nevertheless, the connection between Lrd and cilia at the node was considered unlikely; at that time, it had been supposed that cilia at the node were immotile monocilia lacking dynein arms [49] even though ciliary motility at the node, despite no ...
From UniProt:. Nephronophthisis 4 (NPHP4): An autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. [MIM:606966]. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among ...
Over 90% of the particles contained in the air we breathe are retained in the mucosa which is continuously being renewed by the ciliary function.. Most of the high airway conditions, including sinus infections, allergies and environmental contamination, alter the mucociliary function either due to nasal cilia alterations or to changes in mucosa properties. If this function is affected, the movement of mucosa is slowed down and secretions are retained and contaminating elements become accumulated together with allergens and bacteria. All this causes nasal obstruction, inflammation and infection.. Nasal irrigation cleans the surface of the mucosa of the nose and paranasal sinuses, which assists the recovery of mucociliary clearing by eliminating both the substances that cause the dysfunction as well as the secretions that have a negative effect on the ciliary movement. ...
TY - JOUR. T1 - Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome. AU - Nuovo, Sara. AU - Fuiano, Laura. AU - Micalizzi, Alessia. AU - Battini, Roberta. AU - Bertini, Enrico. AU - Borgatti, Renato. AU - Caridi, Gianluca. AU - DArrigo, Stefano. AU - Elisa, Fazzi. AU - Fischetto, Rita. AU - Ghiggeri, Gian Marco. AU - Giordano, Lucio. AU - Leuzzi, Vincenzo. AU - Romaniello, Romina. AU - Signorini, Sabrina. AU - Stringini, Gilda. AU - Zanni, Ginevra. AU - Romani, Marta. AU - Valente, Enza Maria. AU - Emma, Francesco. PY - 2018. Y1 - 2018. N2 - Background. Joubert syndrome (JS) is an inherited ciliopathy characterized by a complex midbrain-hindbrain malformation and multiorgan involvement. Renal disease, mainly juvenile nephronophthisis (NPH), was reported in 25-30% patients although only18% had a confirmed diagnosis of chronic kidney disease (CKD). NPH often remains asymptomatic for many years, resulting in delayed diagnosis. The aim of ...
A case-control study of 959 prevalent cases of parkinsonism (767 with PD) and 1989 controls across five European centres. Mucin gene mRNA levels in broilers challenged with eimeria and/or Clostridium perfringens. The bootstrapping procedure indicated that the parameter estimates were very stable, thus lending greater credence to the model.. These data provide a reference for the Y-STR database in Jilin Province, and they may be valuable for population genetic analysis. Ten-year experience using a plastic, disposable curette for the diagnosis of primary ciliary dyskinesia. Of the eight patients with Stage II-III disease, six patients eventually died of metastatic disease despite additional radiotherapy and/or chemotherapy.. These data provide important new insight into augmentin bambini the molecular mechanisms of apoptosis resistance in co-stimulated T cells. In chromaffin cells, ARF6 is specifically associated with the membrane of secretory chromaffin granules. Analysis of the complete ...
Cilia are antenna-like membrane-associated structures which play essential roles during development, and during the normal function of many cells throughout the body. Dysfunction of these organelles can lead to serious illnesses, involving deafness and blindness, as well as life-threatening complications such as kidney and liver disease, diabetes, respiratory problems, and obesity. These so-called "ciliopathies" are usually genetically inherited, and at present there are few, if any cures.. Following collaborations with Phil Beales (Institute of Child Health, UCL) on Bardet-Biedl Syndrome, and with Jan Marshall (Jackson Labs, USA) on Alström Syndrome, we are continuing to work in the field of human ciliary diseases. In collaboration with Colin Johnson (University of Leeds) we more recently characterized the role of the Meckel-Gruber Syndrome protein TMEM67 in the development of the cochlea.. In related public engagement projects I have worked with patient support groups such as Alström ...
Mainzer-Saldino syndrome (MZSDS) is a skeletal ciliopathy and part of the short-rib thoracic dysplasia (SRTD) group of ciliary disorders. The main characteristics of MZSDS are short limbs, mild narrow thorax, blindness, and renal failure. Thus far, variants in two genes are associated with MZSDS: IFT140, and IFT172. In this study, we describe a 1-year-old girl presenting with mild skeletal abnormalities, Leber congenital amaurosis, and bilateral hearing difficulties. For establishing an accurate diagnosis, we combined clinical, molecular, and functional analyses. We performed diagnostic whole-exome sequencing (WES) analysis to determine the genetic cause of the disease and analyzed two gene panels, containing all currently known genes in vision disorders, and in hearing impairment. Upon detection of the likely causative variants, ciliary phenotyping was performed in patient urine-derived renal epithelial cells (URECs) and rescue experiments were performed in CRISPR/Cas9-derived Ift140 knock out cells to
Across the animal and plant kingdom, motile cilia and flagella serve many important biological functions, including cellular propulsion, fluid transport, and sensory signaling - to name only a few. Unraveling the physiology of these integral cell organelles is an interdisciplinary endeavor at the interface of physics and biology. This research field involves studies of ciliary structure, self-organized dynamics of the ciliary beat, collective dynamics at the cellular and multicellular level, and the pathophysiology of impaired cilia function in ciliopathies. The aim of this seminar is to bring together scientists from different disciplines to address the physical, biological, and medical aspects of motile cilia.. The main topics of the seminar are:. ...
Cilia are conserved organelles that have important motility, sensory and signalling roles. The transition zone (TZ) at the base of the cilium is critical for cilia function, and defects in several TZ proteins are associated with human congenital ciliopathies such as Nephronophthisis (NPHP) and Meckel Gruber syndrome (MKS). In several species, MKS and NPHP proteins form separate complexes that cooperate with Cep290 to assemble the TZ, but flies appear to lack core components of the NPHP module. We show that MKS proteins in flies are spatially separated from Cep290 at the TZ, and that flies mutant for individual MKS genes fail to recruit other MKS proteins to the TZ, while Cep290 appears to be recruited normally. Although there are abnormalities in microtubule and membrane organisation in developing MKS mutant cilia, these defects are less apparent in adults, where sensory cilia and sperm flagella appear to function quite normally. Thus, localising MKS proteins to the cilium or flagellum is not ...
Purpose : Primary cilia are hair-like organelles that extend from the apical surface of most mammalian cells. Defects in primary cilia in the eye cause ciliopathies, including renal disease, cerebral anomalies and retinitis pigmentosa. Currently, it is well-known that the connecting cilium in rod and cone photoreceptors contribute to phototransduction. However, the role of cilia in non-photoreceptors in the retina remains unknown. The purpose of this study is to describe the distribution of primary cilia in other layers of retina in mouse and human during development. Methods : In this study, eyes were collected from the different developmental stages in Centrin2-GFP::Arl13b-mCherry transgenic mice, wildtype CD1 mice and C57BL/6J mice to study the distribution of primary cilia in vivo. Retinal sections were stained using Pax6, Sox9, and Chx10 antibodies to determine the fraction of ciliated cells that express these markers. In addition, wildtype CD1 and C57BL/6J mice eyes were used for whole ...
Recommended Readings. Dixon-Salazar, T. J., J. L. Silhavy, N. Udpa, J. Schroth, S. Bielas, A. E. Schaffer, J. Olvera, et al. 2012. "Exome Sequencing can Improve Diagnosis and Alter Patient Management." Science Translational Medicine 4 (138). Novarino, G., N. Akizu, and J. G. Gleeson. 2011. "Modeling Human Disease in Humans: The Ciliopathies." Cell 147 (1): 70-79. Novarino, G., P. El-Fishawy, H. Kayserili, N. A. Meguid, E. M. Scott, J. Schroth, J. L. Silhavy, et al. 2012. "Mutations in BCKD-Kinase Lead to a Potentially Treatable Form of Autism with Epilepsy." Science 338 (6105): 394-397. Parisi, M. A., C. L. Bennett, M. L. Eckert, W. B. Dobyns, J. G. Gleeson, D. W. W. Shaw, R. McDonald, A. Eddy, P. F. Chance, and I. A. Glass. 2004. "The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis is Present in a Subset of Individuals with Joubert Syndrome." American Journal of Human Genetics 75 (1): 82-91. Yaari, R., I. A. Anselm, I. S. Szer, D. M. Malicki, M. P. Nespeca, and J. G. Gleeson. ...
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Cilia, tiny hair-like structures that propel mucus out of airways, have to agree on the direction of the fluid flow to get things moving. Researchers at the Salk Institute for Biological Studies discovered a novel two-step ...
ciliform definition: Having the as a type of cilia; obtaining the form of cilia; extremely fine or slim.; Having the as a type of cilia; obtaining the kind of cilia; extremely good or thin.
DNAH5: dynein, axonemal, heavy chain 5 gene; DNAI1: dynein, axonemal, intermediate chain 1 gene; DNAH11: dynein, axonemal, heavy chain 11 gene; TXNDC3: thioredoxin domain containing 3 (spermatozoa) gene; DNAI2: dynein, axonemal, intermediate chain 2 gene; KTU: chromosome 14 open reading frame 104 gene; RPGR: retinitis pigmentosa guanosine triphosphatase regulator gene; OFD1: oral-facial-digital syndrome 1 gene; RSPH9: radial spoke head 9 homologue (Chlamydomonas) gene; RSPH4A: radial spoke head 4 homologue A (Chlamydomonas) gene; ODA: outer dynein arm; IDA: inner dynein arm; CP: central pair; c.: cDNA sequence; del: deletion; T: thymidine; IVS: intervening sequence; ins: insertion; G: guanine; A: adenine; KS: Kartageners syndrome. ...
Looking for online definition of situs inversus in the Medical Dictionary? situs inversus explanation free. What is situs inversus? Meaning of situs inversus medical term. What does situs inversus mean?
The incidence of congenital disorders of the respiratory tract is low and their effects are particularly seen during the first year of life. Congenital disorders can be subdivided into abnormalities of the thorax, specifically the diaphragm (hernia of the diaphragm), the lung (lung sequestration, cystic adenomatoid malformation, bronchogenic cyst, foregut cyst), the blood supply (aberrant vascularisation, double arch of the aorta), the airways (tracheal rings, tracheomalacia, tracheal atresia) and the larynx and oral cavity. Investigation and management of these diseases is usually organised in specialised centres.. Primary ciliary dyskinesia is an inherited disorder characterised by specific ultrastructural defects of cilia that are associated with impaired ciliary motion and mucociliary clearance. It results in ineffective clearance of mucous secretions and inhaled particles, including bacteria. The disease is characterised by recurrent or persistent rhinitis, sinusitis, otitis media and ...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Meckel syndrome
Congenital heart defects are common with all the heterotaxias, going from maybe 10% of cases with situs inversus to nearly all cases with situs ambiguous. Partial or focal rotation may be difficult to identify ultrasonically when there are no gross findings such as a missing or misplaced spleen. The basic concept is that there are temporally and spatially critical genetic events early in the first trimester that will result in situs inversus totalis; small variations in timing or spatial localization disrupt normal development in a region or individual organ. The heart has a well-known pattern of looping as it goes from a tube to a four-chamber pattern around six weeks after conception, which makes it particularly vulnerable ...
Cilia (flagella) are important eukaryotic organelles, present in the Last Eukaryotic Common Ancestor, and are involved in cell motility and integration of extracellular signals. Ciliary dysfunction causes a class of genetic diseases, known as ciliopathies, however current knowledge of the underlying mechanisms is still limited and a better characterization of genes is needed. As cilia have been lost independently several times during evolution and they are subject to important functional variation between species, ciliary genes can be investigated through comparative genomics. We performed phylogenetic profiling by predicting orthologs of human protein-coding genes in 100 eukaryotic species. The analysis integrated three independent methods to predict a consensus set of 274 ciliary genes, including 87 new promising candidates. A fine-grained analysis of the phylogenetic profiles allowed a partitioning of ciliary genes into modules with distinct evolutionary histories and ciliary functions ...
Ciliopathy syndromes result from primary cilium dysfunction and are often associated with premature renal failure due to nephronophthisis. While the genetic mutations that underlie a range of ciliopathies have been identified, the link between these genes and disease phenotypes remain elusive. Mutations in the gene encoding the large centrosomal protein CEP290 are associated with several ciliopathies, including Joubert syndrome (JS). CEP290 localizes to the centrosome and the base of the primary cilium; however, it is also found within the nucleus, where its function is largely unknown. Gisela Slaats and colleagues at the University Medical Center Utrecht have demonstrated that loss of CEP290 induces DNA damage response signaling, DNA breaks, and replication stress in the kidney. Compared to cells from a healthy donor, renal epithelial cells isolated from a patient with CEP290-asssociated JS had increased DNA damage signaling and decreased CEP290. Moreover, CEP290 depletion in human and murine ...
Surface view of ciliated epithelium lining a section of a bronchus. The ciliated epithelium is broken up by several goblet cells and short microvilli. - Stock Image C005/8085
Principal Investigator:MINAMI YASUHIRO, Project Period (FY):2011-04-01 - 2016-03-31, Research Category:Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area), Project Area:Regulation of polarity signaling during morphogenesis, remodeling, and breakdown of epithelial tubular structure
Motile cilia provide propulsion, and immotile ones are enriched with receptors. Both are required to establish left-right identity in the developing embryo and are also implicated in a wide range of human diseases. Abnormalities in cilial function underlie heterotaxy congenital heart disease (CHD) occurring in individuals with laterality disturbance. Mitochondrial function and cellular energetics, through mTOR and autophagy, are now linked with cilial function, revealing new mechanisms and candidate genes for syndromic human disease. In the current issue of the JCI, Burkhalter et al. ask the question: Can mitochondrial disturbances produce ciliopathy and does this explain some cases of heterotaxy?. ...
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Expression of DNAH9 (DNAH17L, Dnahc9, DNAL1, DYH9, HL-20, HL20, KIAA0357) in human tissue. Overview of the antibody staining with HPA052641 in immunohistochemistry
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Chronic infection with P aeruginosa is associated with reduced survival, worsening lung function and increased morbidity. Strategies to reduce the incidence of chronic P aeruginosa infection are key components of CF care.. The use of serological testing to detect antibodies to P aeruginosa has been used extensively in paediatric practice where many patients are unable to produce sputum regularly. Douglas and colleagues compared the diagnostic value of serology with the culture of bronchoalveolar lavage fluid as part of two separate observational studies in young children.36 In a combined population of 131 patients, serology had an extremely low positive predictive value of between 0.23 and 0.43, rendering it unsuitable for the diagnosis of P aeruginosa infection. A high negative predictive value of ≥0.94 was seen, however, suggesting that serology may still have a role as a screening test for P aeruginosa.. A potential source of pathogens such as P aeruginosa in CF is the patients own upper ...
The aim of this book is to present some recent and interesting findings in the field of bronchitis, which will serve as a supplement to the book Bronchitis. In particular this volume focuses on the successful use and development of novel tools in the diagnostics and treatment of bronchitis. Contributions include clinical case studies, the impact of air pollution on bronchitis, the presentation and diagnosis of the respiratory disease eosinophilic bronchiolitis, primary ciliary dyskinesia, the development of a method for the swift detection of the infectious bronchitis virus and studies investigating the successful use of alternative medicines in the treatment of bronchitis ...
Table of Contents. Table of Contents 2. List of Tables 5. List of Figures 6. Introduction 7. Global Markets Direct Report Coverage 7. Dyskinesia Overview 8. Therapeutics Development 9. Pipeline Products for Dyskinesia - Overview 9. Pipeline Products for Dyskinesia - Comparative Analysis 10. Dyskinesia - Therapeutics under Development by Companies 11. Dyskinesia - Therapeutics under Investigation by Universities/Institutes 14. Dyskinesia - Pipeline Products Glance 15. Late Stage Products 15. Clinical Stage Products 16. Early Stage Products 17. Dyskinesia - Products under Development by Companies 18. Dyskinesia - Products under Investigation by Universities/Institutes 21. Dyskinesia - Companies Involved in Therapeutics Development 22. Adamas Pharmaceuticals, Inc. 22. Addex Therapeutics Ltd 23. Advicenne 24. Astraea Therapeutics, LLC 25. Bionomics Limited 26. Catalyst Biosciences, Inc. 27. Catalyst Pharmaceuticals, Inc. 28. Clevexel Pharma SAS 29. Contera Pharma ApS 30. EpiVax, Inc. 31. Heptares ...
Joubert Syndrome and related disorders (JSRD) are a group of autosomal recessive conditions characterized by a distinctive hindbrain malformation (the m...
The Joubert Syndrome & Related Disorders Foundation is an international network of parents who share knowledge, experience, & emotional support.
A major focus of the lab is the study of the primary cilium, a once-obscure cellular organelle that has recently been "re-discovered" for its role in a number of signaling pathways (Hedgehog, Planar Cell Polarity, PDGF,..). Most fascinatingly, molecular defects in cilium biogenesis lead to a variety hereditary disorders (so-called "ciliopathies") characterized by retinal degeneration, kidney cysts, obesity, polydactyly, randomization of left-right asymmetry, etc. Our goal is to characterize these ciliopathies at the molecular and cellular levels using state-of-the art proteomics and microscopy. Our approach has already proven successful in the case of Bardet-Biedl Syndrome (see figure) and led to the discovery of a protein complex involved in vesicular transport to the primary cilium. ,nonwikionly,,a href="http://www.openwetware.org",,img src="http://openwetware.org/images/9/96/02_JoinOpenWetWare.png" border=0/,,/a,,/nonwikionly, ...
Nephronophthisis (NPHP) is a recessive form of cystic kidney disease that is the most frequent genetic cause of chronic renal failure in children (Wolf and Hildebrandt, 2011). To date, 18 causative human genes for NPHP have been reported (Wolf and Hildebrandt, 2011; Failler et al., 2014; Renkema et al., 2014); one of these is NPHP4, which encodes nephrocystin-4 (NPHP4). Mutations in NPHP4 lead to juvenile NPHP type 4 as well as retinitis pigmentosa; both disease features occur together in Senior-Løken syndrome (Hoefele et al., 2005; Mollet et al., 2002; Otto et al., 2002; Schuermann et al., 2002).. NPHP and Senior-Løken syndrome are ciliopathies (diseases caused by defects in cilia), and there is abundant evidence from model systems that loss of NPHP4 causes a ciliary phenotype. A study of Nphp4-mutant mice has shown that Nphp4 is necessary for normal photoreceptor formation and maintenance as well as sperm development (Won et al., 2011). In zebrafish, nphp4 morphants exhibit classic ciliary ...
IRB Barcelona identifies GEMC1 as a master gene for the generation of multiciliated cells -- cells with fine filaments that move fluids and substances -- which are found exclusively in the brain, respiratory tract, and reproductive system. Defects in multiciliated cells lead to ciliopathies -- rare and complex diseases that are poorly understood and for which not all causative genes have been identified.
Expression of DNAH9 (DNAH17L, Dnahc9, DNAL1, DYH9, HL-20, HL20, KIAA0357) in rectum tissue. Antibody staining with HPA052641 in immunohistochemistry.
This study employed the use of Western blot and found that the ratio of expression (p-Erk/Erk) in AD patients was higher for B-lymphocytes and fibroblasts versus AC patients. The Western blot findings for the B-lymphocytes were confirmed with FACS for 5 cell lines (2 AD, 3 AC) and found the ratio of p-Erk/Erk expression to be higher in AD. This study also examined p-Erk1 and p-Erk2 separately to determine if there was a difference in expression between these two similar proteins and found p-Erk1/p-Erk2 expression to be higher on average in AD patients vs. AC. Akt was also examined due to its role as a cell cycle regulator and it was found that p-Akt/Akt expression ratio was lower in AD when compared to AC although it was not as large of a difference as p-Erk/Erk expression ratio.. Expanding the Ciliopathy Spectrum: An Analysis of KIF7 CL Bennett, EE Davis, A Putoux, S Thomas, K Coene, N Elkhartoufi, M Winey, P Beales, T Attie-Bitach, N Katsanis. Duke University School of Medicine KIF7, the human ...
39: A method of treating cystic fibrosis, sinusitis, otitis media, ventilator associated pneumonia, chronic bronchitis, chronic obstructive pulmonary disorder, primary ciliary dyskinesia, asthma, bronchiectasis, post-operative atelectasis, Kartageners syndrome, dry mouth, mouth ulcer, gum disease, mycositis, gastro-esophageal reflux disease, peptic ulcer, heartburn, esophagitis, Sjogrens syndrome, inflammatory bowel disease, gastrointestinal problems caused by radiation or chemotherapy for cancer, or a disease associated with expression or activity of a P2Y receptor in a subject, comprising administering to a subject in need thereof a therapeutically effective amount of a compound of formula IIA: ##STR00098## or enantiomers, diastereomers, enantiomerically enriched mixtures, racemic mixtures, crystalline forms, non-crystalline forms, amorphous forms, or pharmaceutically acceptable salts thereof, wherein: A, D, and E are independently N, C(R5), or CH; F is N or C(R4); R1 is an H, oxo, lower ...
Researchers at Washington University School of Medicine in St. Louis report they have solved that puzzle: The nonmotor proteins are like factory workers who put the motor together. Mutations cause these proteins to assemble the motor incorrectly.. The findings are available in Proceedings of the National Academy of Sciences.. "Whats unique is that these failed motors actually have all their parts, and they are fully formed and normal," said senior author Steven Brody, MD, the Dorothy R. and Hubert C. Moog Professor of Pulmonary Medicine and a professor of radiology. "Its like a machine thats missing just one screw: Everything just falls apart. If we can find a way to hold the motor together, we may be able to treat the disease. This opens a whole new opportunity to screen for medications.". Primary ciliary dyskinesia affects about one in 15,000 people. Mutations in more than 40 genes have been linked to the disease. Along with recurring respiratory infections, the disease also can cause ...
Our goal was to determine the direction of force generation of the inner dynein arms in flagellar axonemes. We developed an efficient means of extracting the outer row of dynein arms in demembranated sperm tail axonemes, leaving the inner row of dynein arms structurally and functionally intact. Sperm tail axonemes depleted of outer arms beat at half the beat frequency of sperm tails with intact arms over a wide range of ATP concentrations. The isolated, outer arm-depleted axonemes were induced to undergo microtubule sliding in the presence of ATP and trypsin. Electron microscopic analysis of the relative direction of microtubule sliding (see Sale, W. S. and P. Satir, 1977, Proc. Natl. Acad. Sci. USA, 74:2045-2049) revealed that the doublet microtubule with the row of inner dynein arms, doublet N, always moved by sliding toward the proximal end of the axoneme relative to doublet N + 1. Therefore, the inner arms generate force such that doublet N pushes doublet N + 1 tipward. This is the same ...
Pathogenic variants (mutations) in the Abelson helper integration site 1 (AHI1) gene are known to be associated with Joubert syndrome, a developmental disorder causing visual, cognitive and motor deficits. In this study, we show that some pathogenic variants in the AHI1 gene can cause visual impairment, without other symptoms or signs suggestive of Joubert syndrome. Such variants were located in a specific domain (WD40 domain) of the encoded protein and have only subtle effects when expressed in cells in culture. The data support the hypothesis that these "non-syndromic" variants give residual protein function, while alleles associated with Joubert syndrome completely abolish function. (By Dr. Lonneke Haer-Wigman, http://jmg.bmj.com/content/early/2017/04/25/jmedgenet-2016-104200 ...
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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...

Motility can be evaluated by light-microscopic examination of living cilia or spermatozoa and the functional capacity of cilia ... The immotile cilia syndrome is a genetically determined disorder characterized by dysmotility or even complete immotility of ... "Immotile Cilia Syndrome (Primary Ciliary Dyskinesia), Including Kartagener Syndrome." The Online Metabolic and Molecular Bases ... 187: Immotile Cilia Syndrome (Primary Ciliary Dyskinesia), Including Kartagener Syndrome Björn A. Afzelius; Björn Mossberg; ...
more infohttp://ommbid.mhmedical.com/content.aspx?bookid=971§ionid=62653323

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 ...
more infohttps://medical-dictionary.thefreedictionary.com/Ciliary+motility+disorders

Search of: primary ciliary dyskinesia OR Ciliary Motility Disorders - List Results - ClinicalTrials.govSearch of: 'primary ciliary dyskinesia' OR 'Ciliary Motility Disorders' - List Results - ClinicalTrials.gov

35 Studies found for: primary ciliary dyskinesia OR Ciliary Motility Disorders. Also searched for Kartagener syndrome and ... Genetic Study of Patients With Primary Ciliary Dyskinesia. *Primary Ciliary Dyskinesia. Observational. *National Center for ... Complementary ciliary investigations in patients with suspected primary ciliary dyskinesia.. 125. All. 1 Month and older (Child ... Otolith Function in Patients With Primary Ciliary Dyskinesia. *Primary Ciliary Dyskinesia. *Other: Vestibular evoked myogenic ...
more infohttps://clinicaltrials.gov/ct2/results?cond=%22primary+ciliary+dyskinesia%22+OR+%22Ciliary+Motility+Disorders%22

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 ...
more infohttps://clinicaltrials.gov/ct2/show/NCT00739817?term=primary+ciliary+dyskinesia&rank=9

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 ...
more infohttps://www.bioportfolio.com/resources/trial/123884/Thalidomide-in-Treating-Patients-With-Myelofibrosis.html

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 ...
more infohttp://www.biomedsearch.com/nih/Homozygosity-mapping-gene-locus-primary/11062149.html

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 ...
more infohttp://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 ...
more infohttps://medicine.yale.edu/stemcell/people/research/therapy.aspx

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing - PubMedAnalysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing - PubMed

Ciliary Motility Disorders / genetics *. Actions. * Search in PubMed * Search in MeSH * Add to Search ... Ciliary defects and genetics of primary ciliary dyskinesia. Escudier E, Duquesnoy P, Papon JF, Amselem S. Escudier E, et al. ... Revisiting Mendelian disorders through exome sequencing. Ku CS, Naidoo N, Pawitan Y. Ku CS, et al. Hum Genet. 2011 Apr;129(4): ... Exome sequencing identifies the cause of a mendelian disorder. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff ...
more infohttps://pubmed.ncbi.nlm.nih.gov/20220176/?from_single_result=R01+HG002939-08%2FHG%2FNHGRI+NIH+HHS%2FUnited+States%5BGrant+Number%5D&expanded_search_query=R01+HG002939-08%2FHG%2FNHGRI+NIH+HHS%2FUnited+States%5BGrant+Number%5D

Carlo Iomini - Fingerprint
     - Johns Hopkins UniversityCarlo Iomini - Fingerprint - Johns Hopkins University

Ciliary Motility Disorders Basal Bodies Fibroblasts Catenins Exfoliation Syndrome Scanning Transmission Electron Microscopy ...
more infohttps://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 ...
more infohttps://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 ...
more infohttps://mayoclinic.pure.elsevier.com/en/organisations/internal-medicine/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle&page=3

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 ...
more infohttps://ocr.yale.edu/browse-faculty?page=7

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, ...
more infohttps://statpearls.com/as/growth%20and%20development/28415/

TargetsTargets

Ciliary Dyskinesia, Primary, 1. 4 , 27 Ciliary Motility Disorders. 4 , 38 Joubert syndrome. 4 , 66 ...
more infohttps://pharos.nih.gov/idg/targets?facet=Compartment+GO+Term/Axonemal+outer+doublet&order=$knowledgeAvailability

TargetsTargets

Ciliary Motility Disorders. 3 , 6 Kidney cancer. 3 , 121 atypical teratoid / rhabdoid tumor. 3 , 4,369 ...
more infohttps://pharos.nih.gov/idg/targets?facet=GO+Process/cilium+movement

SelfDecode | Genome AnalysisSelfDecode | Genome Analysis

Chronobiology Disorders PPARG. Ciliary Dyskinesia, Primary, 7 DNAH11. Ciliary Motility Disorders IFT122. ...
more infohttps://www.selfdecode.com/molecular-function/GO:0007507/

Find Research Outputs
             - Discovery - the University of Dundee Research PortalFind Research Outputs - Discovery - the University of Dundee Research Portal

Primary ciliary dyskinesia in the genomics age. Lucas, J. S., Davis, S. D., Omran, H. & Shoemark, A., Feb 2020, In : The Lancet ... Prevalence of Sleep-Disordered Breathing and Associations With Malocclusion in Children. Aroucha Lyra, M. C., Aguiar, D., Paiva ...
more infohttps://discovery.dundee.ac.uk/en/publications/?showAdvanced=false&allConcepts=true&inferConcepts=true&originalSearch=&improvedLayoutOrganisationUuid=&format=&page=7

Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.  - PubMed - NCBIVariation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis. - PubMed - NCBI

ciliary motility disorders; cystic fibrosis; genetic association studies; respiratory function tests. PMID:. 29323929. PMCID:. ... Cystic fibrosis, like primary ciliary dyskinesia, is an autosomal recessive disorder characterized by abnormal mucociliary ...
more infohttps://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=huge&id=178865

Schmid, A.<...Schmid, A.<...

... common variable immunodeficiency and primary ciliary dyskinesia-Results from the U.S. bronchiectasis research registry. Eden, E ...
more infohttps://miami.pure.elsevier.com/en/persons/andreas-schmid

Mustafa Tekin - Research Output
     - University of Miamis Research ProfilesMustafa Tekin - Research Output - University of Miami's Research Profiles

A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia. Fan ... De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, ... Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and ...
more infohttps://miami.pure.elsevier.com/en/persons/mustafa-tekin/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle&ordering=publicationYearThenTitle&descending=true

Recent questions in Tinnitus - lookformedical.comRecent questions in Tinnitus - lookformedical.com

A nonspecific symptom of hearing disorder characterized by the sensation of buzzing, ringing, clicking, pulsations, and other ... Ciliary Motility Disorders (0) * Ear Diseases (1) * Cholesteatoma, Middle Ear (0) * Ear Deformities, Acquired (0) ...
more infohttps://lookformedical.com/answers/en/questions/diseases/otorhinolaryngologic-diseases/ear-diseases/hearing-disorders/tinnitus

Search Articles | University of Toronto LibrariesSearch Articles | University of Toronto Libraries

Ciliary Motility Disorders - metabolism , Retina - pathology , Microscopy, Fluorescence , Cell proliferation , Brain , Joubert ... Ciliary Motility Disorders - metabolism , Proteins - chemistry , Neural Tube - embryology , Neural Tube - abnormalities , Index ... Ciliary Motility Disorders - pathology , Proteins - metabolism , Encephalocele - pathology , Neural Tube - ultrastructure , ... Ciliary Motility Disorders - pathology , Encephalocele - pathology , Eye Abnormalities - pathology , Retina - abnormalities , ...
more infohttps://query.library.utoronto.ca/index.php/search/q?kw=SubjectTerms:Cilia%20-%20pathology
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  • 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)
  • 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)
  • Family-based genome analysis enabled us to narrow the candidate genes for both of these Mendelian disorders to only four. (nih.gov)