Ciliary Motility Disorders
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
Purinergic Agents
Ependyma
Kartagener Syndrome
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
Cyclic Nucleotide-Regulated Protein Kinases
Esophageal Achalasia
Interstitial Cells of Cajal
Dyneins
Mucociliary Clearance
Peristalsis
Intestinal Pseudo-Obstruction
Esophagus
Gastroparesis
Chlamydomonas reinhardtii
Trachea
Gastrointestinal Diseases
Sperm Motility
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
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
Domperidone
Constipation
Anti-Dyskinesia Agents
Esophagogastric Junction
Deglutition
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
Gastroesophageal Reflux
Gastrointestinal Tract
Stomach
Muscle Contraction
Pressure
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
Mental Disorders
Diagnostic and Statistical Manual of Mental Disorders
Regulation of mucociliary clearance in health and disease. (1/140)
Airway secretions are cleared by mucociliary clearance (MCC), in addition to other mechanisms such as cough, peristalsis, two-phase gas-liquid flow and alveolar clearance. MCC comprises the cephalad movement of mucus caused by the cilia lining the conducting airways until it can be swallowed or expectorated. MCC is a very complex process in which many variables are involved, all of which may modify the final outcome. The structure, number, movement and co-ordination of the cilia present in the airways as well as the amount, composition and rheological properties of the periciliary and mucus layers are determinants of MCC. Physiological factors such as age, sex, posture, sleep and exercise are reported to influence MCC due to a change in the cilia, the mucus or the periciliary layer, or a combination of these. Environmental pollution is suspected to have a depressant effect on MCC dependent on different factors such as pollutant concentration and the duration of exposure. Most studies focus on sulphur dioxide, sulphuric acid, nitrogen dioxide and ozone. Tobacco smoke and hairspray have been noted to have a negative influence on MCC. Some diseases are known to affect MCC, mostly negatively. The underlying mechanism differs from one illness to another. Immotile cilia syndrome, asthma, bronchiectasis, chronic bronchitis, cystic fibrosis and some acute respiratory tract infections are among the most frequently reported. The present paper reviews normal mucociliary clearance and the effects of diseases on this process. (+info)A possible mechanism of primary ciliary dyskinesia: a case of a segmental defect in ciliary microtubules. (2/140)
We report here a 13-year-old woman with cough, sputum and fever. The patient had both chronic sinusitis and bronchitis. Chest X-ray and computed tomographic scan of the chest revealed mucous bronchial filling and bronchiectasia in bronchi of bilateral lower lobes, right middle lobe and left upper lobe. Aerosol inhalation scintigraphy with 99mTechnetium demonstrated delays of the discharged tracer. On the basis of these findings, primary ciliary dyskinesia was suggested. This was confirmed by the findings from nasal biopsy with transmission electron microscopy where all of the microtubules were segmentally defected near the basal body in the cilia. On the basis of these findings, we diagnosed the patient with primary ciliary dyskinesia which may be due, at least in part, to segmental defect of ciliary microtubules. (+info)Nasal and lower airway level of nitric oxide in children with primary ciliary dyskinesia. (3/140)
Exhaled nitric oxide can be detected in exhaled air and is readily measured by chemiluminescence. It is thought to be involved in both the regulation of ciliary motility and host defence. Recently, upper airway NO has been found to be reduced in a small number of children with primary ciliary dyskinesia (PCD) and its measurement has been recommended as a diagnostic test for this condition. The aim of this study was to compare the levels of NO in the upper and lower airways in a larger number of children with proven PCD with those found in healthy children. Exhaled NO was measured in the upper airway by direct nasal sampling during a breath-hold and in the lower airway as the end-tidal plateau level, using a chemiluminescence NO analyser. Upper airway NO levels were significantly lower in PCD (n = 21) than in the healthy children (n = 60) (mean +/-SD, 97+/-193, 664+/-298 parts per billion (ppb), respectively, p<0.0001). In PCD, the lower airway NO levels were also reduced (2.17+/-1.18, 5.94+/-3.49 ppb, respectively, p<0.0001). The levels were not associated with steroid use and did not correlate with lung function. Although there was some overlap between normal children and those with primary ciliary dyskinesia with regard to lower airway NO, nasal NO discriminated between the two groups in all but one child in each group. Measurement of nasal NO therefore may be a useful screening test for primary ciliary dyskinesia. (+info)Asymmetry of cilia and of mice and men. (4/140)
Evidence is given for the opinion that cilia in the early embryo, by their work, determine the laterality of the body; without ciliary work body laterality would be randomized. More exactly, monocilia in the primitive node are responsible for this determination. They have been described as being of the 9+0 type, but with dynein arms and with a gyrating movement. The orientation of the monocilia on the epithelium is of no importance but the direction of their gyration is, as may also be the shape of the node. The chirality of the cilia is thus reflected directly in the asymmetry of the body. The dynein arms go clockwise as seen from the base to tip and the ciliary rotation is in the same direction. The resulting waterflow is towards the left and so is the movement of the forming heart. In most subgroups of the immotile-cilia syndrome this mechanism does not work and equally many individuals will be born with situs inversus as with situs solitus. An exception is the immotile-cilia subgroup, named 'microtubule transposition', which is characterized by all cilia having a 9+0 structure throughout most of their length. (+info)Effects of drugs on mucus clearance. (5/140)
Mucociliary clearance (MCC), the process in which airway mucus together with substances trapped within are moved out of the lungs, is an important defence mechanism of the human body. Drugs may alter this process, such that it is necessary to know the effect of the drugs on MCC. Indeed, agents stimulating MCC may be used therapeutically in respiratory medicine, especially in patients suspected of having an impairment of their mucociliary transport system. In contrast, caution should be taken with drugs depressing MCC as an undesired side-effect, independently of their therapeutic indication. Since cough clearance (CC) serves as a back-up system when MCC fails, the influence of drugs must be examined not only on MCC but also on CC. Ultimately, the clinical repercussions of alterations in mucus transport induced by drug administration must be studied. Tertiary ammonium compounds (anticholinergics), aspirin, anaesthetic agents and benzodiazepines have been shown to be capable of depressing the mucociliary transport system. Cholinergics, methylxanthines, sodium cromoglycate, hypertonic saline, saline as well as water aerosol have been shown to increase MCC. Adrenergic antagonists, guaifenesin, S-carboxymethylcysteine, sodium 2-mercapto-ethane sulphonate and frusemide have been reported not to alter the mucociliary transport significantly. Amiloride, uridine 5'-triphosphate (UTP), quaternary ammonium compounds (anticholinergics), adrenergic agonists, corticosteroids, recombinant human deoxyribonuclease (rhDNase), N-acetylcysteine, bromhexine and ambroxol have been reported either not to change or to augment MCC. Indirect data suggest that surfactant as well as antibiotics may improve the mucociliary transport system. As for the influence of drugs on CC, amiloride and rhDNase have been demonstrated to increase the effectiveness of cough. A trend towards an improved CC was noted after treatment with adrenergic agonists. The anticholinergic agent ipratropium bromide, which is a quaternary ammonium compound, has been suggested to decrease CC significantly. Bromhexine, ambroxol and neutral saline seemed not to alter CC, either positively or negatively. Finally, treatment with either amiloride, recombinant human deoxyribonuclease, bromhexine, ambroxol, N-acetylcysteine, S-carboxymethylcysteine or hypertonic saline has been suggested as a possible cause of clinical improvement in patients, such as the experience of dyspnoea, the case of expectoration or the frequency of infective exacerbations. Other agents did not show a clinical benefit. (+info)Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. (6/140)
Primary ciliary dyskinesia (PCD) is a group of heterogeneous disorders of unknown origin, usually inherited as an autosomal recessive trait. Its phenotype is characterized by axonemal abnormalities of respiratory cilia and sperm tails leading to bronchiectasis and sinusitis, which are sometimes associated with situs inversus (Kartagener syndrome) and male sterility. The main ciliary defect in PCD is an absence of dynein arms. We have isolated the first gene involved in PCD, using a candidate-gene approach developed on the basis of documented abnormalities of immotile strains of Chlamydomonas reinhardtii, which carry axonemal ultrastructural defects reminiscent of PCD. Taking advantage of the evolutionary conservation of genes encoding axonemal proteins, we have isolated a human sequence (DNAI1) related to IC78, a C. reinhardtii gene encoding a dynein intermediate chain in which mutations are associated with the absence of outer dynein arms. DNAI1 is highly expressed in trachea and testis and is composed of 20 exons located at 9p13-p21. Two loss-of-function mutations of DNAI1 have been identified in a patient with PCD characterized by immotile respiratory cilia lacking outer dynein arms. In addition, we excluded linkage between this gene and similar PCD phenotypes in five other affected families, providing a clear demonstration of locus heterogeneity. These data reveal the critical role of DNAI1 in the development of human axonemal structures and open up new means for identification of additional genes involved in related developmental defects. (+info)A locus for primary ciliary dyskinesia maps to chromosome 19q. (7/140)
Primary ciliary dyskinesia is an autosomal recessive condition characterised by chronic sinusitis, bronchiectasis, and subfertility. Situs inversus occurs in 50% of cases (Kartagener syndrome). It has an estimated incidence of 1 in 20 000 live births. The clinical phenotype is caused by defective ciliary function associated with a range of ultrastructural abnormalities including absent dynein arms, absent radial spokes, and disturbed ciliary orientation. The molecular genetic basis is unknown. A genome scan was performed in five Arabic families. Using GENEHUNTER, a maximal multipoint lod score (HLOD) of 4.4 was obtained on chromosome 19q13.3-qter at alpha (proportion of linked families) = 0.7. A 15 cM critical region is defined by recombinations at D19S572 and D19S218. These data provide significant evidence for a PCD locus on chromosome 19q and confirm locus heterogeneity. (+info)Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity. (8/140)
Primary ciliary dyskinesia (PCD), or immotile cilia syndrome (ICS), is an autosomal recessive disorder affecting ciliary movement with an incidence of 1 in 20000-30000. Dysmotility to complete immotility of cilia results in a multisystem disease of variable severity with recurrent respiratory tract infections leading to bronchiectasis and male subfertility. Ultrastructural defects are present in ciliated mucosa and spermatozoa. Situs inversus (SI) is found in about half of the patients (Kartagener syndrome). We have collected samples from 61 European and North American families with PCD. A genome-wide linkage search was performed in 31 multiplex families (169 individuals including 70 affecteds) using 188 evenly spaced (19cM average interval) polymorphic markers. Both parametric (recessive model) and non-parametric (identity by descent allele sharing) linkage analyses were used. No major locus for the majority of the families was identified, although the sample was powerful enough to detect linkage if 40% of the families were linked to one locus. These results strongly suggest extensive locus heterogeneity. Potential genomic regions harbouring PCD loci were localised on chromosomes 3p, 4q, 5p, 7p, 8q, 10p, 11q, 13q, 15q, 16p, 17q and 19q. Linkage analysis using PCD families with a dynein arm deficiency provided 'suggestive' evidence for linkage to chromosomal regions 8q, 16pter, while analyses using only PCD families with situs inversus resulted in 'suggestive' scores for chromosomes 8q, and 19q. (+info)
Immotile Cilia Syndrome Greatly Affects Ciliary Motion | Health Watch Center
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Science Researcher Update | Ciliopathies
Horse Aid First Aid Kit Creative Pet Products - First Aid | Health Care | Equine
eHALOPH - Halophytes Database
Immotile Cilia Syndrome (Primary Ciliary Dyskinesia), Including Kartagener Syndrome | The Online Metabolic and Molecular Bases...
Kartagener Syndrome | Syndromes: Rapid Recognition and Perioperative Implications | AccessAnesthesiology | McGraw-Hill Medical
Full text] Primary ciliary dyskinesia: mechanisms and management | TACG
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure | Thorax
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects<...
Primary Ciliary Dyskinesia of Old English Sheepdog (Bobtail) | Antagene
Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide - Full Text View - ClinicalTrials.gov
Monocytes from patients with Primary Ciliary Dyskinesia show enhanced inflammatory properties and produce higher levels of pro...
Primary ciliary dyskinesia - Wikipedia
Primary Ciliary Dyskinesia (DNAI2-related) (DNAI2) - Sema4
Otolith Function in Patients With Primary Ciliary Dyskinesia - Full Text View - ClinicalTrials.gov
Primary ciliary dyskinesia | Archives of Disease in Childhood
The cell biological basis of ciliary disease | JCB
Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein...
Primary Ciliary Dyskinesia Diagnosis and Treatment
Meckel-Gruber syndrome - Wikipedia
Mutations in TMEM231 cause Meckel-Gruber syndrome | Journal of Medical Genetics
Work supportet by the Foundation - Fondation Milena Carvajal - Pro-Kartagener
Proceedings of the COST action BM1407 inaugural conference BEAT-PCD: translational research in primary ciliary dyskinesia -...
Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton - ePrints Soton
PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia | European Respiratory Society
Lung clearance index and high-resolution computed tomography scores in primary ciliary dyskinesia. - PubMed - NCBI
Primary Ciliary Dyskinesia via the DNAAF3 Gene - PreventionGenetics
Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. - PubMed - NCBI
Kartagener-syndromás no kiviselt ikerterhessége<...
The transition zone: an essential functional compartment of cilia | Cilia | Full Text
Bridgets story | Lung Foundation Australia
Kartagener Syndrome
JCI -
Citations to Eupatilin rescues ciliary transition zone defects to ameliorate ciliopathy-related phenotypes
JCI -
Eupatilin rescues ciliary transition zone defects to ameliorate ciliopathy-related phenotypes
Joubert and Meckel-Gruber Syndromes via the CC2D2A Gene - PreventionGenetics
PCD - Theres More to the Story - Running On Air
Research Spotlights Digest | Minnesota Supercomputing Institute
Professor Daniel Peckham - Google Scholar
Return of the Small Family Study? Whole-Genome Analysis Shows Power | ALZFORUM
DISQUINESIA CILIAR PRIMARIA PDF
Fellow Publications
Publikationen PD Dr. med. Jan Halbritter
MKS1 Gene - GeneCards | MKS1 Protein | MKS1 Antibody
CCDC53抗体|Abcam中国|Anti-CCDC53抗体
CCDC80抗体|Abcam中国|Anti-CCDC80抗体
Meckel-Gruber syndrome | definition of Meckel-Gruber syndrome by Medical dictionary
Kartagener Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Kartagener syndrome
primary ciliary dyskinesia 9 Disease Ontology Browser - DOID:0110622
ARMC4</i> mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry...
Primary ciliary dyskinesia definition | Drugs.com
Meckel syndrome
Mutagenetix > Incidental...
Peadar Noone, MD FCCP FRCPI DCH MRCGP | Department of Medicine
Primary ciliary dyskinesia - Royal Brompton & Harefield NHS Foundation Trust
Doctor
Hydrocephalus and primary ciliary dyskinesia. | Archives of Disease in Childhood
Questions to Ask Your Doctor About Primary Ciliary Dyskinesia | American Lung Association
Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia | BESTCILIA Project | FP7 | CORDIS | European...
Primary ciliary dyskinesia service - Royal Brompton & Harefield NHS Foundation Trust
immunohistochemistry - Annotations
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via...
Clinical application of fractional exhaled nitric oxide and nasal nitric oxide levels for the assess eosinophilic inflammation...
Pathogenesis of PCD Lung Disease - Michael Knowles
Solkysten Old English Sheepdog - PCD på Old English Sheepdog
Programme
General Information
Jeremy Reiter, MD, PhD | Biomedical Sciences Graduate Program
CILIARY FUNCTION AND DIFFERENTIATION OF AIRWAY EPITHELIA
- University of Miamis Research Profiles
HKU Scholars Hub: Ciliary abnormalities in idiopathic bronchiectasis
Brunel University Research Archive: Cilia-mediated signalling in the embryonic nodes: A computational fluid-structure-protein...
Permalien vers [The importance of model organisms to study cilia and flagella biology]
B9 domain-containing protein 1
Mutagenetix > Incidental...
Brain Dysplasia Associated with Ciliary Dysfunction in Infants with Congenital Heart Disease | Department of Biomedical...
Analysis of human samples reveals impaired SHH-dependent cerebellar (...) - ENS - Départment de biologie
Is obesity a ciliopathy, triggered by malfunctioning primary cilia?
Iris View Profile
Retinal degeneration associated with transition zone protein MKS6 | IOVS | ARVO Journals
A liquid-like organelle at the root of motile ciliopathy | eLife
Genetics again - How interesting! | Renée MacLachlans Blog
NTNU Open
Stupid question but..: I have... - PCD Family Suppor...
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. Cite journal requires ,journal= (help) Blanchon S, Legendre M, Copin B, Duquesnoy P ... "Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia". Journal of Medical ...
Bronchiectasis
Another genetic cause is primary ciliary dyskinesia, a rare disorder that leads to immotility of cilia and can lead to situs ... Bronchiectasis may result from congenital disorders that affect cilia motility or ion transport. A common genetic cause is ... It is a genetic disorder that affects the lungs, but also the pancreas, liver, kidneys, and intestine. It is caused by ... Impairments in host defenses that lead to bronchiectasis may be congenital, such as with primary ciliary dyskinesia, or ...
Primary ciliary dyskinesia
... (PCD), is a rare, ciliopathic, autosomal recessive genetic disorder that causes defects in the ... which give cilia their motility, with roughly 38% of these defects caused by mutations on two genes, DNAI1 and DNAH5, both of ... The phrase "immotile ciliary syndrome" is no longer favored as the cilia do have movement, but are merely inefficient or ... Coren, M. E; Meeks, M; Morrison, I; Buchdahl, R. M; Bush, A (2002). "Primary ciliary dyskinesia: Age at diagnosis and symptom ...
Ciliopathy
A number of common observable characteristics of mammalian genetic disorders and diseases are caused by ciliary dysgenesis and ... sometimes coupling the signaling to ciliary motility or alternatively to cell division and differentiation." Recent advances in ... or ciliary function. Primary cilia are important in guiding the process of development, so abnormal ciliary function while an ... which localizes to mitochondria but is believed to affect ciliary function through proteolytic cleavage of ciliary proteins. ...
Cilium
... can cause chronic disorders such as primary ciliary dyskinesia (PCD), nephronophthisis or Senior-Løken syndrome. In addition, a ... sometimes coupling the signaling to ciliary motility or alternatively to cell division and differentiation." The cilium is ... The building blocks of the ciliary axoneme, such as tubulins, are added at the ciliary tips through a process that depends ... Two of the basal body's triplet microtubules extend to become the doublet microtubules of the ciliary axoneme. The ciliary ...
Intraflagellar transport
1993). "A motility in the eukaryotic flagellum unrelated to flagellar beating". Proc Natl Acad Sci U S A. 90 (12): 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 ( ...
DNAH5
... an autosomal recessive disorder.4 This X-linked disorder is characterized by recurrent respiratory infections, infertility, and ... 2006). "DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects". Am. J. Respir. Crit. ... 1997). "Multiple mouse chromosomal loci for dynein-based motility". Genomics. 36 (1): 29-38. doi:10.1006/geno.1996.0422. PMID ... "Entrez Gene: DNAH5 dynein, axonemal, heavy chain 5". GeneReviews/NIH/NCBI/UW entry on Primary Ciliary Dyskinesia Jouannet P, ...
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
... (CPEO), is a type of eye disorder characterized by slowly progressive inability to ... The progressive ophthalmoplegia is often unnoticed till decreased ocular motility limits peripheral vision. Often someone else ... The ciliary muscles that control the lens shape and the iris muscles are often unaffected by CPEO. Additional symptoms are ... Zeviani M, Di Donauto S (2004). "Mitochondrial disorders". Brain. 127 (10): 2153-2172. doi:10.1093/brain/awh259. PMID 15358637 ...
Ciliogenesis
This requires an active mechanism that maintains ciliary length. Impairments in these mechanisms can affect the motility of the ... Badano, J.; Mitsuma, N.; Beales, P.; Katsanis, N. (2006). "The ciliopathies: An emerging class of human genetic disorders". ... 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 ...
Hydrolethalus syndrome
KIF7 encodes a structural factor vital to cilial transport, and is also implicated in other developmental disorders, such as ... Cilia are microscopic projections that allow sensory input and signalling output within cells, as well as cell motility. ... Takao D, Verhey K (January 2016). "Gated entry into the ciliary compartment". Cellular and Molecular Life Sciences. 73 (1): 119 ... Hydrolethalus syndrome (HLS) is a rare genetic disorder that causes improper fetal development, resulting in birth defects and ...
Infertility
These include endocrine disorders (usually due to hypogonadism) at an estimated 2% to 5%), sperm transport disorders (such as ... In both men and women, ASA production are directed against surface antigens on sperm, which can interfere with sperm motility ... Infertility associated with viable, but immotile sperm may be caused by primary ciliary dyskinesia. The sperm must provide the ... Ovulatory disorders make up 25% of the known causes of female infertility. Oligo-ovulation or anovulation results in ...
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 ... The motility of a nonintegrated artificial eye may be caused by at least two forces. (1) The rubbing force between the ...
Astrocyte
... which underlies certain psychiatric disorders such as autism spectrum disorders and schizophrenia. Under normal conditions, ... On the other hand, human glial precursor cells and astrocytes generated from these cells by being in contact with ciliary ... "Astrocytes in the hindbrain detect glucoprivation and regulate gastric motility". Autonomic Neuroscience. 175 (1-2): 61-9. doi: ... Astrocytes have emerged as important participants in various neurodevelopmental disorders. This view states that astrocyte ...
CASS4
... migration and motility. Unusually, CASS4 depletion had a bimodal affect, causing some cells to have lower velocity and others ... and ciliary resorption;[32] it is possible that CASS4 may similarly interact with aurora-A kinase. ... "Adaptors for disorders of the brain? The cancer signaling proteins NEDD9, CASS4, and PTK2B in Alzheimer's disease" ... in regulation of cellular motility and migration.[13] Because of the high degree of homology in interaction domains and some ...
Santosh G. Honavar
S2CID 21218744.CS1 maint: multiple names: authors list (link) Javed Ali M, Honavar S (2010). "Ophthalmic disorders in adult ... PMID 23271885.CS1 maint: multiple names: authors list (link) Ali MJ, Honavar SG, Vemuganti GK (2013). "Ciliary body ... "New measurement device and technique for assessing implant and prosthetic motility". Ophthalmic Plast Reconstr Surg. 23 (1): 59 ... "Leucocoria as the presenting sign of a ciliary body melanoma in a child". Br J Ophthalmol. 85 (1): 115-6. doi:10.1136/bjo.85.1. ...
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 that ...
CUX1
"Loss of heterozygosity in 7q myeloid disorders: clinical associations and genomic pathogenesis". Blood 2012, 119(25):6109-17. ... a Ciliary Gene Vicinal to the FTO Locus, Causes Increased Adiposity in Mice". Cell Metabolism. 19 (5): 767-779. doi:10.1016/j. ... signaling that enhances cancer cell motility and invasiveness". Cancer Cell 2005, 7(6):521-32. Ripka S, Neesse A, Riedel J, Bug ...
Alpha-2 adrenergic receptor
The relaxation of gastrointestinal tract motility is by presynaptic inhibition, where transmitters inhibit further release by ... Retrieved 27 November 2013.[full citation needed] National Institute of Neurological Disorders and Stroke (2002). " ... Decreased aqueous humor fluid production from the ciliary body The α subunit of an inhibitory G protein - Gi dissociates from ... vasodilatory effect from β2 receptors Constriction of some vascular smooth muscle Venoconstriction of veins Decrease motility ...
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 ...
Astrocyte
Neurodevelopment disordersEdit. A relatively new direction has emerged in the field of neurodevelopmental disorders. This view ... On the other hand, human glial precursor cells and astrocytes generated from these cells by being in contact with ciliary ... "Astrocytes in the hindbrain detect glucoprivation and regulate gastric motility". Autonomic neuroscience : basic & clinical ... including the autism spectrum disorders (ASDs) and schizophrenia.[44][45] ...
Surgery
It has been linked to many disorders such as obesity hypoventilation syndrome, atelectasis and pulmonary embolism, adverse ... Iris, ciliary body,. sclera, and anterior chamber. *Glaucoma surgery: Trabeculectomy. *Iridectomy. Lens. *Phacoemulsification ... Esophageal motility study. Stomach. *Bariatric surgery *Adjustable gastric band. *Endoscopic sleeve gastroplasty ...
Floater
... s are deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, ... Disorders of vitreous body and globe. Hidden categories: *Webarchive template wayback links ...
Ciliary 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 ...
Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents - Full Text View -...
Ciliary Motility Disorders. Kartagener Syndrome. Movement Disorders. Central Nervous System Diseases. Nervous System Diseases. ... Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax. 2012 May;67(5):433- ... Genetic Disorders of Mucociliary Clearance Consortium. Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia ... Primary Ciliary Dyskinesia. 2007 Jan 24 [updated 2015 Sep 3]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford ...
Screening 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 ...
Thalidomide 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 ...
Ciliary dysfunction in developmental abnormalities and diseases
Ciliary Motility Disorders / physiopathology* * Congenital Abnormalities / physiopathology* * Humans * Kidney Diseases / ... Ciliary dysfunction in developmental abnormalities and diseases Curr Top Dev Biol. 2008;85:371-427. doi: 10.1016/S0070-2153(08) ... The connection between disease and developmental defects due to the loss of ciliary function has brought the efforts of the ... Dysfunction of the cilium is the basis for multiple human genetic disorders that have collectively been called the ciliopathies ...
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 ...
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
... a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis ... Ciliary Motility Disorders / genetics* * Ciliary Motility Disorders / metabolism * Ciliary Motility Disorders / pathology ... The PRPFs localize to the connecting cilium, and PRPF8- and PRPF31-mutated cells have ciliary defects. Combining the screen ... Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole- ...
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Frontiers | Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies |...
Adjunctive tests include genetic analysis and repeated tests in ciliary culture specimens. There are currently 33 known genes ... Adjunctive tests include genetic analysis and repeated tests in ciliary culture specimens. There are currently 33 known genes ... characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10.000 to 1:20.000 live-born children, but ... characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10.000 to 1:20.000 live-born children, but ...
Ciliary - definition of ciliary by The Free Dictionary
ciliary synonyms, ciliary pronunciation, ciliary translation, English dictionary definition of ciliary. adj. 1. Of, relating to ... 2. Of or relating to the ciliary body and associated structures of the eye. American Heritage® Dictionary of... ... Kartageners syndrome is a type of ciliary motility disorder called primary ciliary dyskinesia.. KARTAGENERS SYNDROME--CASE ... Aqueous humor is produced in the ciliary processes of the ciliary bodies by two mechanisms - by active secretion (80%) and ...
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An international registry for primary ciliary dyskinesia | European Respiratory Society
... is a rare autosomal recessive disorder of ciliary motility resulting in chronic upper- and lower-airway disease. Organ ... Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder leading to chronic upper and lower airway disease. ... CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in ... Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. Eur Respir J 2014; 44: 1579-1588. ...
US6387886B1 - Method for the treatment of severe chronic bronchitis (bronchietasis) with an aerosolized antibiotic
-...
These causes may include ciliary motility disorders and cystic fibrosis (CF), or processes that cause persistent damage, such ... Treatment of ocular diseases and disorders using lantibiotic compositions US20060035811A1 (en) * 2002-10-18. 2006-02-16. Luis ... Treatment of ocular diseases and disorders using lantibiotic compositions US20080139462A1 (en) * 2004-05-06. 2008-06-12. Luis ... Method for treating pulmonary disorders with liposomal amikacin formulations Gibson et al. 2006. Microbiology, safety, and ...
CCDC40 - ddPCR Primer Pair - EvaGreen - Digital PCR | PrimePCR | Bio-Rad
CCDC40 (gene) - Wikipedia
Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing ... "Primary Ciliary Dyskinesia". PMID 20301301. Cite journal requires ,journal= (help) Blanchon S, Legendre M, Copin B, Duquesnoy P ... "Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia". Journal of Medical ...
JoVE | Peer Reviewed Scientific Video Journal - Methods and Protocols
Ciliary Motility Disorders, Animal Experimentation, Microscopy, Fluorescence, Interference, Polarization, Video, Airway, ... This allows imaging of ciliary motion in the profile view along the entire tracheal length. Videos at 200 frames/sec are ... Ex vivo Method for High Resolution Imaging of Cilia Motility in Rodent Airway Epithelia ... contrast microscopy and a high speed digital camera to allow quantitative analysis of cilia beat frequency and ciliary waveform ...
JoVE | Peer Reviewed Scientific Video Journal - Methods and Protocols
Ciliary Motility Disorders, Animal Experimentation, Microscopy, Fluorescence, Interference, Polarization, Video, Airway, ... This allows imaging of ciliary motion in the profile view along the entire tracheal length. Videos at 200 frames/sec are ... Rift Valley fever virus (RVFV), which causes hemorrhagic fever, neurological disorders or blindness in humans, and a high rate ... Ex vivo Method for High Resolution Imaging of Cilia Motility in Rodent Airway Epithelia ...
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects...
... genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the ... Primary ciliary dyskinesia (PCD; MIM244400) is a heterogeneous genetic disorder arising from ultrastructural defects that cause ... DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet 2013;45:995-1003. ... ciliary or flagella motility (p=6.10×10−19), microtubule-based movement (p=1.16×10−9) and cilium assembly (p=1.16×10−9). ...
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Histology, 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, ...
Elias Nicholas Katsanis - Research Output
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CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in ... is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary ... Disruption of a ciliary B9 protein complex causes meckel syndrome. Dowdle, W. E., Robinson, J. F., Andreas Kneist, K., Sirerol- ... Cystic diseases of the kidney: Ciliary dysfunction and cystogenic mechanisms. Gascue, C., Katsanis, E. N. & Badano, J. L., Aug ...
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Search | Global Index Medicus
Ciliary Motility Disorders/pathology , Biopsy , Cilia/ultrastructure , Ciliary Motility Disorders/therapy , Dyneins/deficiency ... Background: Ciliary dyskinesia (CD) is a low incidence genetic illness, that presents with a wide clinical spectrum. Also, ... there are transitory conditions that present with ciliary anomalies, secondary to infectious diseases of the airways. Aim: To ... Clinical and ultrastructural features of ciliary dyskinesia ...
DyskinesiaPrimaryAutosomal recessive disorderCilia motilityProteinsBronchiectasisKartagener SyndromeMutationsGenesOuter dynein armCystic FibrosisDysfunctionAxonemal dyneinMotileSitusPhenotypesGeneticsUltrastructureRecurrentHumansSpermMicrotubule-basedDiseasesDynein armsLateralityCiliopathiesMechanismsMammalianGenetic disorderTransmission electron mCiliopathyDevelopmentalDiagnosisInfectionsSensoryDiseaseLungsStructuresAxonemes
Dyskinesia53
- Individuals with primary ciliary dyskinesia (PCD) have defective mucociliary clearance, which in turn leads to lung infections and disease. (clinicaltrials.gov)
- Primary ciliary dyskinesia (PCD) is a rare genetic disease characterised by recurrent respiratory infections and subfertility due to dysfunction of cilia (brushes) of the lining cells. (clinicaltrials.gov)
- Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene. (biomedsearch.com)
- Reduced mucociliary clearance in primary ciliary dyskinesia (PCD) causes recurrent infections of the upper and lower respiratory tract. (biomedsearch.com)
- Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. (frontiersin.org)
- Primary ciliary dyskinesia (PCD) is a clinically and genetically heterogeneous group of disorders of ciliary motility (MIM 244400) ( 1 ). (frontiersin.org)
- Kartagener's syndrome is a type of ciliary motility disorder called primary ciliary dyskinesia. (thefreedictionary.com)
- Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder leading to chronic upper and lower airway disease. (ersjournals.com)
- Primary ciliary dyskinesia (PCD (Online Mendelian Inheritance in Man: 244400)) is a rare autosomal recessive disorder of ciliary motility resulting in chronic upper- and lower-airway disease. (ersjournals.com)
- Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. (wikipedia.org)
- Background Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. (bmj.com)
- Background: Ciliary dyskinesia (CD) is a low incidence genetic illness, that presents with a wide clinical spectrum. (bvsalud.org)
- Unexpectedly, we found that deleting exons 2-4 of Dyx1c1 in mice caused a phenotype resembling primary ciliary dyskinesia (PCD), a disorder characterized by chronic airway disease, laterality defects and male infertility. (princeton.edu)
- Primary cilliary dyskinesia (PCD) is an heterogeneous genetic disease caused by a structural and/or functional alteration of the ciliary skeleton. (bvsalud.org)
- Defects in cilia motility cause a rare genetic disorder called Primary Ciliary Dyskinesia (PCD). (ed.ac.uk)
- This series in Cilia contains both reviews and research articles covering diverse topics, including recent advances in ciliary ultrastructure, physiologic and transcriptional mechanisms of motility regulation, and discoveries relating to the role of cilia in health and disease made through analysis of Primary Ciliary Dyskinesia models and genetics. (biomedcentral.com)
- Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder with defective structure and/or function of motile cilia/flagella, causing chronic upper and lower respiratory tract infections, fertilit. (biomedcentral.com)
- Primary ciliary dyskinesia (PCD) is a rare inherited disease affecting motile cilia lining the respiratory tract. (aappublications.org)
- Primary ciliary dyskinesia presents in infancy with unexplained neonatal respiratory distress, yet diagnosis is often delayed until late childhood. (aappublications.org)
- Novel Mutation in Retinitis Pigmentosa GTPase Regulator Gene Causes Primary Ciliary Dyskinesia and Retinitis Pigmentosa. (nih.gov)
- The authors present a 16-year-old boy with a history of primary ciliary dyskinesia presenting with complaints of nyctalopia and visual field constriction. (nih.gov)
- Lung resection is a controversial and understudied therapeutic modality in Primary Ciliary Dyskinesia (PCD). (biomedcentral.com)
- The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex and expensive, tests. (bvsalud.org)
- In humans, defects in structural components, docking complexes, or cytoplasmic assembly factors can cause primary ciliary dyskinesia (PCD), a disorder characterized by chronic airway disease and defects in laterality. (edu.au)
- Primary ciliary dyskinesia (PCD) is a rare disorder that affects the biogenesis or function of motile cilia resulting in chronic airway disease. (elsevier.com)
- Congenital defects in mucociliary clearance such as primary ciliary dyskinesia (PCD) syndromes may also be a cause, explaining almost 3% of previously idiopathic cases. (merckmanuals.com)
- Axonemal anomalies (absence of external and/or internal dynein arms, central pair of microtubules absence) may be the cause of primary ciliary dyskinesia (PCD). (deepdyve.com)
- may be the cause of pr imar y ciliary dyskinesia (P CD). (deepdyve.com)
- Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. (nih.gov)
- Ciliary dyskinesia, primary, 5 (CILD5): An autosomal recessive form of primary dyskinesia, a disorder characterized by abnormalities of motile cilia. (nih.gov)
- Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. (nih.gov)
- 57 Primary ciliary dyskinesia-23 is an autosomal recessive disorder resulting from defective ciliary motility. (malacards.org)
- 2013). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. (malacards.org)
- An important gene associated with Ciliary Dyskinesia, Primary, 23 is ODAD2 (Outer Dynein Arm Docking Complex Subunit 2). (malacards.org)
- 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has material basis in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p. (malacards.org)
- 72 Ciliary dyskinesia, primary, 23: A disorder characterized by abnormalities of motile cilia. (malacards.org)
- Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder characterised by ultrastructural and/or motility defects of cilia that are commonly associated with recurrent or chronic respiratory symptoms. (bmj.com)
- Accuracy of diagnostic testing in primary ciliary dyskinesia: are we there yet? (ersjournals.com)
- Although primary ciliary dyskinesia (PCD) is a rare disease, symptoms like recurrent upper and lower respiratory tract infections are extremely common, especially in the paediatric population. (ersjournals.com)
- The term primary ciliary dyskinesia (PCD (MIM 244400)) has been used for a clinically and genetically heterogeneous group of recessive disorders with defective ciliary motility resulting in chronic upper and lower respiratory tract disease. (biomedcentral.com)
- Subsequent research lead to the replacement of the term 'immotile cilia syndrome' by 'primary ciliary dyskinesia' in order to emphasize that not only ciliary immotility but also abnormal ciliary motility causes PCD [ 2 ]. (biomedcentral.com)
- Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study. (pro-kartagener.ch)
- Primary ciliary dyskinesia (PCD) has been considered a relatively mild disease, especially compared to cystic fibrosis (CF), but studies on lung function in PCD patients have been few and small.This study compared lung function from spirometry of PCD patients to normal reference values and to published data from CF patients. (pro-kartagener.ch)
- Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort. (pro-kartagener.ch)
- Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. (pro-kartagener.ch)
- Primary ciliary dyskinesia (PCD) is an autosomal-recessive disease due to functional or ultra-structural defects of motile cilia. (pro-kartagener.ch)
- Some individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. (smore.com)
- Primary Ciliary Dyskinesia (PCD, OMIM #242650 ) or Immotile Cilia Syndrome (ICS) is an hereditary condition affecting the motility of ciliary and spermatozoa flagella. (unige.ch)
- Primary ciliary dyskinesia (PCD), a rare genetic disorder, is mostly caused by defects in more than 40 known cilia structure-related genes. (frontiersin.org)
- Primary ciliary dyskinesia (PCD) is a sinopulmonary disease caused by dysfunctional immotile or dyskinetic respiratory cilia. (frontiersin.org)
- In humans, defects specifically affecting motile cilia lead to chronic airway infections, infertility and laterality defects in the genetically heterogeneous disorder Primary Ciliary Dyskinesia (PCD). (sdbonline.org)
- Primary ciliary dyskinesia (PCD), also known as Kartagener syndrome, is a genetic disorder of the cilia, which are microscopic hair-like cells. (stanford.edu)
- Case studies of children with primary ciliary dyskinesia have revealed an association between abnormally long cilia in the lung airway and recurrent lung infections, suggesting that elongated cilia fail to remove contaminants in the airway ( 7 ). (pnas.org)
Primary2
- Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. (nih.gov)
- Cerebello-oculo-renal syndrome (CORS), also called Joubert syndrome type B, and Meckel (MKS) syndrome belong to the group of developmental autosomal recessive disorders that are associated with primary cilium dysfunction. (nih.gov)
Autosomal recessive disorder3
- an apparently autosomal recessive disorder in which mucus clearance is sluggish and bronchiectasis is prevalent and intractable. (thefreedictionary.com)
- Kartagener syndrome is a congenital, autosomal recessive disorder that affects ciliary motility. (sages.org)
- It is an autosomal recessive disorder and clinically characterized by respiratory distress, tympanitis, sinusitis, bronchiectasis, and male infertility in approximately 50% of patients. (frontiersin.org)
Cilia motility4
- Adding to my functional studies, I present proteomic data to propose mechanisms by which HEATR2 and ZMYND10 proteins control cilia motility. (ed.ac.uk)
- and 2) IFT88 is required to translocate the methacholine receptor, which is part of a cilia motility regulator complex, from the cilia basal body into the ciliary membrane. (alphaomegaalpha.org)
- This gene encodes a protein that may be involved in cilia motility. (nih.gov)
- Finally, we demonstrate that TOR signaling and cilia length are pivotal for a variety of downstream ciliary functions, such as cilia motility, fluid flow generation, and the establishment of left-right body asymmetry. (pnas.org)
Proteins11
- In recent years new diagnostic methods have been developed based on novel knowledge of the structural ciliary proteins, the genes encoding these proteins and mutations associated to DCP. (bvsalud.org)
- Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms. (bvsalud.org)
- Among key ciliary proteins, kinesin family members (KIF) are microtubule‐interacting proteins involved in many diverse cellular functions, including transport of cargo (organelles, proteins and lipids) along microtubules and regulating the dynamics of cytoplasmic and spindle microtubules through their depolymerising activity. (inserm.fr)
- The great majority of the PCD-associated genes identified so far encode either components of dynein arms (DAs), which are multiprotein-ATPase complexes essential for ciliary motility, or proteins involved in DA assembly. (pro-kartagener.ch)
- PCD is a genetically heterogeneous disorder affecting motile cilia which are made up of approximately 250 proteins. (smore.com)
- Around 90% of individuals with PCD have ultrastructural defects affecting proteins in the outer and inner dynein arms which give cilia their motility, with roughly 38%of these defects caused by mutations in two genes, DNAI1 and DNAH5 (code for proteins found in the ciliary outer dynein arm. (smore.com)
- Despite major advances in understanding ciliary trafficking pathways such as intraflagellar transport (IFT), how proteins are transported to subciliary membranes remains poorly understood. (mdc-berlin.de)
- Do all ciliary proteins utilize IFT to get into the cilium or are there alternative, yet to be discovered, transport systems? (uga.edu)
- Using this approach, we demonstrated that many structural ciliary proteins (tubulin etc.) are cargoes of IFT. (uga.edu)
- In our studies of the rare inherited disorder Bardet-Biedl syndrome (BBS), we are currently determining the molecular mechanism by which the BBSome (a complex of 8 BBS proteins) removes proteins that perturb cilia function from the organelle. (uga.edu)
- Elucidate the structure, dynamics and functions of intrinsically disordered proteins and protein regions (IDPs/IDRs) and their biological regulation by Post-translational modifications. (upstate.edu)
Bronchiectasis5
- Disorder inwhich mucus clearance is sluggish and bronchiectasis is prevalent and intractable. (thefreedictionary.com)
- abnormality of ciliary function leading to diseases of respiratory and reproductive tracts including sinusitis and bronchiectasis. (thefreedictionary.com)
- Bronchiectasis is best considered the common end-point of various disorders that cause chronic airway inflammation. (merckmanuals.com)
- Diffuse bronchiectasis sometimes complicates common autoimmune disorders, such as RA or Sjögren syndrome, and can occur in the setting of hematologic malignancy, organ transplant, or due to the immune compromise associated with treatment in these conditions. (merckmanuals.com)
- Bronchiectasis may result from a number of infectious and acquired causes, including pneumonia, tuberculosis, immune system problems, as well as the genetic disorder cystic fibrosis. (wikipedia.org)
Kartagener Syndrome2
- Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. (bvsalud.org)
- These findings highlight that Kartagener syndrome might be a complex genetic heterogeneous disorder mediated by heterozygous mutations in multiple PCD- or cilia-related genes. (frontiersin.org)
Mutations4
- Our findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder. (nih.gov)
- By using combined high resolution copy-number variant and mutation analysis, we identified ARMC4 mutations in twelve PCD individuals whose cells showed reduced numbers of ODAs and severely impaired ciliary beating. (edu.au)
- In addition, more recently PCD variants have been described with very subtle motility defects, such as those associated with mutations in GAS8 [ 13 ]. (ersjournals.com)
- Likewise, novel mucociliary clearance disorders associated with a reduced number of normal functioning cilia caused by mutations in CCNO [ 14 ] and MCIDAS [ 15 ] genes producing a clinical respiratory phenotype similar to PCD may be missed by HSVM, even if cell culture is performed, as lack of cilia is often wrongly considered secondary to infections or a culture artefact. (ersjournals.com)
Genes8
- This addition of ARMC4 to the list of genes associated with ciliary outer dynein arm defects expands our understanding of the complexities of PCD genetics. (bmj.com)
- En los últimos años se han desarrollado métodos diagnósticos sobre la base de un mejor conocimiento de la estructura proteica de los cilios, de los genes que codifican estas proteínas y de las mutaciones asociadas a DCP. (bvsalud.org)
- The forkhead transcription factor FOXJ1, additionally activates motility genes such as the ones encoding components of axonemal dynein motors which transfer the chemical energy released from ATP hydrolysis to kinetic motion necessary for ciliary motility. (ed.ac.uk)
- In addition, we show that RPGRIP1L colocalizes at the basal body and centrosomes with the protein products of both NPHP6 and NPHP4, known genes associated with MKS, CORS and nephronophthisis (a related renal disorder and ciliopathy). (nih.gov)
- We conclude that MKS/NPHP modules comprise a TZ barrier to ARL-13 diffusion, whereas IFT genes predominantly facilitate ARL-13 ciliary entry and/or retention via active transport mechanisms. (mdc-berlin.de)
- Taking this approach, we have identified numerous novel ciliary genes in C. elegans , some of which may be orthologs of unidentified human ciliopathy genes. (biomedcentral.com)
- 5 ]). A key finding, which has provided the groundwork for uncovering new ciliary genes, was the discovery in 2000 by Swoboda et al . (biomedcentral.com)
- 6 ] that C. elegans transcription factor DAF-19 regulates the expression of key ciliogenic genes (for example, che-2 , osm-1 , and osm-6 ), and is, therefore, required for building and maintaining nematode ciliary structures. (biomedcentral.com)
Outer dynein arm2
- A deficiency of ARMC4 protein was seen in patient's respiratory cilia accompanied by loss of the distal outer dynein arm motors responsible for generating ciliary beating, giving rise to cilia immotility. (bmj.com)
- Whereas in healthy human respiratory epithelial cells (wt, A) both DNAH5 and acetylated α-tubulin antibodies co-localize along the entire length of the ciliary axonemes, in an individual with an outer dynein arm defect (B) , the ODA heavy chain DNAH5 is absent from the axonemes. (biomedcentral.com)
Cystic Fibrosis1
- This is a long-term study in cystic fibrosis patients who are participating in the Cystic Fibrosis Patient Registry to assess the occurrence and risk factors for a rare bowel disorder called fibrosing colonopathy (narrowing of the large intestine). (stanford.edu)
Dysfunction3
- Dysfunction of the cilium is the basis for multiple human genetic disorders that have collectively been called the ciliopathies. (nih.gov)
- Ciliary dysfunction in humans causes a highly heterogeneous group of diseases called ciliopathies, a class of genetic multisystemic disorders primarily affecting kidney, skeleton, retina, lung and the central nervous system. (inserm.fr)
- Hence, defects in cilia observed in ciliopathy patients affect multiple organs and result in developmental defects, heart and kidney disease, respiratory dysfunction, anosmia and neurological disorders. (ntnu.edu)
Axonemal dynein1
- This study reports characterization of CG31320/ HEATR2 , which plays a conserved critical role in forming the axonemal dynein arms required for ciliary motility in both flies and humans. (sdbonline.org)
Motile3
- Since their initial discovery several centuries ago, motile cilia have been of general interest to basic scientists and others who study the dynamics and physiological relevance of their motility. (nih.gov)
- Our data show that in the absence of IFT88, there is a significantly decreased number of motile points measured as a function of time, indicating impaired ciliogenesis, while the ciliary beat frequency (CBF) remains unchanged for those ciliated cells that remain. (alphaomegaalpha.org)
- These data implicate CG31320/ HEATR2 in a growing intracellular pre-assembly and transport network that is necessary to deliver functional dynein machinery to the ciliary compartment for integration into the motile axoneme (Diggle, 2014). (sdbonline.org)
Situs4
- Situs inversus and ciliary abnormalities: 20 years later, what is the connection? (biomedcentral.com)
- Heterotaxy (also known as situs ambiguous ) and situs inversus totalis describe disorders of laterality in which internal organs do not display their typical pattern of asymmetry. (biomedcentral.com)
- Situs inversus , due to impaired ciliary motion during embryogenesis: lateral transposition of lungs, abdominal and thoracic viscera are on opposite sides of the body as normal. (rxpgonline.com)
- Loss of ciliary motility, for example, results in chronic airway infections, situs anomalies including congenitial heart defects, and male infertility. (uga.edu)
Phenotypes3
- Our work will help lead to the recognition of new phenotypes of genetic and acquired cilia disorders that are based on dysregulation of IFTs in ciliary motility and not just anatomical structural defects of the axoneme. (alphaomegaalpha.org)
- Diagnosing PCD requires a combined approach utilizing characteristic phenotypes and complementary methods for detection of defects of ciliary function and ultrastructure, measurement of nasal nitric oxide and genetic testing. (biomedcentral.com)
- Similar to bbs gene mutants, dye-filling defect (Dyf) phenotypes are found in other ciliary and IFT mutants, including dyf-1 through dyf-13 , as well as many Osm (osmotic avoidance abnormal) and Che (abnormal chemotaxis) mutants [ 3 ]. (biomedcentral.com)
Genetics1
- Using a combination of genetics and imaging techniques, we investigate cellular and physiological mechanisms regulating ciliary function and motility, in vivo. (ntnu.edu)
Ultrastructure1
- Similarly, it has been clear for many years now that TEM can show a (nearly) normal ciliary ultrastructure in specific PCD subtypes [ 13 , 21 , 22 ]. (ersjournals.com)
Recurrent2
- Recurrent sinopulmonary infections (due to impaired ciliary tract). (rxpgonline.com)
- The defects in the ciliary are due to an abnormal ciliary movement, which is manifest as recurrent and persistent or chronic sinopulmonary infections, among other problems as well as respiratory failure. (smore.com)
Humans1
- PKD is one of the most common inherited disorders in humans with an incidence of approximately 600,000 people in the United States and over 12,000,000 worldwide. (uga.edu)
Sperm8
- Senchenkov, E. 2016-09-24 00:00:00 Motility is the most important property of mammalian sperm required for fertilization. (deepdyve.com)
- Axoneme and axoneme surrounding tail components are the morphological substrate of sperm motility. (deepdyve.com)
- Exogenous factors, and, rarely, genetic defects may cause a significant reduction in sperm motility. (deepdyve.com)
- PCD-a severe systemic disease of the reduction of sperm motility-is just one symptom. (deepdyve.com)
- Dysplasia of the fibrous sheath (DFO) is also genetically determined sperm motility decrease. (deepdyve.com)
- sperm motility-is just one symptom. (deepdyve.com)
- sperm motility decr ease. (deepdyve.com)
- Sperm motility is also decreased. (nih.gov)
Microtubule-based4
- Cilia are polarized extensions of the cells microtubule-based cytoskeleton dedicated to sensory, signaling and motility-related functions. (ed.ac.uk)
- Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions. (mdc-berlin.de)
- Cilia are highly conserved microtubule-based structures that perform a variety of sensory and motility functions during development and adult homeostasis. (sdbonline.org)
- The biogenesis and maintenance of cilia is dependent on intraflagellar transport (IFT), which is a bidirectional motility process driven by anterograde and retrograde motors that operate along the microtubule-based ciliary axoneme [ 2 ]. (biomedcentral.com)
Diseases4
- Also, there are transitory conditions that present with ciliary anomalies, secondary to infectious diseases of the airways. (bvsalud.org)
- On the long term , we expect that our work will inspire scientist not only to simulate and imitate brain circuits in silico, but also comprehend neural mechanisms underlying neurological conditions such as stress, anxiety, eating disorders or neurodegenerative diseases and inspire the development of novel therapies. (ntnu.edu)
- Defects in cilia function cause a plethora of diseases and developmental disorders referred to as ciliopathies. (uga.edu)
- The goal of our research is to understand how cells assemble and maintain cilia, and to identify the molecular mechanisms underlying ciliary diseases. (uga.edu)
Dynein arms1
- The motive forces for ciliary movement are generated by large multiprotein complexes referred to as outer dynein arms (ODAs), which are preassembled in the cytoplasm prior to transport to the ciliary axonemal compartment. (edu.au)
Laterality1
- Morpholinos targeting dyx1c1 in zebrafish also caused laterality and ciliary motility defects. (princeton.edu)
Ciliopathies1
- This role is supported by the revelation that defects of the cilium underlie an emerging class of human disorders, termed "ciliopathies. (pnas.org)
Mechanisms2
- Using Caenorhabditis elegans and mammalian cells, we investigated the transport mechanisms underlying compartmentalization of JS-associated ARL13B/ARL-13, which we previously found is restricted at proximal ciliary membranes. (mdc-berlin.de)
- Furthermore, the seemingly unrelated and heterogeneous nature of these signals emphasize that our knowledge of the mechanisms regulating ciliary size is currently limited. (pnas.org)
Mammalian2
- The proposed pathophysiological mechanism involves anticholinergic effects and a possible serotonergic mechanism due to the presence of 5-HT receptors in human eyes and their concentration in the mammalian ciliary body and cornea. (thefreedictionary.com)
- We now show evolutionary conservation of ARL13B/ARL-13 localisation to an Inv-like subciliary membrane compartment, excluding the TZ, in many C. elegans ciliated neurons and in a subset of mammalian ciliary subtypes. (mdc-berlin.de)
Genetic disorder1
- PCD is a rare genetic disorder in which impaired mucus clearance commonly results in chronic cough and infections in the airways, sinuses, and middle ears. (clinicaltrials.gov)
Transmission electron m1
- The method hitherto regarded as the gold standard is the analysis of ciliary structure by transmission electron microscopy (TEM). (bvsalud.org)
Ciliopathy1
- We here review these ciliary kinesins in vertebrates and focus on their involvement in ciliopathy‐related disorders. (inserm.fr)
Developmental1
- The connection between disease and developmental defects due to the loss of ciliary function has brought the efforts of the biomedical research establishment to bear on this underappreciated and long overlooked organelle. (nih.gov)
Diagnosis1
- The diagnosis of PCD is a difficult one and involves the complex assessment of ciliary structure and function. (clinicaltrials.gov)
Infections1
- Maxillary sinusitis due to dental disorders In case of maxillary sinusitis secondary to dental disorders, if symptoms, sinus infections persist even after apicoectomy treatment or root canal, the sinus surgery is required. (nasodren.com)
Sensory1
- Consistent with the ubiquitous distribution of cilia, many physiological processes are critically dependent on their function, which can be broadly classified into two categories, namely cell (and fluid) motility and sensory perception [ 3 ]. (biomedcentral.com)
Disease1
- Defects in ciliary sensing result in blindness, anosmia (loss of the sense of smell), polydactyly (extra fingers and toes), obesity, severe skeletal malformations, and polycystic kidney disease (PKD). (uga.edu)
Lungs1
- This action, called motility, clears the sinuses and lungs of germs that can cause infection. (smore.com)
Structures5
- used particulary in reference to certain eye structures, such as the ciliary body or muscles. (thefreedictionary.com)
- folded structures on the posterior aspect of the ciliary body. (thefreedictionary.com)
- 2. Of or relating to the ciliary body and associated structures of the eye. (thefreedictionary.com)
- Evolutionarily convergent features in the development of these abbreviated forms include large eggs, bullet-shaped larval bodies, loss of feeding structures and a larval skeleton, the presence of uniform ciliation or transverse ciliary bands used for swimming, and decreased time to the juvenile stage (Emlet et al. (thefreedictionary.com)
- Across the Tree of Life, such large ciliary structures are only found in comb jellies. (thefreedictionary.com)
Axonemes1
- This presents limitations because analyzes a limited number of ciliary axonemes, and may exclude cases with typical functional and clinical presentation. (bvsalud.org)