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Ciliary Motility Disorders (1):
Recent article
Ciliary Motility Disorders
New England Journal of Medicine (364)16 2011
Abstract
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Abstract
The number of mouse mutants and strains with neural tube defects (NTDs) now exceeds 240, including 205 representing specific genes, 30 for unidentified genes, and 9 multifactorial strains. These mutants identify genes needed for embryonic neural tube closure. Reports of 50 new NTD mu...
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PMID: 20740593
PDF is available here.
PDF is available here.
Abstract
We collected 13 patients with CED symptoms from 12 independent families. In one family with consanguineous parents two siblings were affected, permitting linkage analysis and homozygosity mapping. This revealed a single region of homozygosity with a significant LOD score (3.57) on chromosome 3q21-3q...
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PMID: 20493458
PDF is available here.
PDF is available here.
Abstract
We report here that the beating asymmetry is crucial for ciliary function and requires tubulin glutamylation, a unique posttranslational modification that is highly abundant in cilia. WT murine tracheal cilia have an axoneme-intrinsic structural curvature that points in the direction of effective st...
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PMID: 20498047
PDF is available here.
PDF is available here.
Abstract
Our study strongly suggests that PCD is a disease of serious threat to lung function already at preschool age, and with a high degree of variation in courses of lung function after diagnosis that was not linked to either age or level of lung function at diagnosis. Early diagnosis did not protect aga...
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PMID: 20167855
PDF is available here.
PDF is available here.
Abstract
A 71-year-old man was admitted to Kanto Central Hospital with hemoptysis. He had had chronic sinusitis and deafness since childhood. Situs inversus, bronchiectasia, and diffuse panbronchiolitis had been also diagnosed at the age of 59. Chest computed tomography demonstrated a 5-cm mass in the anteri...
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PMID: 20560440
PDF is available here.
PDF is available here.
Ugeskrift for laeger (172)8 2010
Abstract
Recombinant human DNase (rhDNase) reduces viscosity of sputum. Effect has been documented in cystic fibrosis and postoperatively in paediatric heart disease. Single dose treatment with rhDNase in paediatric asthma has no effect. In respiratory syncytial virus infection, treatment with rhDNase may be...
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PMID: 20184817
PDF is available here.
PDF is available here.
Abstract
CBF significantly increased fourfold over baseline from 5.99 +/- 3.16 Hz to 22.4 +/- 4.33 Hz in the presence of zinc chloride (50 micromoles) and calcium chloride (3 mM). This effect is abolished in the presence of extracellular Na(+) and was pH dependent. CONCLUSION: Zinc stimulates CBF in the pres...
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PMID: 20109308
PDF is available here.
PDF is available here.
Abstract
We describe a case of retinitis pigmentosa, associated with bronchiectasis, as the first sign of primary ciliary dyskinesia (PCD). Only a few cases were described in the literature and the association of both diseases is not obvious at first sight, although a common ciliary dysfunction of both respi...
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PMID: 20480745
PDF is available here.
PDF is available here.
Vnitrni lekarstvi (55)11 2009
Abstract
We did not find any difference in average ciliary beat frequencies between nose (6.0 Hz +/- 1.3) and bronchus (5.9 +/- 1.3) locality (p = 0.427). We find weak association between nose and bronchus in "ciliary akinesia" (kappa = 0.282) but medium association in "metaplasia" (kappa = 0.485), in index...
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PMID: 20017434
PDF is available here.
PDF is available here.
Minerva Pediatrica (61)5 2009
Abstract
Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder with characteristic features of skin and central nervous system involvement. Gastrointestinal complications are rare, especially during childhood. In adults, only two cases of peptic ulcer have been reported in neurofibromatos...
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PMID: 19794381
PDF is available here.
PDF is available here.
Abstract
We encountered a 59-year-old man, whose chief complaints were sputum and dyspnea on effort. He had suffered from sinusitis since childhood, and chest computed tomography showed bronchiectasis. Electron microscopic examination of bronchial mucosa biopsied by bronchoscopy showed defect of the inner dy...
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PMID: 19348274
PDF is available here.
PDF is available here.
Abstract
Nasal polyps do not occur in children with PCD, despite the presence of rhinosinusitis. Given that many current theories of polyp pathogenesis hinge on prolongation of proinflammatory stimuli, further investigations are needed into why this should not occur in the situation of chronic mucous stasis...
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PMID: 19382500
PDF is available here.
PDF is available here.
Abstract
We have described the management of a male infertility that causes from immotile cilia. The role of ICSI with incubated and activated ejaculatory sperm by pentoxifylline in the patient of PCD or as commonly named immotile cilia syndrome....
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PMID: 18461343
PDF is available here.
PDF is available here.
Ugeskrift for laeger (171)5 2009
Abstract
A productive (sounding) cough is always abnormal, and suppurative lung disease should be considered. A chronic suppurative cough may be associated with the destruction of the bronchial wall (bronchiectasis). The most commonly identifiable cause of suppurative cough is cystic fibrosis. This article,...
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PMID: 19176166
PDF is available here.
PDF is available here.
Abstract
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.
Abstract
We selected 10 nonrelated affected fetuses and looked for the homozygous regions shared by them. Based on this strategy, we identified the sixth locus and the fifth gene, CC2D2A (MKS6), behind MKS. The biological function of CC2D2A is uncharacterized, but the corresponding polypeptide is predicted t...
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PMID: 18513680
PDF is available here.
PDF is available here.
Abstract
In the past half century, beginning with electron microscopic studies of 9 + 2 motile and 9 + 0 primary cilia, novel insights have been obtained regarding the structure and function of mammalian cilia. All cilia can now be viewed as sensory cellular antennae that coordinate a large number of cellula...
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PMID: 18365235
PDF is available here.
PDF is available here.
Abstract
The presence of TTV in nasal samples demonstrates TTV ability to infect respiratory ciliated cells and suggests that these cells are potentially able to support virus replication. Moreover, TTV may behave in respiratory cells in a similar way to other viruses, that is, they disrupt the mucociliary e...
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PMID: 18360304
PDF is available here.
PDF is available here.
Abstract
Nitric oxide (NO) is a molecule with a homeostatic role in a number of physiological processes. Concerning respiratory diseases, exhaled nitric oxide (FE(NO)) is a marker of airway inflammation, and its measurement can be easily performed. To date, a large number of publications defined the performa...
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PMID: 18581969
PDF is available here.
PDF is available here.
Abstract
Abstract
Laryngoscope (118)3 2008
Abstract
The average CBFs in control, recovered, and regenerated mucosa were 13.21 +/- 3.66 Hz, 13.20 +/- 3.53 Hz, and 14.16 +/- 3.87 Hz, respectively. The average CWDs in these groups were 8.46 +/- 4.4, 21.04 +/- 14.73, and 24.43 +/- 19.2, respectively. SEM showed that loss of cilia and irregularities of ci...
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PMID: 18176352
PDF is available here.
PDF is available here.
Journal of Cell Biology (180)1 2008
Abstract
I will discuss from the viewpoint of cell biological studies in model organisms....
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PMID: 18180369
PDF is available here.
PDF is available here.
Abstract
A transport function and motor activity of the ciliary system (MACS) of the nasal mucosa was studied in 10 patients with chronic polypous rhinosinusitis (CPRS). A complex examination included optic endoscopy of the nasal cavity for assessment of nasal polypous process, timing of the saccharine test...
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PMID: 18454069
PDF is available here.
PDF is available here.
Abstract
The 'one airway' model for upper and lower respiratory tract disease is a concept gaining increasing momentum in both respiratory medicine and otorhinolaryngology. The specific common aetiology and pathophysiology of concomitant bronchiectasis and sino-nasal disease, such as chronic rhinosinusitis,...
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PMID: 17592654
PDF is available here.
PDF is available here.
Abstract
Abnormal visceral patterning has been known for centuries. However, it has not been associated with ciliary dysfunction until recently. Overlapping clinical entities including situs inversus, certain infertility disorders, as well as chronic respiratory infections have their roots in abnormal ciliar...
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PMID: 18312782
PDF is available here.
PDF is available here.
Abstract
The aim of this study is to assess ciliary motion patterns in children with bronchiectasis unrelated to cystic fibrosis or primary ciliary dyskinesia. In 51 children with recurrent pneumonia, high resolution computed tomography (HRCT) was carried out to detect and score bronchiectasis. Moreover, cil...
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PMID: 18336748
PDF is available here.
PDF is available here.
Abstract
We have investigated the use of embryo-safe IBDV and IBV vaccines and the effects of co-delivery of a turkey herpesvirus recombinant expressing bioactive chicken IL-2 (IL-2/HVT). Co-delivery of the IL-2/HVT with low doses of the IBDV or IBV vaccines significantly increased the antibody response agai...
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PMID: 17996994
PDF is available here.
PDF is available here.
Abstract
We studied a mouse model of PCD with a recessive mutation in Dnahc5, a dynein gene commonly mutated in PCD. Analysis of homozygous mutant embryos from 18 litters yielded 25% with normal organ situs, 35% with situs inversus totalis, and 40% with heterotaxy. Embryos with heterotaxy had complex structu...
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PMID: 18037990
PDF is available here.
PDF is available here.
Abstract
Defects in the function of cellular organelles such as peroxisomes, lysosomes and mitochondria are well-known causes of human diseases. Recently, another organelle has also been added to this list. Cilia--tiny hair-like organelles attached to the cell surface--are located on almost all polarized cel...
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PMID: 17955020
PDF is available here.
PDF is available here.
Abstract
The CSA at the attachment of the inferior turbinate was increased with age in both before and after decongestion. However, the difference of CSA between pre- and post-decongestion did not change significantly with age. At the nasal valve area, the CSA showed almost same values between age groups and...
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PMID: 17882577
PDF is available here.
PDF is available here.
Abstract
A total of 95 patients, 5 to 74 years of age, were included in the study (57 patients in whom PCD was diagnosed, 26 non-PCD patients, and 12 patients referred for PCD workup without a conclusive workup result). In substudy 1, 14 of 15 patients with known PCD showed impaired PRMC; the results were in...
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PMID: 17646235
PDF is available here.
PDF is available here.
Fertility and Sterility (88)2 2007
Abstract
OBJECTIVE: To describe a case of intracytoplasmic sperm injection (ICSI) with testicular sperm in men with immotile cilia syndrome and to discuss the role of micromanipulation in the treatment of these patients. DESIGN: Case report. SETTING: Private infertility clinic and assisted reproduction unit....
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PMID: 17442314
PDF is available here.
PDF is available here.
Nature Genetics (39)7 2007
Abstract
We show that RPGRIP1L interacts with nephrocystin-4 and that mutations in the gene encoding nephrocystin-4 (NPHP4) that are known to cause SLSN disrupt this interaction. RPGRIP1L is ubiquitously expressed, and its protein product localizes to basal bodies. Therefore, we analyzed RPGRIP1L as a candid...
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PMID: 17558407
PDF is available here.
PDF is available here.
Nature Genetics (39)7 2007
Abstract
We identified missense and truncating mutations in RPGRIP1L (KIAA1005) in both CORS and MKS, and we show that inactivation of the mouse ortholog Rpgrip1l (Ftm) recapitulates the cerebral, renal and hepatic defects of CORS and MKS. In addition, we show that RPGRIP1L colocalizes at the basal body and...
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PMID: 17558409
PDF is available here.
PDF is available here.
Nature Genetics (39)7 2007
Abstract
Circulation (115)22 2007
Abstract
Abstract
In adults and older children the measurement of fractional exhaled nitric oxide (FENO) has been shown to be useful as a tool to diagnose and monitor eosinophilic airway inflammation. However, the recommended method to measure FENO in school-age children is not suited for use in preschool children an...
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PMID: 17562496
PDF is available here.
PDF is available here.
Journal of Neurochemistry (101)1 2007
Abstract
The rat ortholog of the WD40 repeat protein Wdr16 is abundantly expressed in testis and cultured ependymal cells. Low levels are found in lung and brain, respectively, while it is absent from kinocilia-free tissues. In testis and ependymal primary cultures, Wdr16 messenger RNA appears concomitantly...
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PMID: 17394468
PDF is available here.
PDF is available here.
Abstract
Investigations indicated PCD in 12 patients, secondary ciliary dyskinesia (SCD) in 50 patients, and normal results in 2 patients. In 4 of 50 children with SCD, atypical PCD was considered possible. The mean (+/- SD) nNO was 130 +/- 46.95 parts per billion in children affected by PCD, 127.79 +/- 68.5...
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PMID: 17356106
PDF is available here.
PDF is available here.
Genetics in Medicine (9)2 2007
Abstract
Abstract
Primary ciliary dyskinesia is a genetic disorder causing dysfunctional motility of cilia and impaired mucociliary clearance, resulting in a myriad of clinical manifestations including recurrent sinopulmonary disease, laterality defects and infertility. The heterogenous clinical presentation of prima...
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PMID: 17722956
PDF is available here.
PDF is available here.
Physiology (69) 2007
Abstract
Cilia, hair-like structures extending from the cell membrane, perform diverse biological functions. Primary (genetic) defects in the structure and function of sensory and motile cilia result in multiple ciliopathies. The most prominent genetic abnormality involving motile cilia (and the respiratory...
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PMID: 17059358
PDF is available here.
PDF is available here.
Klinische Paediatrie (219)2 2007
Abstract
These findings suggest that the Auto-Jethaler will be an appropriate device for drug administration in children older than 3 years provided that they understand the inspiratory breathing manoeuvre....
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PMID: 16878285
PDF is available here.
PDF is available here.
Development (133)21 2006
Abstract
We summarize an emerging view that in order to understand some complex developmental pathways and disease etiologies, one must consider the molecular functions performed by cilia....
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PMID: 17021045
PDF is available here.
PDF is available here.
Abstract
Significant progress in understanding the molecular mechanisms of polycystic kidney disease (PKD) has been made in recent years. Translating this understanding into effective therapeutics will require testing in animal models that closely resemble human PKD by multiple parameters. Similar to autosom...
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PMID: 16928806
PDF is available here.
PDF is available here.
Human Genetics (120)2 2006
Abstract
We report on a large family in which a novel X-linked recessive mental retardation (XLMR) syndrome comprising macrocephaly and ciliary dysfunction co-segregates with a frameshift mutation in the OFD1 gene. Mutations of OFD1 have been associated with oral-facial-digital type 1 syndrome (OFD1S) that i...
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PMID: 16783569
PDF is available here.
PDF is available here.
Current Biology (16)15 2006
Abstract
Cilia are microtubule-based organelles that project like antennae from the surface of most cells in the body. Motile cilia move fluid past cells, for example mucus in the airway. Non-motile primary cilia, however, transduce a multitude of sensory stimuli, including chemical concentrations of growth...
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PMID: 16890522
PDF is available here.
PDF is available here.
Genetics in Medicine (8)8 2006
Abstract
Abstract
We prospectively investigated the morphological and ciliary function abnormalities in 19 consecutive Chinese patients undergoing hemopoietic stem cell transplantation (HSCT) and studied their relationship with pulmonary complications. The percentage of structural ciliary abnormalities preceding HSCT...
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PMID: 16850034
PDF is available here.
PDF is available here.
Abstract
We describe 2 cases of obstructive azoospermia associated with situs inversus and sinopulmonary infection due to ciliary defects. Electron microscopy of testicular sperm flagella demonstrated normal morphology with nine peripheral doublets surrounding a central pair and complete sets of inner and ou...
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PMID: 16850538
PDF is available here.
PDF is available here.
Abstract
The mucociliary elevator is a highly evolved organ that humidifies inspired gases and protects the lungs from particulate, chemical, and microbiologic matter. Studies of disorders mucus and ciliary function have improved the understanding of this forgotten organ. The clinical implications of this un...
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PMID: 16828687
PDF is available here.
PDF is available here.
Abstract
Archives de Pédiatrie (13)6 2006
Abstract
Trends in Genetics (22)5 2006
Abstract
Cilia are hair-like organelles extending from the cell surface that execute motile (e.g. respiratory cilia) and/or sensory functions (e.g. renal monocilia). The basic ultrastructure of cilia and flagella has been well established by electron microscopy. Several recent reports have now provided intri...
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PMID: 16564109
PDF is available here.
PDF is available here.
Abstract
Two newborns, both boys, presented with unexplained respiratory distress. One developed recurrent pneumonias in the first neonatal week and was diagnosed with primary ciliary dyskinesia at the age of 2.5 years. The other had respiratory problems besides a situs inversus totalis and was diagnosed wit...
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PMID: 16676517
PDF is available here.
PDF is available here.
Pediatric Research (59)3 2006
Abstract
We have recently shown that in respiratory epithelial cells from PCD patients with outer dynein arm defects the dynein protein DNAH5 is mislocalized and either completely or partially absent from the ciliary axoneme. In this study, we addressed the question whether SCD might affect axonemal DNAH5 lo...
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PMID: 16492982
PDF is available here.
PDF is available here.
Respiratory Research (7)1 2006
Abstract
Spherical monodisperse ferromagnetic iron oxide particles of 1.9 microm geometric and 4.2 microm aerodynamic diameter were inhaled by seven patients with primary ciliary dyskinesia (PCD) using the shallow bolus technique, and compared to 13 healthy non-smokers (NS) from a previous study. The bolus p...
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PMID: 16423294
PDF is available here.
PDF is available here.
Abstract
The lungs and the nasal passages are continually exposed to respiratory pathogens, toxins, and particulate matter, and have evolved a very effective defense system to protect themselves. Mucociliary clearance is an essential part of this defence and relies on appropriate interactions between the cil...
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PMID: 16551222
PDF is available here.
PDF is available here.