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Quoted phrase not found in phrase index: "Primary ciliary dyskinesia 4"
Page 1
Physiology and pathophysiology of human airway mucus.
Hill DB, Button B, Rubinstein M, Boucher RC. Hill DB, et al. Physiol Rev. 2022 Oct 1;102(4):1757-1836. doi: 10.1152/physrev.00004.2021. Epub 2022 Jan 10. Physiol Rev. 2022. PMID: 35001665 Free PMC article. Review.
Mucus is cleared from the lung by cilia and airflow, including both two-phase gas-liquid pumping and cough-dependent mechanisms, and mucus transport rates are heavily dependent on mucus concentration. Importantly, mucus transport rates are accurately predicted by the gel-o …
Mucus is cleared from the lung by cilia and airflow, including both two-phase gas-liquid pumping and cough-dependent mechanisms, and mucus t …
Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China.
Guan Y, Yang H, Yao X, Xu H, Liu H, Tang X, Hao C, Zhang X, Zhao S, Ge W, Ni X. Guan Y, et al. Chest. 2021 May;159(5):1768-1781. doi: 10.1016/j.chest.2021.02.006. Epub 2021 Feb 10. Chest. 2021. PMID: 33577779 Free PMC article.
BACKGROUND: Primary ciliary dyskinesia (PCD) is a heterogeneous disease with a diverse clinical and genetic spectrum among populations worldwide. ...No differences in classical clinical features were observed among patients with commonly observed …
BACKGROUND: Primary ciliary dyskinesia (PCD) is a heterogeneous disease with a diverse clinical and genetic spectrum am …
Genetics and epigenetics of chronic rhinosinusitis.
Lal D, Brar T, Ramkumar SP, Li J, Kato A, Zhang L. Lal D, et al. J Allergy Clin Immunol. 2023 Apr;151(4):848-868. doi: 10.1016/j.jaci.2023.01.004. Epub 2023 Feb 14. J Allergy Clin Immunol. 2023. PMID: 36797169 Review.
Discerning the genetics and epigenetics of chronic rhinosinusitis (CRS) may optimize outcomes through early diagnostics, personalized and novel therapeutics, and early prognostication. CRS associated with cystic fibrosis and primary ciliary dyskinesia has wel …
Discerning the genetics and epigenetics of chronic rhinosinusitis (CRS) may optimize outcomes through early diagnostics, personalized and no …
Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.
Ringshausen FC, Shapiro AJ, Nielsen KG, Mazurek H, Pifferi M, Donn KH, van der Eerden MM, Loebinger MR, Zariwala MA, Leigh MW, Knowles MR, Ferkol TW; CLEAN-PCD investigators and study team. Ringshausen FC, et al. Lancet Respir Med. 2024 Jan;12(1):21-33. doi: 10.1016/S2213-2600(23)00226-6. Epub 2023 Aug 31. Lancet Respir Med. 2024. PMID: 37660715 Clinical Trial.
BACKGROUND: Mucociliary clearance is dysfunctional in people with primary ciliary dyskinesia, resulting in the accumulation of dehydrated mucus in the airways that is difficult to clear. ...INTERPRETATION: In this phase 2 crossover study, idrevloride in hyper …
BACKGROUND: Mucociliary clearance is dysfunctional in people with primary ciliary dyskinesia, resulting in the accumula …
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics; Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. Wheway G, et al. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13. Nat Cell Biol. 2015. PMID: 26167768 Free PMC article.
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. ...The PRPFs localize to the connecting cilium, and PRPF8- and PRPF31-mutated cells have ciliary defects. Combining the screen with exome sequencing data ide …
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. ...The PRPFs localize to …
Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic.
Tinoco EM, Gigante AR, Ferreira E, Sanches I, Pereira R, Sá R, Monteiro R, Sousa M, Pascoal I. Tinoco EM, et al. Genes (Basel). 2023 Feb 21;14(3):541. doi: 10.3390/genes14030541. Genes (Basel). 2023. PMID: 36980814 Free PMC article.
Primary ciliary dyskinesia (PCD) is a rare hereditary condition characterized by decreased mucociliary clearance of the airways and a compromised reproductive system, resulting in male and female infertility. ...Despite the lack of a specific treatment, it is …
Primary ciliary dyskinesia (PCD) is a rare hereditary condition characterized by decreased mucociliary clearance of the …
Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital.
Toro MDC, Ribeiro JD, Marson FAL, Ortiz É, Toro AADC, Bertuzzo CS, Jones MH, Sakano E. Toro MDC, et al. Genes (Basel). 2022 Jul 15;13(7):1252. doi: 10.3390/genes13071252. Genes (Basel). 2022. PMID: 35886035 Free PMC article.
Primary ciliary dyskinesia (PCD) causes cellular cilia motility alterations, leading to clinical manifestations in the upper and lower respiratory tract and situs abnormalities. ...An observational study was carried out with individuals during t …
Primary ciliary dyskinesia (PCD) causes cellular cilia motility alterations, leading to clinical manifestations …
Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.
Guo Z, Chen W, Wang L, Qian L. Guo Z, et al. J Pediatr. 2020 Oct;225:157-165.e5. doi: 10.1016/j.jpeds.2020.05.052. Epub 2020 Jun 2. J Pediatr. 2020. PMID: 32502479
OBJECTIVE: To report detailed knowledge about the clinical manifestations, ciliary phenotypes, genetic spectrum as well as phenotype/genotype correlation in primary ciliary dyskinesia (PCD) in Chinese children. ...However, variable phenotypes were also …
OBJECTIVE: To report detailed knowledge about the clinical manifestations, ciliary phenotypes, genetic spectrum as well as phenotype/ …
Airway Inflammation in Children with Primary Ciliary Dyskinesia.
Sagel SD, Kupfer O, Wagner BD, Davis SD, Dell SD, Ferkol TW, Hoppe JE, Rosenfeld M, Sullivan KM, Tiddens HAWM, Knowles MR, Leigh MW. Sagel SD, et al. Ann Am Thorac Soc. 2023 Jan;20(1):67-74. doi: 10.1513/AnnalsATS.202204-314OC. Ann Am Thorac Soc. 2023. PMID: 35984413 Free PMC article.
Rationale: The role of airway inflammation in disease pathogenesis in children with primary ciliary dyskinesia (PCD) is poorly understood. Objectives: We investigated relationships between sputum inflammation measurements, age, lung function, bronchiectasis, …
Rationale: The role of airway inflammation in disease pathogenesis in children with primary ciliary dyskinesia (PCD) is …
Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype.
Kinghorn B, Rosenfeld M, Sullivan E, Onchiri F, Ferkol TW, Sagel SD, Dell SD, Milla C, Shapiro AJ, Sullivan KM, Zariwala MA, Pittman JE, Mollica F, Tiddens HAWM, Kemner-van de Corput M, Knowles MR, Davis SD, Leigh MW. Kinghorn B, et al. Ann Am Thorac Soc. 2023 Apr;20(4):539-547. doi: 10.1513/AnnalsATS.202206-524OC. Ann Am Thorac Soc. 2023. PMID: 36442147 Free PMC article.
Rationale: Primary ciliary dyskinesia (PCD) is characterized by impaired mucociliary clearance, recurrent respiratory infections, progressive airway damage, and obstructive lung disease. ...The mean (standard deviation) age was 8.5 (4.6) years, forced …
Rationale: Primary ciliary dyskinesia (PCD) is characterized by impaired mucociliary clearance, recurrent respiratory i …
158 results