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Quoted phrase not found in phrase index: "Primary ciliary dyskinesia 17"
Page 1
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 …
Sinus Development and Pneumatization in a Primary Ciliary Dyskinesia Cohort.
Pappa AK, Sullivan KM, Lopez EM, Adams KN, Zanation AM, Ebert CS Jr, Thorp BD, Senior BA, Leigh MW, Knowles MR, Kimple AJ. Pappa AK, et al. Am J Rhinol Allergy. 2021 Jan;35(1):72-76. doi: 10.1177/1945892420933175. Epub 2020 Jun 19. Am J Rhinol Allergy. 2021. PMID: 32551925 Free PMC article.
BACKGROUND: Primary ciliary dyskinesia (PCD) is a genetically diverse disease which causes impaired mucociliary clearance, and results in pulmonary, otologic, and rhinologic disease in affected patients. ...Patients were age- and gender-matched to a control g …
BACKGROUND: Primary ciliary dyskinesia (PCD) is a genetically diverse disease which causes impaired mucociliary clearan …
A multi-disciplinary, comprehensive approach to management of children with heterotaxy.
Saba TG, Geddes GC, Ware SM, Schidlow DN, Del Nido PJ, Rubalcava NS, Gadepalli SK, Stillwell T, Griffiths A, Bennett Murphy LM, Barber AT, Leigh MW, Sabin N, Shapiro AJ. Saba TG, et al. Orphanet J Rare Dis. 2022 Sep 9;17(1):351. doi: 10.1186/s13023-022-02515-2. Orphanet J Rare Dis. 2022. PMID: 36085154 Free PMC article. Review.
Many patients with HTX have chronic lung disease and should be screened for primary ciliary dyskinesia, a condition of respiratory cilia impairment leading to bronchiectasis. ...Optimal care of children with HTX requires a cohesive team of primary care …
Many patients with HTX have chronic lung disease and should be screened for primary ciliary dyskinesia, a condition of …
Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings.
Oh J, Lee JS, Park MS, Kang YA, Cho HJ, Kim SY, Jung J, Yoon SO, Kim KW. Oh J, et al. Yonsei Med J. 2024 Jan;65(1):48-54. doi: 10.3349/ymj.2023.0238. Yonsei Med J. 2024. PMID: 38154480 Free PMC article.
PURPOSE: To assess the diagnostic potential of whole-exome sequencing (WES) and elucidate the clinical and genetic characteristics of primary ciliary dyskinesia (PCD) in the Korean population. MATERIALS AND METHODS: Forty-seven patients clinically suspected o …
PURPOSE: To assess the diagnostic potential of whole-exome sequencing (WES) and elucidate the clinical and genetic characteristics of pri …
Sputum from patients with primary ciliary dyskinesia contains high numbers of dysfunctional neutrophils and inhibits efferocytosis.
Blanter M, Cockx M, Wittebols L, Abouelasrar Salama S, De Bondt M, Berghmans N, Pörtner N, Vanbrabant L, Lorent N, Gouwy M, Boon M, Struyf S. Blanter M, et al. Respir Res. 2022 Dec 17;23(1):359. doi: 10.1186/s12931-022-02280-7. Respir Res. 2022. PMID: 36528664 Free PMC article.
BACKGROUND: Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by recurrent airway infection and inflammation. ...
BACKGROUND: Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by recurrent airway infection and infl …
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 …
Chemoattractants and cytokines in primary ciliary dyskinesia and cystic fibrosis: key players in chronic respiratory diseases.
Cockx M, Gouwy M, Van Damme J, Struyf S. Cockx M, et al. Cell Mol Immunol. 2018 Apr;15(4):312-323. doi: 10.1038/cmi.2017.118. Epub 2017 Nov 27. Cell Mol Immunol. 2018. PMID: 29176750 Free PMC article. Review.
Patients with primary ciliary dyskinesia (PCD) and cystic fibrosis (CF), two inherited disorders, suffer from recurrent airway infections characterized by persistent bacterial colonization and uncontrollable inflammation. ...Furthermore, in CF, airway …
Patients with primary ciliary dyskinesia (PCD) and cystic fibrosis (CF), two inherited disorders, suffer from re …
Developmental and behavioral problems in preschool-aged primary ciliary dyskinesia patients.
Zengin Akkus P, Gharibzadeh Hizal M, Ilter Bahadur E, Ozmert EN, Eryilmaz Polat S, Ozdemir G, Karahan S, Yalcin E, Dogru Ersoz D, Kiper N, Ozcelik U. Zengin Akkus P, et al. Eur J Pediatr. 2019 Jul;178(7):995-1003. doi: 10.1007/s00431-019-03382-z. Epub 2019 Apr 27. Eur J Pediatr. 2019. PMID: 31030258
Primary ciliary dyskinesia (PCD) causes a broad spectrum of disease. This study aims to explore the developmental, behavioral, and social-emotional aspects of preschool-aged children with PCD. Fourteen PCD, 17 cystic fibrosis (CF) patients and 15 healt …
Primary ciliary dyskinesia (PCD) causes a broad spectrum of disease. This study aims to explore the developmental, beha …
CT imaging features of paranasal sinuses in children with primary ciliary dyskinesia.
Lyu H, Guo Z, Chen C, Duan B, Xu Z, Chen W. Lyu H, et al. Acta Otolaryngol. 2022 Sep-Dec;142(9-12):691-695. doi: 10.1080/00016489.2022.2118371. Epub 2022 Sep 10. Acta Otolaryngol. 2022. PMID: 36093609
BACKGROUND: Primary ciliary dyskinesia (PCD) causes impaired mucociliary clearance and results in chronic pulmonary and sinonasal symptoms. ...The correlation between age and Lund-Mackay score was analyzed. RESULTS: 100% (17/17) had rhinosinusit …
BACKGROUND: Primary ciliary dyskinesia (PCD) causes impaired mucociliary clearance and results in chronic pulmonary and …
Analysis of the clinical features of Japanese patients with primary ciliary dyskinesia.
Chiyonobu K, Xu Y, Feng G, Saso S, Ogawa S, Ikejiri M, Abo M, Kondo M, Gotoh S, Kubo H, Hosoki K, Nagao M, Fujisawa T, Nakatani K, Takeuchi K. Chiyonobu K, et al. Auris Nasus Larynx. 2022 Apr;49(2):248-257. doi: 10.1016/j.anl.2021.08.003. Epub 2021 Aug 26. Auris Nasus Larynx. 2022. PMID: 34454779 Free article.
OBJECTIVE: Primary ciliary dyskinesia (PCD) is a rare hereditary disease. Most reports of PCD in Japan are case reports, and clinical analysis has not been performed. ...Data on the following items were collected and analyzed: age at first visit to the hospit …
OBJECTIVE: Primary ciliary dyskinesia (PCD) is a rare hereditary disease. Most reports of PCD in Japan are case reports …
89 results