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Page 1
Current and Future Treatments in Primary Ciliary Dyskinesia.
Paff T, Omran H, Nielsen KG, Haarman EG. Paff T, et al. Int J Mol Sci. 2021 Sep 11;22(18):9834. doi: 10.3390/ijms22189834. Int J Mol Sci. 2021. PMID: 34575997 Free PMC article. Review.
Primary ciliary dyskinesia (PCD) is a rare genetic ciliopathy in which mucociliary clearance is disturbed by the abnormal motion of cilia or there is a severe reduction in the generation of multiple motile cilia. ...
Primary ciliary dyskinesia (PCD) is a rare genetic ciliopathy in which mucociliary clearance is disturbed by the abnorm …
Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review.
Peng B, Gao YH, Xie JQ, He XW, Wang CC, Xu JF, Zhang GJ. Peng B, et al. Orphanet J Rare Dis. 2022 Jul 19;17(1):283. doi: 10.1186/s13023-022-02427-1. Orphanet J Rare Dis. 2022. PMID: 35854386 Free PMC article. Review.
BACKGROUND: Primary ciliary dyskinesia (PCD) represents a highly heterogenous disorder with extensive clinical and genetic patterns among populations of different geographic location and ethnic origin. ...More than half of genetic variants were loss-of-functi …
BACKGROUND: Primary ciliary dyskinesia (PCD) represents a highly heterogenous disorder with extensive clinical and gene …
Nasal nitric oxide screening for primary ciliary dyskinesia: systematic review and meta-analysis.
Collins SA, Gove K, Walker W, Lucas JS. Collins SA, et al. Eur Respir J. 2014 Dec;44(6):1589-99. doi: 10.1183/09031936.00088614. Epub 2014 Oct 16. Eur Respir J. 2014. PMID: 25323224 Free article. Review.
Nasal nitric oxide (nNO) concentrations are low in patients with primary ciliary dyskinesia (PCD) providing a noninvasive screening test. We conducted a systematic review of the literature to examine the utility of nNO in screening for PCD, in particular 1) d …
Nasal nitric oxide (nNO) concentrations are low in patients with primary ciliary dyskinesia (PCD) providing a noninvasi …
Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia.
Brennan SK, Ferkol TW, Davis SD. Brennan SK, et al. Int J Mol Sci. 2021 Jul 31;22(15):8272. doi: 10.3390/ijms22158272. Int J Mol Sci. 2021. PMID: 34361034 Free PMC article. Review.
Primary ciliary dyskinesia (PCD) is a rare inherited condition affecting motile cilia and leading to organ laterality defects, recurrent sino-pulmonary infections, bronchiectasis, and severe lung disease. ...
Primary ciliary dyskinesia (PCD) is a rare inherited condition affecting motile cilia and leading to organ laterality d …
[Primary ciliary dyskinesia with HYDIN gene mutations in a child and literature review].
Chen LL, Yang YG, Wu JZ, Chen XR. Chen LL, et al. Zhonghua Er Ke Za Zhi. 2017 Apr 2;55(4):304-307. doi: 10.3760/cma.j.issn.0578-1310.2017.04.014. Zhonghua Er Ke Za Zhi. 2017. PMID: 28441829 Review. Chinese.
Objective: To review children's primary ciliary dyskinesia (PCD) in the pathogenesis, clinical manifestation, diagnosis and treatment. Method: To summarize and analyze the clinical data of a patient who was admitted to the first affiliated hospital of Xiamen …
Objective: To review children's primary ciliary dyskinesia (PCD) in the pathogenesis, clinical manifestation, diagnosis …
Role of Nasal Nitric Oxide in Primary Ciliary Dyskinesia and Other Respiratory Conditions in Children.
Paternò S, Pisani L, Zanconato S, Ferraro VA, Carraro S. Paternò S, et al. Int J Mol Sci. 2023 Nov 10;24(22):16159. doi: 10.3390/ijms242216159. Int J Mol Sci. 2023. PMID: 38003348 Free PMC article. Review.
Here, we conducted a narrative review of the literature to examine the relationship between nNO and some respiratory diseases with a particular focus on primary ciliary dyskinesia (PCD). A total of 115 papers were assessed, and 50 were eventually included in …
Here, we conducted a narrative review of the literature to examine the relationship between nNO and some respiratory diseases with a particu …
Insight on multiple morphological abnormalities of sperm flagella in male infertility: what is new?
Wang WL, Tu CF, Tan YQ. Wang WL, et al. Asian J Androl. 2020 May-Jun;22(3):236-245. doi: 10.4103/aja.aja_53_19. Asian J Androl. 2020. PMID: 31210147 Free PMC article. Review.
In this review, we elucidate the definition of MMAF from a systematical view, the difference between MMAF and other conditions with asthenoteratozoospermia or asthenozoospermia (such as primary mitochondrial sheath defects and primary ciliary dyskinesia …
In this review, we elucidate the definition of MMAF from a systematical view, the difference between MMAF and other conditions with asthenot …
Underlying causes and outcomes of recurrent pneumonia in hospitalized children.
Mei M, Dai D, Guo Z, Zhang C, Liu J, Qi Y, Wang X, Wang L, Qian L. Mei M, et al. Pediatr Pulmonol. 2023 Jun;58(6):1674-1682. doi: 10.1002/ppul.26374. Epub 2023 Mar 21. Pediatr Pulmonol. 2023. PMID: 36919525 Review.
RESULTS: Of 551 children with RP, 483 (87.7%) manifested underlying causes, with recurrent aspiration (127, 23.0%), primary immunodeficiency (PID) (91, 16.5%), and congenital heart diseases (63, 11.4%) being the most common. Genetic defects were identified in about a quart …
RESULTS: Of 551 children with RP, 483 (87.7%) manifested underlying causes, with recurrent aspiration (127, 23.0%), primary immunodef …
The ciliopathies: a transitional model into systems biology of human genetic disease.
Davis EE, Katsanis N. Davis EE, et al. Curr Opin Genet Dev. 2012 Jun;22(3):290-303. doi: 10.1016/j.gde.2012.04.006. Epub 2012 May 23. Curr Opin Genet Dev. 2012. PMID: 22632799 Free PMC article. Review.
The last decade has witnessed an explosion in the identification of genes, mutations in which appear sufficient to cause clinical phenotypes in humans. This is especially true for disorders of ciliary dysfunction in which an excess of 50 causal loci are now known; t …
The last decade has witnessed an explosion in the identification of genes, mutations in which appear sufficient to cause clinical phenotypes …
Novel tools to unravel molecular mechanisms in cilia-related disorders.
Fliegauf M, Omran H. Fliegauf M, et al. Trends Genet. 2006 May;22(5):241-5. doi: 10.1016/j.tig.2006.03.002. Epub 2006 Mar 24. Trends Genet. 2006. PMID: 16564109 Review.
These data from genome, proteome and transcriptome analyses will facilitate the systematic discovery and understanding of genes responsible for human cilia-related diseases, such as primary ciliary dyskinesia, polycystic kidney disease and male sterility....
These data from genome, proteome and transcriptome analyses will facilitate the systematic discovery and understanding of genes responsible …
15 results