Literature DB >> 27514592

Primary Ciliary Dyskinesia.

Michael R Knowles1, Maimoona Zariwala2, Margaret Leigh3.   

Abstract

Primary ciliary dyskinesia (PCD) is a recessive genetically heterogeneous disorder of motile cilia with chronic otosinopulmonary disease and organ laterality defects in ∼50% of cases. The prevalence of PCD is difficult to determine. Recent diagnostic advances through measurement of nasal nitric oxide and genetic testing has allowed rigorous diagnoses and determination of a robust clinical phenotype, which includes neonatal respiratory distress, daily nasal congestion, and wet cough starting early in life, along with organ laterality defects. There is early onset of lung disease in PCD with abnormal airflow mechanics and radiographic abnormalities detected in infancy and early childhood.
Copyright © 2016 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Genetic testing; Kartagener syndrome; Nasal nitric oxide; Primary ciliary dyskinesia

Mesh:

Substances:

Year:  2016        PMID: 27514592      PMCID: PMC4988337          DOI: 10.1016/j.ccm.2016.04.008

Source DB:  PubMed          Journal:  Clin Chest Med        ISSN: 0272-5231            Impact factor:   2.878


  87 in total

1.  Ciliary motility at light microscopy: a screening technique for ciliary defects.

Authors:  F Santamaria; M M de Santi; G Grillo; P Sarnelli; M Caterino; L Greco
Journal:  Acta Paediatr       Date:  1999-08       Impact factor: 2.299

2.  A human syndrome caused by immotile cilia.

Authors:  B A Afzelius
Journal:  Science       Date:  1976-07-23       Impact factor: 47.728

Review 3.  Mucus clearance as a primary innate defense mechanism for mammalian airways.

Authors:  Michael R Knowles; Richard C Boucher
Journal:  J Clin Invest       Date:  2002-03       Impact factor: 14.808

4.  Functional analysis of cilia and ciliated epithelial ultrastructure in healthy children and young adults.

Authors:  M A Chilvers; A Rutman; C O'Callaghan
Journal:  Thorax       Date:  2003-04       Impact factor: 9.139

5.  The secondary nature of ciliary (dis)orientation in secondary and primary ciliary dyskinesia.

Authors:  Mark Jorissen; Tom Willems
Journal:  Acta Otolaryngol       Date:  2004-05       Impact factor: 1.494

Review 6.  Regulation of mammalian ciliary beating.

Authors:  Matthias Salathe
Journal:  Annu Rev Physiol       Date:  2007       Impact factor: 19.318

7.  ATS/ERS recommendations for standardized procedures for the online and offline measurement of exhaled lower respiratory nitric oxide and nasal nitric oxide, 2005.

Authors: 
Journal:  Am J Respir Crit Care Med       Date:  2005-04-15       Impact factor: 21.405

8.  Effect of aerosolized uridine-5'-triphosphate on airway clearance with cough in patients with primary ciliary dyskinesia.

Authors:  P G Noone; W D Bennett; J A Regnis; K L Zeman; J L Carson; M King; R C Boucher; M R Knowles
Journal:  Am J Respir Crit Care Med       Date:  1999-07       Impact factor: 21.405

9.  Primary ciliary dyskinesia: diagnostic and phenotypic features.

Authors:  Peadar G Noone; Margaret W Leigh; Aruna Sannuti; Susan L Minnix; Johnny L Carson; Milan Hazucha; Maimoona A Zariwala; Michael R Knowles
Journal:  Am J Respir Crit Care Med       Date:  2003-12-04       Impact factor: 21.405

10.  Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia.

Authors:  Mark A Chilvers; Andrew Rutman; Christopher O'Callaghan
Journal:  J Allergy Clin Immunol       Date:  2003-09       Impact factor: 10.793

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  52 in total

1.  Proof of Concept: Very Rapid Tidal Breathing Nasal Nitric Oxide Sampling Discriminates Primary Ciliary Dyskinesia from Healthy Subjects.

Authors:  Mathias G Holgersen; June K Marthin; Kim G Nielsen
Journal:  Lung       Date:  2019-02-14       Impact factor: 2.584

2.  Primary ciliary dyskinesia: keep it on your radar.

Authors:  Margaret Rosenfeld; Lawrence E Ostrowski; Maimoona A Zariwala
Journal:  Thorax       Date:  2017-11-13       Impact factor: 9.139

3.  Mice with a Deletion of Rsph1 Exhibit a Low Level of Mucociliary Clearance and Develop a Primary Ciliary Dyskinesia Phenotype.

Authors:  Weining Yin; Alessandra Livraghi-Butrico; Patrick R Sears; Troy D Rogers; Kimberlie A Burns; Barbara R Grubb; Lawrence E Ostrowski
Journal:  Am J Respir Cell Mol Biol       Date:  2019-09       Impact factor: 6.914

4.  Transcriptional Response of Respiratory Epithelium to Nontuberculous Mycobacteria.

Authors:  Masashi Matsuyama; Andrew J Martins; Shamira Shallom; Olena Kamenyeva; Anuj Kashyap; Elizabeth P Sampaio; Juraj Kabat; Kenneth N Olivier; Adrian M Zelazny; John S Tsang; Steven M Holland
Journal:  Am J Respir Cell Mol Biol       Date:  2018-02       Impact factor: 6.914

Review 5.  Seeing cilia: imaging modalities for ciliary motion and clinical connections.

Authors:  Jacelyn E Peabody; Ren-Jay Shei; Brent M Bermingham; Scott E Phillips; Brett Turner; Steven M Rowe; George M Solomon
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2018-03-01       Impact factor: 5.464

6.  In vivo and in vitro observation of nasal ciliary motion in a guinea pig model.

Authors:  Chuan Pang; Fengwei An; Shiming Yang; Ning Yu; Daishi Chen; Lei Chen
Journal:  Exp Biol Med (Maywood)       Date:  2020-05-20

Review 7.  The genetic architecture of morphological abnormalities of the sperm tail.

Authors:  Aminata Touré; Guillaume Martinez; Zine-Eddine Kherraf; Caroline Cazin; Julie Beurois; Christophe Arnoult; Pierre F Ray; Charles Coutton
Journal:  Hum Genet       Date:  2020-01-16       Impact factor: 4.132

8.  Motile cilia of the male reproductive system require miR-34/miR-449 for development and function to generate luminal turbulence.

Authors:  Shuiqiao Yuan; Yue Liu; Hongying Peng; Chong Tang; Grant W Hennig; Zhuqing Wang; Li Wang; Tian Yu; Rachel Klukovich; Ying Zhang; Huili Zheng; Chen Xu; Jingwen Wu; Rex A Hess; Wei Yan
Journal:  Proc Natl Acad Sci U S A       Date:  2019-01-18       Impact factor: 11.205

9.  Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men.

Authors:  Yasmina Auguste; Valérie Delague; Jean-Pierre Desvignes; Guy Longepied; Audrey Gnisci; Pierre Besnier; Nicolas Levy; Christophe Beroud; André Megarbane; Catherine Metzler-Guillemain; Michael J Mitchell
Journal:  Am J Hum Genet       Date:  2018-08-16       Impact factor: 11.025

10.  Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.

Authors:  Adam J Shapiro; Stephanie D Davis; Deepika Polineni; Michele Manion; Margaret Rosenfeld; Sharon D Dell; Mark A Chilvers; Thomas W Ferkol; Maimoona A Zariwala; Scott D Sagel; Maureen Josephson; Lucy Morgan; Ozge Yilmaz; Kenneth N Olivier; Carlos Milla; Jessica E Pittman; M Leigh Anne Daniels; Marcus Herbert Jones; Ibrahim A Janahi; Stephanie M Ware; Sam J Daniel; Matthew L Cooper; Lawrence M Nogee; Billy Anton; Tori Eastvold; Lynn Ehrne; Elena Guadagno; Michael R Knowles; Margaret W Leigh; Valery Lavergne
Journal:  Am J Respir Crit Care Med       Date:  2018-06-15       Impact factor: 21.405

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