Literature DB >> 19818430

[Primary ciliary dyskinesia. Ciliopathies].

Miguel Armengot Carceller1, Manuel Mata Roig, Xavier Milara Payá, Julio Cortijo Gimeno.   

Abstract

Primary ciliary dyskinesia is a genetically inherited syndrome characterized by cilia immotility or dysmotility. Deficiency in mucociliary clearance produces chronic respiratory infections since birth, male sterility by spermatozoid immotility and situs inversus in 40-50% of patients (Kartagener's syndrome). Diagnosis is made by analyzing cilia motility with high-speed digital video and ciliar ultrastructure. The wide distribution and functions of the cilia in the body mean that this dysfunction can generate other ciliopathies apart from primary ciliary dyskinesia. Copyright 2008 Elsevier España, S.L. All rights reserved.

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Year:  2009        PMID: 19818430     DOI: 10.1016/j.otorri.2009.01.013

Source DB:  PubMed          Journal:  Acta Otorrinolaringol Esp        ISSN: 0001-6519


  4 in total

1.  Ciliary ultrastructure in patients with chronic rhinosinusitis and primary ciliary dyskinesia.

Authors:  Ricardo Cassiano Demarco; Edwin Tamashiro; Maria Rossato; Maria Dolores Seabra Ferreira; Fabiana Cardoso Pereira Valera; Wilma T Anselmo-Lima
Journal:  Eur Arch Otorhinolaryngol       Date:  2013-01-05       Impact factor: 2.503

2.  Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener Syndrome.

Authors:  Xiao Shi; Hao Geng; Hui Yu; Xiaolong Hu; Guanxiong Wang; Jin Yang; Hui Zhao
Journal:  Biomed Res Int       Date:  2022-06-26       Impact factor: 3.246

3.  Critical Evaluation of Sinonasal Disease in 64 Adults with Primary Ciliary Dyskinesia.

Authors:  Emilie Bequignon; Laurence Dupuy; Francoise Zerah-Lancner; Laurence Bassinet; Isabelle Honoré; Marie Legendre; Marie Devars du Mayne; Virginie Escabasse; Bruno Crestani; Bernard Maître; Estelle Escudier; André Coste; Jean-François Papon
Journal:  J Clin Med       Date:  2019-05-07       Impact factor: 4.241

4.  Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital.

Authors:  Mariana Dalbo Contrera Toro; José Dirceu Ribeiro; Fernando Augusto Lima Marson; Érica Ortiz; Adyléia Aparecida Dalbo Contrera Toro; Carmen Silvia Bertuzzo; Marcus Herbert Jones; Eulália Sakano
Journal:  Genes (Basel)       Date:  2022-07-15       Impact factor: 4.141

  4 in total

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