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To beat, or not to beat, that is question! The spectrum of ciliopathies.
Kempeneers, Céline; Chilvers, Mark A.
Afiliação
  • Kempeneers C; Pediatric Respirology, Department of Pediatrics, University Hospital Liège, Liège, Belgium.
  • Chilvers MA; Division of Respirology, Department of Pediatrics, University of British Columbia and British Columbia Children's Hospital, Vancouver, BC, Canada.
Pediatr Pulmonol ; 53(8): 1122-1129, 2018 08.
Article em En | MEDLINE | ID: mdl-29938933
Cilia are widely distributed throughout the human body, and have numerous roles in physiology, development, and disease. Ciliary ultrastructure is complex, consisting of nine parallel microtubules doublets, with or without motor dynein arms and a central pair of microtubules. Classification of cilia has evolved over time, and currently, four main classes are described: motile and non-motile cilia with a "9 + 2" structure, and motile and non-motile cilia with a "9 + 0" structure, which depend on the presence or absence of dynein arms and a central pair. Ciliopathies are inherited multisystem disorders of cilia, and may present with a varied spectrum of genotypes and phenotypes. Motor and sensory ciliopathies were historically considered as distinct dysfunctions of motile and non-motile cilia, but recent data indicate that the classical features of motor and sensory cilia may overlap.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ciliopatias Limite: Humans Idioma: En Revista: Pediatr Pulmonol Assunto da revista: PEDIATRIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Bélgica País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ciliopatias Limite: Humans Idioma: En Revista: Pediatr Pulmonol Assunto da revista: PEDIATRIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Bélgica País de publicação: Estados Unidos