نتایج جستجو برای: ciliopathy

تعداد نتایج: 423  

2015
Sandra Habbig Max Christoph Liebau

BACKGROUND Primary cilia are membrane-bound microtubule-based protuberances of the cell membrane projecting to the extracellular environment. While little attention was paid to this subcellular structure over a long time, recent research has highlighted multiple cellular functions of primary cilia and has brought cilia to the focus of medical and cell biological research. FINDINGS Cilia are n...

Journal: :American journal of human genetics 2009
Philippe Duquesnoy Estelle Escudier Laetitia Vincensini Judy Freshour Anne-Marie Bridoux André Coste Antoine Deschildre Jacques de Blic Marie Legendre Guy Montantin Henrique Tenreiro Anne-Marie Vojtek Céline Loussert Annick Clément Denise Escalier Philippe Bastin David R Mitchell Serge Amselem

Cilia and flagella are evolutionarily conserved structures that play various physiological roles in diverse cell types. Defects in motile cilia result in primary ciliary dyskinesia (PCD), the most prominent ciliopathy, characterized by the association of respiratory symptoms, male infertility, and, in nearly 50% of cases, situs inversus. So far, most identified disease-causing mutations involve...

Journal: :Science Translational Medicine 2021

Combined induced pluripotent stem cells and airway-on-a-chip establish the global axis of planar cell polarity in patient-derived airway sheet.

Journal: :Translational science of rare diseases 2023

BACKGROUND: Ciliary dysfunction underlies the pathogenesis of both heterotaxy syndrome and primary ciliary dyskinesia (PCD), often with overlapping genetic variants. OBJECTIVE: This case series aims to describe testing postoperative outcomes for infants heterotaxy-associated congenital heart disease (H-CHD) pathogenic variants in genes associated structure or function. METHODS: Infants who unde...

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