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Akademický článek

Priorities and barriers for research related to primary ciliary dyskinesia

Autor: Myrofora Goutaki, Yin Ting Lam, Bruna Rubbo, James D. Chalmers, Panayiotis Kouis, Gemma Marsh, Jean-François Papon, Johanna Raidt, Phil Robinson, Laura Behan, Jane S. Lucas

Publikováno v: ERJ Open Research, Vol 10, Iss 5 (2024)

Background Despite advances in primary ciliary dyskinesia (PCD) research, many questions remain; diagnosis is complex and no disease-specific therapies exist. Using a mixed-methods approach, we aimed to identify priorities for clinical and epidemiolo

Externí odkaz: https://doaj.org/article/1b74592cea244355a1daa4a5db65decb

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Akademický článek

Associations between respiratory pathogens and lung function in primary ciliary dyskinesia: cross-sectional analysis from the PROVALF-PCD cohort

Autor: Bruna Rubbo, Avni Kant, Kewei Zhang, Annalisa Allegorico, Simona Basilicata, Mieke Boon, Melissa Borrelli, Claudia Calogero, Siobhán B. Carr, Mary Carroll, Carolina Constant, Silvia Castillo Corullón, Harriet Corvol, Renato Cutrera, Stefanie Dillenhöfer, Nagehan Emiralioglu, Ela Eralp, Sanem Eryilmaz Polat, Laura Gardner, Yasemin Gokdemir, Amanda Harris, Claire Hogg, Bulent Karadag, Helene Kobbernagel, Cordula Koerner-Rettberg, Panayiotis Kouis, Natalie Lorent, Markella Marcou, June K. Mathin, Vendula Martinu, Antonio Moreno-Galdó, Lucy Morgan, Kim G. Nielsen, Heymut Omran, Ugur Ozcelik, Petr Pohunek, Johanna Raidt, Phil Robinson, Sandra Rovira-Amigo, Francesca Santamaria, Anne Schlegtendal, Aline Tamalet, Guillaume Thouvenin, Nicola Ullmann, Woolf Walker, Panayiotis Yiallouros, Claudia E. Kuehni, Philipp Latzin, Nicole Beydon, Jane S. Lucas

Publikováno v: ERJ Open Research, Vol 10, Iss 5 (2024)

Introduction Respiratory pathogens are frequently isolated from airway samples in primary ciliary dyskinesia (PCD) patients. Few studies have investigated associations between these pathogens and lung function, with current management based on eviden

Externí odkaz: https://doaj.org/article/64e53d57433e415b84d128a5a43870e1

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Akademický článek

Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7

Autor: Alina Wilken, Inga Marlena Höben, Alexander Wolter, Niki Tomas Loges, Heike Olbrich, Isabella Aprea, Bernd Dworniczak, Johanna Raidt, Heymut Omran

Publikováno v: Cells, Vol 13, Iss 14, p 1200 (2024)

Disease-causing bi-allelic DNA variants in CCDC39 and CCDC40 are frequent causes of the hereditary disorder of primary ciliary dyskinesia (PCD). The encoded proteins form a molecular ruler complex, crucial for maintaining the 96 nm repeat units along

Externí odkaz: https://doaj.org/article/2eb23d7db69e4ee5941139133f745972

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Akademický článek

Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement

Autor: Rim Hjeij, Joseph Leslie, Hoda Rizk, Bernd Dworniczak, Heike Olbrich, Johanna Raidt, Sebastian Felix Nepomuk Bode, Alice Gardham, Karen Stals, Mohammad Al-Haggar, Engy Osman, Andrew Crosby, Tarek Eldesoky, Emma Baple, Heymut Omran

Publikováno v: Cells, Vol 13, Iss 12, p 1017 (2024)

Defects in motile cilia, termed motile ciliopathies, result in clinical manifestations affecting the respiratory and reproductive system, as well as laterality defects and hydrocephalus. We previously defined biallelic MNS1 variants causing situs inv

Externí odkaz: https://doaj.org/article/fc5c579b6c0a47f193de2479c29dfa89

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Akademický článek

Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis

Autor: Andre Schramm, Johanna Raidt, Anika Gross, Maik Böhmer, Achim Georg Beule, Heymut Omran

Publikováno v: Frontiers in Molecular Biosciences, Vol 10 (2023)

Background: Primary ciliary dyskinesia (PCD; MIM 242650) is a rare genetic disorder characterized by malfunction of the motile cilia resulting in reduced mucociliary clearance of the airways. Together with recurring infections of the lower respirator

Externí odkaz: https://doaj.org/article/f3f02a465c4341dabe4d6251a9bd602d

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