High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

Autor: Shoemark, A, Moya, E, Hirst, RA, Patel, MP, Robson, EA, Hayward, J, Scully, J, Fassad, MR, Lamb, W, Schmidts, M, Dixon, M, Patel-King, RS, Rogers, AV, Rutman, A, Jackson, CL, Goggin, P, Rubbo, B, Ollosson, S, Carr, S, Walker, W, Adler, B, Loebinger, MR, Wilson, R, Bush, A, Williams, H, Boustred, C, Jenkins, L, Sheridan, E, Chung, EMK, Watson, CM, Cullup, T, Lucas, JS, Kenia, P, O’Callaghan, C, King, SM, Hogg, C, Mitchison, HM

Rationale Primary ciliary dyskinesia is a genetically heterogeneous inherited condition characterised by progressive lung disease arising from abnormal cilia function. Approximately half of patients have situs inversus. The estimated prevalence of pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::191a9da350332b1bfc465837cb943101
https://eprints.whiterose.ac.uk/146744/1/nihms931245.pdf

New insights in primary ciliary dyskinesia

Autor: Reula, A, Lucas, JS, Moreno-Galdo, A, Romero, T, Milara, X, Carda, C, Mata-Roig, M, Escribano, A, Dasi, F, Armengot-Carceller, M

Publikováno v: Expert Opinion on Orphan Drugs
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

Introduction: Primary ciliary dyskinesia (PCD) is a rare genetic disease with an estimated prevalence of 1:20.000 births. It is characterized by abnormal motility of cilia, leading to impaired mucociliary clearance, and subsequent infection and chron

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4a969d28b5b769ec1c1a8c32bf9f1090
https://www.fundanet.incliva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2302

Factors influencing age at diagnosis of primary ciliary dyskinesia in European children.ERS Task Force on Primary Ciliary Dyskinesia in Children

Autor: Kuehni, Ce, Frischer, T, Strippoli, Mp, Maurer, E, Bush, A, Nielsen, Kg, Escribano, A, Lucas, Js, Yiallouros, P, Omran, H, Eber, E, O'Callaghan, C, Snijders, D, Barbato, Angelo, ERS Task Force on Primary Ciliary Dyskinesia in Children

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3657::608414d5ab689a8829692d471866f7a6
http://hdl.handle.net/11577/2422518

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