X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease resulting in reduced mucus clearance and impaired lung function. Here, the authors show that mutations in PIH1D3 are responsible for an X-linked form of PCD, affecting assembly of a subset of inner arm dyneins.
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Nature Portfolio
2017
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oai:doaj.org-article:42fb48d78cb043158c1b5f52a9b9ea5e2021-12-02T15:38:49ZX-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D310.1038/ncomms142792041-1723https://doaj.org/article/42fb48d78cb043158c1b5f52a9b9ea5e2017-02-01T00:00:00Zhttps://doi.org/10.1038/ncomms14279https://doaj.org/toc/2041-1723Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease resulting in reduced mucus clearance and impaired lung function. Here, the authors show that mutations in PIH1D3 are responsible for an X-linked form of PCD, affecting assembly of a subset of inner arm dyneins.Chiara OlceseMitali P. PatelAmelia ShoemarkSanteri KiviluotoMarie LegendreHywel J. WilliamsCara K. VaughanJane HaywardAlice GoldenbergRichard D. EmesMustafa M. MunyeLaura DyerThomas CahillJeremy BevillardCorinne GehrigMichel GuipponiSandra ChantotPhilippe DuquesnoyLucie ThomasLudovic JeansonBruno CopinAline TamaletChristel Thauvin-RobinetJean- François PaponAntoine GarinIsabelle PinGabriella VeraPaul AuroraMahmoud R. FassadLucy JenkinsChristopher BoustredThomas CullupMellisa DixonAlexandros OnoufriadisAndrew BushEddie M. K. ChungStylianos E. AntonarakisMichael R. LoebingerRobert WilsonMiguel ArmengotEstelle EscudierClaire HoggUK10K Rare GroupSerge AmselemZhaoxia SunLucia BartoloniJean-Louis BlouinHannah M. MitchisonNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-15 (2017) |
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DOAJ |
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EN |
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Science Q |
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Science Q Chiara Olcese Mitali P. Patel Amelia Shoemark Santeri Kiviluoto Marie Legendre Hywel J. Williams Cara K. Vaughan Jane Hayward Alice Goldenberg Richard D. Emes Mustafa M. Munye Laura Dyer Thomas Cahill Jeremy Bevillard Corinne Gehrig Michel Guipponi Sandra Chantot Philippe Duquesnoy Lucie Thomas Ludovic Jeanson Bruno Copin Aline Tamalet Christel Thauvin-Robinet Jean- François Papon Antoine Garin Isabelle Pin Gabriella Vera Paul Aurora Mahmoud R. Fassad Lucy Jenkins Christopher Boustred Thomas Cullup Mellisa Dixon Alexandros Onoufriadis Andrew Bush Eddie M. K. Chung Stylianos E. Antonarakis Michael R. Loebinger Robert Wilson Miguel Armengot Estelle Escudier Claire Hogg UK10K Rare Group Serge Amselem Zhaoxia Sun Lucia Bartoloni Jean-Louis Blouin Hannah M. Mitchison X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 |
| description |
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease resulting in reduced mucus clearance and impaired lung function. Here, the authors show that mutations in PIH1D3 are responsible for an X-linked form of PCD, affecting assembly of a subset of inner arm dyneins. |
| format |
article |
| author |
Chiara Olcese Mitali P. Patel Amelia Shoemark Santeri Kiviluoto Marie Legendre Hywel J. Williams Cara K. Vaughan Jane Hayward Alice Goldenberg Richard D. Emes Mustafa M. Munye Laura Dyer Thomas Cahill Jeremy Bevillard Corinne Gehrig Michel Guipponi Sandra Chantot Philippe Duquesnoy Lucie Thomas Ludovic Jeanson Bruno Copin Aline Tamalet Christel Thauvin-Robinet Jean- François Papon Antoine Garin Isabelle Pin Gabriella Vera Paul Aurora Mahmoud R. Fassad Lucy Jenkins Christopher Boustred Thomas Cullup Mellisa Dixon Alexandros Onoufriadis Andrew Bush Eddie M. K. Chung Stylianos E. Antonarakis Michael R. Loebinger Robert Wilson Miguel Armengot Estelle Escudier Claire Hogg UK10K Rare Group Serge Amselem Zhaoxia Sun Lucia Bartoloni Jean-Louis Blouin Hannah M. Mitchison |
| author_facet |
Chiara Olcese Mitali P. Patel Amelia Shoemark Santeri Kiviluoto Marie Legendre Hywel J. Williams Cara K. Vaughan Jane Hayward Alice Goldenberg Richard D. Emes Mustafa M. Munye Laura Dyer Thomas Cahill Jeremy Bevillard Corinne Gehrig Michel Guipponi Sandra Chantot Philippe Duquesnoy Lucie Thomas Ludovic Jeanson Bruno Copin Aline Tamalet Christel Thauvin-Robinet Jean- François Papon Antoine Garin Isabelle Pin Gabriella Vera Paul Aurora Mahmoud R. Fassad Lucy Jenkins Christopher Boustred Thomas Cullup Mellisa Dixon Alexandros Onoufriadis Andrew Bush Eddie M. K. Chung Stylianos E. Antonarakis Michael R. Loebinger Robert Wilson Miguel Armengot Estelle Escudier Claire Hogg UK10K Rare Group Serge Amselem Zhaoxia Sun Lucia Bartoloni Jean-Louis Blouin Hannah M. Mitchison |
| author_sort |
Chiara Olcese |
| title |
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 |
| title_short |
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 |
| title_full |
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 |
| title_fullStr |
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 |
| title_full_unstemmed |
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 |
| title_sort |
x-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor pih1d3 |
| publisher |
Nature Portfolio |
| publishDate |
2017 |
| url |
https://doaj.org/article/42fb48d78cb043158c1b5f52a9b9ea5e |
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