Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis
Ryan Dhindsa et al. conducted an exome-wide association study to identify a rare variant in SPDL1 as a risk factor for idiopathic pulmonary fibrosis (IPF). Their findings implicate mitotic checkpoint signalling as a new mechanism underlying IPF.
Guardado en:
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Nature Portfolio
2021
|
Materias: | |
Acceso en línea: | https://doaj.org/article/5ca8ca31c47044f2a6b834855f2cbf1a |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
id |
oai:doaj.org-article:5ca8ca31c47044f2a6b834855f2cbf1a |
---|---|
record_format |
dspace |
spelling |
oai:doaj.org-article:5ca8ca31c47044f2a6b834855f2cbf1a2021-12-02T11:44:59ZIdentification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis10.1038/s42003-021-01910-y2399-3642https://doaj.org/article/5ca8ca31c47044f2a6b834855f2cbf1a2021-03-01T00:00:00Zhttps://doi.org/10.1038/s42003-021-01910-yhttps://doaj.org/toc/2399-3642Ryan Dhindsa et al. conducted an exome-wide association study to identify a rare variant in SPDL1 as a risk factor for idiopathic pulmonary fibrosis (IPF). Their findings implicate mitotic checkpoint signalling as a new mechanism underlying IPF.Ryan S. DhindsaJohan MattssonAbhishek NagQuanli WangLouise V. WainRichard AllenEleanor M. WigmoreKristina IbanezDimitrios VitsiosSri V. V. DeeviSebastian WasilewskiMaria KarlssonGlenda LassiHenric OlssonDaniel MuthasSusan MonkleyAlex MackayLynne MurraySimon YoungCarolina HaefligerFinnGen ConsortiumToby M. MaherMaria G. BelvisiGisli JenkinsPhilip L. MolyneauxAdam PlattSlavé PetrovskiNature PortfolioarticleBiology (General)QH301-705.5ENCommunications Biology, Vol 4, Iss 1, Pp 1-8 (2021) |
institution |
DOAJ |
collection |
DOAJ |
language |
EN |
topic |
Biology (General) QH301-705.5 |
spellingShingle |
Biology (General) QH301-705.5 Ryan S. Dhindsa Johan Mattsson Abhishek Nag Quanli Wang Louise V. Wain Richard Allen Eleanor M. Wigmore Kristina Ibanez Dimitrios Vitsios Sri V. V. Deevi Sebastian Wasilewski Maria Karlsson Glenda Lassi Henric Olsson Daniel Muthas Susan Monkley Alex Mackay Lynne Murray Simon Young Carolina Haefliger FinnGen Consortium Toby M. Maher Maria G. Belvisi Gisli Jenkins Philip L. Molyneaux Adam Platt Slavé Petrovski Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis |
description |
Ryan Dhindsa et al. conducted an exome-wide association study to identify a rare variant in SPDL1 as a risk factor for idiopathic pulmonary fibrosis (IPF). Their findings implicate mitotic checkpoint signalling as a new mechanism underlying IPF. |
format |
article |
author |
Ryan S. Dhindsa Johan Mattsson Abhishek Nag Quanli Wang Louise V. Wain Richard Allen Eleanor M. Wigmore Kristina Ibanez Dimitrios Vitsios Sri V. V. Deevi Sebastian Wasilewski Maria Karlsson Glenda Lassi Henric Olsson Daniel Muthas Susan Monkley Alex Mackay Lynne Murray Simon Young Carolina Haefliger FinnGen Consortium Toby M. Maher Maria G. Belvisi Gisli Jenkins Philip L. Molyneaux Adam Platt Slavé Petrovski |
author_facet |
Ryan S. Dhindsa Johan Mattsson Abhishek Nag Quanli Wang Louise V. Wain Richard Allen Eleanor M. Wigmore Kristina Ibanez Dimitrios Vitsios Sri V. V. Deevi Sebastian Wasilewski Maria Karlsson Glenda Lassi Henric Olsson Daniel Muthas Susan Monkley Alex Mackay Lynne Murray Simon Young Carolina Haefliger FinnGen Consortium Toby M. Maher Maria G. Belvisi Gisli Jenkins Philip L. Molyneaux Adam Platt Slavé Petrovski |
author_sort |
Ryan S. Dhindsa |
title |
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis |
title_short |
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis |
title_full |
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis |
title_fullStr |
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis |
title_full_unstemmed |
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis |
title_sort |
identification of a missense variant in spdl1 associated with idiopathic pulmonary fibrosis |
publisher |
Nature Portfolio |
publishDate |
2021 |
url |
https://doaj.org/article/5ca8ca31c47044f2a6b834855f2cbf1a |
work_keys_str_mv |
AT ryansdhindsa identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT johanmattsson identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT abhisheknag identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT quanliwang identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT louisevwain identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT richardallen identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT eleanormwigmore identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT kristinaibanez identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT dimitriosvitsios identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT srivvdeevi identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT sebastianwasilewski identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT mariakarlsson identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT glendalassi identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT henricolsson identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT danielmuthas identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT susanmonkley identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT alexmackay identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT lynnemurray identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT simonyoung identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT carolinahaefliger identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT finngenconsortium identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT tobymmaher identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT mariagbelvisi identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT gislijenkins identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT philiplmolyneaux identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT adamplatt identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis AT slavepetrovski identificationofamissensevariantinspdl1associatedwithidiopathicpulmonaryfibrosis |
_version_ |
1718395283139723264 |