Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells

Katherine A. Wood; Charlie F. Rowlands; Huw B. Thomas; Steven Woods; Julieta O’Flaherty; Sofia Douzgou; Susan J. Kimber; William G. Newman; Raymond T. O’Keefe

doi:10.1371/journal.pone.0233582

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Open Access

Peer-reviewed

Research Article

Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells

Katherine A. Wood,

Roles Conceptualization, Data curation, Formal analysis, Investigation, Validation, Visualization, Writing – original draft, Writing – review & editing

Affiliations Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom, Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Manchester University NHS Foundation Trust, Manchester, United Kingdom

http://orcid.org/0000-0002-6459-2127

⨯
Charlie F. Rowlands,

Roles Data curation, Formal analysis, Investigation, Software, Writing – review & editing

Affiliations Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom, Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Manchester University NHS Foundation Trust, Manchester, United Kingdom
⨯
Huw B. Thomas,

Roles Data curation, Formal analysis, Investigation, Validation, Writing – review & editing

Affiliation Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom

http://orcid.org/0000-0001-9626-9706

⨯
Steven Woods,

Roles Formal analysis, Investigation, Methodology, Resources, Writing – review & editing

Affiliation Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom
⨯
Julieta O’Flaherty,

Roles Investigation, Methodology, Resources, Writing – review & editing

Affiliation Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom

http://orcid.org/0000-0003-3387-9149

⨯
Sofia Douzgou,

Roles Conceptualization, Formal analysis, Investigation, Resources, Writing – review & editing

Affiliations Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom, Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Manchester University NHS Foundation Trust, Manchester, United Kingdom
⨯
Susan J. Kimber,

Roles Conceptualization, Funding acquisition, Methodology, Resources, Supervision, Writing – review & editing

Affiliation Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom
⨯
William G. Newman,

Roles Conceptualization, Funding acquisition, Project administration, Resources, Supervision, Writing – original draft, Writing – review & editing

Affiliations Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom, Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Manchester University NHS Foundation Trust, Manchester, United Kingdom
⨯
Raymond T. O’Keefe

Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Project administration, Supervision, Writing – original draft, Writing – review & editing

* E-mail: rokeefe@manchester.ac.uk

Affiliation Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom

http://orcid.org/0000-0001-8764-1289

⨯

Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells

Katherine A. Wood,
Charlie F. Rowlands,
Huw B. Thomas,
Steven Woods,
Julieta O’Flaherty,
Sofia Douzgou,
Susan J. Kimber,
William G. Newman,
Raymond T. O’Keefe

Published: July 31, 2020
https://doi.org/10.1371/journal.pone.0233582
See the preprint

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Cell differentiation
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Introns
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Alternative splicing
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