Contributors
Adam Kurkiewicz:
ORCID: http://orcid.org/0000-0002-4806-9168
Role: ConceptualizationRole: Data curationRole: Formal analysisRole: MethodologyRole:
SoftwareRole: VisualizationRole: Writing – original draft
Anneli Cooper:
ORCID: http://orcid.org/0000-0002-1159-142X
Role: Investigation
Emily McIlwaine: Role: Investigation
Sarah A. Cumming: Role: Investigation
Berit Adam: Role: Investigation
Ralf Krahe: Role: ConceptualizationRole: Data curationRole: Project administrationRole: Writing
– review & editing
Jack Puymirat: Role: ConceptualizationRole: Resources
Benedikt Schoser: Role: ConceptualizationRole: Resources
Lubov Timchenko: Role: Conceptualization
Tetsuo Ashizawa: Role: ConceptualizationRole: Resources
Charles A. Thornton: Role: ConceptualizationRole: ResourcesRole: Writing – Review & Editing
Simon Rogers:
ORCID: http://orcid.org/0000-0003-3578-4477
Role: ConceptualizationRole: Project administrationRole: SupervisionRole: Writing
– review & editing
John D. McClure: Role: Project administrationRole: SupervisionRole: Validation
Darren G. Monckton: Role: ConceptualizationRole: Data curationRole: Project administrationRole: SupervisionRole:
Writing – Review & Editing
Ruben Artero: Role: Editor
Journal
Journal ID (nlm-ta): PLoS One
Journal ID (iso-abbrev): PLoS ONE
Journal ID (publisher-id): plos
Journal ID (pmc): plosone
Title:
PLoS ONE
Publisher:
Public Library of Science
(San Francisco, CA USA
)
ISSN
(Electronic):
1932-6203
Publication date Collection: 2020
Publication date
(Electronic):
14
April
2020
Volume: 15
Issue: 4
Electronic Location Identifier: e0231000
Affiliations
[1
]
Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow,
United Kingdom
[2
]
School of Computing Science, University of Glasgow, Glasgow, United Kingdom
[3
]
Institute of Molecular Cell and Systems Biology, College of Medical, Veterinary and
Life Sciences, University of Glasgow, Glasgow, United Kingdom
[4
]
Department of Genetics, University of Texas, MD Anderson Cancer Center, Houston, TX,
United States of America
[5
]
Laboratory of Human Genetics, CHUL Medical Research Centre, University of Laval, Quebec
City, QC, Canada
[6
]
Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University,
Munich, Germany
[7
]
Department of Pediatrics, Division of Neurology, Cincinnati Children’s Hosptial, University
of Cincinnati, College of Medicine, Cincinnati, Ohio, United States of America
[8
]
VA Medical Center, Houston, Texas, United States of America
[9
]
University of Rochester, Medical Center School of Medicine and Dentistry, Rochester,
New York, United States of America
University of Valencia, SPAIN
Author notes
Competing Interests: Adam Kurkiewicz Declares ownership of Illumina and PacBio shares. Anneli Cooper Has
served on a Scientific Advisory Board for AstraZeneca (Trypanosomiasis). Sarah Cumming
None declared Berit Adam None declared Ralf Krahe None declared. Jack Puymirat None
declared Benedikt Schoser Benedikt Schoser is member of the Neuromuscular advisory
board of Audentes Therapeutics, USA, and Scientific advisory of Nexien BioPharm, USA.
He received speaker honoraria from Sanofi Genzyme, Amicus Therapeutics, Lupin Pharmaceuticals,
and Kedrion. He received an unrestricted research grant from Sanofi Genzyme USA (2016-2019),
Greenovation FRG (2017-2020), and from the Marigold foundation (2014) Lubov Timchenko
None declared. Tetsuo Ashizawa 1. My wife has stocks and stock options of BIOPATH
Holdings, Inc. 2. One US and international patent approved. 3. Grants from NIH, the
Myotonic Dystrophy Foundation, the National Ataxia Foundation and Biogen. 4. I am
a member of the advisory board for the National Ataxia Foundation and that for the
Myotonic Dystrophy Foundation. Simon Rogers None declared John McClure None declared
Darren G Monckton Professor Monckton has been a scientific consultant and/or received
an honoraria or stock options from Biogen Idec, AMO Pharma, Charles River, Vertex
Pharmaceuticals, Triplet Therapeutics, LoQus23, BridgeBio, Small Molecule RNA and
Lion Therapeutics. Professor Monckton also had a research contract with AMO Pharma
and CHDI has received research grants from the European Union, European Huntington
Disease Network, National Institute of Health, Muscular Dystrophy UK and the Myotonic
Dystrophy Support Group. Professor Monckton is on the Scientific Advisory Board of
the Myotonic Dystrophy Foundation, is a scientific advisor to the Myotonic Dystrophy
Support Group and is a vice president of Muscular Dystrophy UK. Charles Thornton Dr.
Thornton has received sponsored research support from Ionis Pharmaceuticals, Biogen,
Genzyme, and Dyne Therapeutics, and research grants from the National Institutes of
Health, Food and Drug Administration, Muscular Dystrophy Association, and Myotonic
Dystrophy Foundation. Dr Thornton has served on the Scientific Advisory Board for
Dyne Therapeutics. This does not alter our adherence to PLOS ONE policies on sharing
data and materials.
[¤]
Current address: Institute of Biodiversity, Animal Health and Comparative Medicine,
University of Glasgow, Glasgow, United Kingdom
Author information
Article
Publisher ID:
PONE-D-19-24916
DOI: 10.1371/journal.pone.0231000
PMC ID: 7156058
PubMed ID: 32287265
SO-VID: 02dd6652-af6f-4483-80c5-77c3cf01c5f8
Copyright © © 2020 Kurkiewicz et al
License:
This is an open access article distributed under the terms of the
Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided
the original author and source are credited.
History
Date
received
: 24
September
2019
Date
accepted
: 13
March
2020
Page count
Figures: 4,
Tables: 4,
Pages: 19
Funding
Sample collection and initial data analysis were funded by the Marigold Foundation
in the form of international collaboration "Dystrophia Myotonica Biomarker Discovery
Initiative". The sponsors played active role in the study design and data collection,
by liaising with clinicians contributing muscle and blood samples, making arrangements
with the company, which carried out the microarray work, and carrying out the initial
data analysis. The sponsors played no role in preparation of the manuscript or a decision
to publish.
Categories
Subject:
Research Article
Subject:
Biology and Life Sciences
Subject:
Anatomy
Subject:
Body Fluids
Subject:
Blood
Subject:
Medicine and Health Sciences
Subject:
Anatomy
Subject:
Body Fluids
Subject:
Blood
Subject:
Biology and Life Sciences
Subject:
Physiology
Subject:
Body Fluids
Subject:
Blood
Subject:
Medicine and Health Sciences
Subject:
Physiology
Subject:
Body Fluids
Subject:
Blood
Subject:
Biology and Life Sciences
Subject:
Biochemistry
Subject:
Biomarkers
Subject:
Medicine and Health Sciences
Subject:
Clinical Genetics
Subject:
Genetic Diseases
Subject:
Myotonic Dystrophy
Subject:
Research and Analysis Methods
Subject:
Mathematical and Statistical Techniques
Subject:
Statistical Methods
Subject:
Forecasting
Subject:
Physical Sciences
Subject:
Mathematics
Subject:
Statistics
Subject:
Statistical Methods
Subject:
Forecasting
Subject:
Research and Analysis Methods
Subject:
Bioassays and Physiological Analysis
Subject:
Microarrays
Subject:
Research and Analysis Methods
Subject:
Bioassays and Physiological Analysis
Subject:
Muscle Analysis
Subject:
Research and Analysis Methods
Subject:
Mathematical and Statistical Techniques
Subject:
Statistical Methods
Subject:
Regression Analysis
Subject:
Linear Regression Analysis
Subject:
Physical Sciences
Subject:
Mathematics
Subject:
Statistics
Subject:
Statistical Methods
Subject:
Regression Analysis
Subject:
Linear Regression Analysis
Subject:
Biology and life sciences
Subject:
Genetics
Subject:
Gene expression
Subject:
RNA processing
Subject:
Alternative Splicing
Subject:
Biology and life sciences
Subject:
Biochemistry
Subject:
Nucleic acids
Subject:
RNA
Subject:
RNA processing
Subject:
Alternative Splicing
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