Danielle E. Dye
Curtin University
50 Papers
368 Citations
Danielle E. Dye is an academic researcher from Curtin University. The author has contributed to research in topics: Myopathy & Congenital myopathy. The author has an hindex of 21, co-authored 50 publications. Previous affiliations of Danielle E. Dye include University of Western Australia & Telethon Institute for Child Health Research.
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Papers
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Nigel G. Laing,Danielle E. Dye,Carina Wallgren-Pettersson,Gabriele Richard,Nicole Monnier,S. Lillis,Thomas L. Winder,Hanns Lochmüller,Claudio Graziano,Stella Mitrani-Rosenbaum,Darren Twomey,John C. Sparrow,Alan H. Beggs,Kristen J. Nowak +13 more
TL;DR: The ACTA1 gene encodes skeletal muscle α‐actin, which is the predominant actin isoform in the sarcomeric thin filaments of adult skeletal muscle, and essential, along with myosin, for muscle contraction, which results in five overlapping congenital myopathies: nemalineMyopathy; intranuclear rod myopathy; actin filament aggregate myopathy%; congenital fiber type disproportion; and myopathy with core‐like areas.
The Role of Immunoglobulin Superfamily Cell Adhesion Molecules in Cancer Metastasis
TL;DR: A review of the steps in the metastatic pathway focusing on how the Ig-SF members, melanoma cell adhesion molecule (MCAM), L1CAM, neural CAM (NCAM), leukocyte CAM (ALCAM), intercellular CAM-1 (ICAM-1) and platelet endothelial CAM-2 (PECAM-2) could play a role.
Mutations in TPM3 are a common cause of congenital fiber type disproportion
Nigel F. Clarke,Hannah Kolski,Danielle E. Dye,Esther Lim,Robert L. Smith,Rakesh Patel,Michael C Fahey,Remi Bellance,Norma B. Romero,Edward S. Johnson,Annick Labarre-Vila,Nicole Monnier,Nigel G. Laing,Kathryn N. North +13 more
TL;DR: This work investigated whether mutation of TPM3 is a cause of CFTD, and found that the gene encoding α‐tropomyosinslow (TPM3) is a rare cause of nemaline myopathy.
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Interactions between skeletal muscle myoblasts and their extracellular matrix revealed by a serum free culture system
Vishal Chaturvedi,Danielle E. Dye,Beverley F. Kinnear,Toin H. van Kuppevelt,Miranda D. Grounds,Deirdre R. Coombe +5 more
TL;DR: This serum free culture system has revealed that the correct muscle ECM facilitates more rapid cell organisation and differentiation than single matrix glycoprotein substrates.
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A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies)
Luba Kalaydjieva,Anna Pérez-Lezaun,Dora Angelicheva,Suna Onengut,Danielle E. Dye,Nils U. Bosshard,Albena Jordanova,Alexei Savov,Peter Yanakiev,Ivo Kremensky,Brigitta Radeva,Joachim Hallmayer,Arseni Markov,Vanya Nedkova,Ivailo Tournev,Lidia Aneva,R Gitzelmann +16 more
TL;DR: The founder Romani mutation identified in this study is a single nucleotide substitution in GK1 resulting in the replacement of the conserved proline residue at amino acid position 28 with threonine (P28T).
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