S
S A Rundle
Researcher at University of Wales
Publications - 19
Citations - 4247
S A Rundle is an academic researcher from University of Wales. The author has contributed to research in topics: Myotonic dystrophy & Gene mapping. The author has an hindex of 12, co-authored 18 publications receiving 4082 citations.
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Journal ArticleDOI
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
J. David Brook,Mila E. McCurrach,H G Harley,Alan Buckler,Deanna M. Church,Hiroyuki Aburatani,Kent W. Hunter,Vincent P. Stanton,Jean Paul Thirion,Thomas J. Hudson,Robert L. Sohn,Boris V. Zemelman,Russell G. Snell,S A Rundle,Steve Crow,June Davies,Peggy Shelbourne,Jessica L. Buxton,Clare Jones,Vesa Juvonen,Keith J. Johnson,Peter S. Harper,D.J. Shaw,David E. Housman +23 more
TL;DR: Using positional cloning strategies, this work has identified a CTG triplet repeat that undergoes expansion in myotonic dystrophy patients and PCR analysis of the interval containing this repeat indicates that unaffected individuals have been 5 and 27 copies.
Journal ArticleDOI
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
H G Harley,J D Brook,S A Rundle,S Crow,W Reardon,A J Buckler,Peter S. Harper,D E Housman,D.J. Shaw +8 more
TL;DR: A human genomic clone is isolated that detects novel restriction fragments specific to individuals with myotonic dystrophy, strongly supporting earlier results which indicated that most cases are descended from one original mutation.
Journal Article
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.
H G Harley,S A Rundle,J.C. MacMillan,J Myring,J D Brook,S Crow,W Reardon,I. Fenton,D J Shaw,Peter S. Harper +9 more
TL;DR: Analysis of congenitally affected cases shows not only that they have, on average, the largest repeat sizes but also that their mothers have larger mean repeat sizes, supporting previous suggestions that a maternal effect is involved in the pathogenesis of this form of the disorder.
Journal ArticleDOI
Unstable DNA sequence in myotonic dystrophy
TL;DR: Progressive expansion of the affected gene provides a molecular explanation for an apparently earlier onset in successive generations (anticipation) in myotonic dystrophy and supports the role of an unstable repeat sequence as the basis of the defect.
Journal Article
Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.
H G Harley,J D Brook,Floyd Jl,S A Rundle,S Crow,K.V. Walsh,M C Thibault,Peter S. Harper,D J Shaw +8 more
TL;DR: The results suggest that at least 58% of DM patients in the British population, as well as those in a French-Canadian subpopulation, are descended from the same ancestral DM mutation.