K
Kay E. Davies
Researcher at University of Oxford
Publications - 580
Citations - 40236
Kay E. Davies is an academic researcher from University of Oxford. The author has contributed to research in topics: Duchenne muscular dystrophy & Dystrophin. The author has an hindex of 100, co-authored 573 publications receiving 38462 citations. Previous affiliations of Kay E. Davies include Case Western Reserve University & Technische Universität München.
Papers
More filters
Journal ArticleDOI
Function and genetics of dystrophin and dystrophin-related proteins in muscle
TL;DR: The role of the dystrophin complex and protein family in muscle is discussed and the physiological processes that are affected in Duchenne muscular dystrophy are described.
Journal ArticleDOI
A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets
Fiona Francis,Steffen Hennig,Bernhard Korn,Richard Reinhardt,P. de Jong,A.-M. Poustka,Hans Lehrach,Peter S. N. Rowe,J. Goulding,Tina C. Summerfield,Roger Mountford,Andrew P. Read,Ewa Popowska,Ewa Pronicka,Kay E. Davies,J. L. H. O'Riordan,Michael J. Econs,Teresa Nesbitt,Marc K. Drezner,C. Oudet,Solange Pannetier,André Hanauer,Tim M. Strom,Alfons Meindl,Bettina Lorenz,B. Cagnoli,Klaus Mohnike,Jan Murken,Thomas Meitinger +28 more
TL;DR: Intragenic non–overlapping deletions from four different families and three mutations have been detected in HYP patients, which suggest that the PEX gene is involved in the HYP disorder.
Journal ArticleDOI
Utrophin-Dystrophin-Deficient Mice as a Model for Duchenne Muscular Dystrophy
Anne E. Deconinck,Jill A. Rafael,Judith A. Skinner,Susan C. Brown,A Potter,Laurent Metzinger,Diana J Watt,J. George Dickson,Jonathon M. Tinsley,Kay E. Davies +9 more
TL;DR: It is suggested that utrophin and dystrophin have complementing roles in normal functional or developmental pathways in muscle and that these mice should provide novel insights into the pathogenesis of DMD and provide an improved model for rapid evaluation of gene therapy strategies.
Journal ArticleDOI
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16
Stephen T. Reeders,Martijn H. Breuning,Kay E. Davies,Robert D. Nicholls,Andrew P. Jarman,Douglas R. Higgs,Peter L. Pearson,D. J. Weatherall +7 more
TL;DR: It is shown that the APCKD locus is closely linked to the α-globin locus on the short arm of chromosome 16 (\[zcirc] = 25.85, \[thetacirc]=0.05) and this condition cannot be identified prenatally.
Journal ArticleDOI
A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse.
Patrick M. Nolan,Josephine Peters,Mark A. Strivens,Derek C. Rogers,Jim J. Hagan,Nigel K. Spurr,Ian C. Gray,Lucie Vizor,D Brooker,E Whitehill,R Washbourne,Tertius Hough,Simon Greenaway,M Hewitt,Xue Zhong Liu,Stefan L. McCormack,K Pickford,R Selley,Christine A. Wells,Zuzanna Tymowska-Lalanne,P. Roby,Peter H. Glenister,C Thornton,Caroline Thaung,J A Stevenson,Ruth M. Arkell,Philomena Mburu,Rachel E. Hardisty,Amy E. Kiernan,Alexandra Erven,Karen P. Steel,Stéphanie Voegeling,Jean-Louis Guénet,Carole D. Nickols,R Sadri,M Nasse,Adrian M. Isaacs,Kay E. Davies,M Browne,Elizabeth M. C. Fisher,Joanne E. Martin,Sohaila Rastan,Steve D.M. Brown,Jackie Hunter +43 more
TL;DR: A genome-wide, phenotype-driven screen for dominant mutations in the mouse is undertaken, which has led to a substantial increase in themouse mutant resource and represents a first step towards systematic studies of gene function in mammalian genetics.