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A. Nicolaou
Researcher at University of Cambridge
Publications - 1
Citations - 185
A. Nicolaou is an academic researcher from University of Cambridge. The author has contributed to research in topics: Mutation & Missense mutation. The author has an hindex of 1, co-authored 1 publications receiving 176 citations.
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Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)
J.T. Dendunnen,T. Kraayenbrink,T. Kraayenbrink,M.J. van Schooneveld,M.J. van Schooneveld,E. van de Vosse,P.T.V.M. de Jong,P.T.V.M. de Jong,P.T.V.M. de Jong,J.B. ten Brink,E.J.M. Schuurman,N. Tijmes,G.J.B. van Ommen,Arthur A.B. Bergen,Grazia Andolfi,Eugenio Montini,C. Oudet,Hanno J. Bolz,J. Kaplan,Ulrike Orth,Andreas Gal,André Hanauer,A.M. Bardelli,Carmen Ayuso,F.J. Diaz,Pierre Bitoun,V. Ventruto,Andrea Ballabio,Brunella Franco,K.T. Hiriyana,E.L. Bingham,Christina L. McHenry,Hemant Pawar,Caraline L. Coats,T. Darga,J.E. Richards,Paul A. Sieving,L Huopaniemi,Anne Rantala,Thomas Rosenberg,Niklas Dahl,Alan F. Wright,A. dela Chapelle,Tiina Alitalo,Steffen Lenzner,H.G. Brunner,Silke Feil,Beate Niesler,Ute Schulz,Alfred J. L. G. Pinckers,A. Blankenagel,K. Ruether,Ulrich Kellner,Gudrun A. Rappold,H.H. Ropers,Vera M. Kalscheuer,Wolfgang Berger,Dorothy Trump,Susannah M. Walpole,A. Nicolaou,S.A. Gaythor,D. Pimenides,N.D.L. George,U.T. Moore,John R.W. Yates +64 more
TL;DR: The mutation analysis revealed a high preponderance of mutations involving or creating cysteine residues, pointing to sites important for the tertiary folding and/or protein function, and highlights several amino acids which may be involved in XLRS1-specific protein-protein interactions.