N
N. Tijmes
Researcher at Netherlands Institute for Neuroscience
Publications - 3
Citations - 996
N. Tijmes is an academic researcher from Netherlands Institute for Neuroscience. The author has contributed to research in topics: Missense mutation & Compound heterozygosity. The author has an hindex of 3, co-authored 3 publications receiving 942 citations.
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Journal ArticleDOI
Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR
F.P.M. Cremers,T.J.R. van de Pol,M.A. van Driel,A.I. den Hollander,F.J.J. van Haren,Nine V A M Knoers,N. Tijmes,Arthur A.B. Bergen,Klaus Rohrschneider,A. Blankenagel,Alfred J. L. G. Pinckers,August F. Deutman,Carel B. Hoyng +12 more
TL;DR: Results show that mutations in the ABCR gene not only result in STGD and AMD, but can also cause autosomal recessive RP and CRD.
Journal ArticleDOI
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
Alessandra Maugeri,M.A. van Driel,T.J.R. van de Pol,B.J. Klevering,F.J.J. van Haren,N. Tijmes,A. A. B. Bergen,Klaus Rohrschneider,A. Blankenagel,Alfred J. L. G. Pinckers,Niklas Dahl,Han G. Brunner,August F. Deutman,Carel B. Hoyng,Frans P.M. Cremers +14 more
TL;DR: It is hypothesized that the 2588G-->C alteration is a mild mutation that causes Stargardt disease only in combination with a severe ABCR mutation, and homozygosity for this and other mild ABCR mutations probably does not result in an STGD phenotype.
Journal ArticleDOI
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.