M
Marian A. J. Weterman
Researcher at University of Amsterdam
Publications - 49
Citations - 3141
Marian A. J. Weterman is an academic researcher from University of Amsterdam. The author has contributed to research in topics: Gene & Chromosomal translocation. The author has an hindex of 31, co-authored 48 publications receiving 2941 citations. Previous affiliations of Marian A. J. Weterman include University of California, San Diego & Radboud University Nijmegen.
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Journal ArticleDOI
NMB, a novel gene, is expressed in low-metastatic human melanoma cell lines and xenografts
Marian A. J. Weterman,N. Ajubi,I.M.R. van Dinter,W.G.J. Degen,G.N.P. van Muijen,Dirk J. Ruiter,Henri P.J. Bloemers +6 more
TL;DR: In this article, the authors isolated several cDNA clones which showed differential expression between highly and lowly metastatic human melanoma cell lines, and one clone, designated nmb, showed preferential expression in the low-meta-static cell lines and was chosen for further characterization.
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CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.
Ashleigh E. Schaffer,Veerle Rc Eggens,Ahmet Okay Caglayan,Miriam S. Reuter,Eric Scott,Nicole G. Coufal,Jennifer L. Silhavy,Yuanchao Xue,Hülya Kayserili,Katsuhito Yasuno,Rasim Ozgur Rosti,Mostafa Abdellateef,Caner Çağlar,Paul R. Kasher,J. Leonie Cazemier,Marian A. J. Weterman,Vincent Cantagrel,Vincent Cantagrel,Na Cai,Christiane Zweier,Umut Altunoglu,N. Bilge Satkin,Fesih Aktar,Beyhan Tüysüz,Cengiz Yalcinkaya,Hüseyin Çaksen,Kaya Bilguvar,Xiang-Dong Fu,Christopher R. Trotta,Stacey Gabriel,André Reis,Murat Gunel,Frank Baas,Joseph G. Gleeson +33 more
TL;DR: The data link tRNA maturation to neuronal development and neurodegeneration through defective CLP1 function in humans through impaired pre-tRNA cleavage.
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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Birgit Budde,Yasmin Namavar,Peter G. Barth,Bwee Tien Poll-The,Gudrun Nürnberg,Christian Becker,Fred van Ruissen,Marian A. J. Weterman,Kees Fluiter,Erik T. Te Beek,Eleonora Aronica,Marjo S. van der Knaap,Wolfgang Höhne,Mohammad R. Toliat,Yanick J. Crow,Maja Steinlin,Thomas Voit,Filip Roelens,Wim Brussel,Knut Brockmann,Mårten Kyllerman,Eugen Boltshauser,Gerhard Hammersen,Michèl A.A.P. Willemsen,Lina Basel-Vanagaite,Ingeborg Krägeloh-Mann,Linda S. de Vries,László Sztriha,Francesco Muntoni,Colin D. Ferrie,Roberta Battini,Raoul C.M. Hennekam,Eugenio Grillo,Frits A. Beemer,Loes M E Stoets,Bernd Wollnik,Peter Nürnberg,Frank Baas +37 more
TL;DR: This work identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex that point to RNA processing as a new basic cellular impairment in neurological disorders.
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LAD-1/variant syndrome is caused by mutations in FERMT3
Taco W. Kuijpers,Edith van de Vijver,Marian A. J. Weterman,Martin de Boer,Anton T.J. Tool,Timo K. van den Berg,Markus Moser,Marja E. Jakobs,Karl Seeger,Ozden Sanal,Sule Unal,Mualla Cetin,Dirk Roos,Arthur J. Verhoeven,Frank Baas +14 more
TL;DR: Results indicate that the LAD1v syndrome is caused by truncating mutations in FERMT3, the gene responsible for kindlin-3 in hematopoietic cells, which was undetectable in the leukocytes and platelets of all patients tested.
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Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas
TL;DR: The (X;1)(p11;q21) translocation is a recurrent chromosomal abnormality in a subset of human papillary renal cell carcinomas, and is sometimes the sole cytogenetic abnormality present.