E
Ellen van Beusekom
Researcher at Radboud University Nijmegen
Publications - 22
Citations - 2302
Ellen van Beusekom is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Missense mutation & Gene. The author has an hindex of 15, co-authored 19 publications receiving 2146 citations. Previous affiliations of Ellen van Beusekom include Radboud University Nijmegen Medical Centre.
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Journal ArticleDOI
Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
Daniel Beltrán-Valero de Bernabé,Sophie Currier,Alice Steinbrecher,Jacopo Celli,Ellen van Beusekom,Bert van der Zwaag,Hülya Kayserili,Luciano Merlini,David Chitayat,William B. Dobyns,Bru Cormand,Ana Elina Lehesjoki,Jesús Cruces,Thomas Voit,Christopher A. Walsh,Hans van Bokhoven,Han G. Brunner +16 more
TL;DR: Immunohistochemical analysis of muscle from patients with POMT1 mutations corroborated the O-mannosylation defect, as judged by the absence of glycosylation of alpha-dystroglycan.
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p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
Hans van Bokhoven,Ben C.J. Hamel,Michael J. Bamshad,Eugenio Sangiorgi,Fiorella Gurrieri,Pascal H.G. Duijf,Kaate R.J. Vanmolkot,Ellen van Beusekom,Sylvia E. C. van Beersum,Jacopo Celli,Gerard Merkx,Romano Tenconi,Jean Pierre Fryns,Alain Verloes,Ruth Newbury-Ecob,Annick Raas-Rotschild,Frank Majewski,Frits A. Beemer,Andreas R. Janecke,David Chitayat,Giangiorgio Crisponi,Hülya Kayserili,John R.W. Yates,Giovanni Neri,Han G. Brunner +24 more
TL;DR: In this paper, the p63 gene mutations were detected in almost all (40/43) individuals affected with EEC syndrome, in 35 individuals with nonsyndromic split hand-split foot malformation (SHFM), and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities.
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Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.
Lucas T. Jae,Matthijs Raaben,Moniek Riemersma,Ellen van Beusekom,Vincent A. Blomen,Arno Velds,Ron M. Kerkhoven,Jan E. Carette,Haluk Topaloglu,Peter Meinecke,Marja W. Wessels,Dirk Lefeber,Sean P. J. Whelan,Hans van Bokhoven,Thijn R. Brummelkamp,Thijn R. Brummelkamp +15 more
TL;DR: Comprehensive forward genetic screens can be used to define the genetic architecture of a complex disease and point out genes defective in dystroglycanopathies.
Journal ArticleDOI
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Tony Roscioli,Tony Roscioli,Erik-Jan Kamsteeg,Karen Buysse,Isabelle Maystadt,Jeroen van Reeuwijk,Christa van den Elzen,Ellen van Beusekom,Moniek Riemersma,Rolph Pfundt,Lisenka E.L.M. Vissers,Margit Schraders,Umut Altunoglu,Michael F. Buckley,Han G. Brunner,Bernard Grisart,Huiqing Zhou,Joris A. Veltman,Christian Gilissen,Grazia M.S. Mancini,Paul Delrée,Michèl A.A.P. Willemsen,Danijela Petković Ramadža,David Chitayat,Christopher P. Bennett,Eamonn Sheridan,Els A. J. Peeters,Gita M. B. Tan-Sindhunata,Christine E. M. de Die-Smulders,Koenraad Devriendt,Hülya Kayserili,Osama Abd El-Fattah El-Hashash,Derek L. Stemple,Dirk J. Lefeber,Yung-Yao Lin,Hans van Bokhoven +35 more
TL;DR: Results implicate ISPD in α-dystroglycan glycosylation in maintaining sarcolemma integrity in vertebrates and Knockdown of ispd in zebrafish recapitulates the human WWS phenotype with hydrocephalus, reduced eye size, muscle degeneration and hypoglycosylated α-dieselcan.
Journal ArticleDOI
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome
Hans van Bokhoven,Jacopo Celli,Jeroen van Reeuwijk,Tuula Rinne,Bob Glaudemans,Ellen van Beusekom,Paul N.M.A. Rieu,Ruth Newbury-Ecob,Chin Chiang,Han G. Brunner +9 more
TL;DR: It is shown that heterozygous mutations in the gene MYCN are present in Feingold syndrome, and all mutations are predicted to disrupt both the full-length protein and a new shortened MYCN isoform, suggesting that multiple aspects of early embryogenesis and postnatal brain growth in humans are tightly regulated by MYCN dosage.