E
E. van de Vosse
Researcher at Leiden University Medical Center
Publications - 24
Citations - 702
E. van de Vosse is an academic researcher from Leiden University Medical Center. The author has contributed to research in topics: Coxiella burnetii & Gene mapping. The author has an hindex of 12, co-authored 24 publications receiving 647 citations. Previous affiliations of E. van de Vosse include Leiden University.
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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.
Journal ArticleDOI
PARK2/PACRG polymorphisms and susceptibility to typhoid and paratyphoid fever
Soegianto Ali,A M Vollaard,Suwandhi Widjaja,Charles Surjadi,E. van de Vosse,J. T. Van Dissel +5 more
TL;DR: It is suggested that this polymorphism in PARK2/PACRG plays a small but significant role in susceptibility to the intracellular pathogens S. typhi and S. paratyphi A, intrACEllular pathogens that upon infection of humans share with mycobacteria aspects of the hosts’ immune response.
Journal ArticleDOI
A Novel Human Serine-Threonine Phosphatase Related to the Drosophila Retinal Degeneration C (rdgC) Gene is Selectively Expressed in Sensory Neurons of Neural Crest Origin
Eugenio Montini,Elena I. Rugarli,E. van de Vosse,Grazia Andolfi,Margherita Mariani,Annibale Alessandro Puca,G. Giacomo Consalez,J.T. den Dunnen,Andrea Ballabio,Brunella Franco +9 more
TL;DR: While rdgC is expressed in the visual system of the fly, as well as in the mushroom bodies of the central brain, it is found that Ppef is highly expressed in sensory neurons of the dorsal root ganglia and neural crest-derived cranial ganglia, which suggests a role for serine-threonine phosphatases in mammalian development.
Journal ArticleDOI
Variation of CNV distribution in five different ethnic populations.
Stefan J. White,Lisenka E.L.M. Vissers,A. Geurts van Kessel,R. X de Menezes,Ersan Kalay,Anna-Elina Lehesjoki,Piero C. Giordano,E. van de Vosse,Martijn H. Breuning,Han G. Brunner,J.T. den Dunnen,Joris A. Veltman +11 more
TL;DR: The data suggest that insight into absolute DNA copy numbers for loci exhibiting CNV is required to determine their potential contribution to normal phenotypic variation and, in addition, disease susceptibility.
Journal ArticleDOI
Plasma granulysin levels and cellular interferon-gamma production correlate with curative host responses in tuberculosis, while plasma interferon-gamma levels correlate with tuberculosis disease activity in adults.
Edhyana Sahiratmadja,Bachti Alisjahbana,Simona Buccheri,Diana Di Liberto,T. de Boer,Iskandar Adnan,R. van Crevel,Michèl R. Klein,K. E. Van Meijgaarden,R.H.H. Nelwan,E. van de Vosse,Francesco Dieli,T. H. M. Ottenhoff +12 more
TL;DR: The observation that plasma granulysin levels and cellular IFN-gamma production correlate with curative host responses in pulmonary tuberculosis points to a potentially important role ofgranulysin, next to IFN -gamma, in host defence against M. tuberculosis.