Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.

Autor: Perdu, B, Lakeman, P, Mortier, G, Koenig, R, Lachmeijer, AMA, Van Hul, W

Publikováno v: Clinical Genetics; Oct2011, Vol. 80 Issue 4, p383-388, 6p, 2 Black and White Photographs, 1 Diagram, 2 Charts

PLEKHM1 is involved in osteoclastic vesicular transport and mutations in this gene cause osteopetrosis in incisors absent rat and human

Autor: VAN WESENBEECK, L, Odgren, P. R., Coxon, F. P., Frattini, A, Moens, P, Perdu, B, Mackay, C. A., VAN HUL, E, Timmermans, J. P., Vanhoenacker, F, Jacobs, R, Peruzzi, B, Teti, ANNA MARIA, Helfrich, M. H., Rogers, M. J., Villa, A, VAN HUL, W.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3983::c70199e05832709f3cdec030e8ee0b26
http://hdl.handle.net/11697/1410

Osteopetrosis

Autor: null Van Wesenbeeck, L., null Perdu, B., null Balemans, W., null Van Hul, W.

Publikováno v: Drugs of the Future. 33:0447

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a23f50ed54b2af8d17494c0d2332944e
https://doi.org/10.1358/dof.2008.033.05.1201106

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PLEKHM1 regulates Salmonella-containing vacuole biogenesis and infection.

Autor: McEwan DG; Institute of Biochemistry II, Goethe University School of Medicine, Theodor-Stern-Kai 7, D-60590 Frankfurt (Main), Germany., Richter B; Institute of Biochemistry II, Goethe University School of Medicine, Theodor-Stern-Kai 7, D-60590 Frankfurt (Main), Germany., Claudi B; Infection Biology, Biozentrum, University Basel, Klingelbergstr. 50/70, CH-4056 Basel, Switzerland., Wigge C; Buchmann Institute for Molecular Life Sciences, Max-von-Laue-Str. 15, Goethe University 60438 Frankfurt am Main, Germany., Wild P; Institute of Biochemistry II, Goethe University School of Medicine, Theodor-Stern-Kai 7, D-60590 Frankfurt (Main), Germany., Farhan H; Infection Biology, Biozentrum, University Basel, Klingelbergstr. 50/70, CH-4056 Basel, Switzerland; Biotechnology Institute Thurga, Department of Biology, University of Konstanz, 78457 Konstanz, Germany., McGourty K; Centre for Molecular Microbiology and Infection, Imperial College London, Armstrong Road, London SW7 2AZ, UK., Coxon FP; Musculoskeletal Research Programme, Division of Applied Medicine, Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen AB25 2ZD, UK., Franz-Wachtel M; Proteome Center Tübingen, Interfaculty Institute for Cell Biology, University of Tübingen, Auf der Morgenstelle 15, 72076 Tübingen, Germany., Perdu B; Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43B, 2650 Edegem, Belgium., Akutsu M; Infection Biology, Biozentrum, University Basel, Klingelbergstr. 50/70, CH-4056 Basel, Switzerland., Habermann A; Buchmann Institute for Molecular Life Sciences, Max-von-Laue-Str. 15, Goethe University 60438 Frankfurt am Main, Germany., Kirchof A; Institute of Biochemistry II, Goethe University School of Medicine, Theodor-Stern-Kai 7, D-60590 Frankfurt (Main), Germany., Helfrich MH; Musculoskeletal Research Programme, Division of Applied Medicine, Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen AB25 2ZD, UK., Odgren PR; Deptartment of Cell Biology, S7-242, University of Massachusetts Medical School, North Worcester, MA 01655, USA., Van Hul W; Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43B, 2650 Edegem, Belgium., Frangakis AS; Infection Biology, Biozentrum, University Basel, Klingelbergstr. 50/70, CH-4056 Basel, Switzerland., Rajalingam K; Molecular Signaling Unit, FZI, Institute for immunology, University Medical Center of the Johannes Gutenberg-University Mainz, Langenbeckstraße 1, Mainz 55131, Germany., Macek B; Proteome Center Tübingen, Interfaculty Institute for Cell Biology, University of Tübingen, Auf der Morgenstelle 15, 72076 Tübingen, Germany., Holden DW; Centre for Molecular Microbiology and Infection, Imperial College London, Armstrong Road, London SW7 2AZ, UK., Bumann D; Infection Biology, Biozentrum, University Basel, Klingelbergstr. 50/70, CH-4056 Basel, Switzerland. Electronic address: dirk.bumann@unibas.ch., Dikic I; Institute of Biochemistry II, Goethe University School of Medicine, Theodor-Stern-Kai 7, D-60590 Frankfurt (Main), Germany; Buchmann Institute for Molecular Life Sciences, Max-von-Laue-Str. 15, Goethe University 60438 Frankfurt am Main, Germany; University of Split, School of Medicine, Department of Immunology and Medical Genetics, Soltanska 2, 21 000 Split, Croatia. Electronic address: Ivan.Dikic@biochem2.de.

Publikováno v: Cell host & microbe [Cell Host Microbe] 2015 Jan 14; Vol. 17 (1), pp. 58-71. Date of Electronic Publication: 2014 Dec 11.