M
Marc Delpech
Researcher at University of Paris
Publications - 103
Citations - 7669
Marc Delpech is an academic researcher from University of Paris. The author has contributed to research in topics: Amyloidosis & Familial Mediterranean fever. The author has an hindex of 39, co-authored 102 publications receiving 7269 citations. Previous affiliations of Marc Delpech include French Institute of Health and Medical Research & Paris Descartes University.
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Journal ArticleDOI
A candidate gene for familial Mediterranean fever
Alain Bernot,Christian Clepet,Corinne Dasilva,Catherine Devaud,Jean-Louis Petit,Christophe Caloustian,Corinne Cruaud,Delphine Samson,Françoise Pulcini,Jean Weissenbach,Roland Heilig,Cécile Notanicola,Cécile Domingo,Michael Rozenbaum,Eldad Ben-Chetrit,Rezzan Topaloglu,Marie Dewalle,Christiane Dross,Philippe Hadjari,Madeleine Dupont,Jacques Demaille,Isabelle Touitou,Nizar Smaoui,Brigitte Nedelec,Jean-Philippe Mery,Habiba Chaabouni,Marc Delpech,Gilles Grateau +27 more
TL;DR: A minimal co-segregating region of 60 kb containing the FMF gene (MEFV) is defined and one of these transcripts encodes a new protein (marenostrin) related to the ret-finger protein and to butyrophilin.
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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Catherine Dodé,Jacqueline Levilliers,Jean-Michel Dupont,Anne De Paepe,Nathalie Le Dû,Nadia Soussi-Yanicostas,Roney S. Coimbra,Sedigheh Delmaghani,Sylvie Compain-Nouaille,Françoise Baverel,Christophe Pêcheux,Dominique Le Tessier,Corinne Cruaud,Marc Delpech,Frank Speleman,Stefan Vermeulen,Andrea Amalfitano,Yvan Bachelot,Philippe Bouchard,Sylvie Cabrol,Jean-Claude Carel,Henriette A. Delemarre-van de Waal,Barbara Goulet-Salmon,Marie-Laure Kottler,Odile Richard,Franco Sánchez-Franco,Robert Saura,Jacques Young,Christine Petit,Jean-Pierre Hardelin +29 more
TL;DR: It is established here that loss- of-function mutations in FGFR1 underlie KAL2 whereas a gain-of-function mutation inFGFR1 has been shown to cause a form of craniosynostosis and suggested that the KAL1 gene product, the extracellular matrix protein anosmin-1, is involved in FGF signaling.
Journal ArticleDOI
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome
J.P.H. Drenth,Laurence Cuisset,Gilles Grateau,Christian Vasseur,S.D. van der Velde-Visser,J.G.N. de Jong,Jacques S. Beckmann,J.W.M. van der Meer,Marc Delpech +8 more
TL;DR: The authors' data establish MVK as the gene responsible for HIDS, and characterized 3 missense mutations, a 92-bp loss stemming from a deletion or from exon skipping, and the absence of expression of one allele.
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Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
Catherine Dodé,Luis Augusto Teixeira,Jacqueline Levilliers,Corinne Fouveaut,Philippe Bouchard,Marie Laure Kottler,James Lespinasse,Anne Lienhardt-Roussie,Michèle Mathieu,Alexandre Moerman,Graeme Morgan,Arnaud Murat,Jean Edmont Toublanc,Slawomir Wolczynski,Marc Delpech,Christine Petit,Jacques Young,J.-P. Hardelin +17 more
TL;DR: Findings reveal that insufficient prokineticin-signaling through PROKR2 leads to abnormal development of the olfactory system and reproductive axis in man and shed new light on the complex genetic transmission of Kallmann syndrome.
Journal ArticleDOI
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study
Stylianos E. Antonarakis,J. P. Rossiter,M. Young,J. Horst,P. De Moerloose,S. S. Sommer,Rhett P. Ketterling,H. H. Kazazian,Claude Negrier,Christine Vinciguerra,Jane Gitschier,Michel Goossens,E. Girodon,N. Ghanem,F. Plassa,Jean-Maurice Lavergne,M. Vidaud,J. M. Costa,Y. Laurian,S. W. Lin,S. R. Lin,M. C. Shen,David Lillicrap,Sherryl A. M. Taylor,S. Windsor,Sophie Valleix,K. Nafa,Y. Sultan,Marc Delpech,Cindy L. Vnencak-Jones,John A. Phillips,Rolf Ljung,E. Koumbarelis,A. Gialeraki,T. Mandalaki,P. V. Jenkins,Peter William Collins,K. J. Pasi,Anne Goodeve,Ian R. Peake,F. E. Preston,Marianne Schwartz,Elma Scheibel,Jørgen Ingerslev,David Neil Cooper,David Stuart Millar,V. V. Kakkar,F. Giannelli,J.A. Naylor,E. F. Tizzano,M. Baiget,M. Domenech,Carmen Altisent,J. Tusell,M. Beneyto,J. I. Lorenzo,Christine Gaucher,Claudine Mazurier,Kathelijne Peerlinck,Gert Matthijs,Jj. Cassiman,Jozef Vermylen,P. G. Mori,M. Acquila,D. Caprino,Hiroshi Inaba +65 more
TL;DR: The presence of factor VII inversions is not a major predisposing factor for the development of factor VIII inhibitors; however, slightly more patients with severe hemophilia A and factor VIII inversions develop inhibitors than patients without inversions.