J
Jacques Young
Researcher at Université Paris-Saclay
Publications - 271
Citations - 15028
Jacques Young is an academic researcher from Université Paris-Saclay. The author has contributed to research in topics: Kallmann syndrome & Hypogonadotropic hypogonadism. The author has an hindex of 66, co-authored 247 publications receiving 13075 citations. Previous affiliations of Jacques Young include Paris Diderot University & Institut Gustave Roussy.
Papers
More filters
Journal ArticleDOI
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
Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment
Ulrich Boehm,Pierre Bouloux,Mehul T. Dattani,Nicolas de Roux,Catherine Dodé,Leo Dunkel,Andrew A. Dwyer,Paolo Giacobini,J.-P. Hardelin,Anders Juul,Mohamad Maghnie,Nelly Pitteloud,Vincent Prevot,Taneli Raivio,Manuel Tena-Sempere,Richard Quinton,Jacques Young +16 more
TL;DR: A timely diagnosis and treatment to induce puberty can be beneficial for sexual, bone and metabolic health, and might help minimize some the psychological effects of CHH.
Journal ArticleDOI
A Family with Hypogonadotropic Hypogonadism and Mutations in the Gonadotropin-Releasing Hormone Receptor
N. De Roux,Jacques Young,Micheline Misrahi,R Genet,Philippe Chanson,G. Schaison,Edwin Milgrom +6 more
TL;DR: The gene for gonadotropin-releasing hormone (GnRH), especially since hypogonadal mice with the deletion of this gene have been identified, is a possible candidate, but no abnormality of the gene for GnRH has been found in several patients with idiopathic hypOGonadotropic hypog onogonadism.
Journal ArticleDOI
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
Neurosteroids: 3 alpha-hydroxy-5 alpha-pregnan-20-one and Its Precursors in the Brain, Plasma, and Steroidogenic Glands of Male and Female Rats
C. Corpéchot,Jacques Young,M Calvel,C Wehrey,J N Veltz,G Touyer,M Mouren,V V Prasad,C Banner,J Sjövall +9 more
TL;DR: Its concentrations in brain reach indeed the neuroactive range in cyclic and pregnant females, and are compatible with a physiological role of this neurosteroid.