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Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.
Callier, Patrick; Calvel, Pierre; Matevossian, Armine; Makrythanasis, Periklis; Bernard, Pascal; Kurosaka, Hiroshi; Vannier, Anne; Thauvin-Robinet, Christel; Borel, Christelle; Mazaud-Guittot, Séverine; Rolland, Antoine; Desdoits-Lethimonier, Christèle; Guipponi, Michel; Zimmermann, Céline; Stévant, Isabelle; Kuhne, Françoise; Conne, Béatrice; Santoni, Federico; Lambert, Sandy; Huet, Frederic; Mugneret, Francine; Jaruzelska, Jadwiga; Faivre, Laurence; Wilhelm, Dagmar; Jégou, Bernard; Trainor, Paul A; Resh, Marilyn D; Antonarakis, Stylianos E; Nef, Serge.
Affiliation
  • Callier P; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; FHU-TRANSLAD, Département de Génétique, Hôpital Le Bocage, CHU, Dijon, France; EA 4271 GAD Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.
  • Calvel P; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Matevossian A; Cell Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America; Gerstner Sloan-Kettering Graduate School of Biomedical Sciences, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America; Graduate Program in Pharmacology, Weill G
  • Makrythanasis P; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Bernard P; Department of Anatomy and Developmental Biology, Monash University, Clayton, Australia.
  • Kurosaka H; Stowers Institute for Medical Research, Kansas City, Missouri, United States of America.
  • Vannier A; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Thauvin-Robinet C; FHU-TRANSLAD, Département de Génétique, Hôpital Le Bocage, CHU, Dijon, France; EA 4271 GAD Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.
  • Borel C; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Mazaud-Guittot S; Institut National de la Santé et de la Recherche Médicale (Inserm) U1085-IRSET, Université de Rennes 1, Structure Fédérative Recherche Biosit, Campus de Beaulieu, Rennes, France.
  • Rolland A; Institut National de la Santé et de la Recherche Médicale (Inserm) U1085-IRSET, Université de Rennes 1, Structure Fédérative Recherche Biosit, Campus de Beaulieu, Rennes, France.
  • Desdoits-Lethimonier C; Institut National de la Santé et de la Recherche Médicale (Inserm) U1085-IRSET, Université de Rennes 1, Structure Fédérative Recherche Biosit, Campus de Beaulieu, Rennes, France.
  • Guipponi M; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Zimmermann C; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Stévant I; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Kuhne F; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Conne B; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Santoni F; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Lambert S; FHU-TRANSLAD, Département de Génétique, Hôpital Le Bocage, CHU, Dijon, France.
  • Huet F; FHU-TRANSLAD, Département de Génétique, Hôpital Le Bocage, CHU, Dijon, France; EA 4271 GAD Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.
  • Mugneret F; FHU-TRANSLAD, Département de Génétique, Hôpital Le Bocage, CHU, Dijon, France.
  • Jaruzelska J; Polish Academy of Sciences, Institute of Human Genetics, Poznan, Poland.
  • Faivre L; FHU-TRANSLAD, Département de Génétique, Hôpital Le Bocage, CHU, Dijon, France; EA 4271 GAD Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.
  • Wilhelm D; Department of Anatomy and Developmental Biology, Monash University, Clayton, Australia.
  • Jégou B; Institut National de la Santé et de la Recherche Médicale (Inserm) U1085-IRSET, Université de Rennes 1, Structure Fédérative Recherche Biosit, Campus de Beaulieu, Rennes, France; EHESP School of Public Health, Rennes, France.
  • Trainor PA; Stowers Institute for Medical Research, Kansas City, Missouri, United States of America; Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, Kansas, United States of America.
  • Resh MD; Cell Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America; Gerstner Sloan-Kettering Graduate School of Biomedical Sciences, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America; Graduate Program in Pharmacology, Weill G
  • Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; iGE3, Institute of Genetics and Genomics of Geneva, University of Geneva, Geneva, Switzerland.
  • Nef S; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; iGE3, Institute of Genetics and Genomics of Geneva, University of Geneva, Geneva, Switzerland.
PLoS Genet ; 10(5): e1004340, 2014 May.
Article in En | MEDLINE | ID: mdl-24784881
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Acyltransferases / Signal Transduction / Mutation, Missense / Hedgehog Proteins / Lipoylation / Disorder of Sex Development, 46,XY Limits: Animals / Female / Humans / Male Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2014 Document type: Article Affiliation country:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Acyltransferases / Signal Transduction / Mutation, Missense / Hedgehog Proteins / Lipoylation / Disorder of Sex Development, 46,XY Limits: Animals / Female / Humans / Male Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2014 Document type: Article Affiliation country: