{"id":6712,"date":"2025-09-26T10:53:43","date_gmt":"2025-09-26T10:53:43","guid":{"rendered":"https:\/\/ctm.ube.fr\/?p=6712"},"modified":"2025-09-26T10:56:30","modified_gmt":"2025-09-26T10:56:30","slug":"ptbp1-variants-displaying-altered-nucleocytoplasmic-distribution-are-responsible-for-a-neurodevelopmental-disorder-with-skeletal-dysplasia","status":"publish","type":"post","link":"https:\/\/ctm.ube.fr\/index.php\/2025\/09\/26\/ptbp1-variants-displaying-altered-nucleocytoplasmic-distribution-are-responsible-for-a-neurodevelopmental-disorder-with-skeletal-dysplasia\/","title":{"rendered":"PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia"},"content":{"rendered":"\t\t
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Equipe GAD<\/p>\n

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Aymeric Masson,1<\/sup> <\/a>Julien Paccaud,1<\/sup> <\/a>Martina Orefice,2<\/sup> <\/a>Estelle Colin,1<\/sup> <\/a>Outi M\u00e4kitie,3<\/sup> <\/a>Val\u00e9rie Cormier-Daire,4<\/sup> <\/a>Raissa Relator,5<\/sup> <\/a>Sourav Ghosh,5<\/sup> <\/a>Jean-Marc Strub,6<\/sup> <\/a>Christine Schaeffer-Reiss,6<\/sup> <\/a>Carlo Marcelis,7<\/sup> <\/a>David A. Koolen,7<\/sup> <\/a>Rolph Pfundt,8<\/sup> <\/a>Elke de Boer,7<\/sup> <\/a>Lisenka E.L.M. Vissers,7<\/sup> <\/a>Thatjana Gardeitchik,8<\/sup> <\/a>Lonneke A.M. Aarts,9<\/sup> <\/a>Tuula Rinne,7<\/sup> <\/a>Paulien A. Terhal,10<\/sup> <\/a>Nienke E. Verbeek,10<\/sup> <\/a>Linda C. Zuurbier,11<\/sup> <\/a>Astrid S. Plomp,12<\/sup> <\/a>Marja W. Wessels,13<\/sup> <\/a>Stella A. de Man,13<\/sup> <\/a>Arjan Bouman,13<\/sup> <\/a>Lynne M. Bird,14<\/sup> <\/a>Reem Saadeh-Haddad,15<\/sup> <\/a>Maria J. Guillen Sacoto,16<\/sup> <\/a>Richard Person,16<\/sup> <\/a>Catherine Gooch,17<\/sup> <\/a>Anna C.E. Hurst,18<\/sup> <\/a>Michelle L. Thompson,19<\/sup> <\/a>Susan M. Hiatt,19<\/sup> <\/a>Rebecca O. Littlejohn,20<\/sup> <\/a>Elizabeth R. Roeder,20<\/sup> <\/a>Mari Mori,21<\/sup> <\/a>Scott Hickey,21<\/sup> <\/a>Jesse M. Hunter,22<\/sup> <\/a>Kristy Lee,23<\/sup> <\/a>Khaled Osman,24<\/sup> <\/a>Rana Halloun,25<\/sup> <\/a>Ruxandra Bachmann-Gagescu,26<\/sup> <\/a>Anita Rauch,26<\/sup> <\/a>Dagmar Wieczorek,27<\/sup> <\/a>Konrad Platzer,28<\/sup><\/a>Johannes Luppe,28<\/sup> <\/a>Laurence Duplomb-Jego,1<\/sup> <\/a>Fatima El It,1<\/sup> <\/a>Yannis Duffourd,1<\/sup> <\/a>Fr\u00e9d\u00e9ric Tran Mau-Them,1<\/sup> <\/a>Celine Huber,4<\/sup> <\/a>Christopher T. Gordon,4<\/sup> <\/a>Fulya Taylan,29<\/sup> <\/a>Riikka E. M\u00e4kitie,30<\/sup> <\/a>Alice Costantini,29<\/sup><\/a>Helena Valta,3<\/sup> <\/a>Stephen Robertson,31<\/sup> <\/a>Gemma Poke,32<\/sup> <\/a>Michel Francoise,33<\/sup> <\/a>Andrea Ciolfi,34<\/sup> <\/a>Marco Tartaglia,34<\/sup> <\/a>Nina Ekhilevitch,35<\/sup> <\/a>Rinat Zaid,35<\/sup> <\/a>Michael A. Levy,36<\/sup> <\/a>Jennifer Kerkhof,36<\/sup> <\/a>Haley McConkey,36<\/sup><\/a>Julian Delanne,1<\/sup> <\/a>Martin Chevarin,1<\/sup> <\/a>Valentin Vautrot,1<\/sup> <\/a>Valentin Bourgeois,1<\/sup> <\/a>Sylvie Nguyen,1<\/sup> <\/a>Nathalie Marle,37<\/sup> <\/a>Patrick Callier,37<\/sup> <\/a>Hana Safraou,1<\/sup> <\/a>Angela Morgan,38<\/sup> <\/a>David J. Amor,38<\/sup> <\/a>Michael Hildebrand,38<\/sup><\/a>David Coman,39<\/sup> <\/a>Marion Aubert Mucca,40<\/sup> <\/a>Julien Thevenon,41<\/sup> <\/a>Fanny Laffargue,42<\/sup> <\/a>Fr\u00e9d\u00e9ric Bilan,41<\/sup><\/a>C\u00e9line Pebrel-Richard,41<\/sup> <\/a>Grace Yoon,43<\/sup> <\/a>Michelle M. Axford,44<\/sup> <\/a>Luis A. P\u00e9rez-Jurado,45<\/sup> <\/a>Marta Sevilla-Porras,45<\/sup> <\/a>Douglas Black,46<\/sup> <\/a>Christophe Philippe,1<\/sup> <\/a>Bekim Sadikovic,5<\/sup> <\/a>Christel Thauvin-Robinet,1<\/sup><\/a>Laurence Olivier-Faivre,1<\/sup> <\/a>Michela Ori,2<\/sup> <\/a>Quentin Thomas,1<\/sup> and <\/a>Antonio Vitobello1<\/sup><\/a><\/h4>\n

JCI<\/a> 2025<\/strong>, In Press<\/cite><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"

Equipe GAD Aymeric Masson,1 Julien Paccaud,1 Martina Orefice,2 Estelle Colin,1 Outi M\u00e4kitie,3 Val\u00e9rie Cormier-Daire,4 Raissa Relator,5 Sourav Ghosh,5 Jean-Marc Strub,6 Christine Schaeffer-Reiss,6 Carlo Marcelis,7 David A. Koolen,7 Rolph Pfundt,8 Elke de Boer,7 Lisenka E.L.M. Vissers,7 Thatjana Gardeitchik,8 Lonneke A.M. Aarts,9 Tuula Rinne,7 Paulien A. Terhal,10 Nienke E. Verbeek,10 Linda C. Zuurbier,11 Astrid S. Plomp,12 Marja … Lire la suite<\/a><\/p>\n","protected":false},"author":27,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3],"tags":[],"class_list":["post-6712","post","type-post","status-publish","format-standard","hentry","category-publication"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/ctm.ube.fr\/index.php\/wp-json\/wp\/v2\/posts\/6712","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ctm.ube.fr\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/ctm.ube.fr\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/ctm.ube.fr\/index.php\/wp-json\/wp\/v2\/users\/27"}],"replies":[{"embeddable":true,"href":"https:\/\/ctm.ube.fr\/index.php\/wp-json\/wp\/v2\/comments?post=6712"}],"version-history":[{"count":4,"href":"https:\/\/ctm.ube.fr\/index.php\/wp-json\/wp\/v2\/posts\/6712\/revisions"}],"predecessor-version":[{"id":6717,"href":"https:\/\/ctm.ube.fr\/index.php\/wp-json\/wp\/v2\/posts\/6712\/revisions\/6717"}],"wp:attachment":[{"href":"https:\/\/ctm.ube.fr\/index.php\/wp-json\/wp\/v2\/media?parent=6712"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ctm.ube.fr\/index.php\/wp-json\/wp\/v2\/categories?post=6712"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ctm.ube.fr\/index.php\/wp-json\/wp\/v2\/tags?post=6712"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}