{"id":3743,"date":"2022-02-01T18:20:13","date_gmt":"2022-02-01T17:20:13","guid":{"rendered":"https:\/\/staging.wp-ibdm.nicolasg.fr\/haploinsufficiency-of-the-mouse-tshz3-gene-leads-to-kidney-defects-2\/"},"modified":"2022-07-11T19:59:42","modified_gmt":"2022-07-11T17:59:42","slug":"haploinsufficiency-of-the-mouse-tshz3-gene-leads-to-kidney-defects-2","status":"publish","type":"post","link":"https:\/\/staging.wp-ibdm.nicolasg.fr\/fr\/haploinsufficiency-of-the-mouse-tshz3-gene-leads-to-kidney-defects-2\/","title":{"rendered":"Haploinsufficiency of the mouse Tshz3 gene leads to kidney defects"},"content":{"rendered":"<p><img fetchpriority=\"high\" decoding=\"async\" class=\"alignright\" alt=\"Fasano_et_al2021\" src=\"https:\/\/staging.wp-ibdm.nicolasg.fr\/wp-content\/uploads\/2022\/02\/Fasano_et_al2021.jpg\" width=\"400\" height=\"264\" \/>L\u2019\u00e9quipe de Laurent Fasano a pr\u00e9c\u00e9demment montr\u00e9 que la d\u00e9l\u00e9tion du g\u00e8ne TSHZ3 \u00e0 l&#8217;\u00e9tat h\u00e9t\u00e9rozygote au niveau de la r\u00e9gion 19q12-13.11, pr\u00e9sente des caract\u00e9ristiques des troubles du spectre autistique ainsi que des anomalies du tractus r\u00e9nal. Dans cette \u00e9tude, ils ont caract\u00e9ris\u00e9 l&#8217;expression de TSHZ3 dans le rein de la souris adulte, en particulier dans les cellules endoth\u00e9liales glom\u00e9rulaires. Les auteurs ont montr\u00e9 que les reins de souris adultes h\u00e9t\u00e9rozygotes pour Tshz3 pr\u00e9sentent des d\u00e9fauts mol\u00e9culaires, morphologiques et fonctionnels, tels qu\u2019une expression anormale des g\u00e8nes, une densit\u00e9 glom\u00e9rulaire r\u00e9duite et une signature modifi\u00e9e des peptides urinaires qui s\u2019accompagnent de concentrations anormales pour certains \u00e9lectrolytes sanguins. Ces donn\u00e9es confirment que les souris h\u00e9t\u00e9rozygotes Tshz3 constituent un mod\u00e8le qui reproduit un grand nombre des probl\u00e8mes cliniques signal\u00e9s chez les patients avec une d\u00e9l\u00e9tion h\u00e9t\u00e9rozygote de TSHZ3.<\/p>\n<h3>En savoir plus :<\/h3>\n<ul>\n<li><span><a href=\"https:\/\/academic.oup.com\/hmg\/advance-article-abstract\/doi\/10.1093\/hmg\/ddab362\/6464694?redirectedFrom=fulltext\" target=\"_blank\" rel=\"noopener\">Sanchez-Martin I, Magalh\u00e3es P, Ranjzad P, Fatmi A, Richard F, Manh TPV, Saurin AJ, Feuillet G, Denis C, Woolf AS, Schanstra JP, Z\u00fcrbig P, Caubit X, Fasano L. Haploinsufficiency of the mouse Tshz3 gene leads to kidney defects. Hum Mol Genet. 2021 Dec 17:ddab362. doi: 10.1093\/hmg\/ddab362.<\/a><\/span><\/li>\n<\/ul>\n<h3>Contact<\/h3>\n<p><strong><a href=\"mailto:laurent.fasano@univ-amu.fr\">Laurent Fasano<\/a><\/strong><\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Les donn\u00e9es publi\u00e9es dans Hum Mol Genet. confirment que les souris h\u00e9t\u00e9rozygotes Tshz3 constituent un mod\u00e8le qui reproduit un grand nombre des probl\u00e8mes cliniques signal\u00e9s chez les patients avec une d\u00e9l\u00e9tion h\u00e9t\u00e9rozygote de TSHZ3.<\/p>\n","protected":false},"author":3,"featured_media":5536,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[79],"tags":[],"class_list":["post-3743","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news-fr","ibdm_team-team-2"],"acf":[],"_links":{"self":[{"href":"https:\/\/staging.wp-ibdm.nicolasg.fr\/fr\/wp-json\/wp\/v2\/posts\/3743","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/staging.wp-ibdm.nicolasg.fr\/fr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/staging.wp-ibdm.nicolasg.fr\/fr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/staging.wp-ibdm.nicolasg.fr\/fr\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/staging.wp-ibdm.nicolasg.fr\/fr\/wp-json\/wp\/v2\/comments?post=3743"}],"version-history":[{"count":1,"href":"https:\/\/staging.wp-ibdm.nicolasg.fr\/fr\/wp-json\/wp\/v2\/posts\/3743\/revisions"}],"predecessor-version":[{"id":11635,"href":"https:\/\/staging.wp-ibdm.nicolasg.fr\/fr\/wp-json\/wp\/v2\/posts\/3743\/revisions\/11635"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/staging.wp-ibdm.nicolasg.fr\/fr\/wp-json\/wp\/v2\/media\/5536"}],"wp:attachment":[{"href":"https:\/\/staging.wp-ibdm.nicolasg.fr\/fr\/wp-json\/wp\/v2\/media?parent=3743"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/staging.wp-ibdm.nicolasg.fr\/fr\/wp-json\/wp\/v2\/categories?post=3743"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/staging.wp-ibdm.nicolasg.fr\/fr\/wp-json\/wp\/v2\/tags?post=3743"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}