{"id":195,"date":"2020-06-03T15:47:38","date_gmt":"2020-06-03T13:47:38","guid":{"rendered":"https:\/\/semmelweis.hu\/gyermekklinika1\/?page_id=195"},"modified":"2026-02-19T15:50:49","modified_gmt":"2026-02-19T14:50:49","slug":"mta-se-lendulet-nephrogenetikai-kutatocsoport","status":"publish","type":"page","link":"https:\/\/semmelweis.hu\/bokayklinika\/kutatas\/mta-se-lendulet-nephrogenetikai-kutatocsoport\/","title":{"rendered":"MTA-SE LEND\u00dcLET Nephrogenetikai Kutat\u00f3csoport"},"content":{"rendered":"<div class=\"keretes\">T\u00e9mavezet\u0151: Prof. Tory K\u00e1lm\u00e1n<\/div>\n<p>Az MTA-SE Lend\u00fclet Nephrogenetikai Kutat\u00f3csoport munk\u00e1ja r\u00e9szben interallelikus interakci\u00f3k, r\u00e9szben \u00faj g\u00e9nek azonos\u00edt\u00e1s\u00e1ra ir\u00e1nyul.<br \/>\nA kutat\u00f3csoport azonos\u00edtotta az els\u0151 olyan vari\u00e1nst a hum\u00e1n genetik\u00e1ban (NPHS2, R229Q), melynek patogenit\u00e1sa a m\u00e1sik all\u00e9lon l\u00e9v\u0151 mut\u00e1ci\u00f3 f\u00fcggv\u00e9nye. A podocin feh\u00e9rj\u00e9t k\u00f3dol\u00f3 NPHS2 g\u00e9n mut\u00e1ci\u00f3i az \u00f6r\u00f6kletes nephrosis szindr\u00f3ma leggyakoribb okai. Podocin-t\u00e1rsul\u00e1sok sejten bel\u00fcli lokaliz\u00e1ci\u00f3j\u00e1nak \u00e9s oligomeriz\u00e1ci\u00f3j\u00e1nak in vitro vizsg\u00e1lat\u00e1val r\u00e9szben az R229Q patogenit\u00e1s\u00e1t magyar\u00e1z\u00f3 k\u00f3ros oligomeriz\u00e1ci\u00f3 meg\u00e9rt\u00e9se, r\u00e9szben tov\u00e1bbi olyan vari\u00e1nsok azonos\u00edt\u00e1sa a c\u00e9ljuk, melyek patogenit\u00e1s\u00e1t a t\u00e1rsult mut\u00e1ci\u00f3 befoly\u00e1solja.<br \/>\nPopul\u00e1ci\u00f3-genetikai m\u00f3dszerrel emellett m\u00e1s gyakori autoszom\u00e1lis recessz\u00edv betegs\u00e9gekben keresnek inkompletten penetr\u00e1ns vari\u00e1nsokat, melyek inkomplett penetranci\u00e1ja interallelikus interakci\u00f3 f\u00fcggv\u00e9nye. Ehhez egy programozott algoritmust fejlesztettek ki.<br \/>\nMunk\u00e1juk tov\u00e1bbi c\u00e9lja monog\u00e9nes vesebetegs\u00e9gek\u00e9rt felel\u0151s g\u00e9nek azonos\u00edt\u00e1sa. Ismeretlen eredet\u0171 k\u00f3rk\u00e9pekben a francia IMAGINE Int\u00e9zettel kooper\u00e1ci\u00f3ban v\u00e9geznek teljes exom-szekven\u00e1l\u00e1st. K\u00f3roki mut\u00e1ci\u00f3k hat\u00e1s\u00e1t \u00e1llatmodellen (zebrahal, C. elegans), illetve sejtkult\u00far\u00e1n vizsg\u00e1lj\u00e1k tov\u00e1bb, ezen mut\u00e1ci\u00f3k fenot\u00edpusra, feh\u00e9rje-lokaliz\u00e1ci\u00f3ra \u00e9s -aktivit\u00e1sra gyakorolt hat\u00e1s\u00e1nak meghat\u00e1roz\u00e1s\u00e1val.<\/p>\n<p>&nbsp;<\/p>\n<hr \/>\n<p>&nbsp;<\/p>\n<div class=\"keretes\"><strong>MTA-SE Lend\u00fclet Nephrogenetic Laboratory<\/strong><br \/>\n<strong>Supervisor:<\/strong> Prof. K\u00e1lm\u00e1n Tory<\/div>\n<p>The MTA-SE Momentum Nephrogenetic Laboratory focuses on the identification of interallelic interactions in autosomal recessive disorders and that of novel genes in childhood renal disorders.<br \/>\nThe group formerly identified the first variant in human genetics, the pathogenicity of which depends on the trans-associated mutation (NPHS2, R229Q). Mutations of NPHS2, encoding podocin, are the most common causes of hereditary nephrotic syndrome. Through studying the intracellular localization of different podocin-associations in cultured podocytes and their oligomerization in vitro, they aim to understand the pathogenic oligomerization of R0229Q podocin and to identify other podocin variants which are influenced in their localization and pathogenicity by the trans-associated variants.<br \/>\nFurthermore, they aim to identify other incompletely penetrant variants in frequent autosomal recessive disorders by a population-genetic approach. For this purpose, they have developed a computerized algorithm.<br \/>\nA major interest of the group is the identification of novel genes in renal disorders with unknown origin. Patients with rare renal disorders are regularly consulted by them. In cooperation with the French IMAGINE Insitute, they perform whole exome sequencing in unclassified disorders. The effect of the potential causal mutations are studied in animal models (Danio rerio and C. elegans) and in cell culture experiments.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>T\u00e9mavezet\u0151: Prof. Tory K\u00e1lm\u00e1n Az MTA-SE Lend\u00fclet Nephrogenetikai Kutat\u00f3csoport munk\u00e1ja r\u00e9szben interallelikus interakci\u00f3k, r\u00e9szben \u00faj g\u00e9nek azonos\u00edt\u00e1s\u00e1ra ir\u00e1nyul. A kutat\u00f3csoport azonos\u00edtotta az els\u0151 olyan vari\u00e1nst a hum\u00e1n genetik\u00e1ban (NPHS2, R229Q), melynek patogenit\u00e1sa a m\u00e1sik all\u00e9lon l\u00e9v\u0151 mut\u00e1ci\u00f3 f\u00fcggv\u00e9nye. A podocin feh\u00e9rj\u00e9t k\u00f3dol\u00f3 NPHS2 g\u00e9n mut\u00e1ci\u00f3i az \u00f6r\u00f6kletes nephrosis szindr\u00f3ma leggyakoribb okai. Podocin-t\u00e1rsul\u00e1sok sejten bel\u00fcli lokaliz\u00e1ci\u00f3j\u00e1nak &hellip;<\/p>\n","protected":false},"author":101740,"featured_media":0,"parent":15,"menu_order":3,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"categories":[],"tags":[],"class_list":["post-195","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/pages\/195","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/users\/101740"}],"replies":[{"embeddable":true,"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/comments?post=195"}],"version-history":[{"count":6,"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/pages\/195\/revisions"}],"predecessor-version":[{"id":8005,"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/pages\/195\/revisions\/8005"}],"up":[{"embeddable":true,"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/pages\/15"}],"wp:attachment":[{"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/media?parent=195"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/categories?post=195"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/tags?post=195"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}