{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T10:07:54Z","timestamp":1779962874553,"version":"3.53.1"},"reference-count":32,"publisher":"Charles University in Prague, Karolinum Press","issue":"3","license":[{"start":{"date-parts":[[2024,8,7]],"date-time":"2024-08-07T00:00:00Z","timestamp":1722988800000},"content-version":"vor","delay-in-days":4236,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2024,8,7]],"date-time":"2024-08-07T00:00:00Z","timestamp":1722988800000},"content-version":"tdm","delay-in-days":4236,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["IGA NR 94274\/2007"],"award-info":[{"award-number":["IGA NR 94274\/2007"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["PRVOUK-P25\/LF1\/2"],"award-info":[{"award-number":["PRVOUK-P25\/LF1\/2"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fol. Biol."],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>\n                    \u03b1-Actinin 4, encoded by\n                    <jats:italic>ACTN4<\/jats:italic>\n                    , is an F-actin crosslinking protein which belongs to the spectrin gene superfamily. It has a head-to-tail homodimer structure with three main domains. Mutations in\n                    <jats:italic>ACTN4<\/jats:italic>\n                    are associated with idiopathic nephrotic syndrome (NS). However, until today only a few mutations have been described in this gene. We used genomic DNA of 48 patients with focal segmental glomerulosclerosis (FSGS) and minimal change disease (MCD) to screen for ACTN4 mutations by high-resolution melting analysis (HRM). Suspect samples were sequenced and compared with healthy controls. To investigate the prevalence and possible effect of some substitutions found in FSGS\/MCD patients we also looked for these changes in patients with IgA nephropathy (IgAN) and membranous glomerulonephritis (MGN). We found 20 exonic and intronic substitutions in the group of 48 Czech patients. The substitution 2242A&gt;G (p.Asn748Asp) is a candidate mutation which was identified in one patient but not in any of the 200 healthy controls. Exon 19 seems to be a variable region due to the amount of revealed polymorphisms. In this region we also found three unreported substitutions in IgAN patients, c.2351C&gt;T (p.Ala784Val), c.2378G&gt;A (p.Cys793Tyr) and c.2393G&gt;A (p.Gly798Asp). These substitutions were not found in any tested healthy controls. To conclude, the\n                    <jats:italic>ACTN4<\/jats:italic>\n                    mutations are not a frequent cause of FSGS\/MCD in Czech adult patients. One new\n                    <jats:italic>ACTN4<\/jats:italic>\n                    mutation has been identified.\n                  <\/jats:p>","DOI":"10.14712\/fb2013059030110","type":"journal-article","created":{"date-parts":[[2024,8,7]],"date-time":"2024-08-07T12:25:49Z","timestamp":1723033549000},"page":"110-115","source":"Crossref","is-referenced-by-count":5,"title":["Mutational Analysis of ACTN4, Encoding \u03b1-Actinin 4, in Patients with Focal Segmental Glomerulosclerosis Using HRM Method"],"prefix":"10.14712","volume":"59","author":[{"given":"Mark\u00e9ta","family":"\u0160afa\u0159\u00edkov\u00e1","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Reiterov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"\u0160afr\u00e1nkov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"\u0160tekrov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Zidkov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Obeidov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Kohoutov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Tesa\u0159","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"5727","published-online":{"date-parts":[[2024,8,7]]},"reference":[{"key":"fb2013059030110_1","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1172\/JCI200523371","volume":"115","author":"Asanuma","year":"2005","journal-title":"J. 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