{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:42:54Z","timestamp":1762004574274,"version":"3.37.3"},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,6,16]],"date-time":"2014-06-16T00:00:00Z","timestamp":1402876800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["2009-04120"],"award-info":[{"award-number":["2009-04120"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>Nephrotic syndrome is one of the most commonly diagnosed primary kidney diseases and its progressive forms can lead to chronic kidney disease and or end\u2010stage renal disease. Steroid\u2010resistant nephrotic syndrome is defined by resistance to standard steroid therapy and it remains one of the most intractable causes of kidney failure. Mutations in <jats:styled-content style=\"fixed-case\">NPHS2<\/jats:styled-content>, which encodes for podocin, an integral membrane protein of the glomerular epithelial cells (podocytes), represent a frequent cause of steroid\u2010resistant nephrotic syndrome worldwide. This study was aimed at screening for known <jats:styled-content style=\"fixed-case\">NPHS2<\/jats:styled-content> mutations in <jats:styled-content style=\"fixed-case\">I<\/jats:styled-content>ndians with nephrotic syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We screened a cohort of 484 subjects from the southern <jats:styled-content style=\"fixed-case\">I<\/jats:styled-content>ndian population for the presence of four missense mutations <jats:styled-content style=\"fixed-case\">G92C<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">P118L<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">R138Q<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">D160G<\/jats:styled-content> within the <jats:styled-content style=\"fixed-case\">NPHS2<\/jats:styled-content> gene using tetra primer <jats:styled-content style=\"fixed-case\">ARMS PCR<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Our results revealed that these mutations were seen only among the patients (14.02%) and were absent in the controls, suggesting their disease\u2010causing nature. Further categorization revealed that these mutations were together responsible for 18.5% of steroid\u2010resistant cases in our study group. Conversely, the studied mutations were not found in the controls as well as in the patients with steroid\u2010sensitive nephrotic syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first such report from <jats:styled-content style=\"fixed-case\">I<\/jats:styled-content>ndia. More studies are warranted to establish the frequency of <jats:styled-content style=\"fixed-case\">NPHS2<\/jats:styled-content> mutations in the <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>sian\u2013<jats:styled-content style=\"fixed-case\">I<\/jats:styled-content>ndian population and such analysis may help in developing mutation(s)\u2010specific therapeutic interventions in the future.<\/jats:p><\/jats:sec>","DOI":"10.1111\/nep.12241","type":"journal-article","created":{"date-parts":[[2014,3,27]],"date-time":"2014-03-27T12:39:07Z","timestamp":1395923947000},"page":"398-403","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["<i><scp>NPHS2<\/scp><\/i> mutation analysis and primary nephrotic syndrome in southern <scp>I<\/scp>ndians"],"prefix":"10.1111","volume":"19","author":[{"given":"Asra","family":"Jaffer","sequence":"first","affiliation":[{"name":"Department of Genetics Osmania University  Hyderabad Andhra Pradesh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wali","family":"Unnisa","sequence":"additional","affiliation":[{"name":"Department of Genetics Osmania University  Hyderabad Andhra Pradesh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"DSB","family":"Raju","sequence":"additional","affiliation":[{"name":"Department of Nephrology Nizam's Institute of Medical Sciences  Hyderabad Andhra Pradesh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Parveen","family":"Jahan","sequence":"additional","affiliation":[{"name":"Department of Genetics Osmania University  Hyderabad Andhra Pradesh India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,6,16]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-012-2239-0"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1600-0854.2003.00148.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000060578.79050.E0"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00055.2009"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00418-003-0511-x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/74166"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)64357-X"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200112849"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C100452200"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.17.e88"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-9-253"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-2164"},{"key":"e_1_2_7_14_1","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1681\/ASN.V132388","article-title":"Novel mutations in NPHS2 are detected in familial as well as sporadic steroid\u2010resistant nephrotic syndrome","volume":"13","author":"Karle S","year":"2002","journal-title":"J. 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