{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T00:39:06Z","timestamp":1750984746315},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2022,8,12]],"date-time":"2022-08-12T00:00:00Z","timestamp":1660262400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,8,12]],"date-time":"2022-08-12T00:00:00Z","timestamp":1660262400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2023,5]]},"DOI":"10.1007\/s00467-022-05711-1","type":"journal-article","created":{"date-parts":[[2022,8,12]],"date-time":"2022-08-12T08:08:25Z","timestamp":1660291705000},"page":"1481-1483","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Nephrotic syndrome, skin involvement, and chronic lung disease: Answers"],"prefix":"10.1007","volume":"38","author":[{"given":"Bahriye","family":"Atmis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Derya","family":"Cevizli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cagla","family":"Cagli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emel","family":"Saribas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veysel","family":"Karakulak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dilek","family":"Ozcan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beyza Irem","family":"Gok","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kivilcim Eren","family":"Erdogan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gulfiliz","family":"Gonlusen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aysun K.","family":"Bayazit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,8,12]]},"reference":[{"key":"5711_CR1","doi-asserted-by":"publisher","first-page":"1529","DOI":"10.1007\/s00467-020-04519-1","volume":"35","author":"A Trautmann","year":"2020","unstructured":"Trautmann A, Vivarelli M, Samuel S, Gipson D, Sinha A, Schaefer F, Hui NK, Boyer O, Saleem MA, Feltran L, M\u00fcller-Deile J, Becker JU, Cano F, Xu H, Lim YN, Smoyer W, Anochie I, Nakanishi K, Hodson E, Haffner D, International Pediatric Nephrology Association (2020) IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome. Pediatr Nephrol 35:1529\u20131561. https:\/\/doi.org\/10.1007\/s00467-020-04519-1","journal-title":"Pediatr Nephrol"},{"key":"5711_CR2","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1007\/s00467-020-04476-9","volume":"36","author":"JM Lee","year":"2021","unstructured":"Lee JM, Kronbichler A, Shin JI, Oh J (2021) Current understandings in treating children with steroid-resistant nephrotic syndrome. Pediatr Nephrol 36:747\u2013761. https:\/\/doi.org\/10.1007\/s00467-020-04476-9","journal-title":"Pediatr Nephrol"},{"key":"5711_CR3","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1007\/s00467-017-3838-6","volume":"34","author":"R Preston","year":"2019","unstructured":"Preston R, Stuart HM, Lennon R (2019) Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how? Pediatr Nephrol 34:195\u2013210. https:\/\/doi.org\/10.1007\/s00467-017-3838-6","journal-title":"Pediatr Nephrol"},{"key":"5711_CR4","doi-asserted-by":"publisher","first-page":"3537","DOI":"10.1242\/dev.122.11.3537","volume":"122","author":"JA Kreidberg","year":"1996","unstructured":"Kreidberg JA, Donovan MJ, Goldstein SL, Rennke H, Shepherd K, Jones RC, Jaenisch R (1996) Alpha 3 beta 1 integrin has a crucial role in kidney and lung organogenesis. Development 122:3537\u20133547. https:\/\/doi.org\/10.1242\/dev.122.11.3537","journal-title":"Development"},{"key":"5711_CR5","doi-asserted-by":"publisher","first-page":"1508","DOI":"10.1056\/NEJMoa1110813","volume":"366","author":"C Has","year":"2012","unstructured":"Has C, Spart\u00e0 G, Kiritsi D, Weibel L, Moeller A, Vega-Warner V, Waters A, He Y, Anikster Y, Esser P, Straub BK, Hausser I, Bockenhauer D, Dekel B, Hildebrandt F, Bruckner-Tuderman L, Laube GF (2012) Integrin \u03b13 mutations with kidney, lung, and skin disease. N Engl J Med 366:1508\u20131514. https:\/\/doi.org\/10.1056\/NEJMoa1110813","journal-title":"N Engl J Med"},{"key":"5711_CR6","doi-asserted-by":"publisher","first-page":"4375","DOI":"10.1172\/JCI64100","volume":"122","author":"N Nicolaou","year":"2012","unstructured":"Nicolaou N, Margadant C, Kevelam SH, Lilien MR, Oosterveld MJ, Kreft M, van Eerde AM, Pfundt R, Terhal PA, van der Zwaag B, Nikkels PG, Sachs N, Goldschmeding R, Knoers NV, Renkema KY, Sonnenberg A (2012) Gain of glycosylation in integrin \u03b13 causes lung disease and nephrotic syndrome. J Clin Invest 122:4375\u20134387. https:\/\/doi.org\/10.1172\/JCI64100","journal-title":"J Clin Invest"},{"key":"5711_CR7","doi-asserted-by":"publisher","first-page":"3679","DOI":"10.1093\/hmg\/ddv111","volume":"24","author":"EG Yalcin","year":"2015","unstructured":"Yalcin EG, He Y, Orhan D, Pazzagli C, Emiralioglu N, Has C (2015) Crucial role of posttranslational modifications of integrin \u03b13 in interstitiallung disease and nephrotic syndrome. Hum Mol Genet 24:3679\u20133688. https:\/\/doi.org\/10.1093\/hmg\/ddv111","journal-title":"Hum Mol Genet"},{"key":"5711_CR8","doi-asserted-by":"publisher","first-page":"1056","DOI":"10.1016\/j.jid.2015.11.031","volume":"136","author":"Y He","year":"2016","unstructured":"He Y, Balasubramanian M, Humphreys N, Waruiru C, Brauner M, Kohlhase J, O\u2019Reilly R, Has C (2016) Intronic ITGA3 mutation impacts splicing regulation and causes interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. J Invest Dermatol 136:1056\u20131059. https:\/\/doi.org\/10.1016\/j.jid.2015.11.031","journal-title":"J Invest Dermatol"},{"key":"5711_CR9","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1186\/s13023-016-0514-z","volume":"11","author":"EA Colombo","year":"2016","unstructured":"Colombo EA, Spaccini L, Volpi L, Negri G, Cittaro D, Lazarevic D, Zirpoli S, Farolfi A, Gervasini C, Cubellis MV, Larizza L (2016) Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations. Orphanet J Rare Dis 11:136. https:\/\/doi.org\/10.1186\/s13023-016-0514-z","journal-title":"Orphanet J Rare Dis"},{"key":"5711_CR10","doi-asserted-by":"publisher","first-page":"268","DOI":"10.1007\/s13312-020-1767-0","volume":"57","author":"SU Tarur","year":"2020","unstructured":"Tarur SU, Srinivasan S, Seeralar A (2020) Delayed presentation of respiratory symptoms and prolonged survival in homozygous a3 integrin deficiency. Indian Pediatr 57:268\u2013269","journal-title":"Indian Pediatr"},{"key":"5711_CR11","doi-asserted-by":"publisher","first-page":"e13971","DOI":"10.1111\/petr.13971","volume":"25","author":"T Okamoto","year":"2021","unstructured":"Okamoto T, Nakamura A, Hayashi A, Yamaguchi T, Ogawa Y, Natsuga K, Yanagi K, Hotta K (2021) Successful kidney transplantation in a patient with neonatal-onset ILNEB. Pediatr Transplant 25:e13971. https:\/\/doi.org\/10.1111\/petr.13971","journal-title":"Pediatr Transplant"},{"key":"5711_CR12","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1001\/jamadermatol.2018.5368","volume":"155","author":"E Cohen-Barak","year":"2019","unstructured":"Cohen-Barak E, Danial-Farran N, Khayat M, Chervinsky E, Nevet JM, Ziv M, Shalev SA (2019) A nonjunctional, nonsyndromic case of junctional epidermolysis bullosa with renal and respiratory involvement. JAMA Dermatol 155:498\u2013500. https:\/\/doi.org\/10.1001\/jamadermatol.2018.5368","journal-title":"JAMA Dermatol"},{"key":"5711_CR13","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1111\/ddg.14381","volume":"19","author":"W Sondermann","year":"2021","unstructured":"Sondermann W, B\u00fcscher R, Forster H, Stehling F, Fischer J, He Y, Has C (2021) Skin fragility, renal malformation and interstitial lung disease due to compound heterozygous ITGA3 mutations. J Dtsch Dermatol Ges 19:899\u2013901. https:\/\/doi.org\/10.1111\/ddg.14381","journal-title":"J Dtsch Dermatol Ges"},{"key":"5711_CR14","doi-asserted-by":"publisher","first-page":"104335","DOI":"10.1016\/j.ejmg.2021.104335","volume":"64","author":"M Alstrup","year":"2021","unstructured":"Alstrup M, Marks SD, Ek J, Buchvald F, Lund TK, Perch M, Waters AM, Mogensen M, Jelsig AM (2021) First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood. Eur J Med Genet 64:104335. https:\/\/doi.org\/10.1016\/j.ejmg.2021.104335","journal-title":"Eur J Med Genet"},{"key":"5711_CR15","doi-asserted-by":"publisher","first-page":"2752","DOI":"10.1016\/j.jid.2021.03.029","volume":"141","author":"\u00c1 Kiny\u00f3","year":"2021","unstructured":"Kiny\u00f3 \u00c1, Kov\u00e1cs AL, Degrell P, K\u00e1lm\u00e1n E, Nagy N, K\u00e1rp\u00e1ti S, Gyulai R, Saeidian AH, Youssefian L, Vahidnezhad H, Uitto J (2021) Homozygous ITGA3 missense mutation in adults in a family with syndromic epidermolysis bullosa (ILNEB) without pulmonary involvement. J Invest Dermatol 141:2752\u20132756. https:\/\/doi.org\/10.1016\/j.jid.2021.03.029","journal-title":"J Invest Dermatol"},{"key":"5711_CR16","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1016\/j.cca.2021.10.027","volume":"523","author":"Y Liu","year":"2021","unstructured":"Liu Y, Yue Z, Wang H, Li M, Wu X, Lin H, Han W, Lan S, Sun L (2021) A novel ITGA3 homozygous splice mutation in an ILNEB syndrome child with slow progression. Clin Chim Acta 523:430\u2013436. https:\/\/doi.org\/10.1016\/j.cca.2021.10.027","journal-title":"Clin Chim Acta"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-022-05711-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-022-05711-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-022-05711-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,3,29]],"date-time":"2023-03-29T13:15:03Z","timestamp":1680095703000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-022-05711-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,12]]},"references-count":16,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["5711"],"URL":"https:\/\/doi.org\/10.1007\/s00467-022-05711-1","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,12]]},"assertion":[{"value":"26 July 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 July 2022","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 July 2022","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 August 2022","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}