{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T13:28:20Z","timestamp":1789824500154,"version":"4.0.1"},"reference-count":22,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2009,9,22]],"date-time":"2009-09-22T00:00:00Z","timestamp":1253577600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"NIH Funding","award":["DK074996"],"award-info":[{"award-number":["DK074996"]}]},{"name":"NIH Funding","award":["DK080834"],"award-info":[{"award-number":["DK080834"]}]},{"name":"Cystic Fibrosis Foundation-USA Center Grant Program"},{"name":"Department of Physiology"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2009,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Cystic fibrosis is a lethal autosomal recessive disorder usually associated with lung disease, pancreatic insufficiency and high sweat chloride levels.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Clinical Case<\/jats:title>\n                    <jats:p>A patient admitted to Le Bonheur Children's Medical Center (LBCMC, Memphis, TN) showed symptoms of meconium ileus which required exploratory laparotomy, bowel resection and ileostomy. Genotyping showed \u0394F508\/I1027T on one chromosome and S1118F on the other. Sweat testing on three different occasions gave negative and intermediate results (22.7, 24.6\u2009mmol\/L; 55.1, 58.6\u2009mmol\/L and 55.1, 58\u2009mmol\/L) and pancreatic elastase testing showed normal levels.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To characterize S1118F\u2010CFTR mutation at a molecular level to help understand the associated CF\u2010phenotype.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Molecular characterization of S1118F\u2010CFTR mutant was studied in HEK\u2010293 cells at 37\u00b0C. Various biochemical methods such as Western blotting, real\u2010time PCR, Pulse chase labeling and iodide efflux assay were employed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>S1118F\u2010CFTR makes less than 10\u201315% of mature CFTR (band C) compared to WT\u2010CFTR. The mRNA levels of S1118F\u2010CFTR and WT\u2010CFTR are comparable. S1118F\u2010CFTR is functional but shows about 10\u201315% of WT\u2010CFTR activity. S1118F\u2010CFTR shows impaired maturation and CF\u2010correctors can increase the amount of mature and functional CFTR by three\u2010 to fourfold.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>S1118F\u2010CFTR shows impaired maturation and an individual with S1118F\u2010CFTR paired with \u0394F508\u2010CFTR exhibits atypical CF symptoms with intermediate sweat chloride level and meconium ileus despite documented pancreatic sufficiency. Pediatr Pulmonol. 2009; 44:1003\u20131009. \u00a92009 Wiley\u2010Liss, Inc.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ppul.21092","type":"journal-article","created":{"date-parts":[[2009,9,22]],"date-time":"2009-09-22T16:44:28Z","timestamp":1253637868000},"page":"1003-1009","source":"Crossref","is-referenced-by-count":6,"title":["Clinical and molecular characterization of S1118F\u2010CFTR"],"prefix":"10.1002","volume":"44","author":[{"given":"Himabindu","family":"Penmatsa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla A.","family":"Frederick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sunitha","family":"Nekkalapu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica G.","family":"Conoley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiqiang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunying","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Kappes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis C.","family":"Stokes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anjaparavanda P.","family":"Naren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,9,22]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.physiol.67.032003.154107"},{"key":"e_1_2_1_3_2","first-page":"5121","volume-title":"The metabolic and molecular basis of inherited disease","author":"Welsh MJ","year":"2001"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-1809.2003.00028.x"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tips.2007.05.004"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.31.21873"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.153.5.957"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1159\/000029497"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20050421"},{"key":"e_1_2_1_10_2","first-page":"229","article-title":"CFTR folding and maturation in cells","volume":"70","author":"Benharouga M","year":"2002","journal-title":"Methods Mol Med"},{"key":"e_1_2_1_11_2","unstructured":"Universal ProbeLibrary System. Roche Applied Science.http:\/\/www.roche\u2010applied\u2010sience.com\/sis\/rtpcr\/upl\/index.jsp."},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M400688200"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)82125-1"},{"key":"e_1_2_1_14_2","unstructured":"Sweat Testing: Sample Collection and Quantitative Analysis; Approved Guideline\u2010Second Edition. NCCLS document C34\u2010A2. Wayne (PA): NCCLS;2000."},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(00)76292-8"},{"key":"e_1_2_1_16_2","unstructured":"Mutation Details for S1118F\u2010CFTR. Cystic Fibrosis Mutation Database (http:\/\/www3.genet.sickkids.on.ca\/cftr\/MutationDetailPage.external?sp=897)."},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90148-8"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI12108"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI5731"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20070478"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1124\/mol.106.023986"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C700175200"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajplung.00169.2005"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fppul.21092","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fppul.21092","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.21092","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T07:46:14Z","timestamp":1697096774000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.21092"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,9,22]]},"references-count":22,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2009,10]]}},"alternative-id":["10.1002\/ppul.21092"],"URL":"https:\/\/doi.org\/10.1002\/ppul.21092","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"value":"8755-6863","type":"print"},{"value":"1099-0496","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,9,22]]}}}