{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T15:19:56Z","timestamp":1758122396028},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T00:00:00Z","timestamp":1390435200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2014,4]]},"DOI":"10.1038\/jhg.2014.2","type":"journal-article","created":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T07:21:47Z","timestamp":1390461707000},"page":"206-210","source":"Crossref","is-referenced-by-count":10,"title":["p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?"],"prefix":"10.1038","volume":"59","author":[{"given":"Brigitte","family":"Martinez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion","family":"Heller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natacha","family":"Gaitch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"Hubert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre-Regis","family":"Burgel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Levy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuelle","family":"Girodon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Bienvenu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,1,23]]},"reference":[{"key":"BFjhg20142_CR1","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1016\/0888-7543(91)90504-8","volume":"10","author":"J Zielenski","year":"1991","unstructured":"Zielenski, J., Bozon, D., Kerem, B., Markiewicz, D., Durie, P., Rommens, J. M. et al. Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10, 229\u2013235 (1991).","journal-title":"Genomics"},{"key":"BFjhg20142_CR2","doi-asserted-by":"publisher","first-page":"738","DOI":"10.1002\/humu.20721","volume":"29","author":"GG Gen\u00e9","year":"2008","unstructured":"Gen\u00e9, G. G., Llobet, A., Larriba, S., de Semir, D., Mart\u00ednez, I., Escalada, A. et al. N-terminal CFTR missense variants severely affect the behaviour of the CFTR chloride channel. Hum. Mutat. 29, 738\u2013749 (2008).","journal-title":"Hum. Mutat."},{"key":"BFjhg20142_CR3","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1038\/sj.ejhg.5200524","volume":"8","author":"C Bombieri","year":"2000","unstructured":"Bombieri, C., Luisetti, M., Belpinati, F., Zuliani, E., Beretta, A., Baccheschi, J. et al. Increased frequency of CFTR gene mutations in sarcoidosis:a case\/control association study. Eur. J. Hum. Genet. 8, 717\u2013720 (2000).","journal-title":"Eur. J. Hum. Genet."},{"key":"BFjhg20142_CR4","doi-asserted-by":"publisher","first-page":"R50","DOI":"10.1007\/s004240000088","volume":"439","author":"M Ravnik-Glavac","year":"2000","unstructured":"Ravnik-Glavac, M., Dean, M., di Sant'Agnese, P., Chernick, M., Kozelj, M., Krizman, I. et al. Evidence that hereditary pancreatitis is genetically heterogeneous disorder. Pflugers Arch. 439, R50\u2013R52 (2000).","journal-title":"Pflugers Arch."},{"key":"BFjhg20142_CR5","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1007\/s004390100467","volume":"108","author":"M Tzetis","year":"2001","unstructured":"Tzetis, M., Efthymiadou, A., Strofalis, S., Psychou, P., Dimakou, A., Pouliou, E. et al. CFTR gene mutations\u2014including three novel nucleotide substitutions\u2014and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease. Hum. Genet. 108, 216\u2013221 (2001).","journal-title":"Hum. Genet."},{"key":"BFjhg20142_CR6","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/j.jcf.2004.05.049","volume":"3","author":"A Divac","year":"2004","unstructured":"Divac, A., Nikolic, A., Mitic-Milikic, M., Nagorni-Obradovic, L., Petrovic-Stanojevic, N., Dopudja-Pantic, V. et al. High frequency of theR75Q CFTR variation in patients with chronic obstructive pulmonary disease. J. Cyst. Fibros. 3, 189\u2013191 (2004).","journal-title":"J. Cyst. Fibros."},{"key":"BFjhg20142_CR7","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1002\/humu.20232","volume":"26","author":"JA Cohn","year":"2005","unstructured":"Cohn, J. A., Neoptolemos, J. P., Feng, J., Yan, J., Jiang, Z., Greenhalf, W. et al. Increased risk of idiopathic chronic pancreatitis incystic fibrosis carriers. Hum. Mutat. 26, 303\u2013307 (2005).","journal-title":"Hum. Mutat."},{"key":"BFjhg20142_CR8","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1053\/j.gastro.2010.10.045","volume":"140","author":"A Schneider","year":"2011","unstructured":"Schneider, A., Larusch, J., Sun, X., Aloe, A., Lamb, J., Hawes, R. et al. Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis. Gastroenterology 140, 162\u2013171 (2011).","journal-title":"Gastroenterology"},{"key":"BFjhg20142_CR9","doi-asserted-by":"publisher","first-page":"873","DOI":"10.1002\/humu.22300","volume":"34","author":"A Aissat","year":"2013","unstructured":"Aissat, A., De Becdelievre, A., Golmard, L., Vasseur, C., Costa, C., Chaoui, A. et al. Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level. Hum. Mutat. 34, 873\u2013881 (2013).","journal-title":"Hum. Mutat."},{"key":"BFjhg20142_CR10","doi-asserted-by":"publisher","first-page":"582","DOI":"10.1136\/gutjnl-2011-300645","volume":"62","author":"J Rosendahl","year":"2013","unstructured":"Rosendahl, J., Landt, O., Bernadova, J., Kovacs, P., Teich, N., B\u00f6deker, H. et al. CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated? Gut 62, 582\u2013592 (2013).","journal-title":"Gut"},{"key":"BFjhg20142_CR11","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1002\/humu.10041","volume":"19","author":"JL Bobadilla","year":"2002","unstructured":"Bobadilla, J. L., Macek, M. Jr, Fine, J. P. & Farrell, P. M. Cystic fibrosis: a worldwide analysis of CFTR mutations\u2014correlation with incidence data and application to screening. Hum. Mutat. 19, 575\u2013606 (2002).","journal-title":"Hum. Mutat."},{"key":"BFjhg20142_CR12","first-page":"996","volume":"42","author":"A Nikolic","year":"2006","unstructured":"Nikolic, A., Divac, A., Stankovic, M., Dinic, J., Tomic, B. & Ljujic, M. Analysis ofcommon CFTR polymorphisms 5T, M470V and R75Q in healthy Serbian population. Genetika 42, 996\u2013998 (2006).","journal-title":"Genetika"},{"key":"BFjhg20142_CR13","doi-asserted-by":"publisher","first-page":"372","DOI":"10.1007\/s00439-005-0059-z","volume":"118","author":"MD Bishop","year":"2005","unstructured":"Bishop, M. D., Freedman, S. D., Zielenski, J., Ahmed, N., Dupuis, A., Martin, S. et al. The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis. Hum. Genet. 118, 372\u2013381 (2005).","journal-title":"Hum. Genet."},{"key":"BFjhg20142_CR14","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1002\/humu.20232","volume":"26","author":"JA Cohn","year":"2005","unstructured":"Cohn, J. A., Neoptolemos, J. P., Feng, J., Yan, J., Jiang, Z., Greenhalf, W. et al. Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers. Hum. Mutat. 26, 303\u2013307 (2005).","journal-title":"Hum. Mutat."},{"key":"BFjhg20142_CR15","doi-asserted-by":"publisher","first-page":"1456","DOI":"10.1136\/gut.2005.064808","volume":"54","author":"FU Weiss","year":"2005","unstructured":"Weiss, F. U., Simon, P., Bogdanova, N., Mayerle, J., Dworniczak, B., Horst, J. et al. Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls. Gut 54, 1456\u20131460 (2005).","journal-title":"Gut"},{"key":"BFjhg20142_CR16","doi-asserted-by":"publisher","first-page":"2061","DOI":"10.1111\/j.1572-0241.2000.02228.x","volume":"95","author":"J Ockenga","year":"2000","unstructured":"Ockenga, J., Stuhrmann, M., Ballmann, M., Teich, N., Keim, V., D\u00f6rk, T. et al. Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis. Am. J. Gastroenterol. 95, 2061\u20132067 (2000).","journal-title":"Am. J. Gastroenterol."},{"key":"BFjhg20142_CR17","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1007\/s004390050518","volume":"100","author":"T D\u00f6rk","year":"1997","unstructured":"D\u00f6rk, T., Dworniczak, B., Aulehla-Scholz, C., Wieczorek, D., B\u00f6hm, I., Mayerova, A. et al. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum. Genet. 100, 365\u2013377 (1997).","journal-title":"Hum. Genet."},{"key":"BFjhg20142_CR18","doi-asserted-by":"publisher","first-page":"e73522","DOI":"10.1371\/journal.pone.0073522","volume":"8","author":"E Masson","year":"2013","unstructured":"Masson, E., Chen, J. M., Audrezet, M. P., Cooper, D. N. & F\u00e9rec, C. A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: Data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients. PLoS One 8, e73522 (2013).","journal-title":"PLoS One"},{"key":"BFjhg20142_CR19","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1111\/j.1399-0004.2007.00788.x","volume":"71","author":"M Tzetis","year":"2007","unstructured":"Tzetis, M., Kaliakatsos, M., Fotoulaki, M., Papatheodorou, A., Doudounakis, S., Tsezou, A. et al. Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis. Clin. Genet. 71, 451\u2013457 (2007).","journal-title":"Clin. Genet."},{"key":"BFjhg20142_CR20","doi-asserted-by":"publisher","first-page":"718","DOI":"10.1007\/s004390050897","volume":"103","author":"C Bombieri","year":"1998","unstructured":"Bombieri, C., Benetazzo, M., Saccomani, A., Belpinati, F., Gil\u00e8, L. S., Luisetti, M. et al. Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease. Hum. Genet. 103, 718\u2013722 (1998).","journal-title":"Hum. Genet."},{"key":"BFjhg20142_CR21","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/j.jcf.2004.05.049","volume":"3","author":"A Divac","year":"2004","unstructured":"Divac, A., Nikolic, A., Mitic-Milikic, M., Nagorni-Obradovic, L., Petrovic-Stanojevic, N., Dopudja-Pantic, V. et al. High frequency of the R75Q CFTR variation in patients with chronic obstructive pulmonary disease. J. Cyst. Fibros. 3, 189\u2013191 (2004).","journal-title":"J. Cyst. Fibros."},{"key":"BFjhg20142_CR22","doi-asserted-by":"publisher","first-page":"995","DOI":"10.1378\/chest.130.4.995","volume":"130","author":"TM Ziedalski","year":"2006","unstructured":"Ziedalski, T. M., Kao, P. N., Henig, N. R., Jacobs, S. S. & Ruoss, S. J. Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection. Chest 130, 995\u20131002 (2006).","journal-title":"Chest"},{"key":"BFjhg20142_CR23","first-page":"85","volume":"60","author":"A Divac","year":"2005","unstructured":"Divac, A., Nikolic, A., Mitic-Milikic, M., Nagorni-Obradovic, L., Petrovic-Stanojevic, N., Dopudja-Pantic, V. et al. CFTR mutations and polymorphisms in adults with disseminated bronchiectasis: a controversial issue. Thorax 60, 85 (2005).","journal-title":"Thorax"},{"key":"BFjhg20142_CR24","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1159\/000484750","volume":"5","author":"E Girodon","year":"1997","unstructured":"Girodon, E., Cazeneuve, C., Lebargy, F., Chinet, T., Costes, B., Ghanem, N. et al. CFTR gene mutations in adults with disseminated bronchiectasis. Eur. J. Hum. Genet. 5, 149\u2013155 (1997).","journal-title":"J. Hum. Genet."},{"key":"BFjhg20142_CR25","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1038\/sj.ejhg.5200524","volume":"8","author":"C Bombieri","year":"2000","unstructured":"Bombieri, C., Luisetti, M., Belpinati, F., Zuliani, E., Beretta, A., Baccheschi, J. et al. Increased frequency of CFTR gene mutations in sarcoidosis: a case\/control association study. Eur. J. Hum. Genet. 8, 717\u2013720 (2000).","journal-title":"Eur. J. Hum. Genet."},{"key":"BFjhg20142_CR26","doi-asserted-by":"publisher","first-page":"1310","DOI":"10.1053\/gast.2001.29673","volume":"121","author":"PG Noone","year":"2001","unstructured":"Noone, P. G., Zhou, Z., Silverman, L. M., Jowell, P. S., Knowles, M. R. & Cohn, J. A. Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations. Gastroenterology 121, 1310\u20131319 (2001).","journal-title":"Gastroenterology"},{"key":"BFjhg20142_CR27","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1007\/s00439-013-1363-7","volume":"133","author":"W Li","year":"2014","unstructured":"Li, W., Soave, D., Miller, M. R., Keenan, K., Lin, F., Gong, J. et al. Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities. Hum. Genet. 133, 151\u2013161 (2014).","journal-title":"Hum. Genet."}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg20142.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg20142","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg20142.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:32:44Z","timestamp":1684431164000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg20142"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,23]]},"references-count":27,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,4]]}},"alternative-id":["BFjhg20142"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2014.2","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,23]]}}}