{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:54:16Z","timestamp":1787014456569,"version":"build-2736575974"},"reference-count":43,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2009,1,19]],"date-time":"2009-01-19T00:00:00Z","timestamp":1232323200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2009,2]]},"abstract":"Summary<\/jats:title>\n \n Objective\u2002<\/jats:bold>\n Germline mutations in the\n MEN1<\/jats:italic>\n gene predispose to the multiple endocrine neoplasia (MEN1) syndrome; however, approximately 10\u201320% of patients with MEN1 do not have a detectable\n MEN1<\/jats:italic>\n mutation. A rat strain with multiple endocrine tumours, a phenotypic overlap of both MEN1 and MEN2, has been reported to have a homozygous germline\n p27<\/jats:italic>\n (\n CDKN1B<\/jats:italic>\n ) mutation. Recently, two\n MEN1<\/jats:italic>\n mutation\u2010negative MEN1 syndrome patients have been identified to harbour a germline\n CDKN1B<\/jats:italic>\n mutation. The recently identified gene\n AIP<\/jats:italic>\n can also cause familial isolated pituitary adenoma, but no other specific tumour is associated with this syndrome. The objective of this study was to evaluate the possible contribution of\n CDKN1B<\/jats:italic>\n and\n AIP<\/jats:italic>\n germline mutations in a cohort of\n MEN1<\/jats:italic>\n mutation\u2010negative MEN1 syndrome patients.\n <\/jats:p>\n \n Patients\u2002<\/jats:bold>\n Eighteen sporadic and three familial cases of\n MEN1<\/jats:italic>\n mutation\u2010negative MEN1 syndrome were studied (18 pituitary adenomas, 12 hyperparathyroidism, 10 neuroendocrine tumours including 2 ACTH\u2010secreting lesions and one adrenal nodular hyperplasia). Clinical data and genomic DNA were analysed for mutations in the\n CDKN1B<\/jats:italic>\n and\n AIP<\/jats:italic>\n genes.\n <\/jats:p>\n \n Results\u2002<\/jats:bold>\n There were no mutations in the coding region or exon\/intron junction of the\n CDKN1B<\/jats:italic>\n and\n AIP<\/jats:italic>\n genes in any patient. Although we have a limited number of patients in our cohort, our data is consistent with others in the literature suggesting that\n CDKN1B<\/jats:italic>\n and\n AIP<\/jats:italic>\n mutations are extremely rare in MEN1 syndrome.\n <\/jats:p>\n \n Conclusion\u2002<\/jats:bold>\n Our results suggest that mutations in the\n CDKN1B<\/jats:italic>\n and\n AIP<\/jats:italic>\n genes are relatively uncommon in\n MEN1<\/jats:italic>\n mutation\u2010negative MEN1 syndrome patients.\n <\/jats:p>","DOI":"10.1111\/j.1365-2265.2008.03379.x","type":"journal-article","created":{"date-parts":[[2008,8,15]],"date-time":"2008-08-15T06:23:20Z","timestamp":1218781400000},"page":"259-264","source":"Crossref","is-referenced-by-count":60,"title":["Assessment of\n p27<\/i>\n (cyclin\u2010dependent kinase inhibitor 1B) and aryl hydrocarbon receptor\u2010interacting protein (\n AIP<\/i>\n ) genes in multiple endocrine neoplasia (MEN1) syndrome patients without any detectable\n MEN1<\/i>\n gene mutations"],"prefix":"10.1111","volume":"70","author":[{"given":"Susana","family":"Igreja","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harvinder S.","family":"Chahal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott A.","family":"Akker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Gueorguiev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Popovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetozar","family":"Damjanovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pia","family":"Burman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John A.","family":"Wass","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Quinton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashley B.","family":"Grossman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1rta","family":"Korbonits","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,1,19]]},"reference":[{"key":"e_1_2_6_2_2","first-page":"397","article-title":"Multiple endocrine neoplasia type 1: clinical and genetic features of the hereditary endocrine neoplasias","volume":"54","author":"Marx S.J.","year":"1999","journal-title":"Recent Progress in Hormone Research"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.86.12.8070"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-2843"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0603877103"},{"key":"e_1_2_6_6_2","first-page":"3048","article-title":"Recessive transmission of a multiple endocrine neoplasia syndrome in the rat","volume":"62","author":"Fritz A.","year":"2002","journal-title":"Cancer Research"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-2563"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-2611"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-2394"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1126100"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0700004104"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-2513"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2008.03266.x"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1677\/ERC-07-0025"},{"key":"e_1_2_6_15_2","doi-asserted-by":"crossref","unstructured":"Buchbinder S. 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