Deletion of exons 1-3 of the MEN1 gene in a large Italian family causes the loss of menin expression(438 views) Zatelli MC, Tagliati F, Di Ruvo M, Castermans E, Cavazzini L, Daly AF, Ambrosio MR, Beckers A, degli Uberti E
Fam Cancer (ISSN: 1389-9600), 2014 Jun; 13(2): 273-280.
Keywords: Gene Deletions, Genetic Analysis, Men1, Mlpa, Quantitative Pcr, Menin Protein, Tumor Protein, Unclassified Drug, Adult, Aged, Article, Case Report, Controlled Study, Copy Number Variation, Exon, Familial Cancer, Female, Gene Function, Gene Mutation, Human, Human Tissue, Middle Aged, Multiple Endocrine Neoplasia, Multiple Endocrine Neoplasia Type 1 Gene, Multiplex Ligation Dependent Probe Amplification, Phenotype, Priority Journal, Protein Depletion, Protein Expression, Real Time Polymerase Chain Reaction, Sequence Analysis, Tumor Gene, Young Adult,
Affiliations: *** IBB - CNR ***
Section of Endocrinology, Department of Medical Sciences, University of Ferrara, Via Savonarola 9, 44100 Ferrara, Italy
LTTA, University of Ferrara, Via Fossato di Mortara 70, 44100 Ferrara, Italy
Department of Clinical Genetics, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium
Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium
Section of Pathology, Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Ferrara, Italy
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Thakker, R. V., Multiple endocrine neoplasia type 1 (MEN1) (2010) Best Pract Res Clin Endocrinol Metab, 24, pp. 355-370. , doi: 10. 4103/2230-8210. 104058
Lemos, M. C., Thakker, R. V., Multiple endocrine neoplasia type 1 (MEN1): Analysis of 1336 mutations reported in the first decade following identification of the gene (2008) Hum Mutat, 29, pp. 22-32. , doi: 10. 1002/humu. 20605
Jager, A. C., Friis-Hansen, L., Hansen, T. V., Eskildsen, P. C., Solling, K., Knigge, U., Hansen, C. P., Nielsen, F. C., Characteristics of the Danish families with multiple endocrine neoplasia type 1 (2006) Mol Cell Endocrinol, 249, pp. 123-132. , doi: 10. 1016/j. mce. 2006. 02. 008
Zatelli, M. C., Trasforini, G., Leoni, S., Frigato, G., Buratto, M., Tagliati, F., Rossi, R., Degli Uberti, E. C., BRAF V600E mutation analysis increases diagnostic accuracy for papillary thyroid carcinoma in fine-needle aspiration biopsies (2009) Eur J Endocrinol, 161, pp. 467-473. , doi: 10. 1530/EJE-09-0353
Alvelos, M. I., Vinagre, J., Fonseca, E., Barbosa, E., Teixeira-Gomes, J., Sobrinho-Sim es, M., Soares, P., MEN1 intragenic deletions may represent the most prevalent somatic event in sporadic primary hyperparathyroidism (2012) Eur J Endocrinol, 168, pp. 119-128. , doi: 10. 1530/EJE-12-0327
Zatelli, M. C., Piccin, D., Bottoni, A., Ambrosio, M. R., Margutti, A., Padovani, R., Scanarini, M., Degli, U. E. C., Evidence for differential effects of selective somatostatin receptor subtype agonists on alpha-subunit and chromogranin A secretion and on cell viability in human nonfunctioning pituitary adenomas in vitro (2004) Journal of Clinical Endocrinology and Metabolism, 89 (10), pp. 5181-5188. , DOI 10. 1210/jc. 2003-031954
Cavaco, B. M., Domingues, R., Bacelar, M. C., Cardoso, H., Barros, L., Gomes, L., Ruas, M. M. A., Leite, V., Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions (2002) Clinical Endocrinology, 56 (4), pp. 465-473. , DOI 10. 1046/j. 1365-2265. 2002. 01505. x
Lairmore, T. C., Piersall, L. D., DeBenedetti, M. K., Dilley, W. G., Mutch, M. G., Whelan, A. J., Zehnbauer, B., Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1 (MEN 1) (2004) Ann Surg, 239, pp. 637-645. , doi: 10. 1097/01. sla. 0000124383. 98416. 8d
Deletion of exons 1-3 of the MEN1 gene in a large Italian family causes the loss of menin expression