A novel MEN1 gene mutation

Cancer Genetics and Cytogenetics

Volumn 180, Issue 2, 2008, Pages 165-167

  Manzoni, Marco F ^a   Franchi, Giulia M ^a   Sartorio, Samantha Menghi ^a   Di Rosa, Elena ^a   Cappelletti, Chiara ^a   Piani, Cecilia ^a   Cattaneo, Cristina ^a   Ferrari, Maurizio ^a   Bosi, Emanuele ^a   Carrera, Paola ^a  

^a VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CALCIUM; GENE PRODUCT; GENOMIC DNA; GLYCINE; GROWTH HORMONE; HYDROCORTISONE; METHIONINE; VITAMIN D;

ADULT; AMINO ACID SUBSTITUTION; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC IMAGING; FEMALE; GENE; GENE FUNCTION; GROWTH HORMONE BLOOD LEVEL; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HYDROCORTISONE BLOOD LEVEL; HYPOCALCEMIA; HYPOGLYCEMIA; IMAGE ANALYSIS; LETTER; MEN1 GENE; MISSENSE MUTATION; MULTIPLE ENDOCRINE NEOPLASIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PANCREAS TUMOR; PRIORITY JOURNAL; SYMPTOM; VITAMIN D DEFICIENCY;

ARGININE; CARCINOMA, PAPILLARY; FEMALE; GERM-LINE MUTATION; GLYCINE; HUMANS; MIDDLE AGED; MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; MUTATION, MISSENSE; PANCREATIC NEOPLASMS; PROTO-ONCOGENE PROTEINS;

EID: 38349076253     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cancergencyto.2007.10.017     Document Type: Letter

References (14)

1. Brandi M.L., Gagel R.F., Angeli A., Bilezikian J.P., Beck-Peccoz P., Bordi C., Conte-Devolx B., Falchetti A., Gheri R.G., Libroia A., Lips C.J.M., Lombardi G., Mannelli M., Pacini F., Ponder B.A.J., Raue F., Skogseid B., Tamburrano G., Thakker R.V., Thompson N.W., Tomassetti P., Tonelli F., Wells Jr. S.A., and Marx S.J. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86 (2001) 5658-5671
2. Kouvaraki M.A., Lee J.E., Shapiro S.E., Gagel R.F., Sherman S.I., Sellin R.V., Cote G.J., and Evans D.B. Genotype-phenotype analysis in multiple endocrine neoplasia type 1. Arch Surg 137 (2002) 641-647
3. Glascock M.J., and Carty S.E. Multiple endocrine neoplasia type 1: fresh perspective on clinical features and penetrance. Surg Oncol 11 (2002) 143-150
4. Guo S.S., and Sawicki M.P. Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1. Mol Endocrinol 15 (2001) 1653-1664
5. Milne T.A., Hughes C.M., Lloyd R., Yang Z., Rozenblatt-Rosen O., Dou Y., Schnepp R.W., Krankel C., LiVolsi V.A., Gibbs D., Hua X., Roeder R.G., Meyerson M., and Hess J.L. Menin and MLL cooperatively regulate expression of cyclin-dependent kinase inhibitors. Proc Natl Acad Sci U S A 102 (2005) 749-754
6. Gobl A.E., Berg M., Lopez-Egido J.R., Oberg K., Skogseid B., and Westin G. Menin represses JunD-activated transcription by a histone deacetylase-dependent mechanism. Biochim Biophys Acta 1447 (1999) 51-56
7. Falchetti A., Marini F., Tonelli F., and Brandi M.L. Lessons from genes mutated in multiple endocrine neoplasia (MEN) syndromes. Ann Endocrinol (Paris) 66 (2005) 195-205
8. Marx S.J. Molecular genetics of multiple endocrine neoplasia types 1 and 2. [Erratum in: Nat Rev Cancer 2005;5:663]. Nat Rev Cancer 5 (2005) 367-375
9. Park J.H., Kim I.J., Kang H.C., Lee S.H., Shin Y., Kim K.H., Lim S.B., Kang S.B., Lee K., Kim S.Y., Lee M.S., Lee M.K., Park J.H., Moon S.D., and Park J.G. Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders. Clin Genet 64 (2003) 48-53
10. Mogensen J., Bahl A., Kubo T., Elanko N., Taylor R., and McKenna W.J. Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy. J Med Genet 40 (2003) e59
11. Manickam P., Vogel A.M., Agarwal S.K., Oda T., Spiegel A.M., Marx S.J., Collins F.S., Weinstein B.M., and Chandrasekharappa S.C. Isolation, characterization, expression and functional analysis of the zebrafish ortholog of MEN1. Mamm Genome 11 (2000) 448-454
12. Hoff A.O., Cote G.J., and Gagel R.F. Multiple endocrine neoplasias. Annu Rev Physiol 62 (2000) 377-411
13. Thakker R.V. Multiple endocrine neoplasia: syndromes of the twentieth century. J Clin Endocrinol Metab 83 (1998) 2617-2620
14. Guru S.C., Agarwal S.K., Manickam P., Olufemi S.E., Crabtree J.S., Weisemann J.M., Kester M.B., Kim Y.S., Wang Y., Emmert-Buck M.R., Liotta L.A., Spiegel A.M., Boguski M.S., Roe B.A., Collins F.S., Marx S.J., Burns L., and Chandrasekharappa S.C. A transcript map for the 2.8-Mb region containing the multiple endocrine neoplasia type 1 locus. Genome Res 7 (1997) 725-735