메뉴 건너뛰기




Volumn 67, Issue 3, 2007, Pages 377-384

Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

EID: 34548009103     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2007.02895.x     Document Type: Article
Times cited : (35)

References (39)
  • 1
    • 0023449599 scopus 로고
    • Familial multiple endocrine neoplasia type 1: A new look at pathophysiology
    • Brandi, M.L., Marx, S.J., Aurbach, G. Fitzpatrick, L. (1987) Familial multiple endocrine neoplasia type 1: a new look at pathophysiology. Endocrine Reviews, 8, 391 405.
    • (1987) Endocrine Reviews , vol.8 , pp. 391-405
    • Brandi, M.L.1    Marx, S.J.2    Aurbach, G.3    Fitzpatrick, L.4
  • 2
    • 18344380647 scopus 로고    scopus 로고
    • Molecular genetics of multiple endocrine neoplasia types 1 and 2
    • Marx, S.J. (2005) Molecular genetics of multiple endocrine neoplasia types 1 and 2. Nature Reviews. Cancer, 5, 367 375.
    • (2005) Nature Reviews. Cancer , vol.5 , pp. 367-375
    • Marx, S.J.1
  • 5
    • 0023828816 scopus 로고
    • Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma
    • Larsson, C., Skogseid, B., Oberg, K., Nakamura, Y. Nordenskjold, M. (1988) Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature, 332, 85 87.
    • (1988) Nature , vol.332 , pp. 85-87
    • Larsson, C.1    Skogseid, B.2    Oberg, K.3    Nakamura, Y.4    Nordenskjold, M.5
  • 7
    • 13444304438 scopus 로고    scopus 로고
    • Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing
    • Ellard, S., Hattersley, A.T., Brewer, C.M. Vaidya, B. (2005) Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing. Clinical Endocrinology, 62, 169 175.
    • (2005) Clinical Endocrinology , vol.62 , pp. 169-175
    • Ellard, S.1    Hattersley, A.T.2    Brewer, C.M.3    Vaidya, B.4
  • 9
    • 0036301097 scopus 로고    scopus 로고
    • Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: Search for correlation between phenotype and the functional domains of the MEN1 protein
    • Wautot, V., Vercherat, C., Lespinasse, J., Chambe, B., Lenoir, G.M., Zhang, C.X., Porchet, N., Cordier, M., Beroud, C. Calender, A. (2002) Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. Human Mutation, 20, 35 47.
    • (2002) Human Mutation , vol.20 , pp. 35-47
    • Wautot, V.1    Vercherat, C.2    Lespinasse, J.3    Chambe, B.4    Lenoir, G.M.5    Zhang, C.X.6    Porchet, N.7    Cordier, M.8    Beroud, C.9    Calender, A.10
  • 13
    • 0034846922 scopus 로고    scopus 로고
    • Somatic mutations in MEN type 1 tumors, consistent with the Knudson 'two hit' hypothesis
    • Pannet, A.A. Thakker, R.V. (2001) Somatic mutations in MEN type 1 tumors, consistent with the Knudson 'two hit' hypothesis. Journal of Clinical Endocrinology and Metabolism, 86, 4371 4374.
    • (2001) Journal of Clinical Endocrinology and Metabolism , vol.86 , pp. 4371-4374
    • Pannet, A.A.1    Thakker, R.V.2
  • 15
    • 0031730065 scopus 로고    scopus 로고
    • The variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1
    • Carty, S.E., Helm, A.K., Amico, J.A., Clarke, M.R., Foley, T.P., Watson, C.G. Mulvihill, J.J. (2003) The variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1. Surgery, 124, 1106 1114.
    • (2003) Surgery , vol.124 , pp. 1106-1114
    • Carty, S.E.1    Helm, A.K.2    Amico, J.A.3    Clarke, M.R.4    Foley, T.P.5    Watson, C.G.6    Mulvihill, J.J.7
  • 19
    • 0346097996 scopus 로고    scopus 로고
    • Do patients with multiple endocrine neoplasia syndrome type 1 benefit from periodical screening?
    • Geerdink, E.A., Van der Luijt, R.B. Lips, C.J. (2003) Do patients with multiple endocrine neoplasia syndrome type 1 benefit from periodical screening? European Journal of Endocrinology, 149, 577 582.
    • (2003) European Journal of Endocrinology , vol.149 , pp. 577-582
    • Geerdink, E.A.1    Van Der Luijt, R.B.2    Lips, C.J.3
  • 21
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller, S.A. Dykes, D.D. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research, 16, 1215.
    • (1988) Nucleic Acids Research , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2
  • 26
    • 3242699561 scopus 로고    scopus 로고
    • Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway
    • Yaguchi, H., Ohukura, N., Yakahashi, M., Nagumura, Y., Kitabayashi, I. Isukada, T. (2004) Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway. Molecular and Cellular Biology, 24, 6569 6580.
    • (2004) Molecular and Cellular Biology , vol.24 , pp. 6569-6580
    • Yaguchi, H.1    Ohukura, N.2    Yakahashi, M.3    Nagumura, Y.4    Kitabayashi, I.5    Isukada, T.6
  • 27
    • 0031004279 scopus 로고    scopus 로고
    • DNA secondary structures and the evolution of hypervariable tandem arrays
    • Weitzmann, M.N., Woodford, K.J. Usdin, K. (1997) DNA secondary structures and the evolution of hypervariable tandem arrays. Journal of Biological Chemistry, 272, 9517 9523.
    • (1997) Journal of Biological Chemistry , vol.272 , pp. 9517-9523
    • Weitzmann, M.N.1    Woodford, K.J.2    Usdin, K.3
  • 33
    • 15044364414 scopus 로고    scopus 로고
    • Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1
    • Jap, T.S., Chiu, C.Y., Won, J.G., Wu, Y.C. Chen, H.S. (2005) Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1. Clinical Endocrinology, 62, 336 342.
    • (2005) Clinical Endocrinology , vol.62 , pp. 336-342
    • Jap, T.S.1    Chiu, C.Y.2    Won, J.G.3    Wu, Y.C.4    Chen, H.S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.