메뉴 건너뛰기




Volumn 141, Issue 5, 1999, Pages 475-480

Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN 1)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CANCER RISK; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GERM LINE; HETEROZYGOTE; HUMAN; JAPAN; MALE; MULTIPLE ENDOCRINE NEOPLASIA; PRIORITY JOURNAL;

EID: 0032724838     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1410475     Document Type: Article
Times cited : (46)

References (39)
  • 1
    • 0000319647 scopus 로고
    • Genetic aspects of adenomatosis of endocrine glands
    • Warmer P. Genetic aspects of adenomatosis of endocrine glands. American Journal of Medicine 1954 16 363-371.
    • (1954) American Journal of Medicine , vol.16 , pp. 363-371
    • Warmer, P.1
  • 4
    • 0030774547 scopus 로고    scopus 로고
    • A long-sought needle in the haystack: The multiple endocrine neoplasia type 1 gene
    • Kopp P. A long-sought needle in the haystack: the multiple endocrine neoplasia type 1 gene. European Journal of Endocrinology 1997 137 222-223.
    • (1997) European Journal of Endocrinology , vol.137 , pp. 222-223
    • Kopp, P.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. Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature 1988 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
    • 8544266010 scopus 로고    scopus 로고
    • Identification of the multiple endocrine neoplasia type 1 (MEN1) gene
    • The European Consortium on MEN1. Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. Human Molecular Genetics 1997 6 1177-1183.
    • (1997) Human Molecular Genetics , vol.6 , pp. 1177-1183
  • 9
    • 0033534510 scopus 로고    scopus 로고
    • Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription
    • Agarwal SK, Guru SC, Heppner C, Erdos MR, Collins RM, Park SY et al. Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. Cell 1999 96 143-152.
    • (1999) Cell , vol.96 , pp. 143-152
    • Agarwal, S.K.1    Guru, S.C.2    Heppner, C.3    Erdos, M.R.4    Collins, R.M.5    Park, S.Y.6
  • 10
    • 0031261809 scopus 로고    scopus 로고
    • Multiple endocrine neoplasia type 1 (MEN1): Recent advances
    • Pearce SH. Multiple endocrine neoplasia type 1 (MEN1): recent advances. Clinical Endocrinology 1997 47 513-514.
    • (1997) Clinical Endocrinology , vol.47 , pp. 513-514
    • Pearce, S.H.1
  • 14
    • 14444288521 scopus 로고    scopus 로고
    • Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1. Familial acromegaly and familial isolated hyperparathyroidism
    • Teh BT, Kytola S, Farnebo F, Bergman L, Wong FK, Weber G et al. Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1. familial acromegaly and familial isolated hyperparathyroidism. Journal of Clinical Endocrinology and Metabolism 1998 83 2621-2626.
    • (1998) Journal of Clinical Endocrinology and Metabolism , vol.83 , pp. 2621-2626
    • Teh, B.T.1    Kytola, S.2    Farnebo, F.3    Bergman, L.4    Wong, F.K.5    Weber, G.6
  • 15
    • 0032900482 scopus 로고    scopus 로고
    • Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases
    • Poncin J, Abs R, Velkeniers B, Bonduelle M, Abramowicz M, Legros JJ et al. Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases. Human Mutation 1999 13 54-60.
    • (1999) Human Mutation , vol.13 , pp. 54-60
    • Poncin, J.1    Abs, R.2    Velkeniers, B.3    Bonduelle, M.4    Abramowicz, M.5    Legros, J.J.6
  • 16
  • 17
    • 0030735539 scopus 로고    scopus 로고
    • A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect
    • Matsuda A & Kosugi S. A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect. Journal of Clinical Endocrinology and Metabolism 1997 82 3966-3971.
    • (1997) Journal of Clinical Endocrinology and Metabolism , vol.82 , pp. 3966-3971
    • Matsuda, A.1    Kosugi, S.2
  • 18
    • 0013662486 scopus 로고
    • Mechanisms of RNA splicing
    • Ed B Lewin. Oxford: Oxford University Press
    • Lewin B. Mechanisms of RNA splicing. In Genes IV, pp 5 78-609. Ed B Lewin. Oxford: Oxford University Press, 1990.
    • (1990) Genes IV , pp. 578-609
    • Lewin, B.1
  • 19
    • 0027295745 scopus 로고
    • A suggested nomenclature for designating mutations
    • Beaudet AL & Tsui LC. A suggested nomenclature for designating mutations. Human Mutation 1993 2 245-248.
    • (1993) Human Mutation , vol.2 , pp. 245-248
    • Beaudet, A.L.1    Tsui, L.C.2
  • 20
    • 0029666432 scopus 로고    scopus 로고
    • Heterogenous point mutations in the BRCA1 breast cancer susceptibility gene occur in high frequency at the site of homonucleotide tracts, short repeats and methylatable CpG/ CpNpG motifs
    • Rodenhiser D, Chakraborty P, Andrews J, Ainsworth P, Mancini D, Lopes E et al. Heterogenous point mutations in the BRCA1 breast cancer susceptibility gene occur in high frequency at the site of homonucleotide tracts, short repeats and methylatable CpG/ CpNpG motifs. Uncogene 1996 12 2623-2629.
    • (1996) Uncogene , vol.12 , pp. 2623-2629
    • Rodenhiser, D.1    Chakraborty, P.2    Andrews, J.3    Ainsworth, P.4    Mancini, D.5    Lopes, E.6
  • 21
    • 0031760161 scopus 로고    scopus 로고
    • Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN 1 in Japanese
    • Tanaka C, Yoshimoto K, Yamada S, Nishioka H, Ii S, Moritani M et al. Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN 1 in Japanese. Journal of Clinical Endocrinology and Metabolism 1998 83 960-965.
    • (1998) Journal of Clinical Endocrinology and Metabolism , vol.83 , pp. 960-965
    • Tanaka, C.1    Yoshimoto, K.2    Yamada, S.3    Nishioka, H.4    Ii, S.5    Moritani, M.6
  • 22
    • 0031766295 scopus 로고    scopus 로고
    • Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families
    • Sato M, Matsubara S, Miyauchi A, Ohye H, Imachi H, Murao K et al. Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families. Journal of Medical Genetics 1998 35 915-919.
    • (1998) Journal of Medical Genetics , vol.35 , pp. 915-919
    • Sato, M.1    Matsubara, S.2    Miyauchi, A.3    Ohye, H.4    Imachi, H.5    Murao, K.6
  • 23
    • 0029864134 scopus 로고    scopus 로고
    • Genetic testing for cancer susceptibility. Adopted on 20 February 1996
    • Statement of the American Society of Clinical Oncology. Genetic testing for cancer susceptibility. Adopted on 20 February 1996. Journal of Clinical Oncology 1996 14 1730-1740.
    • (1996) Journal of Clinical Oncology , vol.14 , pp. 1730-1740
  • 25
    • 0032138226 scopus 로고    scopus 로고
    • Multiple endocrine neoplasia - Syndromes of the twentieth century
    • Thakker RV. Multiple endocrine neoplasia - syndromes of the twentieth century. Journal of Clinical Endocrinology and Metabolism 1998 83 2617-2620.
    • (1998) Journal of Clinical Endocrinology and Metabolism , vol.83 , pp. 2617-2620
    • Thakker, R.V.1
  • 26
    • 7844248660 scopus 로고    scopus 로고
    • Characterization of the mouse Men1 gene and its expression during development
    • Stewart C, Parente F, Piehl F, Farnebo F, Quincey D, Silins G et al. Characterization of the mouse Men1 gene and its expression during development. Oncogene 1998 17 2485-2493.
    • (1998) Oncogene , vol.17 , pp. 2485-2493
    • Stewart, C.1    Parente, F.2    Piehl, F.3    Farnebo, F.4    Quincey, D.5    Silins, G.6
  • 27
    • 0020050314 scopus 로고
    • A catalogue of splice junction sequences
    • Mount SM. A catalogue of splice junction sequences. Nucleic Acids Research 1982 10 459-472.
    • (1982) Nucleic Acids Research , vol.10 , pp. 459-472
    • Mount, S.M.1
  • 28
    • 0013687909 scopus 로고    scopus 로고
    • Mutations in human diseases: Nature and consequences
    • Eds AEH Emery, DL Rimoin, JM Connor & RE Pyeritz. New York: Churchill Livingstone
    • Antonarakis SE. Mutations in human diseases: nature and consequences. In Emery and Rimoin's Principles and Practice of Medical Genetics. edn 3, pp 53-66. Eds AEH Emery, DL Rimoin, JM Connor & RE Pyeritz. New York: Churchill Livingstone, 1996.
    • (1996) Emery and Rimoin's Principles and Practice of Medical Genetics. Edn 3 , pp. 53-66
    • Antonarakis, S.E.1
  • 29
    • 0018801111 scopus 로고
    • BKV splice sequences based on analysis of preferred donor and acceptor sites
    • Seif I, Khoury G & Dhar R. BKV splice sequences based on analysis of preferred donor and acceptor sites. Nucleic Acids Research 1979 6 3387-3398.
    • (1979) Nucleic Acids Research , vol.6 , pp. 3387-3398
    • Seif, I.1    Khoury, G.2    Dhar, R.3
  • 34
    • 0345410147 scopus 로고    scopus 로고
    • Surgical treatment of primary hyperparathyroidism in two members of a family with multiple endocrine neoplasia type 1
    • Tsubaki H, Miyashita Y, Himura I, Tokuda N, Harada M. Kase T et al. Surgical treatment of primary hyperparathyroidism in two members of a family with multiple endocrine neoplasia type 1. Endocrine Surgery 1996 13 303-308.
    • (1996) Endocrine Surgery , vol.13 , pp. 303-308
    • Tsubaki, H.1    Miyashita, Y.2    Himura, I.3    Tokuda, N.4    Harada, M.5    Kase, T.6
  • 35
    • 0345410146 scopus 로고
    • Malignant pancreatic endocrine tumor presenting watery diarrhea, hypokalemia, achlorhydria syndrome with multiple endocrine neoplasia type 1 - Report of a case
    • Yakushiji H, Miyazaki K, Sasatomi E, Nakashiro H, Hisatsugu T, Toda S et al. Malignant pancreatic endocrine tumor presenting watery diarrhea, hypokalemia, achlorhydria syndrome with multiple endocrine neoplasia type 1 - report of a case. The Biliary Tract and Pancreas 1995 16 865-870.
    • (1995) The Biliary Tract and Pancreas , vol.16 , pp. 865-870
    • Yakushiji, H.1    Miyazaki, K.2    Sasatomi, E.3    Nakashiro, H.4    Hisatsugu, T.5    Toda, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.