메뉴 건너뛰기




Volumn 9, Issue 9, 2002, Pages 901-906

Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis

Author keywords

Hamartomatous polyps; Intestinal polyps; Juvenile polyposis; Polyposis syndromes

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR; BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; DNA; SMAD4 PROTEIN; UNCLASSIFIED DRUG;

EID: 0036842005     PISSN: 10689265     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02557528     Document Type: Article
Times cited : (158)

References (38)
  • 1
    • 0021261655 scopus 로고
    • Familial juvenile polyposis coli: Increased risk of colorectal cancer
    • Jarvinen HJ, Franssila KO. Familial juvenile polyposis coli: Increased risk of colorectal cancer. Gut 1984;25:792-800.
    • (1984) Gut , vol.25 , pp. 792-800
    • Jarvinen, H.J.1    Franssila, K.O.2
  • 2
    • 0011118723 scopus 로고    scopus 로고
    • Juvenile polyposis syndrome
    • Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, eds. New York: McGraw-Hill
    • Howe JR. Juvenile polyposis syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th Ed. New York: McGraw-Hill, 2001:805-18.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease. 8th Ed. , pp. 805-818
    • Howe, J.R.1
  • 4
    • 0028148130 scopus 로고
    • Familial juvenile polyposis. Study of a kindred: Evolution of polyps and relationship to gastrointestinal carcinoma
    • Subramony C, Scott-Conner CEH, Skelton D, Hall TJ. Familial juvenile polyposis. Study of a kindred: Evolution of polyps and relationship to gastrointestinal carcinoma. Am J Clin Pathol 1994; 102:91-7.
    • (1994) Am J Clin Pathol , vol.102 , pp. 91-97
    • Subramony, C.1    Scott-Conner, C.E.H.2    Skelton, D.3    Hall, T.J.4
  • 8
    • 0015977499 scopus 로고
    • Juvenile gastrointestinal polyposis in a female infant: Report of a case and review of the literature of a recently recognized syndrome
    • Sachatello CR, Hahn IL, Carrington CB. Juvenile gastrointestinal polyposis in a female infant: Report of a case and review of the literature of a recently recognized syndrome. Surgery 1974;75:107-14.
    • (1974) Surgery , vol.75 , pp. 107-114
    • Sachatello, C.R.1    Hahn, I.L.2    Carrington, C.B.3
  • 9
    • 0031673225 scopus 로고    scopus 로고
    • The risk of gastrointestinal carcinoma in familial juvenile polyposis
    • Howe JR, Mitros FA, Summers RW. The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol 1998;5:751-6.
    • (1998) Ann Surg Oncol , vol.5 , pp. 751-756
    • Howe, J.R.1    Mitros, F.A.2    Summers, R.W.3
  • 11
    • 0032524069 scopus 로고    scopus 로고
    • Mutations in the SMAD4/DPC4 gene in juvenile polyposis
    • Howe JR, Roth S, Ringold JC, et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 1998;280:1086-8.
    • (1998) Science , vol.280 , pp. 1086-1088
    • Howe, J.R.1    Roth, S.2    Ringold, J.C.3
  • 13
    • 0032771825 scopus 로고    scopus 로고
    • Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients
    • Friedl W, Kruse R, Uhlhaas S, et al. Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients. Genes Chromosomes Cancer 1999;25:403-6.
    • (1999) Genes Chromosomes Cancer , vol.25 , pp. 403-406
    • Friedl, W.1    Kruse, R.2    Uhlhaas, S.3
  • 14
    • 0034063711 scopus 로고    scopus 로고
    • Analysis of genetic and phenotypic heterogeneity in juvenile polyposis
    • Woodford-Richens K, Bevan S, Churchman M, et al. Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. Gut 2000;46:656-60.
    • (2000) Gut , vol.46 , pp. 656-660
    • Woodford-Richens, K.1    Bevan, S.2    Churchman, M.3
  • 15
    • 0034059424 scopus 로고    scopus 로고
    • Germline mutations of the dpc4 gene in Korean juvenile polyposis patients
    • Kim IJ, Ku JL, Yoon KA, et al. Germline mutations of the dpc4 gene in Korean juvenile polyposis patients. Int J Cancer 2000;86:529-32.
    • (2000) Int J Cancer , vol.86 , pp. 529-532
    • Kim, I.J.1    Ku, J.L.2    Yoon, K.A.3
  • 16
    • 0011120169 scopus 로고    scopus 로고
    • The frequency of SMAD4 and PTEN mutations in juvenile polyposis
    • Sayed MG, Bair JL, Anderson ME, et al. The frequency of SMAD4 and PTEN mutations in juvenile polyposis. Surg Forum 2001;52:230-1.
    • (2001) Surg Forum , vol.52 , pp. 230-231
    • Sayed, M.G.1    Bair, J.L.2    Anderson, M.E.3
  • 17
    • 0031438047 scopus 로고    scopus 로고
    • TGF-β signaling from cell membrane to nucleus through SMAD proteins
    • Heldin C-H, Miyazono K, Ten Dijke P. TGF-β signaling from cell membrane to nucleus through SMAD proteins. Nature 1997;390:465-71.
    • (1997) Nature , vol.390 , pp. 465-471
    • Heldin, C.-H.1    Miyazono, K.2    Ten Dijke, P.3
  • 18
    • 0034972978 scopus 로고    scopus 로고
    • Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis
    • Howe JR, Bair JL, Sayed MG, et al. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet 2001;28:184-7.
    • (2001) Nat Genet , vol.28 , pp. 184-187
    • Howe, J.R.1    Bair, J.L.2    Sayed, M.G.3
  • 19
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from nucleated cells. Nucleic Acids Res 1988;16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 20
    • 0032816499 scopus 로고    scopus 로고
    • Direct genetic testing for Smad4 mutations in patients at risk for juvenile polyposis
    • Howe JR, Ringold JC, Hughes J, Summers RW. Direct genetic testing for Smad4 mutations in patients at risk for juvenile polyposis. Surgery 1999;126:162-70.
    • (1999) Surgery , vol.126 , pp. 162-170
    • Howe, J.R.1    Ringold, J.C.2    Hughes, J.3    Summers, R.W.4
  • 21
    • 0033572092 scopus 로고    scopus 로고
    • Adenocarcinoma of the small bowel: Review of the National Cancer Data Base, 1985-1995
    • The American College of Surgeons Commission on Cancer and the American Cancer Society
    • Howe JR, Karnell LH, Menck HR, Scott-Conner C. The American College of Surgeons Commission on Cancer and the American Cancer Society. Adenocarcinoma of the small bowel: Review of the National Cancer Data Base, 1985-1995. Cancer 1999;86:2693-706.
    • (1999) Cancer , vol.86 , pp. 2693-2706
    • Howe, J.R.1    Karnell, L.H.2    Menck, H.R.3    Scott-Conner, C.4
  • 22
    • 0022977531 scopus 로고
    • Hereditary gastrointestinal polyposis syndromes
    • Haggitt RC, Reid BJ. Hereditary gastrointestinal polyposis syndromes. Am J Surg Pathol 1986;10:871-87.
    • (1986) Am J Surg Pathol , vol.10 , pp. 871-887
    • Haggitt, R.C.1    Reid, B.J.2
  • 24
    • 0011148215 scopus 로고
    • Polyposis syndromes of the gastrointestinal tract
    • Sherlock P, Morson BC, Barbara L, Veronesi U, eds. New York: Raven Press
    • Bussey HJ. Polyposis syndromes of the gastrointestinal tract. In: Sherlock P, Morson BC, Barbara L, Veronesi U, eds. Precancerous Lesions of the Gastrointestinal Tract. New York: Raven Press, 1983:43-52.
    • (1983) Precancerous Lesions of the Gastrointestinal Tract , pp. 43-52
    • Bussey, H.J.1
  • 26
    • 0022574846 scopus 로고
    • Generalized juvenile polyposis coli
    • Grosfeld JL, West KW. Generalized juvenile polyposis coli. Arch Surg 1986;121:530-4.
    • (1986) Arch Surg , vol.121 , pp. 530-534
    • Grosfeld, J.L.1    West, K.W.2
  • 27
    • 0024853253 scopus 로고
    • Inherited disorders associated with colorectal cancer
    • Murday V, Slack J. Inherited disorders associated with colorectal cancer. Cancer Surv 1989;8:139-57.
    • (1989) Cancer Surv , vol.8 , pp. 139-157
    • Murday, V.1    Slack, J.2
  • 28
    • 0002066827 scopus 로고
    • Epidemiology
    • Cohen AM, Winawer SJ, eds. New York: McGraw-Hill
    • Schottenfeld D. Epidemiology. In: Cohen AM, Winawer SJ, eds. Cancer of the Colon, Rectum, and Anus. New York: McGraw-Hill, 1995:11-24.
    • (1995) Cancer of the Colon, Rectum, and Anus , pp. 11-24
    • Schottenfeld, D.1
  • 29
    • 0030604542 scopus 로고    scopus 로고
    • TGFβ signaling. Receptors, transducers, and Mad proteins
    • Massague J. TGFβ signaling. Receptors, transducers, and Mad proteins. Cell 1996;85:947-50.
    • (1996) Cell , vol.85 , pp. 947-950
    • Massague, J.1
  • 31
    • 0030837455 scopus 로고    scopus 로고
    • A structural basis for mutational inactivation of the tumor suppressor Smad4
    • Shi Y, Hata A, Lo RS, Massague J, Pavletich NP. A structural basis for mutational inactivation of the tumor suppressor Smad4. Nature 1997;388:87-93.
    • (1997) Nature , vol.388 , pp. 87-93
    • Shi, Y.1    Hata, A.2    Lo, R.S.3    Massague, J.4    Pavletich, N.P.5
  • 32
    • 0032528041 scopus 로고    scopus 로고
    • Smad proteins exist as monomers in vivo and undergo homo- and hetero-oligomerization upon activation by serine/threonine kinase receptors
    • Kawabata M, Inoue H, Hanyu A, Imamura T, Miyazono K. Smad proteins exist as monomers in vivo and undergo homo- and hetero-oligomerization upon activation by serine/threonine kinase receptors. EMBO J 1998;17:4056-65.
    • (1998) EMBO J , vol.17 , pp. 4056-4065
    • Kawabata, M.1    Inoue, H.2    Hanyu, A.3    Imamura, T.4    Miyazono, K.5
  • 33
    • 0030690337 scopus 로고    scopus 로고
    • Dual role of the Smad4/DPC4 tumor suppressor in TGF-β-inducible transcriptional complexes
    • Liu F, Pouponnot C, Massague J. Dual role of the Smad4/DPC4 tumor suppressor in TGF-β-inducible transcriptional complexes. Genes Dev 1997;11:3157-67.
    • (1997) Genes Dev , vol.11 , pp. 3157-3167
    • Liu, F.1    Pouponnot, C.2    Massague, J.3
  • 35
    • 15444348295 scopus 로고    scopus 로고
    • The tumor suppressor gene Smad4/Dpc4 is required for gastrulation and later for anterior development of the mouse embryo
    • Sirard C, de la Pompa JL, Elia A, et al. The tumor suppressor gene Smad4/Dpc4 is required for gastrulation and later for anterior development of the mouse embryo. Genes Dev 1998;12:107-19.
    • (1998) Genes Dev , vol.12 , pp. 107-119
    • Sirard, C.1    De la Pompa, J.L.2    Elia, A.3
  • 36
    • 0032584068 scopus 로고    scopus 로고
    • The tumor suppressor SMAD4/DPC4 is essential for epiblast proliferation and mesoderm induction in mice
    • Yang X, Li C, Xu X, Deng C. The tumor suppressor SMAD4/DPC4 is essential for epiblast proliferation and mesoderm induction in mice. Proc Natl Acad Sci U S A 1998;95:3667-72.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 3667-3672
    • Yang, X.1    Li, C.2    Xu, X.3    Deng, C.4
  • 37
    • 0032489508 scopus 로고    scopus 로고
    • Intestinal tumorigenesis in compound mutant mice of both DPC4 (Smad4) and APC genes
    • Takaku K, Oshima M, Miyoshi H, Matsui M, Seldin MF, Taketo MM. Intestinal tumorigenesis in compound mutant mice of both DPC4 (Smad4) and APC genes. Cell 1998;92:645-56.
    • (1998) Cell , vol.92 , pp. 645-656
    • Takaku, K.1    Oshima, M.2    Miyoshi, H.3    Matsui, M.4    Seldin, M.F.5    Taketo, M.M.6
  • 38
    • 6244256053 scopus 로고
    • Bmpr encodes a type I bone morphogenetic protein receptor that is essential for gastrulation during mouse embryogenesis
    • Mishina Y, Suzuki A, Ueno N, Behringer RR. Bmpr encodes a type I bone morphogenetic protein receptor that is essential for gastrulation during mouse embryogenesis. Genes Dev 1995;9:3027-37.
    • (1995) Genes Dev , vol.9 , pp. 3027-3037
    • Mishina, Y.1    Suzuki, A.2    Ueno, N.3    Behringer, R.R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.