메뉴 건너뛰기




Volumn 10, Issue 3, 2014, Pages 570-577

Juvenile polyposis syndrome

Author keywords

BMPR1A gene; Juvenile polyposis; Juvenile polyposis syndrome; SMAD4 gene

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; SMAD4 PROTEIN; TRANSFORMING GROWTH FACTOR BETA;

EID: 84903575952     PISSN: 17341922     EISSN: 18969151     Source Type: Journal    
DOI: 10.5114/aoms.2014.43750     Document Type: Article
Times cited : (31)

References (41)
  • 1
    • 33646849300 scopus 로고    scopus 로고
    • Diagnosis and management of gastrointestinal polyps: Pediatric considerations
    • Attard TM, Young RJ. Diagnosis and management of gastrointestinal polyps: pediatric considerations. Gastroenterol Nurs 2006; 29: 16-22.
    • (2006) Gastroenterol Nurs , vol.29 , pp. 16-22
    • Attard, T.M.1    Young, R.J.2
  • 2
    • 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
  • 3
    • 33644792947 scopus 로고    scopus 로고
    • A review of juvenile polyposis syndrome
    • Chow E, Macrae F. A review of juvenile polyposis syndrome. J Gastroenterol Hepatol 2005; 20: 1634-40.
    • (2005) J Gastroenterol Hepatol , vol.20 , pp. 1634-1640
    • Chow, E.1    Macrae, F.2
  • 4
    • 66149094309 scopus 로고    scopus 로고
    • Pediatric juvenile polyposis syndromes: An update
    • Huang SC, Erdman SH. Pediatric juvenile polyposis syndromes: an update. Curr Gastroenterol Rep 2009; 11: 211-9.
    • (2009) Curr Gastroenterol Rep , vol.11 , pp. 211-219
    • Huang, S.C.1    Erdman, S.H.2
  • 6
    • 0030759885 scopus 로고    scopus 로고
    • Juvenile polyposis (coli): High incidence of dysplastic epithelium
    • Vaiphei K, Thapa BR. Juvenile polyposis (coli): high incidence of dysplastic epithelium. J Pediatr Surg 1997; 32: 1287-90.
    • (1997) J Pediatr Surg , vol.32 , pp. 1287-1290
    • Vaiphei, K.1    Thapa, B.R.2
  • 10
    • 12144286738 scopus 로고    scopus 로고
    • A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in madh4 (smad4)
    • Gallione CJ, Repetto GM, Legius E, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 2004; 363: 852-9.
    • (2004) Lancet , vol.363 , pp. 852-859
    • Gallione, C.J.1    Repetto, G.M.2    Legius, E.3
  • 11
    • 7844251203 scopus 로고    scopus 로고
    • Mutations in dpc4 (smad4) cause juvenile polyposis syndrome, but only account for a minority of cases
    • Houlston R, Bevan S, Williams A, et al. Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. Hum Mol Genet 1998; 7: 1907-12.
    • (1998) Hum Mol Genet , vol.7 , pp. 1907-1912
    • Houlston, R.1    Bevan, S.2    Williams, A.3
  • 12
    • 0021261655 scopus 로고
    • Familial juvenile polyposis coli; increased risk of colorectal cancer
    • Jarvinen H, 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.1    Franssila, K.O.2
  • 14
    • 80053259854 scopus 로고    scopus 로고
    • Juvenile polyps and juvenile polyp syndromes in children: A clinical and endoscopic survey
    • Hood B, Bigler S, Bishop P, et al. Juvenile polyps and juvenile polyp syndromes in children: a clinical and endoscopic survey. Clin Pediatr 2011; 50: 910-5.
    • (2011) Clin Pediatr , vol.50 , pp. 910-915
    • Hood, B.1    Bigler, S.2    Bishop, P.3
  • 15
    • 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
  • 16
    • 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
  • 17
    • 0034829630 scopus 로고    scopus 로고
    • Germline mutations in bmpr1a/alk3 cause a subset of cases of juvenile polyposis syndrome and of cowden and bannayan-riley-ruvalcaba syndromes
    • Zhou XP, Woodford-Richens K, Lehtonen R, et al. Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Am J Hum Genet 2001; 69: 704-11.
    • (2001) Am J Hum Genet , vol.69 , pp. 704-711
    • Zhou, X.P.1    Woodford-Richens, K.2    Lehtonen, R.3
  • 18
    • 0032777084 scopus 로고    scopus 로고
    • Chromosomal localization of three human genes encoding bone morphogenetic protein receptors
    • Astrom AK, Jin D, Imamura T, et al. Chromosomal localization of three human genes encoding bone morphogenetic protein receptors. Mamm Genome 1999; 10: 299-302.
    • (1999) Mamm Genome , vol.10 , pp. 299-302
    • Astrom, A.K.1    Jin, D.2    Imamura, T.3
  • 19
    • 0031688351 scopus 로고    scopus 로고
    • Assignment of the bmpr1a and bmpr1b genes to human chromosome 10q22.3 and 4q23->q24 byin situ hybridization and radiation hybrid map ping
    • Ide H, Saito-Ohara F, Ohnami S, et al. Assignment of the BMPR1A and BMPR1B genes to human chromosome 10q22.3 and 4q23->q24 byin situ hybridization and radiation hybrid map ping. Cytogenet Cell Genet 1998; 81: 285-6.
    • (1998) Cytogenet Cell Genet , vol.81 , pp. 285-286
    • Ide, H.1    Saito-Ohara, F.2    Ohnami, S.3
  • 20
    • 15744372725 scopus 로고    scopus 로고
    • Role of transforming growth factor beta in human cancer
    • Elliott RL, Blobe GC. Role of transforming growth factor Beta in human cancer. J Clin Oncol 2005; 23: 2078-93.
    • (2005) J Clin Oncol , vol.23 , pp. 2078-2093
    • Elliott, R.L.1    Blobe, G.C.2
  • 22
    • 0031128153 scopus 로고    scopus 로고
    • The tumor suppressor smad4/dpc 4 as a central mediator of smad function
    • Zhang Y, Musci T, Derynck R. The tumor suppressor Smad4/DPC 4 as a central mediator of Smad function. Curr Biol 1997; 7: 270-6.
    • (1997) Curr Biol , vol.7 , pp. 270-276
    • Zhang, Y.1    Musci, T.2    Derynck, R.3
  • 23
    • 0032529159 scopus 로고    scopus 로고
    • Smads and early developmental signaling by the tgfbeta superfamily
    • Whitman M. Smads and early developmental signaling by the TGFbeta superfamily. Genes Dev 1998; 12: 2445-62.
    • (1998) Genes Dev , vol.12 , pp. 2445-2462
    • Whitman, M.1
  • 24
    • 0032014216 scopus 로고    scopus 로고
    • Human smad3 and smad4 are sequence-specific transcription activators
    • Zawel L, Dai JL, Buckhaults P, et al. Human Smad3 and Smad4 are sequence-specific transcription activators. Mol Cell 1998; 1: 611-7.
    • (1998) Mol Cell , vol.1 , pp. 611-617
    • Zawel, L.1    Dai, J.L.2    Buckhaults, P.3
  • 26
    • 0034678908 scopus 로고    scopus 로고
    • Transcriptional control by the tgf-beta/smad signaling system
    • Massague J, Wotton D. Transcriptional control by the TGF-beta/Smad signaling system. Embo J 2000; 19: 1745-54.
    • (2000) Embo J , vol.19 , pp. 1745-1754
    • Massague, J.1    Wotton, D.2
  • 27
    • 18344378415 scopus 로고    scopus 로고
    • Common deletion of smad4 in juvenile polyposis is a mutational hotspot
    • Howe JR, Shellnut J, Wagner B, et al. Common deletion of SMAD4 in juvenile polyposis is a mutational hotspot. Am J Hum Genet 2002; 70: 1357-62.
    • (2002) Am J Hum Genet , vol.70 , pp. 1357-1362
    • Howe, J.R.1    Shellnut, J.2    Wagner, B.3
  • 28
    • 28844507521 scopus 로고    scopus 로고
    • High proportion of large genomic stk11 deletions in peutz-jeghers syndrome
    • Aretz S, Stienen D, Uhlhaas S, et al. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat 2005; 26: 513-9.
    • (2005) Hum Mutat , vol.26 , pp. 513-519
    • Aretz, S.1    Stienen, D.2    Uhlhaas, S.3
  • 29
    • 33748669256 scopus 로고    scopus 로고
    • Deletion of pten and bmpr1a on chromosome 10q23 is not always associated with juvenile polyposis of infancy
    • author reply 6-7
    • Salviati L, Patricelli M, Guariso G, et al. Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy. Am J Hum Genet 2006; 79: 593-6; author reply 6-7.
    • (2006) Am J Hum Genet , vol.79 , pp. 593-596
    • Salviati, L.1    Patricelli, M.2    Guariso, G.3
  • 30
    • 77956014553 scopus 로고    scopus 로고
    • Smad4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia
    • Iyer NK, Burke CA, Leach BH, Parambil JG. SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. Thorax 2010; 65: 745-6.
    • (2010) Thorax , vol.65 , pp. 745-746
    • Iyer, N.K.1    Burke, C.A.2    Leach, B.H.3    Parambil, J.G.4
  • 31
    • 2342458960 scopus 로고    scopus 로고
    • Will the real cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the pten hamartoma tumour syndrome
    • Pilarski R, Eng C. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J Med Genet 2004; 41: 323-6.
    • (2004) J Med Genet , vol.41 , pp. 323-326
    • Pilarski, R.1    Eng, C.2
  • 32
    • 0031875959 scopus 로고    scopus 로고
    • Bannayan- zonana syndrome: A rare autosomal dominant syndrome with multiple lipomas and hemangiomas: A case report and review of literature
    • Gujrati M, Thomas C, Zelby A, Jensen E, Lee JM. Bannayan- Zonana syndrome: a rare autosomal dominant syndrome with multiple lipomas and hemangiomas: a case report and review of literature. Surg Neurol 1998; 50: 164-8.
    • (1998) Surg Neurol , vol.50 , pp. 164-168
    • Gujrati, M.1    Thomas, C.2    Zelby, A.3    Jensen, E.4    Lee, J.M.5
  • 35
    • 84903594614 scopus 로고    scopus 로고
    • Analiza DNA, teoria i praktyka [Polish]. Słomski R (ed.). Wyd. Uniwersytetu Przyrodniczego, Poznan
    • Pławski A, Podralska M, Słomski R. Wykrywanie mutacji metoda̧ heterodupleksów. In: Analiza DNA, teoria i praktyka [Polish]. Słomski R (ed.). Wyd. Uniwersytetu Przyrodniczego, Poznan 2008; 203-8.
    • (2008) Wykrywanie Mutacji Metoda̧ Heterodupleksów , pp. 203-208
    • Pławski, A.1    Podralska, M.2    Słomski, R.3
  • 37
    • 84903568338 scopus 로고    scopus 로고
    • Analiza DNA, teoria i praktyka. Slomski R (ed.). Wyd. Uniwersytetu Przyrodniczego, Poznan
    • Słomski R, Pławski A. Sekwencjonowanie DNA - elektroforeza kapilarna. In: Analiza DNA, teoria i praktyka. Slomski R (ed.). Wyd. Uniwersytetu Przyrodniczego, Poznan 2008; 429-34.
    • (2008) Sekwencjonowanie DNA - Elektroforeza Kapilarna , pp. 429-434
    • Słomski, R.1    Pławski, A.2
  • 38
    • 0036801052 scopus 로고    scopus 로고
    • Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and peutz- jeghers syndrome
    • Dunlop MG. Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz- Jeghers syndrome. Gut 2002; 51 Suppl 5: V21-7.
    • (2002) Gut , vol.51 , Issue.SUPPL. 5
    • Dunlop, M.G.1
  • 40
    • 75149167169 scopus 로고    scopus 로고
    • Magnified endoscopic observation using narrow-band imaging of periampullary adenoma in a patient with familial adenomatous polyposis
    • Yamao T, Isomoto H, Yamaguchi N, et al. Magnified endoscopic observation using narrow-band imaging of periampullary adenoma in a patient with familial adenomatous polyposis. Med Sci Monitor 2009; 15: CS169-73.
    • (2009) Med Sci Monitor , vol.15
    • Yamao, T.1    Isomoto, H.2    Yamaguchi, N.3
  • 41
    • 0036842005 scopus 로고    scopus 로고
    • Germline smad4 or bmpr1a mutations and phenotype of juvenile polyposis
    • Sayed MG, Ahmed AF, Ringold JR, et al. Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. Ann Surg Oncol 2002; 9: 901-6.
    • (2002) Ann Surg Oncol , vol.9 , pp. 901-906
    • Sayed, M.G.1    Ahmed, A.F.2    Ringold, J.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.