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Volumn 50, Issue 4, 2008, Pages 908-911

Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders

Author keywords

1p; Alagille; JAG1; Nephroblastoma; NOTCH

Indexed keywords

ALAGILLE SYNDROME; ARTICLE; BILE DUCT MALFORMATION; CASE REPORT; CHILD; CHROMOSOME 1P; CHROMOSOME 20P; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; EYE MALFORMATION; FACE DYSMORPHIA; FEMALE; GENE; GENE IDENTIFICATION; HUMAN; JAG1 GENE; KIDNEY MALFORMATION; MISSENSE MUTATION; NEPHROBLASTOMA; PRIORITY JOURNAL; RARE DISEASE; VERTEBRA MALFORMATION;

EID: 40449125212     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.21255     Document Type: Article
Times cited : (9)

References (16)
  • 1
    • 0034067631 scopus 로고    scopus 로고
    • Congenital malformations and childhood cancer
    • Nishi M, Miyake H, Takeda T, et al. Congenital malformations and childhood cancer. Med Ped Oncol 2000;34:250-254.
    • (2000) Med Ped Oncol , vol.34 , pp. 250-254
    • Nishi, M.1    Miyake, H.2    Takeda, T.3
  • 2
    • 0023188919 scopus 로고
    • Incidence of cardiac septal defects in children with Wilms' tumour and other malignant diseases
    • Stiller CA, Lennox EL, Wilson LM. Incidence of cardiac septal defects in children with Wilms' tumour and other malignant diseases. Carcinogenesis 1987;8:129-132.
    • (1987) Carcinogenesis , vol.8 , pp. 129-132
    • Stiller, C.A.1    Lennox, E.L.2    Wilson, L.M.3
  • 3
    • 0034877469 scopus 로고    scopus 로고
    • Outcome of liver disease in children with Alagille syndrome: A study of 163 patients
    • Lykavieris P, Hadchouel M, Chardot C, et al. Outcome of liver disease in children with Alagille syndrome: A study of 163 patients. Gut 2001;49:431-435.
    • (2001) Gut , vol.49 , pp. 431-435
    • Lykavieris, P.1    Hadchouel, M.2    Chardot, C.3
  • 4
    • 0033017848 scopus 로고    scopus 로고
    • Features of Alagille syndrome in 92 patients: Frequency and relation to prognosis
    • Emerick KM, Rand EB, Goldmuntz E, et al. Features of Alagille syndrome in 92 patients: Frequency and relation to prognosis. Hepatology 1999;29:822-829.
    • (1999) Hepatology , vol.29 , pp. 822-829
    • Emerick, K.M.1    Rand, E.B.2    Goldmuntz, E.3
  • 5
    • 0038875342 scopus 로고    scopus 로고
    • Alagille syndrome is caused by mutations in human Jagged 1, which encodes a ligand for Notch 1
    • Li L, Krantz ID, Deng Y, et al. Alagille syndrome is caused by mutations in human Jagged 1, which encodes a ligand for Notch 1. Nat Genet 1997;16:243-251.
    • (1997) Nat Genet , vol.16 , pp. 243-251
    • Li, L.1    Krantz, I.D.2    Deng, Y.3
  • 6
    • 0035261057 scopus 로고    scopus 로고
    • Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients
    • Colliton RP, Bason L, Lu FM, et al. Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients. Hum Mut 2001;17:151-152.
    • (2001) Hum Mut , vol.17 , pp. 151-152
    • Colliton, R.P.1    Bason, L.2    Lu, F.M.3
  • 7
    • 0037209047 scopus 로고    scopus 로고
    • Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome
    • Röpke A, Kujat A, Gräber M, et al. Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. Hum Mut 2003;21:100-104.
    • (2003) Hum Mut , vol.21 , pp. 100-104
    • Röpke, A.1    Kujat, A.2    Gräber, M.3
  • 8
    • 14644410412 scopus 로고    scopus 로고
    • Hepatocellular carcinoma occurring in Alagille syndrome
    • Kim B, Park SH, Yang HR, et al. Hepatocellular carcinoma occurring in Alagille syndrome. Pathol Res Pract 2005;201:55-60.
    • (2005) Pathol Res Pract , vol.201 , pp. 55-60
    • Kim, B.1    Park, S.H.2    Yang, H.R.3
  • 9
    • 0023555656 scopus 로고
    • Glomerular mesangiolipidosis in Alagille syndrome (arteriohepatic dysplasia)
    • Habib R, Dommergues JP, Gubler C, et al. Glomerular mesangiolipidosis in Alagille syndrome (arteriohepatic dysplasia). Pediatr Nephrol 1987;1:455-464.
    • (1987) Pediatr Nephrol , vol.1 , pp. 455-464
    • Habib, R.1    Dommergues, J.P.2    Gubler, C.3
  • 10
    • 23144454115 scopus 로고    scopus 로고
    • Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation
    • Harendza S, Hubner CA, Glaser C. Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation. J Nephrol 2005;18:312-317.
    • (2005) J Nephrol , vol.18 , pp. 312-317
    • Harendza, S.1    Hubner, C.A.2    Glaser, C.3
  • 11
    • 33646366173 scopus 로고    scopus 로고
    • Notch 1 activation in the molecular pathogenesis of T-cell acute lymphoblastic leukaemia
    • Graber C, von Boehmer H, Look AT. Notch 1 activation in the molecular pathogenesis of T-cell acute lymphoblastic leukaemia. Nat Cancer Rev 2006;6:347-359.
    • (2006) Nat Cancer Rev , vol.6 , pp. 347-359
    • Graber, C.1    von Boehmer, H.2    Look, A.T.3
  • 12
    • 13244298117 scopus 로고    scopus 로고
    • Notch and epithelial- mesenchyme transition in development and tumor progression: Another turn of the screw
    • Grego-Bessa J, Diez J, Timmerman L, et al. Notch and epithelial- mesenchyme transition in development and tumor progression: Another turn of the screw. Cell cycle 2004;3:718-721.
    • (2004) Cell cycle , vol.3 , pp. 718-721
    • Grego-Bessa, J.1    Diez, J.2    Timmerman, L.3
  • 13
    • 33745232796 scopus 로고    scopus 로고
    • NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
    • McDaniel R, Wharten DM, Sanchez-Lara PA, et al. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet 2006;79:169-173.
    • (2006) Am J Hum Genet , vol.79 , pp. 169-173
    • McDaniel, R.1    Wharten, D.M.2    Sanchez-Lara, P.A.3
  • 14
    • 31444451325 scopus 로고    scopus 로고
    • Loss of heterozygosity for chromosomes 1p and 16q is an adverse prognostic factor in favorable-histology Wilms tumor: A report from the National Wilms Tumor Study Group
    • Grundy PE, Breslow NE, Li S, et al. Loss of heterozygosity for chromosomes 1p and 16q is an adverse prognostic factor in favorable-histology Wilms tumor: A report from the National Wilms Tumor Study Group. J Clin Oncol 2005;23:7312-7321.
    • (2005) J Clin Oncol , vol.23 , pp. 7312-7321
    • Grundy, P.E.1    Breslow, N.E.2    Li, S.3
  • 15
    • 33747873767 scopus 로고    scopus 로고
    • Array CGH profiling of favourable histology Wilms tumours reveals novel gains and losses associated with relapse
    • Natrajan R, Williams RD, Hing SN, et al. Array CGH profiling of favourable histology Wilms tumours reveals novel gains and losses associated with relapse. J Pathol 2006;210:49-58.
    • (2006) J Pathol , vol.210 , pp. 49-58
    • Natrajan, R.1    Williams, R.D.2    Hing, S.N.3
  • 16
    • 0029765587 scopus 로고    scopus 로고
    • Identification of novel regions of deletion in familial Wilms' tumor by comparative genomic hybridization
    • Altura RA, Valentine M, Li H, et al. Identification of novel regions of deletion in familial Wilms' tumor by comparative genomic hybridization. Cancer Res 1996;56:3837-3841.
    • (1996) Cancer Res , vol.56 , pp. 3837-3841
    • Altura, R.A.1    Valentine, M.2    Li, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.