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Volumn 43, Issue 7, 2008, Pages 1308-1311

NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease

Author keywords

dHPLC; Germline mutation; Haplotype; Hirschsprung; Neurotrophins

Indexed keywords

NEUROTROPHIN 3 RECEPTOR;

EID: 47249114782     PISSN: 00223468     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpedsurg.2008.02.076     Document Type: Article
Times cited : (25)

References (14)
  • 1
  • 3
    • 33751079621 scopus 로고    scopus 로고
    • A complex additive model of inheritance for HSCR is supported by both RET mutations and predisposing RET haplotypes
    • Ruiz-Ferrer M., Fernandez R.M., Antiñolo G., et al. A complex additive model of inheritance for HSCR is supported by both RET mutations and predisposing RET haplotypes. Genet Med 8 (2006) 704-710
    • (2006) Genet Med , vol.8 , pp. 704-710
    • Ruiz-Ferrer, M.1    Fernandez, R.M.2    Antiñolo, G.3
  • 4
    • 17144373665 scopus 로고    scopus 로고
    • Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249
    • Fernandez R.M., Boru G., Pecina A., et al. Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249. J Med Genet 42 (2005) 322-327
    • (2005) J Med Genet , vol.42 , pp. 322-327
    • Fernandez, R.M.1    Boru, G.2    Pecina, A.3
  • 5
    • 13444311533 scopus 로고    scopus 로고
    • A common haplotype at the 5¢ end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression
    • Griseri P., Bachetti T., Puppo F., et al. A common haplotype at the 5¢ end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression. Hum Mutat 25 (2005) 189-195
    • (2005) Hum Mutat , vol.25 , pp. 189-195
    • Griseri, P.1    Bachetti, T.2    Puppo, F.3
  • 6
    • 19944430369 scopus 로고    scopus 로고
    • TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease
    • Garcia-Barcelo M., Ganster R.W., Lui V.C., et al. TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease. Hum Mol Genet 14 (2005) 191-204
    • (2005) Hum Mol Genet , vol.14 , pp. 191-204
    • Garcia-Barcelo, M.1    Ganster, R.W.2    Lui, V.C.3
  • 7
    • 20244382845 scopus 로고    scopus 로고
    • Identifying candidate Hirschsprung disease-associated RET variants
    • Burzynski G.M., Nolte I.M., Bronda A., et al. Identifying candidate Hirschsprung disease-associated RET variants. Am J Hum Genet 76 (2005) 850-858
    • (2005) Am J Hum Genet , vol.76 , pp. 850-858
    • Burzynski, G.M.1    Nolte, I.M.2    Bronda, A.3
  • 8
    • 29644443837 scopus 로고    scopus 로고
    • Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease
    • Pelet A., de Pontual L., Clement-Ziza M., et al. Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease. J Med Genet 42 (2005) e18
    • (2005) J Med Genet , vol.42
    • Pelet, A.1    de Pontual, L.2    Clement-Ziza, M.3
  • 9
    • 0347480303 scopus 로고    scopus 로고
    • Neurotrophin-3 in the development of enteric nervous system
    • Chalazonitis A. Neurotrophin-3 in the development of enteric nervous system. Prog Brain Res 146 (2004) 246-263
    • (2004) Prog Brain Res , vol.146 , pp. 246-263
    • Chalazonitis, A.1
  • 10
    • 0029843443 scopus 로고    scopus 로고
    • Alterations in neurotrophin and neurotrophin-receptor localization in Hirschsprung's disease
    • Hoehner J.C., Wester T., Pahlman S., et al. Alterations in neurotrophin and neurotrophin-receptor localization in Hirschsprung's disease. J Pediatr Surg 31 (1996) 1524-1529
    • (1996) J Pediatr Surg , vol.31 , pp. 1524-1529
    • Hoehner, J.C.1    Wester, T.2    Pahlman, S.3
  • 11
    • 0003541460 scopus 로고
    • Dracapoli N.H., Haines J.L., and Korf B.R. (Eds), John Wiley & Sons, New York
    • In: Dracapoli N.H., Haines J.L., and Korf B.R. (Eds). Current protocols in human genetics (1994), John Wiley & Sons, New York
    • (1994) Current protocols in human genetics
  • 12
    • 0024027151 scopus 로고    scopus 로고
    • Processing and secretion of nerve growth factor: expression in mammalian cells with a vaccinia virus vector
    • Edwards R.H., Selby M.J., Mobley W.C., et al. Processing and secretion of nerve growth factor: expression in mammalian cells with a vaccinia virus vector. Mol Cell Biol 8 (1998) 2456-2464
    • (1998) Mol Cell Biol , vol.8 , pp. 2456-2464
    • Edwards, R.H.1    Selby, M.J.2    Mobley, W.C.3
  • 13
    • 0025886159 scopus 로고
    • Two conserved domains in the NGF propeptide are necessary and sufficient for the biosynthesis of correctly processed and biologically active NGF
    • Suter U., Heymach Jr. J.V., and Shooter E.M. Two conserved domains in the NGF propeptide are necessary and sufficient for the biosynthesis of correctly processed and biologically active NGF. EMBO J 10 (1991) 2395-2400
    • (1991) EMBO J , vol.10 , pp. 2395-2400
    • Suter, U.1    Heymach Jr., J.V.2    Shooter, E.M.3
  • 14
    • 33750353461 scopus 로고    scopus 로고
    • Predicting the effects of amino acid substitutions on protein function
    • Ng P.C., and Henikoff S. Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet 7 (2006) 61-80
    • (2006) Annu Rev Genomics Hum Genet , vol.7 , pp. 61-80
    • Ng, P.C.1    Henikoff, S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.