메뉴 건너뛰기




Volumn 48, Issue 3, 1998, Pages 354-362

Human GFRA1: Cloning, mapping, genomic structure, and evaluation as a candidate gene for hirschsprung disease susceptibility

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 10Q; DISEASE PREDISPOSITION; EXON; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; INTRON; MOLECULAR CLONING; NERVOUS SYSTEM DEVELOPMENT; NEURAL CREST; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 0032520895     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1997.5191     Document Type: Article
Times cited : (54)

References (48)
  • 1
    • 0030292383 scopus 로고    scopus 로고
    • Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient
    • Angrist M., Bolk S., Halushka M., Lapchak P. L., Chakravarti A. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat. Genet. 14:1996;341-344.
    • (1996) Nat. Genet. , vol.14 , pp. 341-344
    • Angrist, M.1    Bolk, S.2    Halushka, M.3    Lapchak, P.L.4    Chakravarti, A.5
  • 4
    • 0029597857 scopus 로고
    • Chromosomal localization of the mouse Src-like adapter protein (Slap) gene and its putative human homolog SLA
    • Angrist M., Wells D. E., Chakravarti A., Pandey A. Chromosomal localization of the mouse Src-like adapter protein (Slap) gene and its putative human homolog SLA. Genomics. 30:1995;623-625.
    • (1995) Genomics , vol.30 , pp. 623-625
    • Angrist, M.1    Wells, D.E.2    Chakravarti, A.3    Pandey, A.4
  • 8
    • 84981776731 scopus 로고
    • A family study of Hirschsprung's disease
    • Bodian M., Carter C. O. A family study of Hirschsprung's disease. Ann. Hum. Genet. 26:1963;261-277.
    • (1963) Ann. Hum. Genet. , vol.26 , pp. 261-277
    • Bodian, M.1    Carter, C.O.2
  • 9
    • 0031030433 scopus 로고    scopus 로고
    • Neurocristopathy: Its growth and development in 20 years
    • Bolande R. P. Neurocristopathy: Its growth and development in 20 years. Pediatr. Pathol. Lab. Med. 17:1997.
    • (1997) Pediatr. Pathol. Lab. Med. , vol.17
    • Bolande, R.P.1
  • 11
    • 0030029691 scopus 로고    scopus 로고
    • Endothelin receptor-mediated signaling in Hirschsprung disease
    • Chakravarti A. Endothelin receptor-mediated signaling in Hirschsprung disease. Hum. Mol. Genet. 5:1996;303-307.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 303-307
    • Chakravarti, A.1
  • 16
    • 0030024846 scopus 로고    scopus 로고
    • Embryonic expression of glial cell-line derived neurotrophic factor (GDNF) suggests multiple developmental roles in neural differentiation and epithelial-mesenchymal interactions
    • Hellmich H. L., Kos L., Cho E. S., Mahon K. A., Zimmer A. Embryonic expression of glial cell-line derived neurotrophic factor (GDNF) suggests multiple developmental roles in neural differentiation and epithelial-mesenchymal interactions. Mech. Dev. 54:1996;95-105.
    • (1996) Mech. Dev. , vol.54 , pp. 95-105
    • Hellmich, H.L.1    Kos, L.2    Cho, E.S.3    Mahon, K.A.4    Zimmer, A.5
  • 23
    • 0029886532 scopus 로고    scopus 로고
    • Parametric and nonparametric linkage analysis: A unified multipoint approach
    • Kruglyak L., Daly M. J., Reeve-Daly M. P., Lander E. S. Parametric and nonparametric linkage analysis: A unified multipoint approach. Am. J. Hum. Genet. 58:1996;1347-1363.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 1347-1363
    • Kruglyak, L.1    Daly, M.J.2    Reeve-Daly, M.P.3    Lander, E.S.4
  • 24
    • 0030962660 scopus 로고    scopus 로고
    • Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease
    • Kusafuka T., Wang Y., Puri P. Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease. J. Pediatr. Surg. 32:1997;501-504.
    • (1997) J. Pediatr. Surg. , vol.32 , pp. 501-504
    • Kusafuka, T.1    Wang, Y.2    Puri, P.3
  • 25
    • 0030022843 scopus 로고    scopus 로고
    • Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease
    • Kusafuka T., Wang Y., Puri P. Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease. Hum. Mol. Genet. 5:1996;347-349.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 347-349
    • Kusafuka, T.1    Wang, Y.2    Puri, P.3
  • 26
    • 0030273438 scopus 로고    scopus 로고
    • GDNF in a bind with known orphan: Accessory implicated in new twist
    • Lindsay R. M., Yancopoulos G. D. GDNF in a bind with known orphan: Accessory implicated in new twist. Neuron. 17:1996;571-574.
    • (1996) Neuron , vol.17 , pp. 571-574
    • Lindsay, R.M.1    Yancopoulos, G.D.2
  • 28
    • 8044243612 scopus 로고    scopus 로고
    • Hirschsprung's disease as a neurochristopathy
    • Martucciello G. Hirschsprung's disease as a neurochristopathy. Pediatr. Surg. Int. 12:1997;2-10.
    • (1997) Pediatr. Surg. Int. , vol.12 , pp. 2-10
    • Martucciello, G.1
  • 30
    • 0030872838 scopus 로고    scopus 로고
    • PolyPhred: Automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
    • Nickerson D. A., Tobe V. O., Taylor S. L. PolyPhred: Automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res. 25:1997;2745-2751.
    • (1997) Nucleic Acids Res. , vol.25 , pp. 2745-2751
    • Nickerson, D.A.1    Tobe, V.O.2    Taylor, S.L.3
  • 31
    • 0030805792 scopus 로고    scopus 로고
    • Cellular and developmental patterns of expression of Ret and glial cell line-derived neurotrophic factor receptor alpha mRNAs
    • Nosrat C. A., Tomac A., Hoffer B. J., Olson L. Cellular and developmental patterns of expression of Ret and glial cell line-derived neurotrophic factor receptor alpha mRNAs. Exp. Brain Res. 115:1997;410-422.
    • (1997) Exp. Brain Res. , vol.115 , pp. 410-422
    • Nosrat, C.A.1    Tomac, A.2    Hoffer, B.J.3    Olson, L.4
  • 35
    • 0031040085 scopus 로고    scopus 로고
    • The GDNF-RET signalling partnership
    • Robertson K., Mason I. The GDNF-RET signalling partnership. Trends Genet. 13:1997;1-3.
    • (1997) Trends Genet. , vol.13 , pp. 1-3
    • Robertson, K.1    Mason, I.2
  • 40
    • 0028174023 scopus 로고
    • Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret
    • Schuchardt A., D'Agati V., Larsson Blomberg L., Costantini F., Pachnis V. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature. 367:1994;380-383.
    • (1994) Nature , vol.367 , pp. 380-383
    • Schuchardt, A.1    D'Agati, V.2    Larsson Blomberg, L.3    Costantini, F.4    Pachnis, V.5
  • 41
    • 0025321246 scopus 로고
    • Splice junctions, branch point sites, and exons: Sequence statistics, identification and applications to genome project
    • Senapathy P., Shapiro M. B., Harris N. L. Splice junctions, branch point sites, and exons: Sequence statistics, identification and applications to genome project. Methods Companion Methods Enzymol. 183:1990;252-278.
    • (1990) Methods Companion Methods Enzymol. , vol.183 , pp. 252-278
    • Senapathy, P.1    Shapiro, M.B.2    Harris, N.L.3
  • 43
    • 0021970463 scopus 로고
    • Hirschsprung disease in a large birth cohort
    • Spouge D., Baird P. A. Hirschsprung disease in a large birth cohort. Teratology. 32:1985;171-177.
    • (1985) Teratology , vol.32 , pp. 171-177
    • Spouge, D.1    Baird, P.A.2
  • 45
    • 84970064977 scopus 로고
    • Historical review
    • New York: Thieme-Stratton. p. 3-6
    • Swenson O. Historical review. Hirschsprung's Disease. 1982;Thieme-Stratton, New York. p. 3-6.
    • (1982) Hirschsprung's Disease
    • Swenson, O.1
  • 48
    • 0029846514 scopus 로고    scopus 로고
    • Glial cell line-derived neurotrophic factor signals through the RET receptor and activates mitogen-activated protein kinase
    • Worby C. A., Vega Q. C., Zhao Y., Chao H. H. J., Seasholtz A. F., Dixon J. E. Glial cell line-derived neurotrophic factor signals through the RET receptor and activates mitogen-activated protein kinase. J. Biol. Chem. 271:1996;23619-23622.
    • (1996) J. Biol. Chem. , vol.271 , pp. 23619-23622
    • Worby, C.A.1    Vega, Q.C.2    Zhao, Y.3    Chao, H.H.J.4    Seasholtz, A.F.5    Dixon, J.E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.