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Volumn 17, Issue 1, 2003, Pages 49-54

Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: Predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome

Author keywords

Down's syndrome; Endothelin B receptor gene; Hirschsprung's disease; Polymorphism; RET proto oncogene

Indexed keywords

ENDOTHELIN B RECEPTOR;

EID: 0037291480     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0890-8508(03)00003-3     Document Type: Article
Times cited : (23)

References (46)
  • 1
    • 33751118285 scopus 로고
    • Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung's disease
    • Okamoto E., Ueda T. Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung's disease. J Pediatr Surg. 2:1967;437-443.
    • (1967) J Pediatr Surg , vol.2 , pp. 437-443
    • Okamoto, E.1    Ueda, T.2
  • 2
    • 0014210694 scopus 로고
    • The genetics of Hirschsprung's disease, evidence for heterogeneous etiology and a study of sixty-three families
    • Passarge E. The genetics of Hirschsprung's disease, evidence for heterogeneous etiology and a study of sixty-three families. New Eng J Med. 276:1967;138-143.
    • (1967) New Eng J Med , vol.276 , pp. 138-143
    • Passarge, E.1
  • 3
    • 0022393182 scopus 로고
    • Hirschsprung's disease, a genetic study
    • Garver K.L., Law J.C., Garver B. Hirschsprung's disease, a genetic study. Clin Genet. 28:1985;503-508.
    • (1985) Clin Genet , vol.28 , pp. 503-508
    • Garver, K.L.1    Law, J.C.2    Garver, B.3
  • 6
    • 0001322203 scopus 로고
    • Hirschsprung's disease with radiological observations
    • Bodian M., Carter C., Ward B. Hirschsprung's disease with radiological observations. Lancet. 1:1951;302-309.
    • (1951) Lancet , vol.1 , pp. 302-309
    • Bodian, M.1    Carter, C.2    Ward, B.3
  • 7
    • 0023036805 scopus 로고
    • Hirschsprung's disease in the newborn
    • Polly T., Coran A. Hirschsprung's disease in the newborn. Pediatr Surg Int. 1:1993;80-83.
    • (1993) Pediatr Surg Int , vol.1 , pp. 80-83
    • Polly, T.1    Coran, A.2
  • 8
    • 0027232235 scopus 로고
    • Hirschsprung's disease, clinical and experimental observations
    • Puri P. Hirschsprung's disease, clinical and experimental observations. World J Surg. 17:1993;374-384.
    • (1993) World J Surg , vol.17 , pp. 374-384
    • Puri, P.1
  • 9
    • 0028358232 scopus 로고
    • The influence of trisomy 21 on outcome in children with Hirschsprung's disease
    • Quinn F.M., Surana R., Puri P. The influence of trisomy 21 on outcome in children with Hirschsprung's disease. J Pediatr Surg. 29:1994;781-783.
    • (1994) J Pediatr Surg , vol.29 , pp. 781-783
    • Quinn, F.M.1    Surana, R.2    Puri, P.3
  • 10
    • 0031927502 scopus 로고    scopus 로고
    • Hirschsprung's disease, genetic and functional associations of Down's and Waardenburg's syndromes
    • Moore S.W., Johnson A.G. Hirschsprung's disease, genetic and functional associations of Down's and Waardenburg's syndromes. Semin Pediatr Surg. 7:1998;156-161.
    • (1998) Semin Pediatr Surg , vol.7 , pp. 156-161
    • Moore, S.W.1    Johnson, A.G.2
  • 11
    • 0028618372 scopus 로고
    • A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
    • Puffenberger E.G., Hosoda K., Washington S.S., et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell. 79:1994;1257-1266.
    • (1994) Cell , vol.79 , pp. 1257-1266
    • Puffenberger, E.G.1    Hosoda, K.2    Washington, S.S.3
  • 12
    • 0027219581 scopus 로고
    • A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10
    • Angrist M., Kauffman E., Slaugenhaupt S.A., et al. A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nat Genet. 4:1993;351-356.
    • (1993) Nat Genet , vol.4 , pp. 351-356
    • Angrist, M.1    Kauffman, E.2    Slaugenhaupt, S.A.3
  • 13
    • 0027378022 scopus 로고
    • Close linkage with the RET proto-oncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease
    • Luo Y., Ceccherini I., Pasini B., et al. Close linkage with the RET proto-oncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease. Hum Mol Genet. 2:1993;1803-1808.
    • (1993) Hum Mol Genet , vol.2 , pp. 1803-1808
    • Luo, Y.1    Ceccherini, I.2    Pasini, B.3
  • 14
    • 0027972513 scopus 로고
    • Mutations of the RET proto-oncogene in Hirschsprung's disease
    • Edery P., Lyonnet S., Mulligan L.M., et al. Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature. 367:1994;378-380.
    • (1994) Nature , vol.367 , pp. 378-380
    • Edery, P.1    Lyonnet, S.2    Mulligan, L.M.3
  • 15
    • 0028120882 scopus 로고
    • Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
    • Romeo G., Ronchetto P., Luo Y., et al. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature. 367:1994;378-380.
    • (1994) Nature , vol.367 , pp. 378-380
    • Romeo, G.1    Ronchetto, P.2    Luo, Y.3
  • 16
    • 0029119781 scopus 로고
    • Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
    • Attie T., Pelet A., Edery P., et al. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet. 4:1995;1381-1386.
    • (1995) Hum Mol Genet , vol.4 , pp. 1381-1386
    • Attie, T.1    Pelet, A.2    Edery, P.3
  • 17
    • 0021722228 scopus 로고
    • Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3)
    • Sparkes R.S., Sparkes M.C., Kalina R.E., Pagon R.A., Salk D.J., Disteche C.M. Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3). Hum Genet. 68:1984;258-259.
    • (1984) Hum Genet , vol.68 , pp. 258-259
    • Sparkes, R.S.1    Sparkes, M.C.2    Kalina, R.E.3    Pagon, R.A.4    Salk, D.J.5    Disteche, C.M.6
  • 18
    • 0024358095 scopus 로고
    • Association of 13q deletion and Hirschsprung's disease
    • Kiss P., Osztovics M. Association of 13q deletion and Hirschsprung's disease. J Med Genet. 26:1989;793-794.
    • (1989) J Med Genet , vol.26 , pp. 793-794
    • Kiss, P.1    Osztovics, M.2
  • 19
    • 0024576097 scopus 로고
    • Interstitial deletion of distal 13q associated with Hirschsprung disease
    • Lamont M.A., Fitchett M., Dennis N.R. Interstitial deletion of distal 13q associated with Hirschsprung disease. J Med Genet. 26:1989;100-104.
    • (1989) J Med Genet , vol.26 , pp. 100-104
    • Lamont, M.A.1    Fitchett, M.2    Dennis, N.R.3
  • 20
    • 0025944896 scopus 로고
    • A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2), potential mapping of one disease locus
    • Bottani A., Xie Y.G., Binkert F., Schnizel A. A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2), potential mapping of one disease locus. Hum Genet. 87:1991;748-750.
    • (1991) Hum Genet , vol.87 , pp. 748-750
    • Bottani, A.1    Xie, Y.G.2    Binkert, F.3    Schnizel, A.4
  • 21
    • 0028069130 scopus 로고
    • Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22
    • Puffenberger E.G., Kauffman E.R., Bolk S., et al. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet. 3:1994;1217-1225.
    • (1994) Hum Mol Genet , vol.3 , pp. 1217-1225
    • Puffenberger, E.G.1    Kauffman, E.R.2    Bolk, S.3
  • 22
    • 0028609612 scopus 로고
    • Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons
    • Baynash A.G., Hosoda K., Giaid A., et al. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell. 79:1994;1277-1285.
    • (1994) Cell , vol.79 , pp. 1277-1285
    • Baynash, A.G.1    Hosoda, K.2    Giaid, A.3
  • 23
    • 0028639196 scopus 로고
    • Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color mice
    • Hosoda K., Hammer R.E., Richardson J.A., et al. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color mice. Cell. 79:1994;1267-1276.
    • (1994) Cell , vol.79 , pp. 1267-1276
    • Hosoda, K.1    Hammer, R.E.2    Richardson, J.A.3
  • 24
    • 0030033185 scopus 로고    scopus 로고
    • Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color
    • Gariepy C.E., Cass D.T., Yanagisawa M. Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color. Proc Natl Acad Sci USA. 93:1996;867-872.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 867-872
    • Gariepy, C.E.1    Cass, D.T.2    Yanagisawa, M.3
  • 25
    • 0033518175 scopus 로고    scopus 로고
    • The temporal requirement for endothelin receptor-B signaling during neural crest development
    • Shin M.K., Levorse J.M., Ingram R.S., Tilghman S.M. The temporal requirement for endothelin receptor-B signaling during neural crest development. Nature. 402:1999;496-501.
    • (1999) Nature , vol.402 , pp. 496-501
    • Shin, M.K.1    Levorse, J.M.2    Ingram, R.S.3    Tilghman, S.M.4
  • 26
    • 0033522203 scopus 로고    scopus 로고
    • Novel endothelin B receptor transcripts with the potential of generating a new receptor
    • Tsutsumi M., Liang G., Jones P.A. Novel endothelin B receptor transcripts with the potential of generating a new receptor. Gene. 228:1999;43-49.
    • (1999) Gene , vol.228 , pp. 43-49
    • Tsutsumi, M.1    Liang, G.2    Jones, P.A.3
  • 27
    • 0027499701 scopus 로고
    • The human endothelin-B receptor gene: Structural organization and chromosomal assignment
    • Arai H., Nakao K., Takaya K., et al. The human endothelin-B receptor gene: structural organization and chromosomal assignment. J Biol Chem. 268:1993;3463-3470.
    • (1993) J Biol Chem , vol.268 , pp. 3463-3470
    • Arai, H.1    Nakao, K.2    Takaya, K.3
  • 28
    • 0030070810 scopus 로고    scopus 로고
    • Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population
    • Auricchio A., Casari G., Stalano A., Ballabio A. Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. Hum Mol Genet. 5:1996;351-354.
    • (1996) Hum Mol Genet , vol.5 , pp. 351-354
    • Auricchio, A.1    Casari, G.2    Stalano, A.3    Ballabio, A.4
  • 29
    • 0030029691 scopus 로고    scopus 로고
    • Endothelin receptor-mediated signalling in Hirschsprung disease
    • Chakravarti A. Endothelin receptor-mediated signalling in Hirschsprung disease. Hum Mol Genet. 5:1996;303-307.
    • (1996) Hum Mol Genet , vol.5 , pp. 303-307
    • Chakravarti, A.1
  • 30
    • 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
  • 31
    • 9044220230 scopus 로고    scopus 로고
    • Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
    • Amiel J., Attie T., Jan D., et al. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet. 5:1996;355-358.
    • (1996) Hum Mol Genet , vol.5 , pp. 355-358
    • Amiel, J.1    Attie, T.2    Jan, D.3
  • 32
    • 0034968236 scopus 로고    scopus 로고
    • Novel RET mutations in Hirschsprung's disease patients from the diverse South African population
    • Julies M.G., Moore S.W., Kotze M.J., du Plessis L. Novel RET mutations in Hirschsprung's disease patients from the diverse South African population. Eur J Hum Genet. 9:2001;419-423.
    • (2001) Eur J Hum Genet , vol.9 , pp. 419-423
    • Julies, M.G.1    Moore, S.W.2    Kotze, M.J.3    Du Plessis, L.4
  • 33
    • 0033055180 scopus 로고    scopus 로고
    • Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry
    • Loubser O., Marais A.D., Kotze M.J., et al. Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry. Clin Genet. 55:1999;340-345.
    • (1999) Clin Genet , vol.55 , pp. 340-345
    • Loubser, O.1    Marais, A.D.2    Kotze, M.J.3
  • 34
    • 0017148259 scopus 로고
    • A general method for isolation of high molecular weight DNA from eukaryotes
    • Blin N., Stafford D.W. A general method for isolation of high molecular weight DNA from eukaryotes. Nucleic Acids Res. 3:1976;2303-2308.
    • (1976) Nucleic Acids Res , vol.3 , pp. 2303-2308
    • Blin, N.1    Stafford, D.W.2
  • 35
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1988;1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 36
    • 0026331904 scopus 로고
    • Poorly differentiated adenocarcinoma with lymphoid stroma (lymphoepithelioma-like carcinomas) of the stomach. Report of three cases with Epstein-Barr virus genome demonstrated by the polymerase chain reaction
    • Min K.W., Holmquist S., Peiper S.C., O'Leary T.J. Poorly differentiated adenocarcinoma with lymphoid stroma (lymphoepithelioma-like carcinomas) of the stomach. Report of three cases with Epstein-Barr virus genome demonstrated by the polymerase chain reaction. Am J Clin Pathol. 96:1991;219-227.
    • (1991) Am J Clin Pathol , vol.96 , pp. 219-227
    • Min, K.W.1    Holmquist, S.2    Peiper, S.C.3    O'Leary, T.J.4
  • 37
    • 12644284522 scopus 로고    scopus 로고
    • Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease
    • Bidaud C., Salomon R., van Camp G., et al. Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. Eur J Hum Genet. 5:1997;247-251.
    • (1997) Eur J Hum Genet , vol.5 , pp. 247-251
    • Bidaud, C.1    Salomon, R.2    Van Camp, G.3
  • 38
    • 0029008387 scopus 로고
    • Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations
    • Kotze M.J., Theart L., Callis M., Peeters A.V., Thiart R., Langenhoven E. Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations. PCR Methods Appl. 4:1995;352-356.
    • (1995) PCR Methods Appl , vol.4 , pp. 352-356
    • Kotze, M.J.1    Theart, L.2    Callis, M.3    Peeters, A.V.4    Thiart, R.5    Langenhoven, E.6
  • 39
    • 2442750413 scopus 로고    scopus 로고
    • Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression
    • Borrego S., Sáez M.E., Ruiz A., et al. Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. J Med Genet. 36:1999;771-774.
    • (1999) J Med Genet , vol.36 , pp. 771-774
    • Borrego, S.1    Sáez, M.E.2    Ruiz, A.3
  • 40
    • 0033358728 scopus 로고    scopus 로고
    • Sequence diversity in 36 candidate genes for cardiovascular disorders
    • Cambien F., Poirier O., Nicaud V., et al. Sequence diversity in 36 candidate genes for cardiovascular disorders. Am J Hum Genet. 65:1999;183-191.
    • (1999) Am J Hum Genet , vol.65 , pp. 183-191
    • Cambien, F.1    Poirier, O.2    Nicaud, V.3
  • 41
    • 0032991552 scopus 로고    scopus 로고
    • Characterization of single-nucleotide polymorphisms in coding regions of human genes
    • Cargill M., Altshuler D., Ireland J., et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet. 22:1999;231-238.
    • (1999) Nat Genet , vol.22 , pp. 231-238
    • Cargill, M.1    Altshuler, D.2    Ireland, J.3
  • 42
    • 0033357992 scopus 로고    scopus 로고
    • Association of RET proto-oncogene codon 45 polymorphism with Hirschsprung disease
    • Fitze G., Schreiber M., Kuhlisch E., Schackert H.K., Roesner D. Association of RET proto-oncogene codon 45 polymorphism with Hirschsprung disease. Am J Hum Genet. 65:1999;1469-1473.
    • (1999) Am J Hum Genet , vol.65 , pp. 1469-1473
    • Fitze, G.1    Schreiber, M.2    Kuhlisch, E.3    Schackert, H.K.4    Roesner, D.5
  • 43
    • 0040156804 scopus 로고    scopus 로고
    • Apolipoprotein E polymorphism in the early onset of coronary heart disease
    • Yang Z., Zhu T., Ma G., et al. Apolipoprotein E polymorphism in the early onset of coronary heart disease. Chin Med J. 114:2001;983-985.
    • (2001) Chin Med J , vol.114 , pp. 983-985
    • Yang, Z.1    Zhu, T.2    Ma, G.3
  • 44
    • 0036178211 scopus 로고    scopus 로고
    • The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in Whites, Japanese, and Africans
    • Rosenberg N., Murata M., Ikeda Y., et al. The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in Whites, Japanese, and Africans. Am J Hum Genet. 70:2002;758-762.
    • (2002) Am J Hum Genet , vol.70 , pp. 758-762
    • Rosenberg, N.1    Murata, M.2    Ikeda, Y.3
  • 45
    • 18244377693 scopus 로고    scopus 로고
    • Interpreting epidemiological research: Blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1
    • Eng C., Brody L.C., Wagner T.M., et al. Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1. J Med Genet. 38:2001;824-833.
    • (2001) J Med Genet , vol.38 , pp. 824-833
    • Eng, C.1    Brody, L.C.2    Wagner, T.M.3
  • 46
    • 0033545406 scopus 로고    scopus 로고
    • Over representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation
    • Gimm O., Neuberg D.S., Marsh D.J., et al. Over representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation. Oncogene. 18:1999;1369-1373.
    • (1999) Oncogene , vol.18 , pp. 1369-1373
    • Gimm, O.1    Neuberg, D.S.2    Marsh, D.J.3


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