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Volumn 6, Issue 9, 2011, Pages

Genetic background strongly modifies the severity of symptoms of hirschsprung disease, but not hearing loss in rats carrying Ednrb sl mutations

Author keywords

[No Author keywords available]

Indexed keywords

G PROTEIN COUPLED RECEPTOR; ENDOTHELIN B RECEPTOR; MICROSATELLITE DNA;

EID: 80052526221     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0024086     Document Type: Article
Times cited : (27)

References (51)
  • 1
    • 0030139478 scopus 로고    scopus 로고
    • Hirschsprung's disease
    • Skinner MA, (1996) Hirschsprung's disease. Curr Probl Surg 33: 389-460.
    • (1996) Curr Probl Surg , vol.33 , pp. 389-460
    • Skinner, M.A.1
  • 3
    • 0036578787 scopus 로고    scopus 로고
    • Dissecting Hirschsprung disease
    • Passarge E, (2002) Dissecting Hirschsprung disease. Nat Genet 31: 11-12.
    • (2002) Nat Genet , vol.31 , pp. 11-12
    • Passarge, E.1
  • 4
    • 34249007508 scopus 로고    scopus 로고
    • Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies
    • Heanue TA, Pachnis V, (2007) Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies. Nat Rev Neurosci 8: 466-479.
    • (2007) Nat Rev Neurosci , vol.8 , pp. 466-479
    • Heanue, T.A.1    Pachnis, V.2
  • 5
    • 77958470157 scopus 로고    scopus 로고
    • Genetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10(Dom) model of Hirschsprung disease
    • Walters LC, Cantrell VA, Weller KP, Mosher JT, Southard-Smith EM, (2010) Genetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10(Dom) model of Hirschsprung disease. Human Molecular Genetics 19: 4353-4372.
    • (2010) Human Molecular Genetics , vol.19 , pp. 4353-4372
    • Walters, L.C.1    Cantrell, V.A.2    Weller, K.P.3    Mosher, J.T.4    Southard-Smith, E.M.5
  • 6
    • 0027219581 scopus 로고
    • A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10
    • Angrist M, Kauffman E, Slaugenhaupt SA, Matise TC, Puffenberger EG, et al. (1993) A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nat Genet 4: 351-356.
    • (1993) Nat Genet , vol.4 , pp. 351-356
    • Angrist, M.1    Kauffman, E.2    Slaugenhaupt, S.A.3    Matise, T.C.4    Puffenberger, E.G.5
  • 7
    • 0027378022 scopus 로고
    • Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease
    • Luo Y, Ceccherini I, Pasini B, Matera I, Bicocchi MP, et al. (1993) Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease. Hum Mol Genet 2: 1803-1808.
    • (1993) Hum Mol Genet , vol.2 , pp. 1803-1808
    • Luo, Y.1    Ceccherini, I.2    Pasini, B.3    Matera, I.4    Bicocchi, M.P.5
  • 8
    • 0027185569 scopus 로고
    • A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10
    • Lyonnet S, Bolino A, Pelet A, Abel L, Nihoul-Fekete C, et al. (1993) A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet 4: 346-350.
    • (1993) Nat Genet , vol.4 , pp. 346-350
    • Lyonnet, S.1    Bolino, A.2    Pelet, A.3    Abel, L.4    Nihoul-Fekete, C.5
  • 9
    • 9044220230 scopus 로고    scopus 로고
    • Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
    • Amiel J, Attie T, Jan D, Pelet A, Edery P, et al. (1996) Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Human Molecular Genetics 5: 355-357.
    • (1996) Human Molecular Genetics , vol.5 , pp. 355-357
    • Amiel, J.1    Attie, T.2    Jan, D.3    Pelet, A.4    Edery, P.5
  • 10
    • 0028862473 scopus 로고
    • Mutation of the Endothelin-Receptor-B Gene in Waardenburg-Hirschsprung-Disease
    • Attie T, Till M, Pelet A, Amiel J, Edery P, et al. (1995) Mutation of the Endothelin-Receptor-B Gene in Waardenburg-Hirschsprung-Disease. Human Molecular Genetics 4: 2407-2409.
    • (1995) Human Molecular Genetics , vol.4 , pp. 2407-2409
    • Attie, T.1    Till, M.2    Pelet, A.3    Amiel, J.4    Edery, P.5
  • 11
    • 0033527619 scopus 로고    scopus 로고
    • Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease
    • Syrris P, Carter ND, Patton MA, (1999) Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease. American Journal of Medical Genetics 87: 69-71.
    • (1999) American Journal of Medical Genetics , vol.87 , pp. 69-71
    • Syrris, P.1    Carter, N.D.2    Patton, M.A.3
  • 12
    • 0034845504 scopus 로고    scopus 로고
    • A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome
    • Boardman JP, Syrris P, Holder SE, Robertson NJ, Carter N, et al. (2001) A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome. Journal of Medical Genetics 38: 646-647.
    • (2001) Journal of Medical Genetics , vol.38 , pp. 646-647
    • Boardman, J.P.1    Syrris, P.2    Holder, S.E.3    Robertson, N.J.4    Carter, N.5
  • 13
    • 0030022843 scopus 로고    scopus 로고
    • Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease
    • Kusafuka T, Wang YP, Puri P, (1996) Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease. Human Molecular Genetics 5: 347-349.
    • (1996) Human Molecular Genetics , vol.5 , pp. 347-349
    • Kusafuka, T.1    Wang, Y.P.2    Puri, P.3
  • 14
    • 0028618372 scopus 로고
    • A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
    • Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, et al. (1994) A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79: 1257-1266.
    • (1994) Cell , vol.79 , pp. 1257-1266
    • Puffenberger, E.G.1    Hosoda, K.2    Washington, S.S.3    Nakao, K.4    deWit, D.5
  • 15
    • 0030070810 scopus 로고    scopus 로고
    • Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population
    • Auricchio A, Casari G, Staiano A, Ballabio A, (1996) Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. Hum Mol Genet 5: 351-354.
    • (1996) Hum Mol Genet , vol.5 , pp. 351-354
    • Auricchio, A.1    Casari, G.2    Staiano, A.3    Ballabio, A.4
  • 16
    • 0032079479 scopus 로고    scopus 로고
    • Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization
    • Tanaka H, Moroi K, Iwai J, Takahashi H, Ohnuma N, et al. (1998) Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization. Journal of Biological Chemistry 273: 11378-11383.
    • (1998) Journal of Biological Chemistry , vol.273 , pp. 11378-11383
    • Tanaka, H.1    Moroi, K.2    Iwai, J.3    Takahashi, H.4    Ohnuma, N.5
  • 17
    • 0006457459 scopus 로고    scopus 로고
    • Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
    • Edery P, Attie T, Amiel J, Pelet A, Eng C, et al. (1996) Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nature Genetics 12: 442-444.
    • (1996) Nature Genetics , vol.12 , pp. 442-444
    • Edery, P.1    Attie, T.2    Amiel, J.3    Pelet, A.4    Eng, C.5
  • 18
    • 0009675716 scopus 로고    scopus 로고
    • A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
    • Hofstra RMW, Osinga J, TanSindhunata G, Wu Y, Kamsteeg EJ, et al. (1996) A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nature Genetics 12: 445-447.
    • (1996) Nature Genetics , vol.12 , pp. 445-447
    • Hofstra, R.M.W.1    Osinga, J.2    TanSindhunata, G.3    Wu, Y.4    Kamsteeg, E.J.5
  • 19
    • 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 PA, Chakravarti A, (1996) Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a hirschsprung disease patient. Nature Genetics 14: 341-344.
    • (1996) Nature Genetics , vol.14 , pp. 341-344
    • Angrist, M.1    Bolk, S.2    Halushka, M.3    Lapchak, P.A.4    Chakravarti, A.5
  • 20
    • 0029822720 scopus 로고    scopus 로고
    • De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease
    • Ivanchuk SM, Myers SM, Eng C, Mulligan LM, (1996) De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. Human Molecular Genetics 5: 2023-2026.
    • (1996) Human Molecular Genetics , vol.5 , pp. 2023-2026
    • Ivanchuk, S.M.1    Myers, S.M.2    Eng, C.3    Mulligan, L.M.4
  • 21
    • 16144368214 scopus 로고    scopus 로고
    • Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease
    • Salomon R, Attie T, Pelet A, Bidaud C, Eng C, et al. (1996) Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. Nat Genet 14: 345-347.
    • (1996) Nat Genet , vol.14 , pp. 345-347
    • Salomon, R.1    Attie, T.2    Pelet, A.3    Bidaud, C.4    Eng, C.5
  • 23
    • 0032898565 scopus 로고    scopus 로고
    • The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome
    • Southard-Smith EM, Angrist M, Ellison JS, Agarwala R, Baxevanis AD, et al. (1999) The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. Genome Res 9: 215-225.
    • (1999) Genome Res , vol.9 , pp. 215-225
    • Southard-Smith, E.M.1    Angrist, M.2    Ellison, J.S.3    Agarwala, R.4    Baxevanis, A.D.5
  • 25
    • 0019922754 scopus 로고
    • Hirschsprung's disease in a kindred: a possible clue to the genetics of the disease
    • Cohen IT, Gadd MA, (1982) Hirschsprung's disease in a kindred: a possible clue to the genetics of the disease. J Pediatr Surg 17: 632-634.
    • (1982) J Pediatr Surg , vol.17 , pp. 632-634
    • Cohen, I.T.1    Gadd, M.A.2
  • 26
    • 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, (1994) Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature 367: 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
  • 27
  • 28
    • 0031984825 scopus 로고    scopus 로고
    • Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model
    • Southard-Smith EM, Kos L, Pavan WJ, (1998) Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat Genet 18: 60-64.
    • (1998) Nat Genet , vol.18 , pp. 60-64
    • Southard-Smith, E.M.1    Kos, L.2    Pavan, W.J.3
  • 29
    • 0028639196 scopus 로고
    • Targeted and Natural (Piebald-Lethal) Mutations of Endothelin-B Receptor Gene Produce Megacolon Associated with Spotted Coat Color in Mice
    • Hosoda K, Hammer RE, Richardson JA, Baynash AG, Cheung JC, et al. (1994) Targeted and Natural (Piebald-Lethal) Mutations of Endothelin-B Receptor Gene Produce Megacolon Associated with Spotted Coat Color in Mice. Cell 79: 1267-1276.
    • (1994) Cell , vol.79 , pp. 1267-1276
    • Hosoda, K.1    Hammer, R.E.2    Richardson, J.A.3    Baynash, A.G.4    Cheung, J.C.5
  • 30
    • 0038044725 scopus 로고    scopus 로고
    • The endothelin receptor-B is required for the migration of neural crest-derived melanocyte and enteric neuron precursors
    • Lee HO, Levorse JM, Shin MK, (2003) The endothelin receptor-B is required for the migration of neural crest-derived melanocyte and enteric neuron precursors. Developmental Biology 259: 162-175.
    • (2003) Developmental Biology , vol.259 , pp. 162-175
    • Lee, H.O.1    Levorse, J.M.2    Shin, M.K.3
  • 31
    • 0028609612 scopus 로고
    • Interaction of Endothelin-3 with Endothelin-B Receptor Is Essential for Development of Epidermal Melanocytes and Enteric Neurons
    • Baynash AG, Hosoda K, Giaid A, Richardson JA, Emoto N, et al. (1994) Interaction of Endothelin-3 with Endothelin-B Receptor Is Essential for Development of Epidermal Melanocytes and Enteric Neurons. Cell 79: 1277-1285.
    • (1994) Cell , vol.79 , pp. 1277-1285
    • Baynash, A.G.1    Hosoda, K.2    Giaid, A.3    Richardson, J.A.4    Emoto, N.5
  • 33
    • 0029664349 scopus 로고    scopus 로고
    • Lack of endothelin ETB receptor binding and function in the rat with a mutant ETB receptor gene
    • Karaki H, Mitsui-Saito M, Takimoto M, Oda K, Okada T, et al. (1996) Lack of endothelin ETB receptor binding and function in the rat with a mutant ETB receptor gene. Biochem Biophys Res Commun 222: 139-143.
    • (1996) Biochem Biophys Res Commun , vol.222 , pp. 139-143
    • Karaki, H.1    Mitsui-Saito, M.2    Takimoto, M.3    Oda, K.4    Okada, T.5
  • 35
    • 0032129239 scopus 로고    scopus 로고
    • GFR alpha1-deficient mice have deficits in the enteric nervous system and kidneys
    • Enomoto H, Araki T, Jackman A, Heuckeroth RO, Snider WD, et al. (1998) GFR alpha1-deficient mice have deficits in the enteric nervous system and kidneys. Neuron 21: 317-324.
    • (1998) Neuron , vol.21 , pp. 317-324
    • Enomoto, H.1    Araki, T.2    Jackman, A.3    Heuckeroth, R.O.4    Snider, W.D.5
  • 36
    • 0036134088 scopus 로고    scopus 로고
    • A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene
    • Matsushima Y, Shinkai Y, Kobayashi Y, Sakamoto M, Kunieda T, et al. (2002) A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene. Mammalian Genome 13: 30-35.
    • (2002) Mammalian Genome , vol.13 , pp. 30-35
    • Matsushima, Y.1    Shinkai, Y.2    Kobayashi, Y.3    Sakamoto, M.4    Kunieda, T.5
  • 40
    • 12744279752 scopus 로고    scopus 로고
    • Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder
    • Brooks AS, Oostra BA, Hofstra RM, (2005) Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder. Clin Genet 67: 6-14.
    • (2005) Clin Genet , vol.67 , pp. 6-14
    • Brooks, A.S.1    Oostra, B.A.2    Hofstra, R.M.3
  • 41
    • 0036655691 scopus 로고    scopus 로고
    • Enteric nervous system: development and developmental disturbances-part 2
    • Newgreen D, Young HM, (2002) Enteric nervous system: development and developmental disturbances-part 2. Pediatr Dev Pathol 5: 329-349.
    • (2002) Pediatr Dev Pathol , vol.5 , pp. 329-349
    • Newgreen, D.1    Young, H.M.2
  • 42
    • 41949130419 scopus 로고    scopus 로고
    • Functional development of the enteric nervous system-from migration to motility
    • Young HM, (2008) Functional development of the enteric nervous system-from migration to motility. Neurogastroenterol Motil 20 (Suppl 1): 20-31.
    • (2008) Neurogastroenterol Motil , vol.20 , Issue.SUPPL. 1 , pp. 20-31
    • Young, H.M.1
  • 44
    • 33746027408 scopus 로고    scopus 로고
    • Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development
    • Stanchina L, Baral V, Robert F, Pingault V, Lemort N, et al. (2006) Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development. Developmental Biology 295: 232-249.
    • (2006) Developmental Biology , vol.295 , pp. 232-249
    • Stanchina, L.1    Baral, V.2    Robert, F.3    Pingault, V.4    Lemort, N.5
  • 45
    • 0033518175 scopus 로고    scopus 로고
    • The temporal requirement for endothelin receptor-B signalling during neural crest development
    • Shin MK, Levorse JM, Ingram RS, Tilghman SM, (1999) The temporal requirement for endothelin receptor-B signalling during neural crest development. Nature 402: 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
  • 46
    • 0031828292 scopus 로고    scopus 로고
    • A missense mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome: an equine version of Hirschsprung disease
    • Metallinos DL, Bowling AT, Rine J, (1998) A missense mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome: an equine version of Hirschsprung disease. Mammalian Genome 9: 426-431.
    • (1998) Mammalian Genome , vol.9 , pp. 426-431
    • Metallinos, D.L.1    Bowling, A.T.2    Rine, J.3
  • 47
    • 0031831546 scopus 로고    scopus 로고
    • A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease (HSCR)
    • Yang GC, Croaker D, Zhang AL, Manglick P, Cartmill T, et al. (1998) A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease (HSCR). Human Molecular Genetics 7: 1047-1052.
    • (1998) Human Molecular Genetics , vol.7 , pp. 1047-1052
    • Yang, G.C.1    Croaker, D.2    Zhang, A.L.3    Manglick, P.4    Cartmill, T.5
  • 49
    • 0035038927 scopus 로고    scopus 로고
    • Sensorineural deafness and pigmentation genes: melanocytes and the Mitf transcriptional network
    • Price ER, Fisher DE, (2001) Sensorineural deafness and pigmentation genes: melanocytes and the Mitf transcriptional network. Neuron 30: 15-18.
    • (2001) Neuron , vol.30 , pp. 15-18
    • Price, E.R.1    Fisher, D.E.2
  • 50
    • 0032863480 scopus 로고    scopus 로고
    • Immunological identification of an inward rectifier K+ channel (Kir4.1) in the intermediate cell (melanocyte) of the cochlear stria vascularis of gerbils and rats
    • Ando M, Takeuchi S, (1999) Immunological identification of an inward rectifier K+ channel (Kir4.1) in the intermediate cell (melanocyte) of the cochlear stria vascularis of gerbils and rats. Cell Tissue Res 298: 179-183.
    • (1999) Cell Tissue Res , vol.298 , pp. 179-183
    • Ando, M.1    Takeuchi, S.2
  • 51
    • 43049141138 scopus 로고    scopus 로고
    • Diminished Ret expression compromises neuronal survival in the colon and causes intestinal aganglionosis in mice
    • Uesaka T, Nagashimada M, Yonemura S, Enomoto H, (2008) Diminished Ret expression compromises neuronal survival in the colon and causes intestinal aganglionosis in mice. J Clin Invest 118: 1890-1898.
    • (2008) J Clin Invest , vol.118 , pp. 1890-1898
    • Uesaka, T.1    Nagashimada, M.2    Yonemura, S.3    Enomoto, H.4


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