메뉴 건너뛰기




Volumn 17, Issue 45, 2011, Pages 4937-4944

Genetic interactions and modifier genes in Hirschsprung's disease

Author keywords

Aganglionoses; Enteric nervous system; Hirschsprung's disease; Modifier genes; Neural crest

Indexed keywords

ENDOTHELIN RECEPTOR; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; SMAD1 PROTEIN; TRANSCRIPTION FACTOR SOX10;

EID: 83155177118     PISSN: 10079327     EISSN: None     Source Type: Journal    
DOI: 10.3748/wjg.v17.i45.4937     Document Type: Editorial
Times cited : (52)

References (98)
  • 2
    • 84934441407 scopus 로고    scopus 로고
    • Neural crest and the development of the enteric nervous system
    • Anderson RB, Newgreen DF, Young HM. Neural crest and the development of the enteric nervous system. Adv Exp Med Biol 2006; 589: 181-196
    • (2006) Adv Exp Med Biol , vol.589 , pp. 181-196
    • Anderson, R.B.1    Newgreen, D.F.2    Young, H.M.3
  • 3
    • 0034163569 scopus 로고    scopus 로고
    • Sacral neural crest cells colonise aganglionic hindgut in vivo but fail to compensate for lack of enteric ganglia
    • Burns AJ, Champeval D, Le Douarin NM. Sacral neural crest cells colonise aganglionic hindgut in vivo but fail to compensate for lack of enteric ganglia. Dev Biol 2000; 219: 30-43
    • (2000) Dev Biol , vol.219 , pp. 30-43
    • Burns, A.J.1    Champeval, D.2    Le Douarin, N.M.3
  • 4
    • 0001682881 scopus 로고
    • The origin of intrinsic ganglia of trunk viscera from vagal neural crest in the chick embryo
    • Yntema CL, Hammond WS. The origin of intrinsic ganglia of trunk viscera from vagal neural crest in the chick embryo. J Comp Neurol 1954; 101: 515-541
    • (1954) J Comp Neurol , vol.101 , pp. 515-541
    • Yntema, C.L.1    Hammond, W.S.2
  • 5
    • 0035165165 scopus 로고    scopus 로고
    • Enteric neural crest-derived cells: Origin, identification, migration, and differentiation
    • Young HM, Newgreen D. Enteric neural crest-derived cells: origin, identification, migration, and differentiation. Anat Rec 2001; 262: 1-15
    • (2001) Anat Rec , vol.262 , pp. 1-15
    • Young, H.M.1    Newgreen, D.2
  • 6
    • 15044359569 scopus 로고    scopus 로고
    • Development of the enteric nervous system, smooth muscle and interstitial cells of Cajal in the human gastrointestinal tract
    • Wallace AS, Burns AJ. Development of the enteric nervous system, smooth muscle and interstitial cells of Cajal in the human gastrointestinal tract. Cell Tissue Res 2005; 319: 367-382
    • (2005) Cell Tissue Res , vol.319 , pp. 367-382
    • Wallace, A.S.1    Burns, A.J.2
  • 7
    • 0035162110 scopus 로고    scopus 로고
    • Enteric nervous system development: Analysis of the selective developmental potentialities of vagal and sacral neural crest cells using quail-chick chimeras
    • Burns AJ, Le Douarin NM. Enteric nervous system development: analysis of the selective developmental potentialities of vagal and sacral neural crest cells using quail-chick chimeras. Anat Rec 2001; 262: 16-28
    • (2001) Anat Rec , vol.262 , pp. 16-28
    • Burns, A.J.1    le Douarin, N.M.2
  • 8
    • 27944491601 scopus 로고    scopus 로고
    • Phenotypes of neural-crest-derived cells in vagal and sacral pathways
    • Anderson RB, Stewart AL, Young HM. Phenotypes of neural-crest-derived cells in vagal and sacral pathways. Cell Tissue Res 2006; 323: 11-25
    • (2006) Cell Tissue Res , vol.323 , pp. 11-25
    • Anderson, R.B.1    Stewart, A.L.2    Young, H.M.3
  • 10
    • 67650710799 scopus 로고    scopus 로고
    • Genetic basis of Hirschsprung's disease
    • Tam PK, Garcia-Barceló M. Genetic basis of Hirschsprung's disease. Pediatr Surg Int 2009; 25: 543-558
    • (2009) Pediatr Surg Int , vol.25 , pp. 543-558
    • Tam, P.K.1    Garcia-Barceló, M.2
  • 11
    • 0034764984 scopus 로고    scopus 로고
    • Hirschsprung disease, associated syndromes, and genetics: A review
    • Amiel J, Lyonnet S. Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet 2001; 38: 729-739
    • (2001) J Med Genet , vol.38 , pp. 729-739
    • Amiel, J.1    Lyonnet, S.2
  • 12
    • 78449267019 scopus 로고    scopus 로고
    • A systematic review and meta-analysis of Hirschsprung's disease presenting after childhood
    • Doodnath R, Puri P. A systematic review and meta-analysis of Hirschsprung's disease presenting after childhood. Pediatr Surg Int 2010; 26: 1107-1110
    • (2010) Pediatr Surg Int , vol.26 , pp. 1107-1110
    • Doodnath, R.1    Puri, P.2
  • 14
    • 63649163217 scopus 로고    scopus 로고
    • Transanal endorectal pull-through in children with Hirschsprung's disease--technical refinements and comparison of results with the Duhamel procedure
    • Tannuri AC, Tannuri U, Romão RL. Transanal endorectal pull-through in children with Hirschsprung's disease--technical refinements and comparison of results with the Duhamel procedure. J Pediatr Surg 2009; 44: 767-772
    • (2009) J Pediatr Surg , vol.44 , pp. 767-772
    • Tannuri, A.C.1    Tannuri, U.2    Romão, R.L.3
  • 15
    • 0036138865 scopus 로고    scopus 로고
    • The pathogenesis of Hirschsprung disease
    • Belknap WM. The pathogenesis of Hirschsprung disease. Curr Opin Gastroenterol 2002; 18: 74-81
    • (2002) Curr Opin Gastroenterol , vol.18 , pp. 74-81
    • Belknap, W.M.1
  • 16
    • 0142026110 scopus 로고    scopus 로고
    • Genetic basis of Hirschsprung disease: Implications in clinical practice
    • Gariepy CE. Genetic basis of Hirschsprung disease: implications in clinical practice. Mol Genet Metab 2003; 80: 66-73
    • (2003) Mol Genet Metab , vol.80 , pp. 66-73
    • Gariepy, C.E.1
  • 17
    • 0033739538 scopus 로고    scopus 로고
    • Genetics of Hirschsprung disease
    • Parisi MA, Kapur RP. Genetics of Hirschsprung disease. Curr Opin Pediatr 2000; 12: 610-617
    • (2000) Curr Opin Pediatr , vol.12 , pp. 610-617
    • Parisi, M.A.1    Kapur, R.P.2
  • 18
    • 0028979805 scopus 로고
    • The gene coding for glial cell line derived neurotrophic factor (GDNF) maps to chromosome 5p12-p13.1
    • Schindelhauer D, Schuffenhauer S, Gasser T, Steinkasserer A, Meitinger T. The gene coding for glial cell line derived neurotrophic factor (GDNF) maps to chromosome 5p12-p13.1. Genomics 1995; 28: 605-607
    • (1995) Genomics , vol.28 , pp. 605-607
    • Schindelhauer, D.1    Schuffenhauer, S.2    Gasser, T.3    Steinkasserer, A.4    Meitinger, T.5
  • 20
    • 4444372997 scopus 로고    scopus 로고
    • Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promotercomregion and exon 2
    • Burzynski GM, Nolte IM, Osinga J, Ceccherini I, Twigt B, Maas S, Brooks A, Verheij J, Plaza Menacho I, Buys CH, Hofstra RM. Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promotercomregion and exon 2. Eur J Hum Genet 2004; 12: 604-612
    • (2004) Eur J Hum Genet , vol.12 , pp. 604-612
    • Burzynski, G.M.1    Nolte, I.M.2    Osinga, J.3    Ceccherini, I.4    Twigt, B.5    Maas, S.6    Brooks, A.7    Verheij, J.8    Plaza, M.I.9    Buys, C.H.10    Hofstra, R.M.11
  • 22
    • 33846912037 scopus 로고    scopus 로고
    • A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease
    • Griseri P, Lantieri F, Puppo F, Bachetti T, Di Duca M, Ravazzolo R, Ceccherini I. A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease. Hum Mutat 2007; 28: 168-176
    • (2007) Hum Mutat , vol.28 , pp. 168-176
    • Griseri, P.1    Lantieri, F.2    Puppo, F.3    Bachetti, T.4    di Duca, M.5    Ravazzolo, R.6    Ceccherini, I.7
  • 24
    • 0036832278 scopus 로고    scopus 로고
    • Requirement of signalling by receptor tyrosine kinase RET for the directed migration of enteric nervous system progenitor cells during mammalian embryogenesis
    • Natarajan D, Marcos-Gutierrez C, Pachnis V, de Graaff E. Requirement of signalling by receptor tyrosine kinase RET for the directed migration of enteric nervous system progenitor cells during mammalian embryogenesis. Development 2002; 129: 5151-5160
    • (2002) Development , vol.129 , pp. 5151-5160
    • Natarajan, D.1    Marcos-Gutierrez, C.2    Pachnis, V.3    de Graaff, E.4
  • 25
    • 17144449393 scopus 로고    scopus 로고
    • Glial cell line-derived neurotrophic factor receptor alpha1 availability regulates glial cell line-derived neurotrophic factor signaling: Evidence from mice carrying one or two mutated alleles
    • Tomac AC, Grinberg A, Huang SP, Nosrat C, Wang Y, Borlongan C, Lin SZ, Chiang YH, Olson L, Westphal H, Hoffer BJ. Glial cell line-derived neurotrophic factor receptor alpha1 availability regulates glial cell line-derived neurotrophic factor signaling: evidence from mice carrying one or two mutated alleles. Neuroscience 2000; 95: 1011-1023
    • (2000) Neuroscience , vol.95 , pp. 1011-1023
    • Tomac, A.C.1    Grinberg, A.2    Huang, S.P.3    Nosrat, C.4    Wang, Y.5    Borlongan, C.6    Lin, S.Z.7    Chiang, Y.H.8    Olson, L.9    Westphal, H.10    Hoffer, B.J.11
  • 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. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature 1994; 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
  • 28
    • 0038074091 scopus 로고    scopus 로고
    • GDNF availability determines enteric neuron number by controlling precursor proliferation
    • Gianino S, Grider JR, Cresswell J, Enomoto H, Heuckeroth RO. GDNF availability determines enteric neuron number by controlling precursor proliferation. Development 2003; 130: 2187-2198
    • (2003) Development , vol.130 , pp. 2187-2198
    • Gianino, S.1    Grider, J.R.2    Cresswell, J.3    Enomoto, H.4    Heuckeroth, R.O.5
  • 29
    • 0025164766 scopus 로고
    • Characterization of ret proto-oncogene mRNAs encoding two isoforms of the protein product in a human neuroblastoma cell line
    • Tahira T, Ishizaka Y, Itoh F, Sugimura T, Nagao M. Characterization of ret proto-oncogene mRNAs encoding two isoforms of the protein product in a human neuroblastoma cell line. Oncogene 1990; 5: 97-102
    • (1990) Oncogene , vol.5 , pp. 97-102
    • Tahira, T.1    Ishizaka, Y.2    Itoh, F.3    Sugimura, T.4    Nagao, M.5
  • 32
    • 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. Diminished Ret expression compromises neuronal survival in the colon and causes intestinal aganglionosis in mice. J Clin Invest 2008; 118: 1890-1898
    • (2008) J Clin Invest , vol.118 , pp. 1890-1898
    • Uesaka, T.1    Nagashimada, M.2    Yonemura, S.3    Enomoto, H.4
  • 33
    • 33845873043 scopus 로고    scopus 로고
    • Targeted mutation of serine 697 in the Ret tyrosine kinase causes migration defect of enteric neural crest cells
    • Asai N, Fukuda T, Wu Z, Enomoto A, Pachnis V, Takahashi M, Costantini F. Targeted mutation of serine 697 in the Ret tyrosine kinase causes migration defect of enteric neural crest cells. Development 2006; 133: 4507-4516
    • (2006) Development , vol.133 , pp. 4507-4516
    • Asai, N.1    Fukuda, T.2    Wu, Z.3    Enomoto, A.4    Pachnis, V.5    Takahashi, M.6    Costantini, F.7
  • 34
    • 77949673934 scopus 로고    scopus 로고
    • Organotypic specificity of key RET adaptor-docking sites in the pathogenesis of neurocristopathies and renal malformations in mice
    • Jain S, Knoten A, Hoshi M, Wang H, Vohra B, Heuckeroth RO, Milbrandt J. Organotypic specificity of key RET adaptor-docking sites in the pathogenesis of neurocristopathies and renal malformations in mice. J Clin Invest 2010; 120: 778-790
    • (2010) J Clin Invest , vol.120 , pp. 778-790
    • Jain, S.1    Knoten, A.2    Hoshi, M.3    Wang, H.4    Vohra, B.5    Heuckeroth, R.O.6    Milbrandt, J.7
  • 36
    • 0032079069 scopus 로고    scopus 로고
    • Theexpression pattern of endothelin 3 in the avian embryo
    • Nataf V, Amemiya A, Yanagisawa M, Le Douarin NM. Theexpression pattern of endothelin 3 in the avian embryo. Mech Dev 1998; 73: 217-220
    • (1998) Mech Dev , vol.73 , pp. 217-220
    • Nataf, V.1    Amemiya, A.2    Yanagisawa, M.3    le Douarin, N.M.4
  • 37
    • 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, Hammer RE, Yanagisawa M. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 1994; 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    Hammer, R.E.6    Yanagisawa, M.7
  • 38
    • 0027992642 scopus 로고
    • ECE-1: A membrane-bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1
    • Xu D, Emoto N, Giaid A, Slaughter C, Kaw S, deWit D, Yanagisawa M. ECE-1: a membrane-bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1. Cell 1994; 78: 473-485
    • (1994) Cell , vol.78 , pp. 473-485
    • Xu, D.1    Emoto, N.2    Giaid, A.3    Slaughter, C.4    Kaw, S.5    Dewit, D.6    Yanagisawa, M.7
  • 39
    • 0029818761 scopus 로고    scopus 로고
    • Endothelin-B receptor is expressed by neural crest cells in the avian embryo
    • Nataf V, Lecoin L, Eichmann A, Le Douarin NM. Endothelin-B receptor is expressed by neural crest cells in the avian embryo. Proc Natl Acad Sci USA 1996; 93: 9645-9650
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 9645-9650
    • Nataf, V.1    Lecoin, L.2    Eichmann, A.3    le Douarin, N.M.4
  • 40
    • 0033366516 scopus 로고    scopus 로고
    • A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction
    • Hofstra RM, Valdenaire O, Arch E, Osinga J, Kroes H, Löffler BM, Hamosh A, Meijers C, Buys CH. A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. Am J Hum Genet 1999; 64: 304-308
    • (1999) Am J Hum Genet , vol.64 , pp. 304-308
    • Hofstra, R.M.1    Valdenaire, O.2    Arch, E.3    Osinga, J.4    Kroes, H.5    Löffler, B.M.6    Hamosh, A.7    Meijers, C.8    Buys, C.H.9
  • 41
    • 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, Giaid A, Yanagisawa M. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 1994; 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    Giaid, A.6    Yanagisawa, M.7
  • 42
    • 0347194147 scopus 로고    scopus 로고
    • Enteric nervous system progenitors are coordinately controlled by the G protein-coupled receptor EDNRB and the receptor tyrosine kinase RET
    • Barlow A, de Graaff E, Pachnis V. Enteric nervous system progenitors are coordinately controlled by the G protein-coupled receptor EDNRB and the receptor tyrosine kinase RET. Neuron 2003; 40: 905-916
    • (2003) Neuron , vol.40 , pp. 905-916
    • Barlow, A.1    de Graaff, E.2    Pachnis, V.3
  • 43
    • 70350022779 scopus 로고    scopus 로고
    • Age-dependent changes in the gut environment restrict the invasion of the hindgut by enteric neural progenitors
    • Druckenbrod NR, Epstein ML. Age-dependent changes in the gut environment restrict the invasion of the hindgut by enteric neural progenitors. Development 2009; 136: 3195-3203
    • (2009) Development , vol.136 , pp. 3195-3203
    • Druckenbrod, N.R.1    Epstein, M.L.2
  • 45
    • 5544326532 scopus 로고    scopus 로고
    • Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease
    • Cantrell VA, Owens SE, Chandler RL, Airey DC, Bradley KM, Smith JR, Southard-Smith EM. Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease. Hum Mol Genet 2004; 13: 2289-2301
    • (2004) Hum Mol Genet , vol.13 , pp. 2289-2301
    • Cantrell, V.A.1    Owens, S.E.2    Chandler, R.L.3    Airey, D.C.4    Bradley, K.M.5    Smith, J.R.6    Southard-Smith, E.M.7
  • 50
    • 0031984825 scopus 로고    scopus 로고
    • Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model
    • Southard-Smith EM, Kos L, Pavan WJ. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat Genet 1998; 18: 60-64
    • (1998) Nat Genet , vol.18 , pp. 60-64
    • Southard-Smith, E.M.1    Kos, L.2    Pavan, W.J.3
  • 51
    • 0032727413 scopus 로고    scopus 로고
    • Early death of neural crest cells is responsible for total enteric aganglionosis in Sox10(Dom)/Sox10(Dom) mouse embryos
    • Kapur RP. Early death of neural crest cells is responsible for total enteric aganglionosis in Sox10(Dom)/Sox10(Dom) mouse embryos. Pediatr Dev Pathol 1999; 2: 559-569
    • (1999) Pediatr Dev Pathol , vol.2 , pp. 559-569
    • Kapur, R.P.1
  • 53
    • 9644277156 scopus 로고    scopus 로고
    • Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect
    • Maka M, Stolt CC, Wegner M. Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect. Dev Biol 2005; 277: 155-169
    • (2005) Dev Biol , vol.277 , pp. 155-169
    • Maka, M.1    Stolt, C.C.2    Wegner, M.3
  • 54
    • 0033791525 scopus 로고    scopus 로고
    • Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret
    • Lang D, Chen F, Milewski R, Li J, Lu MM, Epstein JA. Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret. J Clin Invest 2000; 106: 963-971
    • (2000) J Clin Invest , vol.106 , pp. 963-971
    • Lang, D.1    Chen, F.2    Milewski, R.3    Li, J.4    Lu, M.M.5    Epstein, J.A.6
  • 55
    • 0037447462 scopus 로고    scopus 로고
    • Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer
    • Lang D, Epstein JA. Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. Hum Mol Genet 2003; 12: 937-945
    • (2003) Hum Mol Genet , vol.12 , pp. 937-945
    • Lang, D.1    Epstein, J.A.2
  • 56
    • 3042766528 scopus 로고    scopus 로고
    • Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest-derived enteric neuron precursors
    • Zhu L, Lee HO, Jordan CS, Cantrell VA, Southard-Smith EM, Shin MK. Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest-derived enteric neuron precursors. Nat Genet 2004; 36: 732-737
    • (2004) Nat Genet , vol.36 , pp. 732-737
    • Zhu, L.1    Lee, H.O.2    Jordan, C.S.3    Cantrell, V.A.4    Southard-Smith, E.M.5    Shin, M.K.6
  • 57
    • 0032822663 scopus 로고    scopus 로고
    • Expression of Ret-, p75(NTR)-, Phox2a-, Phox2b-, and tyrosine hydroxylase-immunoreactivity by undifferentiated neural crest-derived cells and different classes of enteric neurons in the embryonic mouse gut
    • Young HM, Ciampoli D, Hsuan J, Canty AJ. Expression of Ret-, p75(NTR)-, Phox2a-, Phox2b-, and tyrosine hydroxylase-immunoreactivity by undifferentiated neural crest-derived cells and different classes of enteric neurons in the embryonic mouse gut. Dev Dyn 1999; 216: 137-152
    • (1999) Dev Dyn , vol.216 , pp. 137-152
    • Young, H.M.1    Ciampoli, D.2    Hsuan, J.3    Canty, A.J.4
  • 58
    • 0345385015 scopus 로고    scopus 로고
    • Association study of PHOX2B as a candidate gene for Hirschsprung's disease
    • Garcia-Barceló M, Sham MH, Lui VC, Chen BL, Ott J, Tam PK. Association study of PHOX2B as a candidate gene for Hirschsprung's disease. Gut 2003; 52: 563-567
    • (2003) Gut , vol.52 , pp. 563-567
    • Garcia-Barceló, M.1    Sham, M.H.2    Lui, V.C.3    Chen, B.L.4    Ott, J.5    Tam, P.K.6
  • 60
    • 0033609337 scopus 로고    scopus 로고
    • The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives
    • Pattyn A, Morin X, Cremer H, Goridis C, Brunet JF. The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives. Nature 1999; 399: 366-370
    • (1999) Nature , vol.399 , pp. 366-370
    • Pattyn, A.1    Morin, X.2    Cremer, H.3    Goridis, C.4    Brunet, J.F.5
  • 63
    • 0037322308 scopus 로고    scopus 로고
    • Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome
    • Van de Putte T, Maruhashi M, Francis A, Nelles L, Kondoh H, Huylebroeck D, Higashi Y. Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome. Am J Hum Genet 2003; 72: 465-470
    • (2003) Am J Hum Genet , vol.72 , pp. 465-470
    • van de Putte, T.1    Maruhashi, M.2    Francis, A.3    Nelles, L.4    Kondoh, H.5    Huylebroeck, D.6    Higashi, Y.7
  • 64
    • 0036788576 scopus 로고    scopus 로고
    • Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease
    • Carrasquillo MM, McCallion AS, Puffenberger EG, Kashuk CS, Nouri N, Chakravarti A. Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet 2002; 32: 237-244
    • (2002) Nat Genet , vol.32 , pp. 237-244
    • Carrasquillo, M.M.1    McCallion, A.S.2    Puffenberger, E.G.3    Kashuk, C.S.4    Nouri, N.5    Chakravarti, A.6
  • 65
    • 0037452581 scopus 로고    scopus 로고
    • Phenotype variation in two-locus mouse models of Hirschsprung disease: Tissue-specific interaction between Ret and Ednrb
    • McCallion AS, Stames E, Conlon RA, Chakravarti A. Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb. Proc Natl Acad Sci USA 2003; 100: 1826-1831
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 1826-1831
    • McCallion, A.S.1    Stames, E.2    Conlon, R.A.3    Chakravarti, A.4
  • 67
    • 0037447462 scopus 로고    scopus 로고
    • Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer
    • Lang D, Epstein JA. Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. Hum Mol Genet 2003; 12: 937-945
    • (2003) Hum Mol Genet , vol.12 , pp. 937-945
    • Lang, D.1    Epstein, J.A.2
  • 69
    • 77952304708 scopus 로고    scopus 로고
    • Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development
    • Stanchina L, Van de Putte T, Goossens M, Huylebroeck D, Bondurand N. Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development. Dev Biol 2010; 341: 416-428
    • (2010) Dev Biol , vol.341 , pp. 416-428
    • Stanchina, L.1    Van de Putte, T.2    Goossens, M.3    Huylebroeck, D.4    Bondurand, N.5
  • 77
    • 0036312041 scopus 로고    scopus 로고
    • Sox10 is an active nucleocytoplasmic shuttle protein, and shuttling is crucial for Sox10-mediated transactivation
    • Rehberg S, Lischka P, Glaser G, Stamminger T, Wegner M, Rosorius O. Sox10 is an active nucleocytoplasmic shuttle protein, and shuttling is crucial for Sox10-mediated transactivation. Mol Cell Biol 2002; 22: 5826-5834
    • (2002) Mol Cell Biol , vol.22 , pp. 5826-5834
    • Rehberg, S.1    Lischka, P.2    Glaser, G.3    Stamminger, T.4    Wegner, M.5    Rosorius, O.6
  • 78
    • 3042705838 scopus 로고    scopus 로고
    • Transcription factors Sox8 and Sox10 perform non-equivalent roles during oligodendrocyte development despite functional redundancy
    • Stolt CC, Lommes P, Friedrich RP, Wegner M. Transcription factors Sox8 and Sox10 perform non-equivalent roles during oligodendrocyte development despite functional redundancy. Development 2004; 131: 2349-2358
    • (2004) Development , vol.131 , pp. 2349-2358
    • Stolt, C.C.1    Lommes, P.2    Friedrich, R.P.3    Wegner, M.4
  • 79
    • 0041845263 scopus 로고    scopus 로고
    • SOX8 is expressed during testis differentiation in mice and synergizes with SF1 to activate the Amh promoter in vitro
    • Schepers G, Wilson M, Wilhelm D, Koopman P. SOX8 is expressed during testis differentiation in mice and synergizes with SF1 to activate the Amh promoter in vitro. J Biol Chem 2003; 278: 28101-28108
    • (2003) J Biol Chem , vol.278 , pp. 28101-28108
    • Schepers, G.1    Wilson, M.2    Wilhelm, D.3    Koopman, P.4
  • 80
    • 0041524099 scopus 로고    scopus 로고
    • Sox8 is a specific marker for muscle satellite cells and inhibits myogenesis
    • Schmidt K, Glaser G, Wernig A, Wegner M, Rosorius O. Sox8 is a specific marker for muscle satellite cells and inhibits myogenesis. J Biol Chem 2003; 278: 29769-29775
    • (2003) J Biol Chem , vol.278 , pp. 29769-29775
    • Schmidt, K.1    Glaser, G.2    Wernig, A.3    Wegner, M.4    Rosorius, O.5
  • 81
    • 80053922586 scopus 로고    scopus 로고
    • L1cam acts as a modifier gene for members of the endothelin signalling pathway during enteric nervous system development
    • Wallace AS, Tan MX, Schachner M, Anderson RB. L1cam acts as a modifier gene for members of the endothelin signalling pathway during enteric nervous system development. Neurogastroenterol Motil 2011; 23: e510-e522
    • (2011) Neurogastroenterol Motil , vol.23
    • Wallace, A.S.1    Tan, M.X.2    Schachner, M.3    Anderson, R.B.4
  • 85
    • 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. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat Genet 1996; 14: 341-344
    • (1996) Nat Genet , vol.14 , pp. 341-344
    • Angrist, M.1    Bolk, S.2    Halushka, M.3    Lapchak, P.A.4    Chakravarti, A.5
  • 86
    • 0030661735 scopus 로고    scopus 로고
    • Mutations in Hirschsprung disease: When does a mutation contribute to the phenotype
    • Hofstra RM, Osinga J, Buys CH. Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype. Eur J Hum Genet 1997; 5: 180-185
    • (1997) Eur J Hum Genet , vol.5 , pp. 180-185
    • Hofstra, R.M.1    Osinga, J.2    Buys, C.H.3
  • 87
    • 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. De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. Hum Mol Genet 1996; 5: 2023-2026
    • (1996) Hum Mol Genet , vol.5 , pp. 2023-2026
    • Ivanchuk, S.M.1    Myers, S.M.2    Eng, C.3    Mulligan, L.M.4
  • 90
    • 0030029691 scopus 로고    scopus 로고
    • Endothelin receptor-mediated signaling in hirschsprung disease
    • Chakravarti A. Endothelin receptor-mediated signaling in hirschsprung disease. Hum Mol Genet 1996; 5: 303-307
    • (1996) Hum Mol Genet , vol.5 , pp. 303-307
    • Chakravarti, A.1
  • 92
    • 0031017089 scopus 로고    scopus 로고
    • Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease
    • Pingault V, Puliti A, Préhu MO, Samadi A, Bondurand N, Goossens M. Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease. Genomics 1997; 39: 86-89
    • (1997) Genomics , vol.39 , pp. 86-89
    • Pingault, V.1    Puliti, A.2    Préhu, M.O.3    Samadi, A.4    Bondurand, N.5    Goossens, M.6
  • 93
    • 0028215714 scopus 로고
    • Phenotypic variability of del(2) (q22-q23): Report of a case with a review of the literature
    • Lurie IW, Supovitz KR, Rosenblum-Vos LS, Wulfsberg EA. Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature. Genet Couns 1994; 5: 11-14
    • (1994) Genet Couns , vol.5 , pp. 11-14
    • Lurie, I.W.1    Supovitz, K.R.2    Rosenblum-Vos, L.S.3    Wulfsberg, E.A.4
  • 94
    • 0031853185 scopus 로고    scopus 로고
    • Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: Delineation of a new syndrome and identification of a locus at chromosome 2q22-q23
    • Mowat DR, Croaker GD, Cass DT, Kerr BA, Chaitow J, Adès LC, Chia NL, Wilson MJ. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. J Med Genet 1998; 35: 617-623
    • (1998) J Med Genet , vol.35 , pp. 617-623
    • Mowat, D.R.1    Croaker, G.D.2    Cass, D.T.3    Kerr, B.A.4    Chaitow, J.5    Adès, L.C.6    Chia, N.L.7    Wilson, M.J.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.