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Volumn 295, Issue 10, 2012, Pages 1628-1638

Advances in Molecular Genetics of Hirschsprung's Disease

Author keywords

Genetics; Hirschsprung's disease; Pathogenesis; Susceptibility gene

Indexed keywords

DHCR7 PROTEIN; EDN3 PROTEIN; EDNRB PROTEIN; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR CO RECEPTOR ALPHA 1; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR RECEPTOR; KIAA1279 PROTEIN; L1CAM PROTEIN; PHOX2B PROTEIN; PROTEIN; PROTEIN RET; TCF4 PROTEIN; TRANSCRIPTION FACTOR SOX10; UNCLASSIFIED DRUG; ZFHX1B PROTEIN;

EID: 84866173807     PISSN: 19328486     EISSN: 19328494     Source Type: Journal    
DOI: 10.1002/ar.22538     Document Type: Review
Times cited : (25)

References (111)
  • 1
    • 0033023140 scopus 로고    scopus 로고
    • GDNF family neurotrophic factor signaling: four masters, one servant?
    • Airaksinen MS, Titievsky A, Saarma M. 1999. GDNF family neurotrophic factor signaling: four masters, one servant? Mol Cell Neurosci 13: 313-325.
    • (1999) Mol Cell Neurosci , vol.13 , pp. 313-325
    • Airaksinen, M.S.1    Titievsky, A.2    Saarma, M.3
  • 5
    • 34247560106 scopus 로고    scopus 로고
    • Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction
    • Amiel J, Rio M, de Pontual L, Redon R, Malan V, Boddaert N, Plouin P, Carter NP, Lyonnet S, Munnich A, Cooleaux L. 2007. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet 80: 988-993.
    • (2007) Am J Hum Genet , vol.80 , pp. 988-993
    • Amiel, J.1    Rio, M.2    de Pontual, L.3    Redon, R.4    Malan, V.5    Boddaert, N.6    Plouin, P.7    Carter, N.P.8    Lyonnet, S.9    Munnich, A.10    Cooleaux, L.11
  • 6
    • 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. Nat Genet 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
  • 8
    • 1842426410 scopus 로고    scopus 로고
    • Biological effects of the dual phenotypic Janus mutation of ret cosegregating with both multiple endocrine neoplasia type 2 and Hirschsprung's disease
    • Arighi E, Popsueva A, Degl'Innocenti D, Borrello MG, Carniti C, Perälä NM, Pierotti MA, Sariola H. 2004. Biological effects of the dual phenotypic Janus mutation of ret cosegregating with both multiple endocrine neoplasia type 2 and Hirschsprung's disease. Mol Endocrinol 18: 1004-1017.
    • (2004) Mol Endocrinol , vol.18 , pp. 1004-1017
    • Arighi, E.1    Popsueva, A.2    Degl'Innocenti, D.3    Borrello, M.G.4    Carniti, C.5    Perälä, N.M.6    Pierotti, M.A.7    Sariola, H.8
  • 10
    • 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
  • 12
    • 0033964411 scopus 로고    scopus 로고
    • The GDNF family ligands and receptors -implications for neural development
    • Baloh, RH, Enomoto, H, Johnson, EM Jr, Milbrandt, J. 2000. The GDNF family ligands and receptors -implications for neural development. Curr Opin Neurobiol 10: 103-110.
    • (2000) Curr Opin Neurobiol , vol.10 , pp. 103-110
    • Baloh, R.H.1    Enomoto, H.2    Johnson Jr., E.M.3    Milbrandt, J.4
  • 13
    • 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. 2003. Enteric nervous system progenitors are coordinately controlled by the G protein coupled receptor EDNRB and the receptor tyrosine kinase RET. Neuron 40: 905-916.
    • (2003) Neuron , vol.40 , pp. 905-916
    • Barlow, A.1    de Graaff, E.2    Pachnis, V.3
  • 14
    • 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. 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    Hammer, R.E.6    Yanagisawa, M.7
  • 18
    • 0037217482 scopus 로고    scopus 로고
    • A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma
    • Borrego S, Wright FA, Fernandez RM, Williams N, López-Alonso M, Davuluri R, Antiñolo G, Eng C. 2003. A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma. Am J Hum Genet 72: 88-100.
    • (2003) Am J Hum Genet , vol.72 , pp. 88-100
    • Borrego, S.1    Wright, F.A.2    Fernandez, R.M.3    Williams, N.4    López-Alonso, M.5    Davuluri, R.6    Antiñolo, G.7    Eng, C.8
  • 22
    • 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. 2002. Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet 32: 237-344.
    • (2002) Nat Genet , vol.32 , pp. 237-344
    • Carrasquillo, M.M.1    McCallion, A.S.2    Puffenberger, E.G.3    Kashuk, C.S.4    Nouri, N.5    Chakravarti, A.6
  • 23
    • 0014439351 scopus 로고
    • Genetics of common disorders
    • Carter CO. 1969. Genetics of common disorders. Br Med Bull 25: 52-57.
    • (1969) Br Med Bull , vol.25 , pp. 52-57
    • Carter, C.O.1
  • 25
    • 0030029691 scopus 로고    scopus 로고
    • Endothelin receptor-mediated signaling in Hirschsprung disease
    • Chakravarti, A. 1996. Endothelin receptor-mediated signaling in Hirschsprung disease. Hum Molec Genet 5: 303-307.
    • (1996) Hum Molec Genet , vol.5 , pp. 303-307
    • Chakravarti, A.1
  • 29
    • 0024564862 scopus 로고
    • The oncogene associated with human papillary thyroid carcinoma (PTC) is assigned to chromosome 10 q11-q12 in the same region as multiple endocrine neoplasia type 2A (MEN2A)
    • Donghi R, Sozzi G, Pierotti MA, Biunno I, Miozzo M, Fusco A, Grieco M, Santoro M, Vecchio G, Spurr NK. 1989. The oncogene associated with human papillary thyroid carcinoma (PTC) is assigned to chromosome 10 q11-q12 in the same region as multiple endocrine neoplasia type 2A (MEN2A). Oncogene 4: 521-523.
    • (1989) Oncogene , vol.4 , pp. 521-523
    • Donghi, R.1    Sozzi, G.2    Pierotti, M.A.3    Biunno, I.4    Miozzo, M.5    Fusco, A.6    Grieco, M.7    Santoro, M.8    Vecchio, G.9    Spurr, N.K.10
  • 32
    • 0030065375 scopus 로고    scopus 로고
    • Common origin and developmental dependence on c-ret of subsets of enteric and sympathetic neuroblasts
    • Durbec PL, Larsson-Blomberg LB, Schuchardt A, Costantini F, Pachnis V. 1996. Common origin and developmental dependence on c-ret of subsets of enteric and sympathetic neuroblasts. Development 122: 349-358.
    • (1996) Development , vol.122 , pp. 349-358
    • Durbec, P.L.1    Larsson-Blomberg, L.B.2    Schuchardt, A.3    Costantini, F.4    Pachnis, V.5
  • 35
    • 0036471846 scopus 로고    scopus 로고
    • Functional characterization of mutations in the GDNF gene of patients with Hirschsprung disease
    • Eketjäll S, Ibáñez CF. 2002. Functional characterization of mutations in the GDNF gene of patients with Hirschsprung disease. Hum Mol Genet 11: 325-329.
    • (2002) Hum Mol Genet , vol.11 , pp. 325-329
    • Eketjäll, S.1    Ibáñez, C.F.2
  • 36
    • 16244370056 scopus 로고    scopus 로고
    • Phox2b function in the enteric nervous system is conserved in zebrafish and is sox10-dependent
    • Elworthy S, Pinto JP, Pettifer A, Cancela ML, Kelsh RN. 2005. Phox2b function in the enteric nervous system is conserved in zebrafish and is sox10-dependent. Mech Dev 122: 659-669.
    • (2005) Mech Dev , vol.122 , pp. 659-669
    • Elworthy, S.1    Pinto, J.P.2    Pettifer, A.3    Cancela, M.L.4    Kelsh, R.N.5
  • 41
    • 44449166018 scopus 로고    scopus 로고
    • Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease
    • Fitze G, König IR, Paditz E, Serra A, Schläfke M, Roesner D, Ziegler A, Schackert HK. 2008. Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease. Am J Med Genet A 146: 1486-1489.
    • (2008) Am J Med Genet A , vol.146 , pp. 1486-1489
    • Fitze, G.1    König, I.R.2    Paditz, E.3    Serra, A.4    Schläfke, M.5    Roesner, D.6    Ziegler, A.7    Schackert, H.K.8
  • 44
    • 0345385015 scopus 로고    scopus 로고
    • Association study of PHOX2B as a candidate gene for Hirschsprung's disease
    • Garcia-Barcelo M, Sham MH, Lui VC, Chen BL, Ott J, Tam PK. 2003. Association study of PHOX2B as a candidate gene for Hirschsprung's disease. Gut 52: 563-567.
    • (2003) Gut , vol.52 , pp. 563-567
    • Garcia-Barcelo, M.1    Sham, M.H.2    Lui, V.C.3    Chen, B.L.4    Ott, J.5    Tam, P.K.6
  • 49
    • 0022393182 scopus 로고
    • Hirschsprung's disease: a genetic study
    • Garver KL, Law JC, Garver B. 1985. Hirschsprung's disease: a genetic study. Clin Genet 28: 503-508.
    • (1985) Clin Genet , vol.28 , pp. 503-508
    • Garver, K.L.1    Law, J.C.2    Garver, B.3
  • 50
    • 77957018570 scopus 로고    scopus 로고
    • Developmental determinants of the independence and complexity of the enteric nervous system
    • Gershon MD. 2010. Developmental determinants of the independence and complexity of the enteric nervous system. Trends Neurosci 33: 446-56.
    • (2010) Trends Neurosci , vol.33 , pp. 446-456
    • Gershon, M.D.1
  • 51
    • 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. 2003. GDNF availability determines enteric neuron number by controlling precursor proliferation. Development 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
  • 54
    • 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. 1999. 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 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
  • 56
    • 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. 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    Giaid, A.6    Yanagisawa, M.7
  • 57
    • 0033305444 scopus 로고    scopus 로고
    • The role of amino acids surrounding tyrosine 1062 in ret in specific binding of the shc phosphotyrosine-binding domain
    • Ishiguro Y, Iwashita T, Murakami H, Asai N, Iida K, Goto H, Hayakawa T, Takahashi M. 1999. The role of amino acids surrounding tyrosine 1062 in ret in specific binding of the shc phosphotyrosine-binding domain. Endocrinology 140: 3992-3998.
    • (1999) Endocrinology , vol.140 , pp. 3992-3998
    • Ishiguro, Y.1    Iwashita, T.2    Murakami, H.3    Asai, N.4    Iida, K.5    Goto, H.6    Hayakawa, T.7    Takahashi, M.8
  • 58
    • 0029798406 scopus 로고    scopus 로고
    • Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain
    • Iwashita T, Murakami H, Asai N, Takahashi M. 1996. Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain. Hum Mol Genet 5: 1577-1580.
    • (1996) Hum Mol Genet , vol.5 , pp. 1577-1580
    • Iwashita, T.1    Murakami, H.2    Asai, N.3    Takahashi, M.4
  • 60
  • 61
    • 0026673148 scopus 로고
    • A transgenic model for studying development of the enteric nervous system in normal and aganglionic mice
    • Kapur RP, Yost C, Palmiter RD. 1992. A transgenic model for studying development of the enteric nervous system in normal and aganglionic mice. Development 116: 167-175.
    • (1992) Development , vol.116 , pp. 167-175
    • Kapur, R.P.1    Yost, C.2    Palmiter, R.D.3
  • 62
    • 33748944201 scopus 로고    scopus 로고
    • Sorting out Sox10 functions in neural crest development
    • Kelsh RN. 2006. Sorting out Sox10 functions in neural crest development. Bioessays 28: 788-798.
    • (2006) Bioessays , vol.28 , pp. 788-798
    • Kelsh, R.N.1
  • 63
    • 0037447462 scopus 로고    scopus 로고
    • Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer
    • Lang D, Epstein JA. 2003. Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. Hum Mol Genet. 12: 937-945.
    • (2003) Hum Mol Genet. , vol.12 , pp. 937-945
    • Lang, D.1    Epstein, J.A.2
  • 64
    • 33644815947 scopus 로고    scopus 로고
    • Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles
    • Lantieri F, Griseri P, Puppo F, Campus R, Martucciello G, Ravazzolo R, Devoto M, Ceccherini I. 2006. Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles. Ann Hum Genet 70: 12-26.
    • (2006) Ann Hum Genet , vol.70 , pp. 12-26
    • Lantieri, F.1    Griseri, P.2    Puppo, F.3    Campus, R.4    Martucciello, G.5    Ravazzolo, R.6    Devoto, M.7    Ceccherini, I.8
  • 65
    • 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. Dev Biol 259: 162-175.
    • (2003) Dev Biol , vol.259 , pp. 162-175
    • Lee, H.O.1    Levorse, J.M.2    Shin, M.K.3
  • 66
    • 0034536338 scopus 로고    scopus 로고
    • Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2
    • Lee M, Goodall J, Verastegui C, Ballotti R, Goding CR. 2000. Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2. J Biol Chem 275: 37978-37983.
    • (2000) J Biol Chem , vol.275 , pp. 37978-37983
    • Lee, M.1    Goodall, J.2    Verastegui, C.3    Ballotti, R.4    Goding, C.R.5
  • 67
    • 0035117136 scopus 로고    scopus 로고
    • The development of colon innervation in trisomy 16 mice and Hirschsprung's disease
    • Li JC, Mi KH, Zhou JL, Busch L, Kuhnel W. 2001. The development of colon innervation in trisomy 16 mice and Hirschsprung's disease. World J Gastroenterol 7: 16-21.
    • (2001) World J Gastroenterol , vol.7 , pp. 16-21
    • Li, J.C.1    Mi, K.H.2    Zhou, J.L.3    Busch, L.4    Kuhnel, W.5
  • 68
    • 50249185262 scopus 로고    scopus 로고
    • RET polymorphisms and the risk of Hirschsprung's disease in a Chinese population
    • Liu C, Jin L, Hui L, Lou J, Luo C, Zhou X, Li JC. 2008. RET polymorphisms and the risk of Hirschsprung's disease in a Chinese population. J Hum Genet 53: 825-833.
    • (2008) J Hum Genet , vol.53 , pp. 825-833
    • Liu, C.1    Jin, L.2    Hui, L.3    Lou, J.4    Luo, C.5    Zhou, X.6    Li, J.C.7
  • 69
    • 69549106036 scopus 로고    scopus 로고
    • Association analysis of the PHOX2B gene with Hirschsprung disease in the Han Chinese population of Southeastern China
    • Liu CP, Li XG, Lou JT, Xue Y, Luo CF, Zhou XW, Chen F, Li X, Li M, Li JC. 2009. Association analysis of the PHOX2B gene with Hirschsprung disease in the Han Chinese population of Southeastern China. J Pediatr Surg 44: 1805-1811.
    • (2009) J Pediatr Surg , vol.44 , pp. 1805-1811
    • Liu, C.P.1    Li, X.G.2    Lou, J.T.3    Xue, Y.4    Luo, C.F.5    Zhou, X.W.6    Chen, F.7    Li, X.8    Li, M.9    Li, J.C.10
  • 70
    • 41649089082 scopus 로고    scopus 로고
    • KBP is essential for axonal structure, outgrowth and maintenance in zebrafish, providing insight into the cellular basis of Goldberg-Shprintzen syndrome
    • Lyons DA, Naylor SG, Mercurio S, Dominguez C, Talbot WS. 2008. KBP is essential for axonal structure, outgrowth and maintenance in zebrafish, providing insight into the cellular basis of Goldberg-Shprintzen syndrome. Development 135: 599-608.
    • (2008) Development , vol.135 , pp. 599-608
    • Lyons, D.A.1    Naylor, S.G.2    Mercurio, S.3    Dominguez, C.4    Talbot, W.S.5
  • 72
    • 0034806070 scopus 로고    scopus 로고
    • EDNRB/EDN3 and Hirschsprung disease type II
    • McCallion AS, Chakravarti A. 2001. EDNRB/EDN3 and Hirschsprung disease type II. Pigment Cell Res 14: 161-169.
    • (2001) Pigment Cell Res , vol.14 , pp. 161-169
    • McCallion, A.S.1    Chakravarti, A.2
  • 74
    • 1442301672 scopus 로고    scopus 로고
    • The dependence receptor hypothesis
    • Mehlen P, Bredesen DE. 2004. The dependence receptor hypothesis. Apoptosis 9: 37-49.
    • (2004) Apoptosis , vol.9 , pp. 37-49
    • Mehlen, P.1    Bredesen, D.E.2
  • 78
    • 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. 2002. Requirement of signalling by receptor tyrosine kinase RET for the directed migration of enteric nervous system progenitor cells during mammalian embryogenesis. Development 129: 5151-5160.
    • (2002) Development , vol.129 , pp. 5151-5160
    • Natarajan, D.1    Marcos-Gutierrez, C.2    Pachnis, V.3    de Graaff, E.4
  • 79
    • 0037112741 scopus 로고    scopus 로고
    • Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung disease
    • Paratore C, Eichenberger C, Suter U, Sommer L. 2002. Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung disease. Hum Mol Genet 11: 3075-3085.
    • (2002) Hum Mol Genet , vol.11 , pp. 3075-3085
    • Paratore, C.1    Eichenberger, C.2    Suter, U.3    Sommer, L.4
  • 82
    • 0027161250 scopus 로고
    • Ablation of various regions within the avian vagal neural crest has differential effects on ganglion formation in the fore-, min- and hindgut
    • Peters-van der Sanden MJ, Kirby ML, Gittenberger-de Groot A, Tibboel D, Mulder MP, Meijers C. 1993. Ablation of various regions within the avian vagal neural crest has differential effects on ganglion formation in the fore-, min- and hindgut. Dev Dyn 196: 183-194.
    • (1993) Dev Dyn , vol.196 , pp. 183-194
    • Peters-van der Sanden, M.J.1    Kirby, M.L.2    Gittenberger-de Groot, A.3    Tibboel, D.4    Mulder, M.P.5    Meijers, C.6
  • 88
    • 27344448283 scopus 로고    scopus 로고
    • Human microRNAs target a functionally distinct population of genes with AT-rich 3-UTRs
    • Robins H, Press WH. 2005. Human microRNAs target a functionally distinct population of genes with AT-rich 3-UTRs. Proc Natl Acad Sci USA 102: 15557-15562.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 15557-15562
    • Robins, H.1    Press, W.H.2
  • 93
    • 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
  • 94
    • 79251552835 scopus 로고    scopus 로고
    • Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression
    • Sribudiani Y, Metzger M, Osinga J, Rey A, Burns AJ, Thapar N, Hofstra RM. 2011. Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression. Gastroenterology 140: 572-582.
    • (2011) Gastroenterology , vol.140 , pp. 572-582
    • Sribudiani, Y.1    Metzger, M.2    Osinga, J.3    Rey, A.4    Burns, A.J.5    Thapar, N.6    Hofstra, R.M.7
  • 96
    • 0033054334 scopus 로고    scopus 로고
    • Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function?
    • Takahashi M, Iwashita T, Santoro M, Lyonnet S, Lenoir GM, Billaud M. 1999. Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function? Hum Mutat 13: 331-6.
    • (1999) Hum Mutat , vol.13 , pp. 331-336
    • Takahashi, M.1    Iwashita, T.2    Santoro, M.3    Lyonnet, S.4    Lenoir, G.M.5    Billaud, M.6
  • 97
    • 67650710799 scopus 로고    scopus 로고
    • Genetic basis of Hirschsprung's disease
    • Tam PK, Garcia-Barceló M. 2009. Genetic basis of Hirschsprung's disease. Pediatr Surg Int 25: 543-558.
    • (2009) Pediatr Surg Int , vol.25 , pp. 543-558
    • Tam, P.K.1    Garcia-Barceló, M.2
  • 100
    • 54949146428 scopus 로고    scopus 로고
    • Hirschsprung's disease: current management and prospects for transplantation of enteric nervous system progenitor cells
    • Theocharatos S, Kenny SE. 2008. Hirschsprung's disease: current management and prospects for transplantation of enteric nervous system progenitor cells. Early Hum Dev 84: 801-804.
    • (2008) Early Hum Dev , vol.84 , pp. 801-804
    • Theocharatos, S.1    Kenny, S.E.2
  • 101
    • 84866170730 scopus 로고    scopus 로고
    • An epidemiological study of Hirschsprung disease in a multiracial California population. In: The Third International Meetings: Hirschsprung disease and related neurocristopathies. Evian, France, 1998.
    • Torfs CP. 1998. An epidemiological study of Hirschsprung disease in a multiracial California population. In: The Third International Meetings: Hirschsprung disease and related neurocristopathies. Evian, France, 1998.
    • (1998)
    • Torfs, C.P.1
  • 102
    • 77953886431 scopus 로고    scopus 로고
    • Genetics of neurodegenerative diseases: insights from high-throughput resequencing
    • Tsuji S. 2010. Genetics of neurodegenerative diseases: insights from high-throughput resequencing. Hum Mol Genet 19: 65-70.
    • (2010) Hum Mol Genet , vol.19 , pp. 65-70
    • Tsuji, S.1
  • 103
    • 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
  • 104
    • 34447311093 scopus 로고    scopus 로고
    • Neural crest specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome
    • Van de Putte T, Francis A, Nelles L, van Grunsven LA, Huylebroeck D. 2007. Neural crest specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome. Hum Mol Genet 16: 1423-1436.
    • (2007) Hum Mol Genet , vol.16 , pp. 1423-1436
    • Van de Putte, T.1    Francis, A.2    Nelles, L.3    van Grunsven, L.A.4    Huylebroeck, D.5
  • 105
    • 0035024214 scopus 로고    scopus 로고
    • Cloning and characterization of the human GFRA2 locus and investigation of the gene in Hirschsprung disease
    • Vanhorne JB, Gimm O, Myers SM, Kaushik A, von Deimling A, Eng C, Mulligan LM. 2001. Cloning and characterization of the human GFRA2 locus and investigation of the gene in Hirschsprung disease. Hum Genet 108: 409-415.
    • (2001) Hum Genet , vol.108 , pp. 409-415
    • Vanhorne, J.B.1    Gimm, O.2    Myers, S.M.3    Kaushik, A.4    von Deimling, A.5    Eng, C.6    Mulligan, L.M.7
  • 106
    • 42449120163 scopus 로고    scopus 로고
    • Decoding ARE-mediated decay: is microRNA part of the equation?
    • von RC, Gallouzi IE. 2008. Decoding ARE-mediated decay: is microRNA part of the equation? J Cell Biol 181: 189-194.
    • (2008) J Cell Biol , vol.181 , pp. 189-194
    • von, R.C.1    Gallouzi, I.E.2
  • 108
    • 0032128263 scopus 로고    scopus 로고
    • Role of endothelin-1/endothelin-A receptor-mediated signaling pathway in the aortic arch patterning in mice
    • Richardson
    • Yanagisawa H, Hammer RE, Richardson, Williams SC, Clouthier DE, Yanagisawa M. 1998. Role of endothelin-1/endothelin-A receptor-mediated signaling pathway in the aortic arch patterning in mice. J Clin Invest 102: 22-33.
    • (1998) J Clin Invest , vol.102 , pp. 22-33
    • Yanagisawa, H.1    Hammer, R.E.2    Williams, S.C.3    Clouthier, D.E.4    Yanagisawa, M.5
  • 109
    • 34547661461 scopus 로고    scopus 로고
    • Genetic analysis of RET, EDNRB, and EDN3 genes and three SNPs in MCS+9.7 in Chinese Patients with isolated Hirschsprung disease
    • Zhang XN, Zhou MN, Qiu YQ, Ding SP, Qi M, Li JC. 2007. Genetic analysis of RET, EDNRB, and EDN3 genes and three SNPs in MCS+9.7 in Chinese Patients with isolated Hirschsprung disease. Biochem Genet 45: 523-527.
    • (2007) Biochem Genet , vol.45 , pp. 523-527
    • Zhang, X.N.1    Zhou, M.N.2    Qiu, Y.Q.3    Ding, S.P.4    Qi, M.5    Li, J.C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.