메뉴 건너뛰기




Volumn 4, Issue 1-2, 2013, Pages 32-45

Sonic hedgehog signaling and VACTERL association

Author keywords

Ciliopathy; Congenital diseases; Hedgehog signaling

Indexed keywords

FOXF1 PROTEIN; HOXD13 PROTEIN; KIF7 PROTEIN; REGULATOR PROTEIN; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GLI1; TRANSCRIPTION FACTOR GLI2; TRANSCRIPTION FACTOR GLI3; UNCLASSIFIED DRUG;

EID: 84874068026     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000345725     Document Type: Article
Times cited : (27)

References (99)
  • 1
    • 0347764480 scopus 로고    scopus 로고
    • All mouse ventral spinal cord patterning by hedgehog is Gli dependent and involves an activator function of Gli3
    • Bai CB, Stephen D, Joyner AL: All mouse ventral spinal cord patterning by hedgehog is Gli dependent and involves an activator function of Gli3. Dev Cell 6: 103-115 (2004).
    • (2004) Dev Cell , vol.6 , pp. 103-115
    • Bai, C.B.1    Stephen, D.2    Joyner, A.L.3
  • 3
    • 16144368562 scopus 로고    scopus 로고
    • Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
    • Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, et al: Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet 14: 353-356 (1996).
    • (1996) Nat Genet , vol.14 , pp. 353-356
    • Belloni, E.1    Muenke, M.2    Roessler, E.3    Traverso, G.4    Siegel-Bartelt, J.5
  • 4
    • 0036566575 scopus 로고    scopus 로고
    • Pallister-Hall syndrome phenotype in mice mutant for Gli3
    • Böse J, Grotewold L, Rüther U: Pallister-Hall syndrome phenotype in mice mutant for Gli3. Hum Mol Genet 11: 1129-1135 (2002).
    • (2002) Hum Mol Genet , vol.11 , pp. 1129-1135
    • Böse, J.1    Grotewold, L.2    Rüther, U.3
  • 5
    • 80052295886 scopus 로고    scopus 로고
    • Control of mammalian kidney development by the Hedgehog signaling pathway
    • Cain JE, Rosenblum ND: Control of mammalian kidney development by the Hedgehog signaling pathway. Pediatr Nephrol 26: 1365-1371 (2011).
    • (2011) Pediatr Nephrol , vol.26 , pp. 1365-1371
    • Cain, J.E.1    Rosenblum, N.D.2
  • 6
    • 70350217255 scopus 로고    scopus 로고
    • Gli3 repressor controls nephron number via regulation of Wnt11 and Ret in ureteric tip cells
    • Cain JE, Islam E, Haxho F, Chen L, Bridgewater D, et al: Gli3 repressor controls nephron number via regulation of Wnt11 and Ret in ureteric tip cells. PLoS One 4:e7313 (2009).
    • (2009) PLoS One , vol.4
    • Cain, J.E.1    Islam, E.2    Haxho, F.3    Chen, L.4    Bridgewater, D.5
  • 7
    • 79952219144 scopus 로고    scopus 로고
    • Gli3 repressor controls functional development of the mouse ureter
    • Cain JE, Islam E, Haxho F, Blake J, Rosenblum ND: Gli3 repressor controls functional development of the mouse ureter. J Clin Invest 121: 1199-1206 (2011).
    • (2011) J Clin Invest , vol.121 , pp. 1199-1206
    • Cain, J.E.1    Islam, E.2    Haxho, F.3    Blake, J.4    Rosenblum, N.D.5
  • 8
    • 69449084098 scopus 로고    scopus 로고
    • The kinesin protein Kif7 is a critical regulator of Gli transcription factors in mammalian hedgehog signaling
    • Cheung HO, Zhang X, Ribeiro A, Mo R, Makino S, et al: The kinesin protein Kif7 is a critical regulator of Gli transcription factors in mammalian hedgehog signaling. Sci Signal 2:ra29 (2009).
    • (2009) Sci Signal , vol.2
    • Cheung, H.O.1    Zhang, X.2    Ribeiro, A.3    Mo, R.4    Makino, S.5
  • 9
    • 0029777408 scopus 로고    scopus 로고
    • Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
    • Chiang C, Litingtung Y, Lee E, Young KE, Corden JL, et al: Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 383: 407-413 (1996).
    • (1996) Nature , vol.383 , pp. 407-413
    • Chiang, C.1    Litingtung, Y.2    Lee, E.3    Young, K.E.4    Corden, J.L.5
  • 10
    • 84867897916 scopus 로고    scopus 로고
    • Sonic hedgehog in the notochord is sufficient for patterning of the intervertebral discs
    • Choi KS, Lee C, Harfe BD: Sonic hedgehog in the notochord is sufficient for patterning of the intervertebral discs. Mec Dev 129: 255-262 (2012).
    • (2012) Mec Dev , vol.129 , pp. 255-262
    • Choi, K.S.1    Lee, C.2    Harfe, B.D.3
  • 11
    • 70350371586 scopus 로고    scopus 로고
    • The primary cilium coordinates early cardiogenesis and hedgehog signaling in cardiomyocyte differentiation
    • Clement CA, Kristensen SG, Møllgård K, Pazour GJ, Yoder BK, et al: The primary cilium coordinates early cardiogenesis and hedgehog signaling in cardiomyocyte differentiation. J Cell Sci 122: 3070-3082 (2009).
    • (2009) J Cell Sci , vol.122 , pp. 3070-3082
    • Clement, C.A.1    Kristensen, S.G.2    Møllgård, K.3    Pazour, G.J.4    Yoder, B.K.5
  • 12
    • 27644584608 scopus 로고    scopus 로고
    • Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused
    • Cooper AF, Yu KP, Brueckner M, Brailey LL, Johnson L, et al: Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused. Development 132: 4407-4417 (2005).
    • (2005) Development , vol.132 , pp. 4407-4417
    • Cooper, A.F.1    Yu, K.P.2    Brueckner, M.3    Brailey, L.L.4    Johnson, L.5
  • 13
    • 79960019930 scopus 로고    scopus 로고
    • Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics
    • Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, et al: Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest 121: 2662-2667 (2011).
    • (2011) J Clin Invest , vol.121 , pp. 2662-2667
    • Dafinger, C.1    Liebau, M.C.2    Elsayed, S.M.3    Hellenbroich, Y.4    Boltshauser, E.5
  • 14
    • 0029867615 scopus 로고    scopus 로고
    • Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: Complex defect of blastogenesis?
    • David A, Mercier J, Verloes A: Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: complex defect of blastogenesis? Am J Med Genet 62: 1-5 (1996).
    • (1996) Am J Med Genet , vol.62 , pp. 1-5
    • David, A.1    Mercier, J.2    Verloes, A.3
  • 15
    • 0027358721 scopus 로고
    • Disruption of the Hoxd-13 gene induces localized heterochrony leading to mice with neotenic limbs
    • Dollé P, Dierich A, LeMeur M, Schimmang T, Schuhbaur B, et al: Disruption of the Hoxd-13 gene induces localized heterochrony leading to mice with neotenic limbs. Cell 75: 431-441 (1993).
    • (1993) Cell , vol.75 , pp. 431-441
    • Dollé, P.1    Dierich, A.2    Lemeur, M.3    Schimmang, T.4    Schuhbaur, B.5
  • 16
    • 0036850976 scopus 로고    scopus 로고
    • De novo GLI3 mutation in acrocallosal syndrome: Broadening the phenotypic spectrum of GLI3 defects and overlap with murine models
    • Elson E, Perveen R, Donnai D, Wall S, Black GC: De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J Med Genet 39: 804-806 (2002).
    • (2002) J Med Genet , vol.39 , pp. 804-806
    • Elson, E.1    Perveen, R.2    Donnai, D.3    Wall, S.4    Black, G.C.5
  • 17
    • 68149178664 scopus 로고    scopus 로고
    • The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development
    • Endoh-Yamagami S, Evangelista M, Wilson D, Wen X, Theunissen JW, et al: The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development. Curr Biol 19: 1320-1326 (2009).
    • (2009) Curr Biol , vol.19 , pp. 1320-1326
    • Endoh-Yamagami, S.1    Evangelista, M.2    Wilson, D.3    Wen, X.4    Theunissen, J.W.5
  • 18
    • 0028630689 scopus 로고
    • Patterning of mammalian somites by surface ectoderm and notochord: Evidence for sclerotome induction by a hedgehog homolog
    • Fan CM, Tessier-Lavigne M: Patterning of mammalian somites by surface ectoderm and notochord: evidence for sclerotome induction by a hedgehog homolog. Cell 79: 1175-1186 (1994).
    • (1994) Cell , vol.79 , pp. 1175-1186
    • Fan, C.M.1    Tessier-Lavigne, M.2
  • 19
    • 80052709712 scopus 로고    scopus 로고
    • A novel murine allele of intraflagellar transport protein 172 causes a syndrome including VACTERLlike features with hydrocephalus
    • Friedland-Little JM, Hoffmann AD, Ocbina PJ, Peterson MA, Bosman JD, et al: A novel murine allele of intraflagellar transport protein 172 causes a syndrome including VACTERLlike features with hydrocephalus. Hum Mol Genet 20: 3725-3737 (2011).
    • (2011) Hum Mol Genet , vol.20 , pp. 3725-3737
    • Friedland-Little, J.M.1    Hoffmann, A.D.2    Ocbina, P.J.3    Peterson, M.A.4    Bosman, J.D.5
  • 21
    • 20444408381 scopus 로고    scopus 로고
    • Hedgehog signaling induces cardiomyogenesis in P19 cells
    • Gianakopoulos PJ, Skerjanc IS: Hedgehog signaling induces cardiomyogenesis in P19 cells. J Biol Chem 280: 21022-21028 (2005).
    • (2005) J Biol Chem , vol.280 , pp. 21022-21028
    • Gianakopoulos, P.J.1    Skerjanc, I.S.2
  • 22
    • 34248588104 scopus 로고    scopus 로고
    • Independent requirements for hedgehog signaling by both the anterior heart field and neural crest cells for outflow tract development
    • Goddeeris MM, Schwartz R, Klingensmith J, Meyers EN: Independent requirements for hedgehog signaling by both the anterior heart field and neural crest cells for outflow tract development. Development 134: 1593-1604 (2007).
    • (2007) Development , vol.134 , pp. 1593-1604
    • Goddeeris, M.M.1    Schwartz, R.2    Klingensmith, J.3    Meyers, E.N.4
  • 23
    • 77951101203 scopus 로고    scopus 로고
    • The primary cilium: A signalling centre during vertebrate development
    • Goetz SC, Anderson KV: The primary cilium: A signalling centre during vertebrate development. Nat Rev Genet 11: 331-344 (2010).
    • (2010) Nat Rev Genet , vol.11 , pp. 331-344
    • Goetz, S.C.1    Anderson, K.V.2
  • 24
    • 0037108033 scopus 로고    scopus 로고
    • Limb malformations and the human HOX genes
    • Goodman FR: Limb malformations and the human HOX genes. Am J Med Genet 112: 256-265 (2002).
    • (2002) Am J Med Genet , vol.112 , pp. 256-265
    • Goodman, F.R.1
  • 25
    • 0037100086 scopus 로고    scopus 로고
    • Developmental field defects: Coming together of associations and sequences during blastogenesis
    • Hersh JH, Angle B, Fox TL, Barth RF, Bendon RW, Gowans G: Developmental field defects: coming together of associations and sequences during blastogenesis. Am J Med Genet 110: 320-323 (2002).
    • (2002) Am J Med Genet , vol.110 , pp. 320-323
    • Hersh, J.H.1    Angle, B.2    Fox, T.L.3    Barth, R.F.4    Bendon, R.W.5    Gowans, G.6
  • 26
    • 63349088603 scopus 로고    scopus 로고
    • A SHH-independent regulation of Gli3 is a significant determinant of anteroposterior patterning of the limb bud
    • Hill P, Götz K, Rüther U: A SHH-independent regulation of Gli3 is a significant determinant of anteroposterior patterning of the limb bud. Dev Biol 328: 506-516 (2009).
    • (2009) Dev Biol , vol.328 , pp. 506-516
    • Hill, P.1    Götz, K.2    Rüther, U.3
  • 28
    • 33845397717 scopus 로고    scopus 로고
    • Hippi is essential for node cilia assembly and Sonic hedgehog signaling
    • Houde C, Dickinson RJ, Houtzager VM, Cullum R, Montpetit R, et al: Hippi is essential for node cilia assembly and Sonic hedgehog signaling. Dev Biol 300: 523-533 (2006).
    • (2006) Dev Biol , vol.300 , pp. 523-533
    • Houde, C.1    Dickinson, R.J.2    Houtzager, V.M.3    Cullum, R.4    Montpetit, R.5
  • 29
    • 33244463281 scopus 로고    scopus 로고
    • Gli3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis
    • Hu MC, Mo R, Bhella S, Wilson CW, Chuang PT, et al: Gli3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis. Development 133: 569-578 (2006).
    • (2006) Development , vol.133 , pp. 569-578
    • Hu, M.C.1    Mo, R.2    Bhella, S.3    Wilson, C.W.4    Chuang, P.T.5
  • 30
    • 23844485210 scopus 로고    scopus 로고
    • Cilia and hedgehog responsiveness in the mouse
    • Huangfu D, Anderson KV: Cilia and hedgehog responsiveness in the mouse. Proc Natl Acad Sci USA 102: 11325-11330 (2005).
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 11325-11330
    • Huangfu, D.1    Anderson, K.V.2
  • 32
    • 0027478216 scopus 로고
    • A mouse model of Greig cephalopolysyndactyly syndrome: The extratoesj mutation contains an intragenic deletion of the Gli3 gene
    • Hui CC, Joyner AL: A mouse model of Greig cephalopolysyndactyly syndrome: the extratoesj mutation contains an intragenic deletion of the Gli3 gene. Nat Genet 3: 241-246 (1993).
    • (1993) Nat Genet , vol.3 , pp. 241-246
    • Hui, C.C.1    Joyner, A.L.2
  • 33
    • 80054022786 scopus 로고    scopus 로고
    • Gli proteins in development and disease
    • Hui CC, Angers S: Gli proteins in development and disease. Annu Rev Cell Dev Biol 27: 513-537 (2011).
    • (2011) Annu Rev Cell Dev Biol , vol.27 , pp. 513-537
    • Hui, C.C.1    Angers, S.2
  • 34
    • 0028281306 scopus 로고
    • Expression of three mouse homologs of the Drosophila segment polarity gene cubitus interruptus, Gli, Gli-2, and Gli-3, in ectoderm-and mesoderm-derived tissues suggests multiple roles during postimplantation development
    • Hui CC, Slusarski D, Platt KA, Holmgren R, Joyner AL: Expression of three mouse homologs of the Drosophila segment polarity gene cubitus interruptus, Gli, Gli-2, and Gli-3, in ectoderm-and mesoderm-derived tissues suggests multiple roles during postimplantation development. Dev Biol 162: 402-413 (1994).
    • (1994) Dev Biol , vol.162 , pp. 402-413
    • Hui, C.C.1    Slusarski, D.2    Platt, K.A.3    Holmgren, R.4    Joyner, A.L.5
  • 35
    • 77950463564 scopus 로고    scopus 로고
    • The output of Hedgehog signaling is controlled by the dynamic association between Suppressor of Fused and the Gli proteins
    • Humke EW, Dorn KV, Milenkovic L, Scott MP, Rohatgi R: The output of Hedgehog signaling is controlled by the dynamic association between Suppressor of Fused and the Gli proteins. Genes Dev 24: 670-682 (2010).
    • (2010) Genes Dev , vol.24 , pp. 670-682
    • Humke, E.W.1    Dorn, K.V.2    Milenkovic, L.3    Scott, M.P.4    Rohatgi, R.5
  • 36
    • 0030696897 scopus 로고    scopus 로고
    • Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis
    • Iida K, Koseki H, Kakinuma H, Kato N, Mizutani-Koseki Y, et al: Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis. Development 124: 4627-4638 (1997).
    • (1997) Development , vol.124 , pp. 4627-4638
    • Iida, K.1    Koseki, H.2    Kakinuma, H.3    Kato, N.4    Mizutani-Koseki, Y.5
  • 38
    • 72649104363 scopus 로고    scopus 로고
    • Foregut separation and tracheo-oesophageal malformations: The role of tracheal outgrowth, dorso-ventral patterning and programmed cell death
    • Ioannides AS, Massa V, Ferraro E, Cecconi F, Spitz L, et al: Foregut separation and tracheo-oesophageal malformations: the role of tracheal outgrowth, dorso-ventral patterning and programmed cell death. Dev Biol 337: 351-362 (2010).
    • (2010) Dev Biol , vol.337 , pp. 351-362
    • Ioannides, A.S.1    Massa, V.2    Ferraro, E.3    Cecconi, F.4    Spitz, L.5
  • 39
    • 0031833055 scopus 로고    scopus 로고
    • A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly
    • Johnson KR, Sweet HO, Donahue LR, Ward-Bailey P, Bronson RT, Davisson MT: A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly. Hum Mol Genet 7: 1033-1038 (1998).
    • (1998) Hum Mol Genet , vol.7 , pp. 1033-1038
    • Johnson, K.R.1    Sweet, H.O.2    Donahue, L.R.3    Ward-Bailey, P.4    Bronson, R.T.5    Davisson, M.T.6
  • 40
    • 0028651869 scopus 로고
    • Ectopic expression of Sonic hedgehog alters dorsal-ventral patterning of somites
    • Johnson RL, Laufer E, Riddle RD, Tabin C: Ectopic expression of Sonic hedgehog alters dorsal-ventral patterning of somites. Cell 79: 1165-1173 (1994).
    • (1994) Cell , vol.79 , pp. 1165-1173
    • Johnson, R.L.1    Laufer, E.2    Riddle, R.D.3    Tabin, C.4
  • 41
    • 20144387269 scopus 로고    scopus 로고
    • Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations
    • Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, et al: Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 76: 609-622 (2005).
    • (2005) Am J Hum Genet , vol.76 , pp. 609-622
    • Johnston, J.J.1    Olivos-Glander, I.2    Killoran, C.3    Elson, E.4    Turner, J.T.5
  • 42
    • 79251474031 scopus 로고    scopus 로고
    • Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
    • Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, et al: Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat 31: 1142-1154 (2010).
    • (2010) Hum Mutat , vol.31 , pp. 1142-1154
    • Johnston, J.J.1    Sapp, J.C.2    Turner, J.T.3    Amor, D.4    Aftimos, S.5
  • 43
    • 0031019090 scopus 로고    scopus 로고
    • GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome
    • Kang S, Graham JM Jr, Olney AH, Biesecker LG: GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 15: 266-268 (1997).
    • (1997) Nat Genet , vol.15 , pp. 266-268
    • Kang, S.1    Graham Jr., J.M.2    Olney, A.H.3    Biesecker, L.G.4
  • 44
    • 84860898145 scopus 로고    scopus 로고
    • IFT25 links the signal-dependent movement of hedgehog components to intraflagellar transport
    • Keady BT, Samtani R, Tobita K, Tsuchya M, San Agustin JT, et al: IFT25 links the signal-dependent movement of hedgehog components to intraflagellar transport. Dev Cell 22: 940-951 (2012).
    • (2012) Dev Cell , vol.22 , pp. 940-951
    • Keady, B.T.1    Samtani, R.2    Tobita, K.3    Tsuchya, M.4    San Agustin, J.T.5
  • 45
    • 0035025182 scopus 로고    scopus 로고
    • The VACTERL association: Lessons from the Sonic hedgehog pathway
    • Kim J, Kim P, Hui CC: The VACTERL association: lessons from the Sonic hedgehog pathway. Clin Genet 59: 306-315 (2001a).
    • (2001) Clin Genet , vol.59 , pp. 306-315
    • Kim, J.1    Kim, P.2    Hui, C.C.3
  • 46
    • 0035141226 scopus 로고    scopus 로고
    • Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway
    • Kim PC, Mo R, Hui CC: Murine models of VACTERL syndrome: role of sonic hedgehog signaling pathway. J Pediatr Surg 36: 381-384 (2001b).
    • (2001) J Pediatr Surg , vol.36 , pp. 381-384
    • Kim, P.C.1    Mo, R.2    Hui, C.C.3
  • 47
    • 0033966897 scopus 로고    scopus 로고
    • New mouse models of congenital anorectal malformations
    • Kimmel SG, Mo R, Hui CC, Kim PC: New mouse models of congenital anorectal malformations. J Pediatr Surg 35: 227-230 (2000).
    • (2000) J Pediatr Surg , vol.35 , pp. 227-230
    • Kimmel, S.G.1    Mo, R.2    Hui, C.C.3    Kim, P.C.4
  • 48
    • 67650979371 scopus 로고    scopus 로고
    • Paracrine Hedgehog signaling in stomach and intestine: New roles for hedgehog in gastrointestinal patterning
    • Kolterud A, Grosse AS, Zacharias WJ, Walton KD, Kretovich KE, et al: Paracrine Hedgehog signaling in stomach and intestine: new roles for hedgehog in gastrointestinal patterning. Gastroenterology 137: 618-628 (2009).
    • (2009) Gastroenterology , vol.137 , pp. 618-628
    • Kolterud, A.1    Grosse, A.S.2    Zacharias, W.J.3    Walton, K.D.4    Kretovich, K.E.5
  • 49
    • 0029835646 scopus 로고    scopus 로고
    • Function of posterior HoxD genes in the morphogenesis of the anal sphincter
    • Kondo T, Dollé P, Zákány J, Duboule D: Function of posterior HoxD genes in the morphogenesis of the anal sphincter. Development 122: 2651-2659 (1996).
    • (1996) Development , vol.122 , pp. 2651-2659
    • Kondo, T.1    Dollé, P.2    Zákány, J.3    Duboule, D.4
  • 50
    • 0034092938 scopus 로고    scopus 로고
    • Murine forkhead/ winged helix genes Foxc1 (Mf1) and Foxc2 (Mfh1) are required for the early organogenesis of the kidney and urinary tract
    • Kume T, Deng K, Hogan BL: Murine forkhead/ winged helix genes Foxc1 (Mf1) and Foxc2 (Mfh1) are required for the early organogenesis of the kidney and urinary tract. Development 127: 1387-1395 (2000a).
    • (2000) Development , vol.127 , pp. 1387-1395
    • Kume, T.1    Deng, K.2    Hogan, B.L.3
  • 51
    • 0033985592 scopus 로고    scopus 로고
    • Minimal phenotype of mice homozygous for a null mutation in the forkhead/winged helix gene, Mf2
    • Kume T, Deng K, Hogan BL: Minimal phenotype of mice homozygous for a null mutation in the forkhead/winged helix gene, Mf2. Mol Cell Biol 20: 1419-1425 (2000b).
    • (2000) Mol Cell Biol , vol.20 , pp. 1419-1425
    • Kume, T.1    Deng, K.2    Hogan, B.L.3
  • 52
    • 59849089050 scopus 로고    scopus 로고
    • Shared circuitry: Developmental signaling cascades regulate both embryonic and adult coronary vasculature
    • Lavine KJ, Ornitz DM: Shared circuitry: developmental signaling cascades regulate both embryonic and adult coronary vasculature. Circ Res 104: 159-169 (2009).
    • (2009) Circ Res , vol.104 , pp. 159-169
    • Lavine, K.J.1    Ornitz, D.M.2
  • 53
    • 69449099121 scopus 로고    scopus 로고
    • Mouse Kif7/Costal2 is a cilia-associated protein that regulates sonic hedgehog signaling
    • Liem KF Jr, He M, Ocbina PJ, Anderson KV: Mouse Kif7/Costal2 is a cilia-associated protein that regulates sonic hedgehog signaling. Proc Natl Acad Sci USA 106: 13377-13382 (2009).
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 13377-13382
    • Liem Jr., K.F.1    He, M.2    Ocbina, P.J.3    Anderson, K.V.4
  • 54
    • 0031711075 scopus 로고    scopus 로고
    • Sonic hedgehog is essential to foregut development
    • Litingtung Y, Lei L, Westphal H, Chiang C: Sonic hedgehog is essential to foregut development. Nat Genet 20: 58-61 (1998).
    • (1998) Nat Genet , vol.20 , pp. 58-61
    • Litingtung, Y.1    Lei, L.2    Westphal, H.3    Chiang, C.4
  • 55
    • 23144466931 scopus 로고    scopus 로고
    • Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors
    • Liu A, Wang B, Niswander LA: Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors. Development 132: 3103-3111 (2005).
    • (2005) Development , vol.132 , pp. 3103-3111
    • Liu, A.1    Wang, B.2    Niswander, L.A.3
  • 56
    • 33845192028 scopus 로고    scopus 로고
    • Sonic hedgehog, BMP4, and Hox genes in the development of anorectal malformations in Ethylenethiourea-exposed fetal rats
    • Mandhan P, Quan QB, Beasley S, Sullivan M: Sonic hedgehog, BMP4, and Hox genes in the development of anorectal malformations in Ethylenethiourea-exposed fetal rats. J Pediatr Surg 41: 2041-2045 (2006).
    • (2006) J Pediatr Surg , vol.41 , pp. 2041-2045
    • Mandhan, P.1    Quan, Q.B.2    Beasley, S.3    Sullivan, M.4
  • 57
    • 0034645507 scopus 로고    scopus 로고
    • Anal atresia, vertebral, genital, and urinary tract anomalies: A primary polytopic developmental field defect identified through an epidemiological analysis of associations
    • Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E: Anal atresia, vertebral, genital, and urinary tract anomalies: A primary polytopic developmental field defect identified through an epidemiological analysis of associations. Am J Med Genet 95: 169-173 (2000).
    • (2000) Am J Med Genet , vol.95 , pp. 169-173
    • Martínez-Frías, M.L.1    Bermejo, E.2    Rodríguez-Pinilla, E.3
  • 58
    • 27744484694 scopus 로고    scopus 로고
    • Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli
    • May SR, Ashique AM, Karlen M, Wang B, Shen Y, et al: Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli. Dev Biol 287: 378-389 (2005).
    • (2005) Dev Biol , vol.287 , pp. 378-389
    • May, S.R.1    Ashique, A.M.2    Karlen, M.3    Wang, B.4    Shen, Y.5
  • 59
    • 26944482355 scopus 로고    scopus 로고
    • Pax9 and Jagged1 act downstream of Gli3 in vertebrate limb development
    • McGlinn E, van Bueren KL, Fiorenza S, Mo R, Poh AM, et al: Pax9 and Jagged1 act downstream of Gli3 in vertebrate limb development. Mech Dev 122: 1218-1233 (2005).
    • (2005) Mech Dev , vol.122 , pp. 1218-1233
    • McGlinn, E.1    Van Bueren, K.L.2    Fiorenza, S.3    Mo, R.4    Poh, A.M.5
  • 60
    • 0037439152 scopus 로고    scopus 로고
    • Sonic hedgehog-dependent activation of Gli2 is essential for embryonic hair follicle development
    • Mill P, Mo R, Fu H, Grachtchouk M, Kim PC, et al: Sonic hedgehog-dependent activation of Gli2 is essential for embryonic hair follicle development. Genes Dev 17: 282-294 (2003).
    • (2003) Genes Dev , vol.17 , pp. 282-294
    • Mill, P.1    Mo, R.2    Fu, H.3    Grachtchouk, M.4    Kim, P.C.5
  • 61
    • 0031020221 scopus 로고    scopus 로고
    • Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development
    • Mo R, Freer AM, Zinyk DL, Crackower MA, Michaud J, et al: Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development. Development 124: 113-123 (1997).
    • (1997) Development , vol.124 , pp. 113-123
    • Mo, R.1    Freer, A.M.2    Zinyk, D.L.3    Crackower, M.A.4    Michaud, J.5
  • 62
    • 0034880142 scopus 로고    scopus 로고
    • Anorectal malformations caused by defects in sonic hedgehog signaling
    • Mo R, Kim JH, Zhang J, Chiang C, Hui CC, Kim PC: Anorectal malformations caused by defects in sonic hedgehog signaling. Am J Pathol 159: 765-774 (2001).
    • (2001) Am J Pathol , vol.159 , pp. 765-774
    • Mo, R.1    Kim, J.H.2    Zhang, J.3    Chiang, C.4    Hui, C.C.5    Kim, P.C.6
  • 63
    • 0031683165 scopus 로고    scopus 로고
    • Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus
    • Motoyama J, Liu J, Mo R, Ding Q, Post M, Hui CC: Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus. Nat Genet 20: 54-57 (1998).
    • (1998) Nat Genet , vol.20 , pp. 54-57
    • Motoyama, J.1    Liu, J.2    Mo, R.3    Ding, Q.4    Post, M.5    Hui, C.C.6
  • 64
    • 0032732443 scopus 로고    scopus 로고
    • The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly
    • Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, et al: The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet 8: 2479-2488 (1999).
    • (1999) Hum Mol Genet , vol.8 , pp. 2479-2488
    • Nanni, L.1    Ming, J.E.2    Bocian, M.3    Steinhaus, K.4    Bianchi, D.W.5
  • 65
    • 80052367818 scopus 로고    scopus 로고
    • Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans
    • Ngan ES, Garcia-Barceló MM, Yip BH, Poon HC, Lau ST, et al: Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans. J Clin Invest 121: 3467-3478 (2011).
    • (2011) J Clin Invest , vol.121 , pp. 3467-3478
    • Ngan, E.S.1    Garcia-Barceló, M.M.2    Yip, B.H.3    Poon, H.C.4    Lau, S.T.5
  • 66
    • 49449086772 scopus 로고    scopus 로고
    • Intraflagellar transport, cilia, and mammalian hedgehog signaling: Analysis in mouse embryonic fibroblasts
    • Ocbina PJ, Anderson KV: Intraflagellar transport, cilia, and mammalian hedgehog signaling: analysis in mouse embryonic fibroblasts. Dev Dyn 237: 2030-2038 (2008).
    • (2008) Dev Dyn , vol.237 , pp. 2030-2038
    • Ocbina, P.J.1    Anderson, K.V.2
  • 67
    • 0034055649 scopus 로고    scopus 로고
    • Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation
    • Park HL, Bai C, Platt KA, Matise MP, Beeghly A, et al: Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation. Development 127: 1593-1605 (2000).
    • (2000) Development , vol.127 , pp. 1593-1605
    • Park, H.L.1    Bai, C.2    Platt, K.A.3    Matise, M.P.4    Beeghly, A.5
  • 68
    • 79957618775 scopus 로고    scopus 로고
    • KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
    • Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, et al: KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet 43: 601-606 (2011).
    • (2011) Nat Genet , vol.43 , pp. 601-606
    • Putoux, A.1    Thomas, S.2    Coene, K.L.3    Davis, E.E.4    Alanay, Y.5
  • 70
    • 0033362154 scopus 로고    scopus 로고
    • The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations
    • Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, et al: The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; no phenotype prediction from the position of GLI3 mutations. Am J Hum Genet 65: 645-655 (1999).
    • (1999) Am J Hum Genet , vol.65 , pp. 645-655
    • Radhakrishna, U.1    Bornholdt, D.2    Scott, H.S.3    Patel, U.C.4    Rossier, C.5
  • 71
    • 0033916281 scopus 로고    scopus 로고
    • Hedgehog signals regulate multiple aspects of gastrointestinal development
    • Ramalho-Santos M, Melton DA, McMahon AP: Hedgehog signals regulate multiple aspects of gastrointestinal development. Development 127: 2763-2772 (2000).
    • (2000) Development , vol.127 , pp. 2763-2772
    • Ramalho-Santos, M.1    Melton, D.A.2    McMahon, A.P.3
  • 72
    • 84864400015 scopus 로고    scopus 로고
    • De novo germline and postzygotic mutations in AKT3, PIK3r2 and PIK3ca cause a spectrum of related megalencephaly syndromes
    • Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, et al: De novo germline and postzygotic mutations in AKT3, PIK3r2 and PIK3ca cause a spectrum of related megalencephaly syndromes. Nat Genet 44: 934-940 (2012).
    • (2012) Nat Genet , vol.44 , pp. 934-940
    • Rivière, J.B.1    Mirzaa, G.M.2    O'roak, B.J.3    Beddaoui, M.4    Alcantara, D.5
  • 73
    • 0028875032 scopus 로고
    • Sonic hedgehog is an endodermal signal inducing Bmp-4 and Hox genes during induction and regionalization of the chick hindgut
    • Roberts DJ, Johnson RL, Burke AC, Nelson CE, Morgan BA, Tabin C: Sonic hedgehog is an endodermal signal inducing Bmp-4 and Hox genes during induction and regionalization of the chick hindgut. Development 121: 3163-3174 (1995).
    • (1995) Development , vol.121 , pp. 3163-3174
    • Roberts, D.J.1    Johnson, R.L.2    Burke, A.C.3    Nelson, C.E.4    Morgan, B.A.5    Tabin, C.6
  • 74
    • 0030294408 scopus 로고    scopus 로고
    • Mutations in the human sonic hedgehog gene cause holoprosencephaly
    • Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, et al: Mutations in the human sonic hedgehog gene cause holoprosencephaly. Nat Genet 14: 357-360 (1996).
    • (1996) Nat Genet , vol.14 , pp. 357-360
    • Roessler, E.1    Belloni, E.2    Gaudenz, K.3    Jay, P.4    Berta, P.5
  • 75
    • 0344392285 scopus 로고    scopus 로고
    • Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features
    • Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, et al: Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci USA 100: 13424-13429 (2003).
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 13424-13429
    • Roessler, E.1    Du, Y.Z.2    Mullor, J.L.3    Casas, E.4    Allen, W.P.5
  • 76
    • 26444577884 scopus 로고    scopus 로고
    • A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and diseaseassociated human GLI2
    • Roessler E, Ermilov AN, Grange DK, Wang A, Grachtchouk M, et al: A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and diseaseassociated human GLI2. Hum Mol Genet 14: 2181-2188 (2005).
    • (2005) Hum Mol Genet , vol.14 , pp. 2181-2188
    • Roessler, E.1    Ermilov, A.N.2    Grange, D.K.3    Wang, A.4    Grachtchouk, M.5
  • 77
    • 34547110771 scopus 로고    scopus 로고
    • Patched1 regulates hedgehog signaling at the primary cilium
    • Rohatgi R, Milenkovic L, Scott MP: Patched1 regulates hedgehog signaling at the primary cilium. Science 317: 372-376 (2007).
    • (2007) Science , vol.317 , pp. 372-376
    • Rohatgi, R.1    Milenkovic, L.2    Scott, M.P.3
  • 79
    • 0001466654 scopus 로고    scopus 로고
    • GLI3 mutations in human disorders mimic Drosophila Cubitus interruptus protein functions and localization
    • Shin SH, Kogerman P, Lindstrom E, Toftgárd R, Biesecker LG: GLI3 mutations in human disorders mimic Drosophila Cubitus interruptus protein functions and localization. Proc Natl Acad Sci USA 96: 2880-2884 (1999).
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 2880-2884
    • Shin, S.H.1    Kogerman, P.2    Lindstrom, E.3    Toftgárd, R.4    Biesecker, L.G.5
  • 81
    • 80052521660 scopus 로고    scopus 로고
    • Personalized genomic medicine: Lessons from the exome
    • Solomon BD, Pineda-Alvarez DE, Hadley DW; NISC Comparative Sequencing Program, Teer JK, et al: Personalized genomic medicine: lessons from the exome. Mol Genet Metab 104: 189-191 (2011).
    • (2011) Mol Genet Metab , vol.104 , pp. 189-191
    • Solomon, B.D.1    Pineda-Alvarez, D.E.2    Hadley, D.W.3    Teer, J.K.4
  • 82
    • 66449113643 scopus 로고    scopus 로고
    • Genomic and genic deletions of the FOX gene cluster on 16q24 1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations
    • Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, et al: Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet 84: 780-791 (2009).
    • (2009) Am J Hum Genet , vol.84 , pp. 780-791
    • Stankiewicz, P.1    Sen, P.2    Bhatt, S.S.3    Storer, M.4    Xia, Z.5
  • 83
    • 0037083760 scopus 로고    scopus 로고
    • Mutual genetic antagonism involving GLI3 and dHAND prepatterns the vertebrate limb bud mesenchyme prior to SHH signaling
    • te Welscher P, Fernandez-Teran M, Ros MA, Zeller R: Mutual genetic antagonism involving GLI3 and dHAND prepatterns the vertebrate limb bud mesenchyme prior to SHH signaling. Genes Dev 16: 421-426 (2002a).
    • (2002) Genes Dev , vol.16 , pp. 421-426
    • Te Welscher, P.1    Fernandez-Teran, M.2    Ros, M.A.3    Zeller, R.4
  • 84
    • 0037174679 scopus 로고    scopus 로고
    • Progression of vertebrate limb development through SHH-mediated counteraction of GLI3
    • te Welscher P, Zuniga A, Kuijper S, Drenth T, Goedemans HJ, et al: Progression of vertebrate limb development through SHH-mediated counteraction of GLI3. Science 298: 827-830 (2002b).
    • (2002) Science , vol.298 , pp. 827-830
    • Te Welscher, P.1    Zuniga, A.2    Kuijper, S.3    Drenth, T.4    Goedemans, H.J.5
  • 85
    • 77649337790 scopus 로고    scopus 로고
    • Hedgehog beyond medulloblastoma and basal cell carcinoma
    • Teglund S, Toftgård R: Hedgehog beyond medulloblastoma and basal cell carcinoma. Biochim Biophys Acta 1805: 181-208 (2010).
    • (2010) Biochim Biophys Acta , vol.1805 , pp. 181-208
    • Teglund, S.1    Toftgård, R.2
  • 86
    • 59149088483 scopus 로고    scopus 로고
    • Hedgehog signaling plays a cell-autonomous role in maximizing cardiac developmental potential
    • Thomas NA, Koudijs M, van Eeden FJ, Joyner AL, Yelon D: Hedgehog signaling plays a cell-autonomous role in maximizing cardiac developmental potential. Development 135: 3789-3799 (2008).
    • (2008) Development , vol.135 , pp. 3789-3799
    • Thomas, N.A.1    Koudijs, M.2    Van Eeden, F.J.3    Joyner, A.L.4    Yelon, D.5
  • 87
    • 3042799334 scopus 로고    scopus 로고
    • Patched controls the Hedgehog gradient by endocytosis in a dynamin-dependent manner, but this internalization does not play a major role in signal transduction
    • Torroja C, Gorfinkiel N, Guerrero I: Patched controls the Hedgehog gradient by endocytosis in a dynamin-dependent manner, but this internalization does not play a major role in signal transduction. Development 131: 2395-2408 (2004).
    • (2004) Development , vol.131 , pp. 2395-2408
    • Torroja, C.1    Gorfinkiel, N.2    Guerrero, I.3
  • 88
    • 0033613180 scopus 로고    scopus 로고
    • Multiple leftright asymmetry defects in S hh-/-mutant mice unveil a convergence of the Shh and retinoic acid pathways in the control of Lefty-1
    • Tsukui T, Capdevila J, Tamura K, Ruiz-Lozano P, Rodriguez-Esteban C, et al: Multiple leftright asymmetry defects in S hh-/-mutant mice unveil a convergence of the Shh and retinoic acid pathways in the control of Lefty-1. Proc Natl Acad Sci USA 96: 11376-11381 (1999).
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 11376-11381
    • Tsukui, T.1    Capdevila, J.2    Tamura, K.3    Ruiz-Lozano, P.4    Rodriguez-Esteban, C.5
  • 89
    • 77958508124 scopus 로고    scopus 로고
    • A mechanism for vertebrate Hedgehog signaling: Recruitment to cilia and dissociation of SuFu-Gli protein complexes
    • Tukachinsky H, Lopez LV, Salic A: A mechanism for vertebrate Hedgehog signaling: recruitment to cilia and dissociation of SuFu-Gli protein complexes. J Cell Biol 191: 415-428 (2010).
    • (2010) J Cell Biol , vol.191 , pp. 415-428
    • Tukachinsky, H.1    Lopez, L.V.2    Salic, A.3
  • 90
    • 84863970074 scopus 로고    scopus 로고
    • De novo mutations in human genetic disease
    • Veltman JA, Brunner HG: De novo mutations in human genetic disease. Nat Rev Genet 13: 565-575 (2012).
    • (2012) Nat Rev Genet , vol.13 , pp. 565-575
    • Veltman, J.A.1    Brunner, H.G.2
  • 91
    • 0025812172 scopus 로고
    • Gli3 zinc-finger gene interrupted by translocations in Greig syndrome families
    • Vortkamp A, Gessler M, Grzeschik KH: Gli3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 352: 539-540 (1991).
    • (1991) Nature , vol.352 , pp. 539-540
    • Vortkamp, A.1    Gessler, M.2    Grzeschik, K.H.3
  • 92
    • 78349305842 scopus 로고    scopus 로고
    • Direct and indirect requirements of Shh/Gli signaling in early pituitary development
    • Wang Y, Martin JF, Bai CB: Direct and indirect requirements of Shh/Gli signaling in early pituitary development. Dev Biol 348: 199-209 (2010).
    • (2010) Dev Biol , vol.348 , pp. 199-209
    • Wang, Y.1    Martin, J.F.2    Bai, C.B.3
  • 93
    • 22144454250 scopus 로고    scopus 로고
    • Sonic hedgehog is required for cardiac outflow tract and neural crest cell development
    • Washington Smoak I, Byrd NA, Abu-Issa R, Goddeeris MM, Anderson R, et al: Sonic hedgehog is required for cardiac outflow tract and neural crest cell development. Dev Biol 283: 357-372 (2005).
    • (2005) Dev Biol , vol.283 , pp. 357-372
    • Washington Smoak, I.1    Byrd, N.A.2    Abu-Issa, R.3    Goddeeris, M.M.4    Anderson, R.5
  • 94
    • 0037439240 scopus 로고    scopus 로고
    • Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer
    • Yamagishi H, Maeda J, Hu T, McAnally J, Conway SJ, et al: Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Genes Dev 17: 269-281 (2003).
    • (2003) Genes Dev , vol.17 , pp. 269-281
    • Yamagishi, H.1    Maeda, J.2    Hu, T.3    McAnally, J.4    Conway, S.J.5
  • 95
    • 75749139262 scopus 로고    scopus 로고
    • Activation of the hedgehog-signaling pathway in human cancer and the clinical implications
    • Yang L, Xie G, Fan Q, Xie J: Activation of the hedgehog-signaling pathway in human cancer and the clinical implications. Oncogene 29: 469-481 (2010).
    • (2010) Oncogene , vol.29 , pp. 469-481
    • Yang, L.1    Xie, G.2    Fan, Q.3    Xie, J.4
  • 96
    • 0036860686 scopus 로고    scopus 로고
    • Sonic hedgehog regulates proliferation and differentiation of mesenchymal cells in the mouse metanephric kidney
    • Yu J, Carroll TJ, McMahon AP: Sonic hedgehog regulates proliferation and differentiation of mesenchymal cells in the mouse metanephric kidney. Development 129: 5301-5312 (2002).
    • (2002) Development , vol.129 , pp. 5301-5312
    • Yu, J.1    Carroll, T.J.2    McMahon, A.P.3
  • 97
    • 77956912119 scopus 로고    scopus 로고
    • Esophageal stenosis in a child presenting a de novo 7q terminal deletion
    • Zen PR, Riegel M, Rosa RF, Pinto LL, Graziadio C, et al: Esophageal stenosis in a child presenting a de novo 7q terminal deletion. Eur J Med Genet 53: 333-336 (2010).
    • (2010) Eur J Med Genet , vol.53 , pp. 333-336
    • Zen, P.R.1    Riegel, M.2    Rosa, R.F.3    Pinto, L.L.4    Graziadio, C.5
  • 98
    • 0035958941 scopus 로고    scopus 로고
    • Smoothened mutants reveal redundant roles for Shh and Ihh signaling including regulation of L/R symmetry by the mouse node
    • Zhang XM, Ramalho-Santos M, McMahon AP: Smoothened mutants reveal redundant roles for Shh and Ihh signaling including regulation of L/R symmetry by the mouse node. Cell 106: 781-792 (2001).
    • (2001) Cell , vol.106 , pp. 781-792
    • Zhang, X.M.1    Ramalho-Santos, M.2    McMahon, A.P.3
  • 99
    • 33846641577 scopus 로고    scopus 로고
    • Mutations in HOXD13 underlie syndactyly type v and a novel brachydactyly-syndactyly syndrome
    • Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, et al: Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. Am J Hum Genet 80: 361-371 (2007).
    • (2007) Am J Hum Genet , vol.80 , pp. 361-371
    • Zhao, X.1    Sun, M.2    Zhao, J.3    Leyva, J.A.4    Zhu, H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.