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Volumn 71, Issue 5, 2002, Pages 1017-1032

Multiple hits during early embryonic development: Digenic diseases and holoprosencephaly

Author keywords

[No Author keywords available]

Indexed keywords

EMBRYO DEVELOPMENT; GENE MUTATION; GENETIC ASSOCIATION; HOLOPROSENCEPHALY; HUMAN; MOLECULAR GENETICS; MULTIGENE FAMILY; PENETRANCE; PRIORITY JOURNAL; REVIEW;

EID: 0036844229     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/344412     Document Type: Article
Times cited : (270)

References (123)
  • 1
    • 0033365218 scopus 로고    scopus 로고
    • Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance
    • Adato A, Kalinski H, Weil D, Chaib H, Korostishevsky M, Bonne-Tamir B (1999) Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. Am J Hum Genet 65:261-265
    • (1999) Am J Hum Genet , vol.65 , pp. 261-265
    • Adato, A.1    Kalinski, H.2    Weil, D.3    Chaib, H.4    Korostishevsky, M.5    Bonne-Tamir, B.6
  • 3
    • 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
  • 4
    • 0027960488 scopus 로고
    • A novel zinc finger protein, zic, is involved in neurogenesis, especially in the cell lineage of cerebellar granule cells
    • Aruga J, Yokota N, Hashimoto M, Furuichi T, Fukuda M, Mikoshiba K (1994) A novel zinc finger protein, zic, is involved in neurogenesis, especially in the cell lineage of cerebellar granule cells. J Neurochem 63:1880-1890
    • (1994) J Neurochem , vol.63 , pp. 1880-1890
    • Aruga, J.1    Yokota, N.2    Hashimoto, M.3    Furuichi, T.4    Fukuda, M.5    Mikoshiba, K.6
  • 9
    • 0002854163 scopus 로고    scopus 로고
    • Genetics, biochemistry, and molecular bases of variant human phenotypes
    • Scriver C, Beaudet A, Sly W, Valle D (eds). McGraw-Hill, New York
    • Beaudet A, Scriver C, Sly W, Valle D (2001) Genetics, biochemistry, and molecular bases of variant human phenotypes. In: Scriver C, Beaudet A, Sly W, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease, 8th Ed. McGraw-Hill, New York, pp 3-45
    • (2001) The Metabolic and Molecular Bases of Inherited Disease, 8th Ed. , pp. 3-45
    • Beaudet, A.1    Scriver, C.2    Sly, W.3    Valle, D.4
  • 10
    • 0034639693 scopus 로고    scopus 로고
    • Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus
    • Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR (2000) Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet 9:367-374
    • (2000) Hum Mol Genet , vol.9 , pp. 367-374
    • Bejjani, B.A.1    Stockton, D.W.2    Lewis, R.A.3    Tomey, K.F.4    Dueker, D.K.5    Jabak, M.6    Astle, W.F.7    Lupski, J.R.8
  • 12
    • 0028027745 scopus 로고
    • Melanocyte-specific expression of the human tyrosinase promoter: Activation by the microphthalmia gene product and role of the initiator
    • Bentley NJ, Eisen T, Goding CR (1994) Melanocyte-specific expression of the human tyrosinase promoter: Activation by the microphthalmia gene product and role of the initiator. Mol Cell Biol 14:7996-8006
    • (1994) Mol Cell Biol , vol.14 , pp. 7996-8006
    • Bentley, N.J.1    Eisen, T.2    Goding, C.R.3
  • 13
    • 0029558541 scopus 로고
    • A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif
    • Bertolino E, Reimund B, Wildt-Perinic D, Clerc R (1995) A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif. J Biol Chem 270:31178-31188
    • (1995) J Biol Chem , vol.270 , pp. 31178-31188
    • Bertolino, E.1    Reimund, B.2    Wildt-Perinic, D.3    Clerc, R.4
  • 14
    • 0035879632 scopus 로고    scopus 로고
    • Classification of left-right patterning defects in zebrafish, mice, and humans
    • Bisgrove BW, Yost HJ (2001) Classification of left-right patterning defects in zebrafish, mice, and humans. Am J Med Genet 101:315-323
    • (2001) Am J Med Genet , vol.101 , pp. 315-323
    • Bisgrove, B.W.1    Yost, H.J.2
  • 15
    • 0032505025 scopus 로고    scopus 로고
    • Casting an eye over cyclopia
    • Blader P, Strahle U (1998) Casting an eye over cyclopia. Nature 395:112-113
    • (1998) Nature , vol.395 , pp. 112-113
    • Blader, P.1    Strahle, U.2
  • 18
    • 0032507944 scopus 로고    scopus 로고
    • Gli/Zic factors pattern the neural plate by defining domains of cell differentiation
    • Brewster R, Lee J, Ruiz i Altaba A (1998) Gli/Zic factors pattern the neural plate by defining domains of cell differentiation. Nature 393:579-583
    • (1998) Nature , vol.393 , pp. 579-583
    • Brewster, R.1    Lee, J.2    Ruiz i Altaba, A.3
  • 21
    • 0036788576 scopus 로고    scopus 로고
    • Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease
    • Carrasquillo M, McCallion A, Puffenberger E, Kashuk C, Nouri N, Chakravarti A (2002) Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet 60:237-244
    • (2002) Nat Genet , vol.60 , pp. 237-244
    • Carrasquillo, M.1    McCallion, A.2    Puffenberger, E.3    Kashuk, C.4    Nouri, N.5    Chakravarti, A.6
  • 22
    • 0029777408 scopus 로고    scopus 로고
    • Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
    • Chiang C, Litingtung Y, Lee E, Young K, Corden J, Westphal H, Beachy P (1996) Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 383: 407-413
    • (1996) Nature , vol.383 , pp. 407-413
    • Chiang, C.1    Litingtung, Y.2    Lee, E.3    Young, K.4    Corden, J.5    Westphal, H.6    Beachy, P.7
  • 23
    • 0024317567 scopus 로고
    • Perspectives on holoprosencephaly. I. Epidemiology, genetics, and syndromology
    • Cohen MM Jr (1989) Perspectives on holoprosencephaly. I. Epidemiology, genetics, and syndromology. Teratology 40: 211-235
    • (1989) Teratology , vol.40 , pp. 211-235
    • Cohen, M.M.1
  • 24
    • 0037089999 scopus 로고    scopus 로고
    • Teratogenesis of holoprosencephaly
    • Cohen MM Jr, Shiota K (2002) Teratogenesis of holoprosencephaly. Am J Med Genet 109:1-15
    • (2002) Am J Med Genet , vol.109 , pp. 1-15
    • Cohen, M.M.1    Shiota, K.2
  • 26
    • 0033950129 scopus 로고    scopus 로고
    • Risk factors for cytogenetically normal holoprosencephaly in California: A population-based case-control study
    • Croen LA, Shaw GM, Lammer EJ (2000) Risk factors for cytogenetically normal holoprosencephaly in California: A population-based case-control study. Am J Med Genet 90: 320-325
    • (2000) Am J Med Genet , vol.90 , pp. 320-325
    • Croen, L.A.1    Shaw, G.M.2    Lammer, E.J.3
  • 27
    • 0032963512 scopus 로고    scopus 로고
    • Differential patterning of ventral midline cells by axial mesoderm is regulated by BMP7 and chordin
    • Dale K, Sattar N, Heemskerk J, Clarke JD, Placzek M, Dodd J (1999) Differential patterning of ventral midline cells by axial mesoderm is regulated by BMP7 and chordin. Development 126:397-408
    • (1999) Development , vol.126 , pp. 397-408
    • Dale, K.1    Sattar, N.2    Heemskerk, J.3    Clarke, J.D.4    Placzek, M.5    Dodd, J.6
  • 28
    • 0030840943 scopus 로고    scopus 로고
    • Cooperation of BMP7 and SHH in the induction of forebrain ventral midline cells by prechordal mesoderm
    • Dale JK, Vesque C, Lints TJ, Sampath TK, Furley A, Dodd J, Placzek M (1997) Cooperation of BMP7 and SHH in the induction of forebrain ventral midline cells by prechordal mesoderm. Cell 90:257-269
    • (1997) Cell , vol.90 , pp. 257-269
    • Dale, J.K.1    Vesque, C.2    Lints, T.J.3    Sampath, T.K.4    Furley, A.5    Dodd, J.6    Placzek, M.7
  • 31
    • 0033799531 scopus 로고    scopus 로고
    • Modifier genes convert "simple" Mendelian disorders to complex traits
    • Dipple KM, McCabe ER (2000a) Modifier genes convert "simple" Mendelian disorders to complex traits. Mol Genet Metab 71:43-50
    • (2000) Mol Genet Metab , vol.71 , pp. 43-50
    • Dipple, K.M.1    McCabe, E.R.2
  • 32
    • 0033911995 scopus 로고    scopus 로고
    • Phenotypes of patients with "simple" Mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics
    • - (2000b) Phenotypes of patients with "simple" Mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics. Am J Hum Genet 66:1729-1735
    • (2000) Am J Hum Genet , vol.66 , pp. 1729-1735
  • 33
    • 0034788710 scopus 로고    scopus 로고
    • Consequences of complexity within biological networks: Robustness and health, or vulnerability and disease
    • Dipple KM, Phelan JK, McCabe ER (2001) Consequences of complexity within biological networks: Robustness and health, or vulnerability and disease. Mol Genet Metab 74: 45-50
    • (2001) Mol Genet Metab , vol.74 , pp. 45-50
    • Dipple, K.M.1    Phelan, J.K.2    McCabe, E.R.3
  • 36
    • 0037029395 scopus 로고    scopus 로고
    • Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease
    • Fitze G, Cramer J, Ziegler A, Schierz M, Schreiber M, Kuhlisch E, Roesner D, Schackert HK (2002) Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease. Lancet 359:1200-1205
    • (2002) Lancet , vol.359 , pp. 1200-1205
    • Fitze, G.1    Cramer, J.2    Ziegler, A.3    Schierz, M.4    Schreiber, M.5    Kuhlisch, E.6    Roesner, D.7    Schackert, H.K.8
  • 38
    • 0033365396 scopus 로고    scopus 로고
    • Digenic junctional epidermolysis bullosa: Mutations in COL17A1 and LAMB3 genes
    • Floeth M, Bruckner-Tuderman L (1999) Digenic junctional epidermolysis bullosa: Mutations in COL17A1 and LAMB3 genes. Am J Hum Genet 65:1530-1537
    • (1999) Am J Hum Genet , vol.65 , pp. 1530-1537
    • Floeth, M.1    Bruckner-Tuderman, L.2
  • 39
    • 0033514957 scopus 로고    scopus 로고
    • Ectopic bone morphogenetic proteins 5 and 4 in the chicken forebrain leads to cyclopia and holoprosencephaly
    • Golden J, Bracilovic A, McFadden K, Beesley J, Rubenstein J, Grinspan J (1999) Ectopic bone morphogenetic proteins 5 and 4 in the chicken forebrain leads to cyclopia and holoprosencephaly. Proc Natl Acad Sci USA 96:2439-2444
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 2439-2444
    • Golden, J.1    Bracilovic, A.2    McFadden, K.3    Beesley, J.4    Rubenstein, J.5    Grinspan, J.6
  • 42
    • 0000729228 scopus 로고
    • The relative importance of principal and modifying genes in determining some human diseases
    • Haldane J (1941) The relative importance of principal and modifying genes in determining some human diseases. J Genet 41:149-157
    • (1941) J Genet , vol.41 , pp. 149-157
    • Haldane, J.1
  • 44
    • 0035830860 scopus 로고    scopus 로고
    • Principles for the buffering of genetic variation
    • Hartman JL, Garvik B, Hartwell L (2001) Principles for the buffering of genetic variation. Science 291:1001-1004
    • (2001) Science , vol.291 , pp. 1001-1004
    • Hartman, J.L.1    Garvik, B.2    Hartwell, L.3
  • 45
    • 0031193875 scopus 로고    scopus 로고
    • Sonic hedgehog participates in craniofacial morphogenesis and is down-regulated by teratogenic doses of retinoic acid
    • Helms JA, Kim CH, Hu D, Minkoff R, Thaller C, Eichele G (1997) Sonic hedgehog participates in craniofacial morphogenesis and is down-regulated by teratogenic doses of retinoic acid. Dev Biol 187:25-35
    • (1997) Dev Biol , vol.187 , pp. 25-35
    • Helms, J.A.1    Kim, C.H.2    Hu, D.3    Minkoff, R.4    Thaller, C.5    Eichele, G.6
  • 46
    • 0035221937 scopus 로고    scopus 로고
    • Otx2 and HNF3beta genetically interact in anterior patterning
    • Jin O, Harpal K, Ang SL, Rossant J (2001) Otx2 and HNF3beta genetically interact in anterior patterning. Int J Dev Biol 45:357-365
    • (2001) Int J Dev Biol , vol.45 , pp. 357-365
    • Jin, O.1    Harpal, K.2    Ang, S.L.3    Rossant, J.4
  • 48
    • 0028245437 scopus 로고
    • Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
    • Kajiwara K, Berson EL, Dryja TP (1994) Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 264:1604-1608
    • (1994) Science , vol.264 , pp. 1604-1608
    • Kajiwara, K.1    Berson, E.L.2    Dryja, T.P.3
  • 51
    • 0014245807 scopus 로고
    • Teratogenic compounds of Veratrum californicum (Durand). V. Comparison of cyclopian effects of steroidal alkaloids from the plant and structurally related compounds from other sources
    • Keeler RF, Binns W (1968) Teratogenic compounds of Veratrum californicum (Durand). V. Comparison of cyclopian effects of steroidal alkaloids from the plant and structurally related compounds from other sources. Teratology 1:5-10
    • (1968) Teratology , vol.1 , pp. 5-10
    • Keeler, R.F.1    Binns, W.2
  • 54
    • 0030029420 scopus 로고    scopus 로고
    • Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa
    • Kivirikko S, McGrath JA, Pulkkinen L, Uitto J, Christiano AM (1996) Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Hum Mol Genet 5:231-237
    • (1996) Hum Mol Genet , vol.5 , pp. 231-237
    • Kivirikko, S.1    McGrath, J.A.2    Pulkkinen, L.3    Uitto, J.4    Christiano, A.M.5
  • 55
    • 85007198236 scopus 로고    scopus 로고
    • The mouse organizer and its secreted factors Chordin and Noggin are unnecessary for anterior-posterior axis formation but are required for head development
    • Klingensmith J, Stottmann R, Nordgren A, Anderson R (2001) The mouse organizer and its secreted factors Chordin and Noggin are unnecessary for anterior-posterior axis formation but are required for head development. Dev Biol 235: 283
    • (2001) Dev Biol , vol.235 , pp. 283
    • Klingensmith, J.1    Stottmann, R.2    Nordgren, A.3    Anderson, R.4
  • 57
    • 0033822536 scopus 로고    scopus 로고
    • Autosomal dominant polycystic kidney disease: Molecular genetics and molecular pathogenesis
    • Koptides M, Deltas CC (2000) Autosomal dominant polycystic kidney disease: Molecular genetics and molecular pathogenesis. Hum Genet 107:115-126
    • (2000) Hum Genet , vol.107 , pp. 115-126
    • Koptides, M.1    Deltas, C.C.2
  • 59
    • 0035513485 scopus 로고    scopus 로고
    • A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews
    • Lerer I, Sagi M, Ben-Neriah Z, Wang T, Levi H, Abeliovich D (2001) A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews. Hum Mutat 18:460
    • (2001) Hum Mutat , vol.18 , pp. 460
    • Lerer, I.1    Sagi, M.2    Ben-Neriah, Z.3    Wang, T.4    Levi, H.5    Abeliovich, D.6
  • 60
    • 0035933756 scopus 로고    scopus 로고
    • Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa
    • Loewen CJ, Moritz OL, Molday RS (2001) Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa. J Biol Chem 276: 22388-22396
    • (2001) J Biol Chem , vol.276 , pp. 22388-22396
    • Loewen, C.J.1    Moritz, O.L.2    Molday, R.S.3
  • 61
    • 0034672716 scopus 로고    scopus 로고
    • Cholesterol modification of proteins
    • Mann RK, Beachy PA (2000) Cholesterol modification of proteins. Biochim Biophys Acta 1529:188-202
    • (2000) Biochim Biophys Acta , vol.1529 , pp. 188-202
    • Mann, R.K.1    Beachy, P.A.2
  • 63
    • 0017741766 scopus 로고
    • Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases
    • Matsunaga E, Shiota K (1977) Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases. Teratology 16: 261-272
    • (1977) Teratology , vol.16 , pp. 261-272
    • Matsunaga, E.1    Shiota, K.2
  • 64
    • 0037029388 scopus 로고    scopus 로고
    • Hirschsprung's disease: Dissecting complexity in a pathogenetic network
    • McCabe ER (2002) Hirschsprung's disease: Dissecting complexity in a pathogenetic network. Lancet 359:1169-1170
    • (2002) Lancet , vol.359 , pp. 1169-1170
    • McCabe, E.R.1
  • 65
    • 0029121987 scopus 로고
    • Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
    • McGrath JA, Gatalica B, Christiano AM, Li K, Owaribe K, McMillan JR, Eady RA, Uitto J (1995) Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet 11: 83-86
    • (1995) Nat Genet , vol.11 , pp. 83-86
    • McGrath, J.A.1    Gatalica, B.2    Christiano, A.M.3    Li, K.4    Owaribe, K.5    McMillan, J.R.6    Eady, R.A.7    Uitto, J.8
  • 67
    • 0031944805 scopus 로고    scopus 로고
    • Holoprosencephaly: From Homer to Hedgehog
    • Ming JE, Muenke M (1998) Holoprosencephaly: From Homer to Hedgehog. Clin Genet 53:155-163
    • (1998) Clin Genet , vol.53 , pp. 155-163
    • Ming, J.E.1    Muenke, M.2
  • 68
    • 0031816611 scopus 로고    scopus 로고
    • Human developmental disorders and the Sonic Hedgehog pathway
    • Ming JE, Roessler E, Muenke M (1998) Human developmental disorders and the Sonic Hedgehog pathway. Mol Med Today 4:343-349
    • (1998) Mol Med Today , vol.4 , pp. 343-349
    • Ming, J.E.1    Roessler, E.2    Muenke, M.3
  • 69
    • 0035910569 scopus 로고    scopus 로고
    • Molecular properties of Zic proteins as transcriptional regulators and their relationship to GLI proteins
    • Mizugishi K, Aruga J, Nakata K, Mikoshiba K (2001) Molecular properties of Zic proteins as transcriptional regulators and their relationship to GLI proteins. J Biol Chem 276: 2180-2188
    • (2001) J Biol Chem , vol.276 , pp. 2180-2188
    • Mizugishi, K.1    Aruga, J.2    Nakata, K.3    Mikoshiba, K.4
  • 70
    • 0030979154 scopus 로고    scopus 로고
    • Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)
    • Morell R, Spritz RA, Ho L, Pierpont J, Guo W, Friedman TB, Asher JH Jr (1997) Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum Mol Genet 6:659-664
    • (1997) Hum Mol Genet , vol.6 , pp. 659-664
    • Morell, R.1    Spritz, R.A.2    Ho, L.3    Pierpont, J.4    Guo, W.5    Friedman, T.B.6    Asher, J.H.7
  • 71
    • 0001373955 scopus 로고    scopus 로고
    • Holoprosencephaly
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds). McGraw-Hill, New York
    • Muenke M, Beachy PA (2001) Holoprosencephaly. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic & Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp 6203-6230
    • (2001) The Metabolic & Molecular Bases of Inherited Disease , pp. 6203-6230
    • Muenke, M.1    Beachy, P.A.2
  • 75
    • 0035287508 scopus 로고    scopus 로고
    • Modifier genes in mice and humans
    • Nadeau JH (2001) Modifier genes in mice and humans. Nat Rev Genet 21:65-174
    • (2001) Nat Rev Genet , vol.21 , pp. 65-174
    • Nadeau, J.H.1
  • 76
    • 0031568805 scopus 로고    scopus 로고
    • The expression of the mouse Zic1, Zic2, and Zic3 gene suggests an essential role for Zic genes in body pattern formation
    • Nagai T, Aruga J, Takada S, Gunther T, Sporle R, Schughart K, Mikoshiba K (1997) The expression of the mouse Zic1, Zic2, and Zic3 gene suggests an essential role for Zic genes in body pattern formation. Dev Biol 182:299-313
    • (1997) Dev Biol , vol.182 , pp. 299-313
    • Nagai, T.1    Aruga, J.2    Takada, S.3    Gunther, T.4    Sporle, R.5    Schughart, K.6    Mikoshiba, K.7
  • 78
    • 0035934018 scopus 로고    scopus 로고
    • SHH mutation is associated with solitary median maxillary central incisor: A study of 13 patients and review of the literature
    • Nanni L, Ming JE, Du Y, Hall RK, Aldred M, Bankier A, Muenke M (2001) SHH mutation is associated with solitary median maxillary central incisor: A study of 13 patients and review of the literature. Am J Med Genet 102:1-10
    • (2001) Am J Med Genet , vol.102 , pp. 1-10
    • Nanni, L.1    Ming, J.E.2    Du, Y.3    Hall, R.K.4    Aldred, M.5    Bankier, A.6    Muenke, M.7
  • 80
    • 0032565859 scopus 로고    scopus 로고
    • Smad2 role in mesoderm formation, left-right patterning and craniofacial development
    • Nomura M, Li E (1998) Smad2 role in mesoderm formation, left-right patterning and craniofacial development. Nature 393:786-790
    • (1998) Nature , vol.393 , pp. 786-790
    • Nomura, M.1    Li, E.2
  • 82
    • 0033739538 scopus 로고    scopus 로고
    • Genetics of Hirschsprung disease
    • Parisi MA, Kapur RP (2000) Genetics of Hirschsprung disease. Curr Opin Pediatr 12:610-617
    • (2000) Curr Opin Pediatr , vol.12 , pp. 610-617
    • Parisi, M.A.1    Kapur, R.P.2
  • 84
    • 0032925294 scopus 로고    scopus 로고
    • Hershey heaven and Caenorhabditis elegans
    • Plasterk RH (1999) Hershey heaven and Caenorhabditis elegans. Nat Genet 21:63-64
    • (1999) Nat Genet , vol.21 , pp. 63-64
    • Plasterk, R.H.1
  • 85
    • 0029844192 scopus 로고    scopus 로고
    • Cholesterol modification of hedgehog signaling proteins in animal development
    • Porter JA, Young KE, Beachy PA (1996) Cholesterol modification of hedgehog signaling proteins in animal development. Science 274:255-259
    • (1996) Science , vol.274 , pp. 255-259
    • Porter, J.A.1    Young, K.E.2    Beachy, P.A.3
  • 89
    • 0031821546 scopus 로고    scopus 로고
    • Holoprosencephaly: A paradigm for the complex genetics fo brain development
    • Roessler E, Muenke M (1998) Holoprosencephaly: A paradigm for the complex genetics fo brain development. J Inherit Metab Dis 21:481-497
    • (1998) J Inherit Metab Dis , vol.21 , pp. 481-497
    • Roessler, E.1    Muenke, M.2
  • 90
    • 0025886851 scopus 로고
    • Holoprosencephaly as a possible embryonic alcohol effect
    • Ronen GM, Andrews WL (1991) Holoprosencephaly as a possible embryonic alcohol effect. Am J Med Genet 40:151-154
    • (1991) Am J Med Genet , vol.40 , pp. 151-154
    • Ronen, G.M.1    Andrews, W.L.2
  • 91
    • 0018411725 scopus 로고
    • Teratogenic action and embryo lethality of AY 9944R: Prevention by a hypercholesterolemia-provoking diet
    • Roux C, Horvath C, Dupuis R (1979) Teratogenic action and embryo lethality of AY 9944R: Prevention by a hypercholesterolemia-provoking diet. Teratology 19:35-38
    • (1979) Teratology , vol.19 , pp. 35-38
    • Roux, C.1    Horvath, C.2    Dupuis, R.3
  • 95
    • 0035427227 scopus 로고    scopus 로고
    • Axis formation and patterning in zebrafish
    • Schier AF (2001) Axis formation and patterning in zebrafish. Curr Opin Genet Dev 11:393-404
    • (2001) Curr Opin Genet Dev , vol.11 , pp. 393-404
    • Schier, A.F.1
  • 97
    • 0031040286 scopus 로고    scopus 로고
    • The one-eyed pinhead gene functions in mesoderm and endoderm formation in zebrafish and interacts with no tail
    • Schier AF, Neuhauss SC, Helde KA, Talbot WS, Driever W (1997) The one-eyed pinhead gene functions in mesoderm and endoderm formation in zebrafish and interacts with no tail. Development 124:327-342
    • (1997) Development , vol.124 , pp. 327-342
    • Schier, A.F.1    Neuhauss, S.C.2    Helde, K.A.3    Talbot, W.S.4    Driever, W.5
  • 98
    • 0034921830 scopus 로고    scopus 로고
    • Local retinoid signaling coordinates forebrain and facial morphogenesis by maintaining FGF8 and SHH
    • Schneider RA, Hu D, Rubenstein JL, Maden M, Helms JA (2001) Local retinoid signaling coordinates forebrain and facial morphogenesis by maintaining FGF8 and SHH. Development 128:2755-2767
    • (2001) Development , vol.128 , pp. 2755-2767
    • Schneider, R.A.1    Hu, D.2    Rubenstein, J.L.3    Maden, M.4    Helms, J.A.5
  • 99
    • 0036089031 scopus 로고    scopus 로고
    • Why mutation analysis does not always predict clinical consequences: Explanations in the era of genomics
    • Scriver CR (2002) Why mutation analysis does not always predict clinical consequences: Explanations in the era of genomics. J Pediatr 140:502-506
    • (2002) J Pediatr , vol.140 , pp. 502-506
    • Scriver, C.R.1
  • 100
    • 0033168957 scopus 로고    scopus 로고
    • Monogenic traits are not simple: Lessons from phenylketonuria
    • Scriver CR, Waters PJ (1999) Monogenic traits are not simple: Lessons from phenylketonuria. Trends Genet 15:267-272
    • (1999) Trends Genet , vol.15 , pp. 267-272
    • Scriver, C.R.1    Waters, P.J.2
  • 104
    • 0033198507 scopus 로고    scopus 로고
    • The type II activin receptors are essential for egg cylinder growth, gastrulation, and rostral head development in mice
    • Song J, Oh SP, Schrewe H, Nomura M, Lei H, Okano M, Gridley T, Li E (1999) The type II activin receptors are essential for egg cylinder growth, gastrulation, and rostral head development in mice. Dev Biol 213:157-169
    • (1999) Dev Biol , vol.213 , pp. 157-169
    • Song, J.1    Oh, S.P.2    Schrewe, H.3    Nomura, M.4    Lei, H.5    Okano, M.6    Gridley, T.7    Li, E.8
  • 105
    • 0025294461 scopus 로고
    • Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism
    • Spritz RA, Strunk KM, Giebel LB, King RA (1990) Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. N Engl J Med 322:1724-1728
    • (1990) N Engl J Med , vol.322 , pp. 1724-1728
    • Spritz, R.A.1    Strunk, K.M.2    Giebel, L.B.3    King, R.A.4
  • 107
    • 0030942553 scopus 로고    scopus 로고
    • Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21
    • Stoilov I, Akarsu AN, Sarfarazi M (1997) Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 6:641-647
    • (1997) Hum Mol Genet , vol.6 , pp. 641-647
    • Stoilov, I.1    Akarsu, A.N.2    Sarfarazi, M.3
  • 109
    • 0029129462 scopus 로고
    • Teratogenicity of low doses of all-trans retinoic acid in presomite mouse embryos
    • Sulik KK, Dehart DB, Rogers JM, Chernoff N (1995) Teratogenicity of low doses of all-trans retinoic acid in presomite mouse embryos. Teratology 51:398-403
    • (1995) Teratology , vol.51 , pp. 398-403
    • Sulik, K.K.1    Dehart, D.B.2    Rogers, J.M.3    Chernoff, N.4
  • 110
    • 0020330010 scopus 로고
    • Embryonic origin of holoprosencephaly: Interrelationship of the developing brain and face
    • Sulik KK, Johnston MC (1982) Embryonic origin of holoprosencephaly: Interrelationship of the developing brain and face. Scan Electron Microsc:309-322
    • (1982) Scan Electron Microsc , pp. 309-322
    • Sulik, K.K.1    Johnston, M.C.2
  • 112
    • 0027943189 scopus 로고
    • Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene
    • Tassabehji M, Newton VE, Read AP (1994) Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 8:251-255
    • (1994) Nat Genet , vol.8 , pp. 251-255
    • Tassabehji, M.1    Newton, V.E.2    Read, A.P.3
  • 115
    • 0033803952 scopus 로고    scopus 로고
    • Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways
    • Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD (2000) Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab 71:10-18
    • (2000) Mol Genet Metab , vol.71 , pp. 10-18
    • Vockley, J.1    Rinaldo, P.2    Bennett, M.J.3    Matern, D.4    Vladutiu, G.D.5
  • 122
    • 0033515620 scopus 로고    scopus 로고
    • A Smad transcriptional corepressor
    • Wotton D, Lo R, Lee S, Massague J (1999) A Smad transcriptional corepressor. Cell 97:29-39
    • (1999) Cell , vol.97 , pp. 29-39
    • Wotton, D.1    Lo, R.2    Lee, S.3    Massague, J.4
  • 123
    • 0032559307 scopus 로고    scopus 로고
    • Positional cloning identifies zebrafishone-eyed pinhead as a permissive EGF-related ligand required during gastrulation
    • Zhang J, Talbot WS, Schier AF (1998) Positional cloning identifies zebrafishone-eyed pinhead as a permissive EGF-related ligand required during gastrulation. Cell 92:241-251
    • (1998) Cell , vol.92 , pp. 241-251
    • Zhang, J.1    Talbot, W.S.2    Schier, A.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.