메뉴 건너뛰기




Volumn 9, Issue 1, 1998, Pages 38-53

Neural tube and craniofacial defects with special emphasis on folate pathway genes

Author keywords

Birth defects; Folic acid; Genetic susceptibility

Indexed keywords

FOLIC ACID; MULTIVITAMIN;

EID: 0031754258     PISSN: 10454411     EISSN: None     Source Type: Journal    
DOI: 10.1177/10454411980090010201     Document Type: Review
Times cited : (82)

References (158)
  • 1
    • 0026545612 scopus 로고
    • Potocytosis: Sequestration and transport of small molecules by caveolae
    • Anderson RGW, Kamen BA, Rothberg KG, Lacey SW (1992). Potocytosis: sequestration and transport of small molecules by caveolae. Science 255:410-411.
    • (1992) Science , vol.255 , pp. 410-411
    • Anderson, R.G.W.1    Kamen, B.A.2    Rothberg, K.G.3    Lacey, S.W.4
  • 2
    • 0026652116 scopus 로고
    • Biological chemistry of folate receptors
    • Antony AC (1992). Biological chemistry of folate receptors. Blood 79:2807-2820.
    • (1992) Blood , vol.79 , pp. 2807-2820
    • Antony, A.C.1
  • 3
    • 0022358451 scopus 로고
    • Studies of the role of a particulate folatebinding protein in the uptake of 5-methyltetrahydrofolate by cultured human KB cells
    • Antony AC, Kane MA, Portillo RM, Elwood PC, Kolhouse JF (1985). Studies of the role of a particulate folatebinding protein in the uptake of 5-methyltetrahydrofolate by cultured human KB cells. J Biol Chem 260:14911-14917.
    • (1985) J Biol Chem , vol.260 , pp. 14911-14917
    • Antony, A.C.1    Kane, M.A.2    Portillo, R.M.3    Elwood, P.C.4    Kolhouse, J.F.5
  • 4
  • 5
    • 0027503126 scopus 로고
    • Internalization and intracellular transport of folate-binding protein in rat kidney proximal tubule
    • Birn H, Selhub I, Christensen EI (1993). Internalization and intracellular transport of folate-binding protein in rat kidney proximal tubule. Am J Physiol 264:C302-C310.
    • (1993) Am J Physiol , vol.264
    • Birn, H.1    Selhub, I.2    Christensen, E.I.3
  • 7
    • 0024385912 scopus 로고
    • Dietary folate as a risk factor for neural-tube defects: Evidence from a case-control study in Western Australia
    • Bower C, Stanley FJ (1989). Dietary folate as a risk factor for neural-tube defects: evidence from a case-control study in Western Australia. Med J Aust 5:613-619.
    • (1989) Med J Aust , vol.5 , pp. 613-619
    • Bower, C.1    Stanley, F.J.2
  • 8
    • 0017012308 scopus 로고
    • Vitamin supplemental as a possible factor decreasing the incidence of cleft lip/palate deformities in humans
    • Briggs RM (1976). Vitamin supplemental as a possible factor decreasing the incidence of cleft lip/palate deformities in humans. Clin Plast Surg 3:647-652.
    • (1976) Clin Plast Surg , vol.3 , pp. 647-652
    • Briggs, R.M.1
  • 9
    • 0025952140 scopus 로고
    • Characterization of two cDNAs encoding folate-binding proteins from L1210 murine leukemia cells. Increased expression associated with a genomic rearrangement
    • Brigle KE, Westin EH, Houghton MT, Goldman ID (1991). Characterization of two cDNAs encoding folate-binding proteins from L1210 murine leukemia cells. Increased expression associated with a genomic rearrangement. J Biol Chem 266:17243-17249.
    • (1991) J Biol Chem , vol.266 , pp. 17243-17249
    • Brigle, K.E.1    Westin, E.H.2    Houghton, M.T.3    Goldman, I.D.4
  • 10
    • 0028111514 scopus 로고
    • Increased expression and genomic organization of a folate binding protein homologous to the human placental isoform in L1210 murine leukemia cell lines with a defective reduced folate carrier
    • Brigle KE, Seither RL, Westin EH, Goldman ID (1994a). Increased expression and genomic organization of a folate binding protein homologous to the human placental isoform in L1210 murine leukemia cell lines with a defective reduced folate carrier. J Biol Chem 269:4267-4272.
    • (1994) J Biol Chem , vol.269 , pp. 4267-4272
    • Brigle, K.E.1    Seither, R.L.2    Westin, E.H.3    Goldman, I.D.4
  • 11
    • 0028008481 scopus 로고
    • Increased expression and characterization of two distinct folate binding proteins in murine erythroleukemia cells
    • Brigle KE, Spinell MJ, Westin EH, Goldman ID (1994b). Increased expression and characterization of two distinct folate binding proteins in murine erythroleukemia cells. Biochem Pharmacol 47:337-345.
    • (1994) Biochem Pharmacol , vol.47 , pp. 337-345
    • Brigle, K.E.1    Spinell, M.J.2    Westin, E.H.3    Goldman, I.D.4
  • 12
    • 0029151314 scopus 로고
    • Characterization of a mutation in the reduced folate carrier in a transport defective L1210 murine leukemia cell line
    • Brigle KE, Spinella MF, Sierra EE, Goldman ID (1995). Characterization of a mutation in the reduced folate carrier in a transport defective L1210 murine leukemia cell line. J Biol Chem 270:22974-22979.
    • (1995) J Biol Chem , vol.270 , pp. 22974-22979
    • Brigle, K.E.1    Spinella, M.F.2    Sierra, E.E.3    Goldman, I.D.4
  • 13
    • 0025949661 scopus 로고
    • Folate-binding protein is a marker for ovarian cancer
    • Campbell IG, Jones T, Foulkes WD, et al. (1991). Folate-binding protein is a marker for ovarian cancer. Cancer Res 51:5329-5338.
    • (1991) Cancer Res , vol.51 , pp. 5329-5338
    • Campbell, I.G.1    Jones, T.2    Foulkes, W.D.3
  • 14
    • 0022919056 scopus 로고
    • Neural tube defects: A review of human and animal studies on the etiology of neural tube defects
    • Campbell LR, Dayton DH, Sohel GS (1986). Neural tube defects: a review of human and animal studies on the etiology of neural tube defects. Teratology 22:171-187.
    • (1986) Teratology , vol.22 , pp. 171-187
    • Campbell, L.R.1    Dayton, D.H.2    Sohel, G.S.3
  • 15
    • 0025762595 scopus 로고
    • Further evidence for an association between genetic variation in transforming growth factor alpha and cleft lip and palate
    • Chenevix-Trench G, Jones K, Green A, Martin N (1991). Further evidence for an association between genetic variation in transforming growth factor alpha and cleft lip and palate. Am J Hum Genet 48:1012-1013.
    • (1991) Am J Hum Genet , vol.48 , pp. 1012-1013
    • Chenevix-Trench, G.1    Jones, K.2    Green, A.3    Martin, N.4
  • 16
    • 0026620226 scopus 로고
    • Cleft lip with or without palate: Associations with the transforming growth factor alpha and retinoic acid receptor loci
    • Chenevix-Trench G, Jones K, Green A, Duffy D, Martin N (1992). Cleft lip with or without palate: associations with the transforming growth factor alpha and retinoic acid receptor loci. Am J Hum Genet 51:1377-385.
    • (1992) Am J Hum Genet , vol.51 , pp. 1377-1385
    • Chenevix-Trench, G.1    Jones, K.2    Green, A.3    Duffy, D.4    Martin, N.5
  • 17
    • 0018092417 scopus 로고
    • The fetal alcohol syndrome
    • Clarren SK, Smith DW (1978). The fetal alcohol syndrome. N Engl J Med 298:1063-1067.
    • (1978) N Engl J Med , vol.298 , pp. 1063-1067
    • Clarren, S.K.1    Smith, D.W.2
  • 18
    • 70449263231 scopus 로고
    • Effect of supplemental vitamin therapy on the limitation of incidence of cleft lip and cleft palate in humans
    • Conway H (1958). Effect of supplemental vitamin therapy on the limitation of incidence of cleft lip and cleft palate in humans. Plast Reconstr Surg 22:450-453.
    • (1958) Plast Reconstr Surg , vol.22 , pp. 450-453
    • Conway, H.1
  • 19
    • 0027298758 scopus 로고
    • Prevention of congenital abnormalities by periconceptional multivitamin supplementation
    • Czeizel AE (1993). Prevention of congenital abnormalities by periconceptional multivitamin supplementation. Br Med J 306:1645-1648.
    • (1993) Br Med J , vol.306 , pp. 1645-1648
    • Czeizel, A.E.1
  • 20
    • 0027080461 scopus 로고
    • Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation
    • Czeizel AE, Dudas I (1992). Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 327:1832-1835.
    • (1992) N Engl J Med , vol.327 , pp. 1832-1835
    • Czeizel, A.E.1    Dudas, I.2
  • 21
    • 0029903683 scopus 로고    scopus 로고
    • Population based case control study of folic acid supplementation during pregnancy
    • Czeizel AE, Toth M, Rockenbauer M (1996). Population based case control study of folic acid supplementation during pregnancy. Teratology 53:345-351.
    • (1996) Teratology , vol.53 , pp. 345-351
    • Czeizel, A.E.1    Toth, M.2    Rockenbauer, M.3
  • 22
    • 0026281619 scopus 로고
    • Parental epilepsy, anticonvulsant drugs, and reproductive outcome: Epidemiologic and experimental findings spanning three decades; 2: human studies
    • Dansky LV, Finnell RH (1991). Parental epilepsy, anticonvulsant drugs, and reproductive outcome: epidemiologic and experimental findings spanning three decades; 2: human studies. Reprod Toxicol 5:301-335.
    • (1991) Reprod Toxicol , vol.5 , pp. 301-335
    • Dansky, L.V.1    Finnell, R.H.2
  • 23
    • 0015359327 scopus 로고
    • Megalocephaly in children: Clinical syndromes, genetic patterns, and differential diagnosis from other causes of megalocephaly
    • DeMeyer W (1972). Megalocephaly in children: Clinical syndromes, genetic patterns, and differential diagnosis from other causes of megalocephaly. Neurology 22:634-643.
    • (1972) Neurology , vol.22 , pp. 634-643
    • DeMeyer, W.1
  • 24
    • 0024418785 scopus 로고
    • Role of the membrane-associated folate binding protein (folate receptor) in methotrexate transport by human KB cells
    • Deutsch JC, Elwood PC, Portillo RM, Macey MG, Kolhouse JF (1989). Role of the membrane-associated folate binding protein (folate receptor) in methotrexate transport by human KB cells. Arch Biochem Biophys 274:327-337.
    • (1989) Arch Biochem Biophys , vol.274 , pp. 327-337
    • Deutsch, J.C.1    Elwood, P.C.2    Portillo, R.M.3    Macey, M.G.4    Kolhouse, J.F.5
  • 25
    • 0027982786 scopus 로고
    • A novel cDNA restores reduced folate carrier activity and methotrexate sensitivity to transport deficient cells
    • Dixon KH, Lanpher BC, Chiu J, Kelley K, Cowan KH (1994). A novel cDNA restores reduced folate carrier activity and methotrexate sensitivity to transport deficient cells. J Biol Chem 269:17-20.
    • (1994) J Biol Chem , vol.269 , pp. 17-20
    • Dixon, K.H.1    Lanpher, B.C.2    Chiu, J.3    Kelley, K.4    Cowan, K.H.5
  • 27
    • 0024415796 scopus 로고
    • Molecular cloning and characterization of the human folate-binding protein cDNA from placenta and malignant tissue culture (KB) cells
    • Elwood PC (1989). Molecular cloning and characterization of the human folate-binding protein cDNA from placenta and malignant tissue culture (KB) cells. J Biol Chem 264:14893-14901.
    • (1989) J Biol Chem , vol.264 , pp. 14893-14901
    • Elwood, P.C.1
  • 28
    • 0022979473 scopus 로고
    • The isolation, characterization, and comparison of the membrane-associated and soluble folate-binding proteins from human KB cells
    • Elwood PC, Kane MA, Portillo RM, Kolhouse JF (1986). The isolation, characterization, and comparison of the membrane-associated and soluble folate-binding proteins from human KB cells. J Biol Chem 261:15416-15423.
    • (1986) J Biol Chem , vol.261 , pp. 15416-15423
    • Elwood, P.C.1    Kane, M.A.2    Portillo, R.M.3    Kolhouse, J.F.4
  • 29
    • 0015799999 scopus 로고
    • The further epidemiological differentiation of cleft lip and palate: A population study of cleft in King County, Washington 1956-1965
    • Emanuel I, Culver BH, Erickson JD, Guthrie B, Schuldberg D (1983). The further epidemiological differentiation of cleft lip and palate: A population study of cleft in King County, Washington 1956-1965. Teratology 7:271-281.
    • (1983) Teratology , vol.7 , pp. 271-281
    • Emanuel, I.1    Culver, B.H.2    Erickson, J.D.3    Guthrie, B.4    Schuldberg, D.5
  • 30
    • 0025887682 scopus 로고
    • Biotin derivatives of methotrexate and folate. Synthesis and utilization for affinity purification of two membraneassociated folate transporters from L1210 cells
    • Fan J, Vitols KS, Huennekens FM (1992). Biotin derivatives of methotrexate and folate. Synthesis and utilization for affinity purification of two membraneassociated folate transporters from L1210 cells. J Biol Chem 266:14862-14865.
    • (1992) J Biol Chem , vol.266 , pp. 14862-14865
    • Fan, J.1    Vitols, K.S.2    Huennekens, F.M.3
  • 31
    • 0021695259 scopus 로고
    • Epithelial-mesenchymal interactions during vertebrate palatogenesis
    • Ferguson MJ, Honig LS (1984). Epithelial-mesenchymal interactions during vertebrate palatogenesis. Curr Top Dev Biol 19:137-163.
    • (1984) Curr Top Dev Biol , vol.19 , pp. 137-163
    • Ferguson, M.J.1    Honig, L.S.2
  • 32
    • 0030986598 scopus 로고    scopus 로고
    • Strain dependent alterations in the expression of folate pathway genes following teratogenic exposure to valproic acid in a mouse model
    • in press
    • Finnell RH, Wlodarczyk B, Craig JC, Piedrahita JA, Bennett GD (1997). Strain dependent alterations in the expression of folate pathway genes following teratogenic exposure to valproic acid in a mouse model. Am J Med Genet (in press).
    • (1997) Am J Med Genet
    • Finnell, R.H.1    Wlodarczyk, B.2    Craig, J.C.3    Piedrahita, J.A.4    Bennett, G.D.5
  • 33
    • 0042053391 scopus 로고
    • Genetic and non-genetic factors in the etiology of facial clefts
    • Fogh-Anderson P (1967). Genetic and non-genetic factors in the etiology of facial clefts. Scand J Plast Reconstr Surg 1:22-29.
    • (1967) Scand J Plast Reconstr Surg , vol.1 , pp. 22-29
    • Fogh-Anderson, P.1
  • 34
    • 0014783555 scopus 로고
    • The genetics of cleft lip and palate
    • Fraser FC (1970). The genetics of cleft lip and palate. Am J Hum Genet 22:336-352.
    • (1970) Am J Hum Genet , vol.22 , pp. 336-352
    • Fraser, F.C.1
  • 35
    • 84906415927 scopus 로고
    • Cleft lip and palate: Seasonal incidence, birth weight, birth rank, sex, site, associated malformations and parental age
    • Fraser GR, Calnan IS (1961). Cleft lip and palate: seasonal incidence, birth weight, birth rank, sex, site, associated malformations and parental age. Arch Dis Child 36:420-428.
    • (1961) Arch Dis Child , vol.36 , pp. 420-428
    • Fraser, G.R.1    Calnan, I.S.2
  • 36
    • 0024825774 scopus 로고
    • Folate coenzyme and antifolate transport proteins in normal and neoplastic cells
    • Freisheim JH, Price EM, Ratnam M (1989). Folate coenzyme and antifolate transport proteins in normal and neoplastic cells. Adv Enz Reg 29:13-26.
    • (1989) Adv Enz Reg , vol.29 , pp. 13-26
    • Freisheim, J.H.1    Price, E.M.2    Ratnam, M.3
  • 38
    • 0029049553 scopus 로고
    • A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase
    • Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Mathews RG, et al. (1995). A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genet 10:111-113.
    • (1995) Nature Genet , vol.10 , pp. 111-113
    • Frosst, P.1    Blom, H.J.2    Milos, R.3    Goyette, P.4    Sheppard, C.A.5    Mathews, R.G.6
  • 39
    • 0014690663 scopus 로고
    • Transport energetics of the folic acid analogue, methotrexate, in L1210 leukemia cells. Enhanced accumulation by metabolic inhibitors
    • Goldman ID (1969). Transport energetics of the folic acid analogue, methotrexate, in L1210 leukemia cells. Enhanced accumulation by metabolic inhibitors. J Biol Chem 244:3779-3785.
    • (1969) J Biol Chem , vol.244 , pp. 3779-3785
    • Goldman, I.D.1
  • 40
    • 0015246387 scopus 로고
    • The characteristics of the membrane transport of amethopterin and the naturally occurring folate
    • Goldman ID (1971). The characteristics of the membrane transport of amethopterin and the naturally occurring folate. Ann NY Acad Sci 186:400-422.
    • (1971) Ann NY Acad Sci , vol.186 , pp. 400-422
    • Goldman, I.D.1
  • 41
    • 0014410041 scopus 로고
    • Carriermediated transport of the folic acid analogue, methotrexate, in the L1210 leukemia cell
    • Goldman ID, Lichtenstein NS, Oliverio VT (1968). Carriermediated transport of the folic acid analogue, methotrexate, in the L1210 leukemia cell. J Biol Chem 243:5007-5017.
    • (1968) J Biol Chem , vol.243 , pp. 5007-5017
    • Goldman, I.D.1    Lichtenstein, N.S.2    Oliverio, V.T.3
  • 42
    • 0019455550 scopus 로고
    • Agricultural chemical use and congenital cleft lip and/or palate
    • Gordon JE, Shy CM (1981). Agricultural chemical use and congenital cleft lip and/or palate. Arch Environ Hlth 36:213-221.
    • (1981) Arch Environ Hlth , vol.36 , pp. 213-221
    • Gordon, J.E.1    Shy, C.M.2
  • 44
    • 0027420730 scopus 로고
    • The glucose transport family: Structure, function and tissue-specific expression
    • Gould GW, Holman GD (1993). The glucose transport family: structure, function and tissue-specific expression. Biochem J 295:329-341.
    • (1993) Biochem J , vol.295 , pp. 329-341
    • Gould, G.W.1    Holman, G.D.2
  • 46
    • 0029893565 scopus 로고    scopus 로고
    • Case-control study of periconceptional folic acid supplementation and oral clefts
    • Hayes C, Werler MM, Willett WC, Mitchell AA (1996). Case-control study of periconceptional folic acid supplementation and oral clefts. Am J Epidemiol 143:1229-1234.
    • (1996) Am J Epidemiol , vol.143 , pp. 1229-1234
    • Hayes, C.1    Werler, M.M.2    Willett, W.C.3    Mitchell, A.A.4
  • 47
    • 0021252202 scopus 로고
    • Transport routes utilized by L1210 cells for the influx and efflux of methotrexate
    • Henderson GB, Zevely EM (1984). Transport routes utilized by L1210 cells for the influx and efflux of methotrexate. J Biol Chem 259:1526-1531.
    • (1984) J Biol Chem , vol.259 , pp. 1526-1531
    • Henderson, G.B.1    Zevely, E.M.2
  • 48
    • 0022570759 scopus 로고
    • Characterization of the individual transport routes that mediate the influx and efflux of methotrexate in CCRF-CEM human lymphoblastic cells
    • Henderson GB, Tsuji JM, Kumar HP (1986). Characterization of the individual transport routes that mediate the influx and efflux of methotrexate in CCRF-CEM human lymphoblastic cells. Cancer Res 46:1633-1638.
    • (1986) Cancer Res , vol.46 , pp. 1633-1638
    • Henderson, G.B.1    Tsuji, J.M.2    Kumar, H.P.3
  • 49
    • 0023923392 scopus 로고
    • Mediated uptake of folate by a high-affinity binding protein in sublines of L1210 cells adapted to nanomolar concentrations of folate
    • Henderson GB, Tsujo JM, Kumar HP (1988). Mediated uptake of folate by a high-affinity binding protein in sublines of L1210 cells adapted to nanomolar concentrations of folate. J Membrane Biol 101:247-258.
    • (1988) J Membrane Biol , vol.101 , pp. 247-258
    • Henderson, G.B.1    Tsujo, J.M.2    Kumar, H.P.3
  • 51
    • 0026621245 scopus 로고
    • ABC transporters from microorganisms to man
    • Higgins C (1992). ABC transporters from microorganisms to man. Ann Rev Cell Biol 8:67-113.
    • (1992) Ann Rev Cell Biol , vol.8 , pp. 67-113
    • Higgins, C.1
  • 52
    • 0023942345 scopus 로고
    • Maternal drug histories and congenital malformations: Limb reduction defects and oral clefts
    • Hill L, Murphy M, McDowell M, Paul AH (1988). Maternal drug histories and congenital malformations: limb reduction defects and oral clefts. J Epidemiol Community Hlth 42:1-7.
    • (1988) J Epidemiol Community Hlth , vol.42 , pp. 1-7
    • Hill, L.1    Murphy, M.2    McDowell, M.3    Paul, A.H.4
  • 53
    • 0026763353 scopus 로고
    • Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palate
    • Holder SE, Vintiner GM, Farren B, Malcolm S, Winter RM (1992). Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palate. J Med Genet 29:360-392.
    • (1992) J Med Genet , vol.29 , pp. 360-392
    • Holder, S.E.1    Vintiner, G.M.2    Farren, B.3    Malcolm, S.4    Winter, R.M.5
  • 54
    • 0026049546 scopus 로고
    • High-affinity folate binding in human choroid plexus. Characterization of radioligand binding, immunoreactivity, molecular heterogeneity and hydrophobic domain of the binding protein
    • Holm J, Hansen SI, Hoier-Madsen MI, Bostad L (1991). High-affinity folate binding in human choroid plexus. Characterization of radioligand binding, immunoreactivity, molecular heterogeneity and hydrophobic domain of the binding protein. Biochem J 280:267-271.
    • (1991) Biochem J , vol.280 , pp. 267-271
    • Holm, J.1    Hansen, S.I.2    Hoier-Madsen, M.I.3    Bostad, L.4
  • 56
    • 0017293829 scopus 로고
    • Etiologic heterogeneity of neural-tube defects
    • Holmes LB, Driscoll SG, Atkins L (1976). Etiologic heterogeneity of neural-tube defects. N Engl J Med 294:365-369.
    • (1976) N Engl J Med , vol.294 , pp. 365-369
    • Holmes, L.B.1    Driscoll, S.G.2    Atkins, L.3
  • 57
    • 0026685319 scopus 로고
    • Long term effects of periconceptional multivitamin supplements for prevention of neural tube defects: A seven to ten year follow-up
    • Holmes-Siedle M, Dennis J, Lindenbaum RH, Galliard A (1992). Long term effects of periconceptional multivitamin supplements for prevention of neural tube defects: A seven to ten year follow-up. Arch Dis Child 67: 1436-1441.
    • (1992) Arch Dis Child , vol.67 , pp. 1436-1441
    • Holmes-Siedle, M.1    Dennis, J.2    Lindenbaum, R.H.3    Galliard, A.4
  • 58
    • 0028131474 scopus 로고
    • Topology of the Glut I glucose transporter deduced from glycosylation scanning mutagenesis
    • Hresko RC, Kruse M, Strube M, Mueckler M (1994). Topology of the Glut I glucose transporter deduced from glycosylation scanning mutagenesis. J Biol Chem 269:20482-20488.
    • (1994) J Biol Chem , vol.269 , pp. 20482-20488
    • Hresko, R.C.1    Kruse, M.2    Strube, M.3    Mueckler, M.4
  • 59
    • 0000767282 scopus 로고
    • Brain and spinal cord
    • Stevenson RE, Hall JG, Goodman RM, editors. New York: Oxford University Press
    • Hunter AGW (1993). Brain and spinal cord. In: Human malformations and related anomalies. Stevenson RE, Hall JG, Goodman RM, editors. New York: Oxford University Press, pp. 109-137.
    • (1993) Human Malformations and Related Anomalies , pp. 109-137
    • Hunter, A.G.W.1
  • 61
    • 0017360453 scopus 로고
    • Embryotoxicity of the folate antagonist methotrexate in rats and rabbits
    • Jordan RL, Wilson JG, Schumacher HI (1977). Embryotoxicity of the folate antagonist methotrexate in rats and rabbits. Teratology 15:73-80.
    • (1977) Teratology , vol.15 , pp. 73-80
    • Jordan, R.L.1    Wilson, J.G.2    Schumacher, H.I.3
  • 62
    • 0023683407 scopus 로고
    • Delivery of folates to the cytoplasm of MA104 cells is mediated by a surface membrane receptor that recycles
    • Kamen BA, Wang MT, Streckfuss AJ, Peryea X, Anderson RGW (1988), Delivery of folates to the cytoplasm of MA104 cells is mediated by a surface membrane receptor that recycles. J Biol Chem 263:13602-13609.
    • (1988) J Biol Chem , vol.263 , pp. 13602-13609
    • Kamen, B.A.1    Wang, M.T.2    Streckfuss, A.J.3    Peryea, X.4    Anderson, R.G.W.5
  • 63
    • 0024454538 scopus 로고
    • Regulation of the cytoplasmic accumulation of 5-methyltetrahydrofolate in MA104 cells is independent of folate receptor regulation
    • Kamen BA, Johnson CA, Wang MT, Anderson RGW (1989a). Regulation of the cytoplasmic accumulation of 5-methyltetrahydrofolate in MA104 cells is independent of folate receptor regulation, J Clin Invest 84:1379-1386.
    • (1989) J Clin Invest , vol.84 , pp. 1379-1386
    • Kamen, B.A.1    Johnson, C.A.2    Wang, M.T.3    Anderson, R.G.W.4
  • 64
    • 0023683407 scopus 로고
    • Delivery of folates to the cytoplasm of MA104 cells is mediated by a surface membrane receptor that recycles
    • Kamen BA, Wang MT, Streckfuss AJ, Peryea X, Anderson RGW (1989b). Delivery of folates to the cytoplasm of MA104 cells is mediated by a surface membrane receptor that recycles. J Biol Chem 263:13602-13609.
    • (1989) J Biol Chem , vol.263 , pp. 13602-13609
    • Kamen, B.A.1    Wang, M.T.2    Streckfuss, A.J.3    Peryea, X.4    Anderson, R.G.W.5
  • 65
    • 0025865477 scopus 로고
    • The folate receptor works in tandem with a probenecid-sensitive carrier in MA104 cells in vitro
    • Kamen BA, Smith AK, Anderson RGW (1991). The folate receptor works in tandem with a probenecid-sensitive carrier in MA104 cells in vitro. J Clin Invest 87:1442-1449.
    • (1991) J Clin Invest , vol.87 , pp. 1442-1449
    • Kamen, B.A.1    Smith, A.K.2    Anderson, R.G.W.3
  • 66
    • 0024353318 scopus 로고
    • Biology of disease. Role of folate binding proteins in folate metabolism
    • Kane MA, Waxman S (1989). Biology of disease. Role of folate binding proteins in folate metabolism. Lab Invest 60:737-746.
    • (1989) Lab Invest , vol.60 , pp. 737-746
    • Kane, M.A.1    Waxman, S.2
  • 67
    • 0022621387 scopus 로고
    • The influence of extracellular folate concentration on methotrexate uptake by human KB cells. Partial characterization of a membrane-associated methotrexate binding protein
    • Kane MA, Portillo RM, Elwood PC, Antony AC, Kolhouse JF (1986). The influence of extracellular folate concentration on methotrexate uptake by human KB cells. Partial characterization of a membrane-associated methotrexate binding protein. J Biol Chem 261:44-49.
    • (1986) J Biol Chem , vol.261 , pp. 44-49
    • Kane, M.A.1    Portillo, R.M.2    Elwood, P.C.3    Antony, A.C.4    Kolhouse, J.F.5
  • 68
    • 0027473532 scopus 로고
    • Molecular biology of carrier proteins
    • Kaplan JH (1993). Molecular biology of carrier proteins. Cell 72:13-18.
    • (1993) Cell , vol.72 , pp. 13-18
    • Kaplan, J.H.1
  • 69
    • 0020282677 scopus 로고
    • Etiologic heterogeneity of NTDs. II. Clues from family studies
    • Khoury MJ, Erickson JD, James LM (1982). Etiologic heterogeneity of NTDs. II. Clues from family studies. Am J Hum Genet 34:980-987.
    • (1982) Am J Hum Genet , vol.34 , pp. 980-987
    • Khoury, M.J.1    Erickson, J.D.2    James, L.M.3
  • 70
    • 0020527906 scopus 로고
    • Maternal factors in cleft lip with or without palate: Evidence from interracial crosses in the United States
    • Khoury MJ, Erickson JD, James LM (1983). Maternal factors in cleft lip with or without palate: Evidence from interracial crosses in the United States. Teratology 27:351-357.
    • (1983) Teratology , vol.27 , pp. 351-357
    • Khoury, M.J.1    Erickson, J.D.2    James, L.M.3
  • 71
    • 0024596131 scopus 로고
    • Does maternal cigarette smoking during pregnancy cause cleft lip and palate in offspring?
    • Khoury MJ, Gomez-Farias M, Mulinare J (1989). Does maternal cigarette smoking during pregnancy cause cleft lip and palate in offspring? Am J Dis Child 143:333-337.
    • (1989) Am J Dis Child , vol.143 , pp. 333-337
    • Khoury, M.J.1    Gomez-Farias, M.2    Mulinare, J.3
  • 72
    • 0029800387 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase mutation and neural tube defects
    • Kirke PN, Mills JL, Whitehead AS, Molloy A, Scott JM (1996). Methylenetetrahydrofolate reductase mutation and neural tube defects. Lancet 348:1037-1038.
    • (1996) Lancet , vol.348 , pp. 1037-1038
    • Kirke, P.N.1    Mills, J.L.2    Whitehead, A.S.3    Molloy, A.4    Scott, J.M.5
  • 73
    • 7844234184 scopus 로고
    • Internalization mechanisms
    • Sirotnak FM, Burchall JJ, Ensminger WD, Montgomery JA, editors. Orlando, FL: Academic Press
    • Kisliuk RL (1984). Internalization mechanisms. In: Folate antagonists as therapeutic agents. Vol. 1. Sirotnak FM, Burchall JJ, Ensminger WD, Montgomery JA, editors. Orlando, FL: Academic Press.
    • (1984) Folate Antagonists as Therapeutic Agents , vol.1
    • Kisliuk, R.L.1
  • 74
    • 0024336971 scopus 로고
    • Complementary DNA for the folate binding protein correctly predicts anchoring to the membrane by glycosyl-phosphatidylinositol
    • Lacey SW, Sanders JM, Rothberg KG, Anderson RGW, Kamen BA (1989). Complementary DNA for the folate binding protein correctly predicts anchoring to the membrane by glycosyl-phosphatidylinositol. J Clin Invest 84:715-720.
    • (1989) J Clin Invest , vol.84 , pp. 715-720
    • Lacey, S.W.1    Sanders, J.M.2    Rothberg, K.G.3    Anderson, R.G.W.4    Kamen, B.A.5
  • 76
    • 0019476413 scopus 로고
    • Double-blind randomised controlled trial of folate treatment before conception to prevent recurrence of neural-tube defects
    • Laurence KM, lames N, Miller MH, Tennant GB, Campbell H (1981). Double-blind randomised controlled trial of folate treatment before conception to prevent recurrence of neural-tube defects. Br Med J 282:1509-1511.
    • (1981) Br Med J , vol.282 , pp. 1509-1511
    • Laurence, K.M.1    Lames, N.2    Miller, M.H.3    Tennant, G.B.4    Campbell, H.5
  • 77
    • 0015352265 scopus 로고
    • The etiology of human malformations: Insights from epidemiology
    • Leek I (1972). The etiology of human malformations: insights from epidemiology, Teratology 5:303-314.
    • (1972) Teratology , vol.5 , pp. 303-314
    • Leek, I.1
  • 78
    • 0004292398 scopus 로고
    • Lips and oral cavity
    • Stevenson RE, Hall JG, Goodman RM, editors. New York: Oxford University Press
    • Lettieri J (1993). Lips and oral cavity. In: Human malformations and related anomalies. Stevenson RE, Hall JG, Goodman RM, editors. New York: Oxford University Press, pp. 367-381.
    • (1993) Human Malformations and Related Anomalies , pp. 367-381
    • Lettieri, J.1
  • 79
    • 0030043074 scopus 로고    scopus 로고
    • Bidirectional dideoxy fingerprinting (Bi-ddF): A rapid method for quantitative detection of mutations in genomic regions of 300-600 bp
    • Liu Q, Feng J, Sommer SS (1996). Bidirectional dideoxy fingerprinting (Bi-ddF): a rapid method for quantitative detection of mutations in genomic regions of 300-600 bp. Hum Mol Genet 5:107-114.
    • (1996) Hum Mol Genet , vol.5 , pp. 107-114
    • Liu, Q.1    Feng, J.2    Sommer, S.S.3
  • 80
    • 0025869376 scopus 로고
    • The role of glycosylation in the biosynthesis and acquisition of ligand-binding activity of the folate-binding protein KB cells
    • Luhrs CA (1991). The role of glycosylation in the biosynthesis and acquisition of ligand-binding activity of the folate-binding protein KB cells. Blood 77:1171-1180.
    • (1991) Blood , vol.77 , pp. 1171-1180
    • Luhrs, C.A.1
  • 81
    • 0024791515 scopus 로고
    • A human membrane-associated folate binding protein is anchored by a glycosyl-phosphatidylinositol tail
    • Luhrs CA, Slomiany BL (1989). A human membrane-associated folate binding protein is anchored by a glycosyl-phosphatidylinositol tail. J Biol Chem 264:21446-21449.
    • (1989) J Biol Chem , vol.264 , pp. 21446-21449
    • Luhrs, C.A.1    Slomiany, B.L.2
  • 82
    • 0025863475 scopus 로고
    • Prevention of neural tube defects: Results of the Medical Research Council vitamin study
    • MRC Vitamin Study Research Group (1991). Prevention of neural tube defects: results of the Medical Research Council vitamin study. Lancet 338:131-137.
    • (1991) Lancet , vol.338 , pp. 131-137
  • 83
    • 0027507306 scopus 로고
    • A major superfamily of transmembrane facilitators that catalyze uniport, symport and antiport
    • Marger MD, Saier MH (1993). A major superfamily of transmembrane facilitators that catalyze uniport, symport and antiport. Trends Biochem Sci 18:13-20.
    • (1993) Trends Biochem Sci , vol.18 , pp. 13-20
    • Marger, M.D.1    Saier, M.H.2
  • 84
    • 0026075874 scopus 로고
    • Identification of a highly glycosylated methotrexate membrane carrier in k562 human erythroleukemia cells up-regulated for tetrahydrofolate cofactor and methotrexate transport
    • Matherly LH, Czajkowski CA, Angeles SM (1991). Identification of a highly glycosylated methotrexate membrane carrier in k562 human erythroleukemia cells up-regulated for tetrahydrofolate cofactor and methotrexate transport. Cancer Res 51:3420-3426.
    • (1991) Cancer Res , vol.51 , pp. 3420-3426
    • Matherly, L.H.1    Czajkowski, C.A.2    Angeles, S.M.3
  • 85
    • 0342350467 scopus 로고
    • Distribution of the reduced folate carrier (RFC) versus the high affinity membrane folate binding protein (mFBP) in human tumors and tissues
    • Matherly LH, Wong SC, Angeles SM, Taub JW, Smith GD (1994). Distribution of the reduced folate carrier (RFC) versus the high affinity membrane folate binding protein (mFBP) in human tumors and tissues. Proc Am Assoc Cancer Res 35:307.
    • (1994) Proc Am Assoc Cancer Res , vol.35 , pp. 307
    • Matherly, L.H.1    Wong, S.C.2    Angeles, S.M.3    Taub, J.W.4    Smith, G.D.5
  • 87
    • 0019777280 scopus 로고
    • Enzymatic synthesis and function of folylpolyglutamates
    • McGuire JJ, Bertino JR (1981). Enzymatic synthesis and function of folylpolyglutamates. Mol Cell Biochem 28:19-48.
    • (1981) Mol Cell Biochem , vol.28 , pp. 19-48
    • McGuire, J.J.1    Bertino, J.R.2
  • 88
    • 0026615406 scopus 로고
    • Cleft lip (+cleft palate) etiology: A search for solutions
    • Melnick M (1992). Cleft lip (+cleft palate) etiology: a search for solutions. Am J Med Genet 42:10-14.
    • (1992) Am J Med Genet , vol.42 , pp. 10-14
    • Melnick, M.1
  • 89
    • 0024338237 scopus 로고
    • The absence of a relation between the periconceptional use of vitamins and neural-tube defects
    • Mills JL, Rhoads GG, Simpson JL, et al. (1989). The absence of a relation between the periconceptional use of vitamins and neural-tube defects. N Engl J Med 321:430-435.
    • (1989) N Engl J Med , vol.321 , pp. 430-435
    • Mills, J.L.1    Rhoads, G.G.2    Simpson, J.L.3
  • 90
    • 0028833677 scopus 로고
    • Homocysteine metabolism in pregnancies complicated by neural-tube defects
    • Mills JL, McPartlin JM, Kirke PN, et al. (1995). Homocysteine metabolism in pregnancies complicated by neural-tube defects. Lancet 345:149-151.
    • (1995) Lancet , vol.345 , pp. 149-151
    • Mills, J.L.1    McPartlin, J.M.2    Kirke, P.N.3
  • 91
    • 0029937753 scopus 로고    scopus 로고
    • Homocysteine and neural tube defects
    • Mills JL, Scott JM, Kirke PN, et al. (1996). Homocysteine and neural tube defects. J Nutr 126:756S-760S.
    • (1996) J Nutr , vol.126
    • Mills, J.L.1    Scott, J.M.2    Kirke, P.N.3
  • 92
    • 0024389016 scopus 로고
    • Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects
    • Milunsky A, Jick H, Bruell CL, et al. (1989). Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects. J Am Med Assoc 262:2847-2852.
    • (1989) J Am Med Assoc , vol.262 , pp. 2847-2852
    • Milunsky, A.1    Jick, H.2    Bruell, C.L.3
  • 93
    • 0029147794 scopus 로고
    • Isolation of a gene encoding a human reduced folate carrier (RFC1) and analysis of its expression in transport-deficient methotrexate-resistant human breast cancer cells
    • Moscow JA, Gong M, He R, et al. (1995). Isolation of a gene encoding a human reduced folate carrier (RFC1) and analysis of its expression in transport-deficient methotrexate-resistant human breast cancer cells. Cancer Res 55:3790-3794.
    • (1995) Cancer Res , vol.55 , pp. 3790-3794
    • Moscow, J.A.1    Gong, M.2    He, R.3
  • 94
    • 0023791890 scopus 로고
    • Periconceptional use of multivitamins and the occurrence of neural tube defects
    • Mulinare J, Cordero JF, Erickson JD, et al. (1988). Periconceptional use of multivitamins and the occurrence of neural tube defects, J Am Med Assoc 260:3141-3145.
    • (1988) J Am Med Assoc , vol.260 , pp. 3141-3145
    • Mulinare, J.1    Cordero, J.F.2    Erickson, J.D.3
  • 95
    • 0023177549 scopus 로고
    • Studies in neural tube defects. 1. Epidemiolgic and etiologic aspects
    • Myrianthopoulos NC, Melnick M (1987). Studies in neural tube defects. 1. Epidemiolgic and etiologic aspects. Am J Med Genet 26:783-796.
    • (1987) Am J Med Genet , vol.26 , pp. 783-796
    • Myrianthopoulos, N.C.1    Melnick, M.2
  • 96
    • 0002205882 scopus 로고
    • Teratogenic effects of pteroylglutamic acid deficiency in the rat
    • Nelson MM (1960). Teratogenic effects of pteroylglutamic acid deficiency in the rat. Ciba Found Symp Cong Malfs pp. 134-157.
    • (1960) Ciba Found Symp Cong Malfs , pp. 134-157
    • Nelson, M.M.1
  • 97
    • 0001448730 scopus 로고
    • Production of multiple congenital abnormalities in young by maternal pteroylglutamic acid deficiency during gestation
    • Nelson MM, Asling CW, Evans HM (1952). Production of multiple congenital abnormalities in young by maternal pteroylglutamic acid deficiency during gestation. J Nutr 48:61-80.
    • (1952) J Nutr , vol.48 , pp. 61-80
    • Nelson, M.M.1    Asling, C.W.2    Evans, H.M.3
  • 98
    • 0026316033 scopus 로고
    • Cell movements and control of patterned tissue assembly during craniofacial development
    • Noden DM (1991). Cell movements and control of patterned tissue assembly during craniofacial development. J Craniofac Genet Dev Biol 11:192-213.
    • (1991) J Craniofac Genet Dev Biol , vol.11 , pp. 192-213
    • Noden, D.M.1
  • 99
    • 0028872323 scopus 로고
    • Agricultural work during pregnancy and selected structural malformations in Finland
    • Nurminen T, Rantala K, Kurppa K, Holmberg PC (1995). Agricultural work during pregnancy and selected structural malformations in Finland. Epidemiol 6:23-30.
    • (1995) Epidemiol , vol.6 , pp. 23-30
    • Nurminen, T.1    Rantala, K.2    Kurppa, K.3    Holmberg, P.C.4
  • 100
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita MY, Suzuki Y, Sekiya T, Hayashi K (1989). Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-879.
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.Y.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 101
    • 0025049308 scopus 로고
    • DNA sequence polymorphism in Alu repeats
    • Orita MY, Sekiya T, Hayashi K (1990). DNA sequence polymorphism in Alu repeats. Genomics 8:271-278.
    • (1990) Genomics , vol.8 , pp. 271-278
    • Orita, M.Y.1    Sekiya, T.2    Hayashi, K.3
  • 102
    • 0028850829 scopus 로고
    • Identification of a point mutation in the folate receptor gene that confers a dominant negative phenotype
    • Orr RB, Kamen BA (1995). Identification of a point mutation in the folate receptor gene that confers a dominant negative phenotype. Cancer Res 55:847-852.
    • (1995) Cancer Res , vol.55 , pp. 847-852
    • Orr, R.B.1    Kamen, B.A.2
  • 103
    • 0030018760 scopus 로고    scopus 로고
    • 5,10-methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects
    • Ou CY, Stevenson RE, Brown VK, Schwartz CE, Allen WP, Khoury MJ, et al. (1996). 5,10-methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet 63:610-614.
    • (1996) Am J Med Genet , vol.63 , pp. 610-614
    • Ou, C.Y.1    Stevenson, R.E.2    Brown, V.K.3    Schwartz, C.E.4    Allen, W.P.5    Khoury, M.J.6
  • 104
    • 0027417620 scopus 로고
    • Expression of the human placental folate receptor transcript is regula-ted in human tissues: Organization and full nucleotide sequence of the gene
    • Page ST, Owen WC, Price K, Elwood PC (1993). Expression of the human placental folate receptor transcript is regula-ted in human tissues: organization and full nucleotide sequence of the gene. J Mol Biol 229:1173-1183.
    • (1993) J Mol Biol , vol.229 , pp. 1173-1183
    • Page, S.T.1    Owen, W.C.2    Price, K.3    Elwood, P.C.4
  • 105
    • 0029886679 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase genetic polymorphism as a risk for neural tube defects
    • Papapetrou C, Lynch SA, Burn J, Edwards YH (1996). Methylenetetrahydrofolate reductase genetic polymorphism as a risk for neural tube defects. Lancet 348:58.
    • (1996) Lancet , vol.348 , pp. 58
    • Papapetrou, C.1    Lynch, S.A.2    Burn, J.3    Edwards, Y.H.4
  • 108
    • 0026536066 scopus 로고
    • Generation of mice carrying a mutant apolipoprotein e gene inactivated by gene targeting in mouse embryonic stem cells
    • Piedrahita JA, Zhang SH, Hagaman JR, Clark PM, Maeda N (1992). Generation of mice carrying a mutant apolipoprotein E gene inactivated by gene targeting in mouse embryonic stem cells. Proc Natl Acad Sci 89:4471-4475.
    • (1992) Proc Natl Acad Sci , vol.89 , pp. 4471-4475
    • Piedrahita, J.A.1    Zhang, S.H.2    Hagaman, J.R.3    Clark, P.M.4    Maeda, N.5
  • 109
    • 7844243039 scopus 로고    scopus 로고
    • Inactivation of the folic acid binding protein genes: Implications for the role of folic acid in neural tube closure
    • in press
    • Piedrahita JA, Oetama B, Lacey SW, Kamen BA, Van Waes J, Finnell RH (1997). Inactivation of the folic acid binding protein genes: Implications for the role of folic acid in neural tube closure. Am J Hum Genet (in press).
    • (1997) Am J Hum Genet
    • Piedrahita, J.A.1    Oetama, B.2    Lacey, S.W.3    Kamen, B.A.4    Van Waes, J.5    Finnell, R.H.6
  • 111
    • 7844250974 scopus 로고
    • Neural crest and craniofacial disorders: Summary and conclusions
    • Poswillo DE (1988). Neural crest and craniofacial disorders: summary and conclusions. Am J Med Genet 4:1-5.
    • (1988) Am J Med Genet , vol.4 , pp. 1-5
    • Poswillo, D.E.1
  • 112
    • 0028048398 scopus 로고
    • Selective expression of the high-affinity isoform of the folate receptor (FR-alpha) in the human placental syncytiotrophoblast and choriocarcinoma cells
    • Prasad PD, Ramamoorthy S, Moe AJ, Smith CH, Leiback FH, Ganapathy V (1994). Selective expression of the high-affinity isoform of the folate receptor (FR-alpha) in the human placental syncytiotrophoblast and choriocarcinoma cells. Biochem Biophys Acta 1223:71-75.
    • (1994) Biochem Biophys Acta , vol.1223 , pp. 71-75
    • Prasad, P.D.1    Ramamoorthy, S.2    Moe, A.J.3    Smith, C.H.4    Leiback, F.H.5    Ganapathy, V.6
  • 113
    • 0023813768 scopus 로고
    • Characterization of the methotrexate transport pathway in murine L1210 leukemia cells: Involvement of a membrane receptor and a cytosolic protein
    • Price EM, Ratnam M, Rodeman KM, Freisheim JH (1988). Characterization of the methotrexate transport pathway in murine L1210 leukemia cells: involvement of a membrane receptor and a cytosolic protein. Biochem 27:7853-7858.
    • (1988) Biochem , vol.27 , pp. 7853-7858
    • Price, E.M.1    Ratnam, M.2    Rodeman, K.M.3    Freisheim, J.H.4
  • 114
    • 0000443712 scopus 로고
    • Inherited disorders of folate transport and metabolism
    • Chap. 101. Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill
    • Rosenblatt DS (1995). Inherited disorders of folate transport and metabolism. In: The metabolic and molecular bases of inherited disease. 7th ed. Chap. 101. Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill, pp. 3111-3128.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease. 7th Ed. , pp. 3111-3128
    • Rosenblatt, D.S.1
  • 115
    • 0028301752 scopus 로고
    • Differential regulation of folate receptor isoforms in normal and malignant tissues in vivo and in established cell lines. Physiologic and clinical implications
    • Ross JF, Chaudhuri PK, Ratnam M (1993). Differential regulation of folate receptor isoforms in normal and malignant tissues in vivo and in established cell lines. Physiologic and clinical implications. Cancer 73:2432-2443.
    • (1993) Cancer , vol.73 , pp. 2432-2443
    • Ross, J.F.1    Chaudhuri, P.K.2    Ratnam, M.3
  • 116
    • 0026573798 scopus 로고
    • Genomic organization of the gene and a related pseudogene for a human folate binding protein
    • Sadasivan E, Cedeno M, Rothenberg SP (1992). Genomic organization of the gene and a related pseudogene for a human folate binding protein. Biochem Biophys Acta 1131:91-94.
    • (1992) Biochem Biophys Acta , vol.1131 , pp. 91-94
    • Sadasivan, E.1    Cedeno, M.2    Rothenberg, S.P.3
  • 117
    • 0027939932 scopus 로고
    • Characterization of the gene encoding a folate-binding protein expressed in human placenta
    • Sadasivan E, Cedeno MM, Rothenberg SP (1994). Characterization of the gene encoding a folate-binding protein expressed in human placenta. J Biol Chem 269:4725-4735.
    • (1994) J Biol Chem , vol.269 , pp. 4725-4735
    • Sadasivan, E.1    Cedeno, M.M.2    Rothenberg, S.P.3
  • 118
    • 0023128222 scopus 로고
    • Folate transport by human intestinal brush-border membrane vesicles
    • Said HM, Ghishan FK, Redha R (1987). Folate transport by human intestinal brush-border membrane vesicles. Am Physiol 252:G229-G236.
    • (1987) Am Physiol , vol.252
    • Said, H.M.1    Ghishan, F.K.2    Redha, R.3
  • 119
    • 0026528056 scopus 로고
    • Screening for mutations by RNA single strand conformation polymorphism (rSSCP): Comparison with DNA-SSCP
    • Sarkar G, Yoon MS, Sommer SS (1992). Screening for mutations by RNA single strand conformation polymorphism (rSSCP): comparison with DNA-SSCP. Nucleic Acids Res 20:871-881.
    • (1992) Nucleic Acids Res , vol.20 , pp. 871-881
    • Sarkar, G.1    Yoon, M.S.2    Sommer, S.S.3
  • 120
    • 0027518733 scopus 로고
    • Association between alleles of the transforming growth factor-alpha locus and the occurrence of cleft lip
    • Sassani R, Bartlett SP, Feng H, et al. (1993). Association between alleles of the transforming growth factor-alpha locus and the occurrence of cleft lip. Am J Med Genet 45:565-569.
    • (1993) Am J Med Genet , vol.45 , pp. 565-569
    • Sassani, R.1    Bartlett, S.P.2    Feng, H.3
  • 121
    • 0022380156 scopus 로고
    • The transmembrane pH gradient drives uphill folate transport in rabbit jejunum
    • Schron CM, Washington C, Blitzer BL (1985). The transmembrane pH gradient drives uphill folate transport in rabbit jejunum. J Clin Invest 76:2030-2033.
    • (1985) J Clin Invest , vol.76 , pp. 2030-2033
    • Schron, C.M.1    Washington, C.2    Blitzer, B.L.3
  • 122
    • 0023215518 scopus 로고
    • Renal folate absorption and the kidney folate binding protein. I. Urinary clearance studies
    • Selhub J, Emmanouel D, Stavropoulos T, Arnold R (1987). Renal folate absorption and the kidney folate binding protein. I. Urinary clearance studies. Am J Physiol 252:F750-F756.
    • (1987) Am J Physiol , vol.252
    • Selhub, J.1    Emmanouel, D.2    Stavropoulos, T.3    Arnold, R.4
  • 123
    • 0021143125 scopus 로고
    • Periconceptional vitamin supplementation and the prevention of neural tube defects in south-east England and Northern Ireland
    • Seller MJ, Nevin NC (1984). Periconceptional vitamin supplementation and the prevention of neural tube defects in south-east England and Northern Ireland. J Med Genet 21:325-330.
    • (1984) J Med Genet , vol.21 , pp. 325-330
    • Seller, M.J.1    Nevin, N.C.2
  • 124
    • 0031105432 scopus 로고    scopus 로고
    • Incorporating molecular genetic variation and environmental exposures into epidemiologic studies of congenital anomalies
    • in press
    • Shaw GM, Lammer EJ (1997). Incorporating molecular genetic variation and environmental exposures into epidemiologic studies of congenital anomalies. Repro Toxicol (in press).
    • (1997) Repro Toxicol
    • Shaw, G.M.1    Lammer, E.J.2
  • 125
    • 7844243769 scopus 로고
    • Isolated oral cleft malformations: Associations with maternal and infant characteristics in a California population
    • Shaw GM, Croen LA, Curry CJ (1991). Isolated oral cleft malformations: associations with maternal and infant characteristics in a California population. Teratology 49:143-149.
    • (1991) Teratology , vol.49 , pp. 143-149
    • Shaw, G.M.1    Croen, L.A.2    Curry, C.J.3
  • 126
    • 0028962102 scopus 로고
    • Periconceptional vitamin use, dietary folate, and the occurrence of neural tube defects
    • Shaw GM, Schaffer D, Velie E, Morland KM, Harris JA (1995a). Periconceptional vitamin use, dietary folate, and the occurrence of neural tube defects. Epidemiol 6:219-226.
    • (1995) Epidemiol , vol.6 , pp. 219-226
    • Shaw, G.M.1    Schaffer, D.2    Velie, E.3    Morland, K.M.4    Harris, J.A.5
  • 128
    • 0029151571 scopus 로고
    • Risks of orofacial clefts in children born to women using multivitamins containing folic acid periconceptionally
    • Shaw GM, Lammer EJ, Wasserman CR, O'Malley CD, Tolorova MM (1995c). Risks of orofacial clefts in children born to women using multivitamins containing folic acid periconceptionally. Lancet 346:393-396.
    • (1995) Lancet , vol.346 , pp. 393-396
    • Shaw, G.M.1    Lammer, E.J.2    Wasserman, C.R.3    O'Malley, C.D.4    Tolorova, M.M.5
  • 129
  • 130
    • 0027492864 scopus 로고
    • Association of transforming growth factor alpha polymorphisms with nonsyndromic cleft palate only (CPO)
    • Shiang R, Lidral AC, Ardinger HH, et al. (1993). Association of transforming growth factor alpha polymorphisms with nonsyndromic cleft palate only (CPO). Am J Hum Genet 53:836-843.
    • (1993) Am J Hum Genet , vol.53 , pp. 836-843
    • Shiang, R.1    Lidral, A.C.2    Ardinger, H.H.3
  • 131
    • 0022353539 scopus 로고
    • Obligate genetic expression in tumor cells of a fetal membrane property mediating "folate" transport: Biological significance and implications for improved therapy of human cancer
    • Sirotnak FM (1985). Obligate genetic expression in tumor cells of a fetal membrane property mediating "folate" transport: biological significance and implications for improved therapy of human cancer. Cancer Res 45:3992-4000.
    • (1985) Cancer Res , vol.45 , pp. 3992-4000
    • Sirotnak, F.M.1
  • 133
    • 0019847861 scopus 로고
    • Apparent prevention of neural tube defects by periconceptional vitamin supplementation
    • Smithells RW, Sheppard S, Schorah CJ, et al. (1981). Apparent prevention of neural tube defects by periconceptional vitamin supplementation. Arch Dis Child 56:911-918.
    • (1981) Arch Dis Child , vol.56 , pp. 911-918
    • Smithells, R.W.1    Sheppard, S.2    Schorah, C.J.3
  • 134
    • 0020539902 scopus 로고
    • Further experience of vitamin supplementation for prevention of neural tube defect recurrences
    • Smithells RW, Seller MJ, Harris R, et al. (1983). Further experience of vitamin supplementation for prevention of neural tube defect recurrences. Lancet 1:1027-1031.
    • (1983) Lancet , vol.1 , pp. 1027-1031
    • Smithells, R.W.1    Seller, M.J.2    Harris, R.3
  • 135
    • 0015518918 scopus 로고
    • Maternal epilepsy and abnormalities of the foetus and newborn
    • Speidel BD, Meadow SR (1972). Maternal epilepsy and abnormalities of the foetus and newborn. Lancet 2:839-843.
    • (1972) Lancet , vol.2 , pp. 839-843
    • Speidel, B.D.1    Meadow, S.R.2
  • 136
    • 0028986856 scopus 로고
    • Distinguishing between folate receptor-alpha-mediated transport and reduced folate carrier-mediated transport in L12010 leukemia cells
    • Spinella MJ, Brigle KE, Sierra EE, Goldman ID (1995). Distinguishing between folate receptor-alpha-mediated transport and reduced folate carrier-mediated transport in L12010 leukemia cells. J Biol Chem 270:7842-7849.
    • (1995) J Biol Chem , vol.270 , pp. 7842-7849
    • Spinella, M.J.1    Brigle, K.E.2    Sierra, E.E.3    Goldman, I.D.4
  • 137
    • 0007605941 scopus 로고
    • Stress as an etiologic factor in the development of cleft palate
    • Strean LP, Peer LA (1956). Stress as an etiologic factor in the development of cleft palate. Plast Reconstr Surg 18:1-8.
    • (1956) Plast Reconstr Surg , vol.18 , pp. 1-8
    • Strean, L.P.1    Peer, L.A.2
  • 138
    • 0343169131 scopus 로고
    • Craniofacial development
    • Thorogood P, Tickle C (1988). Craniofacial development. Development 103:1-257.
    • (1988) Development , vol.103 , pp. 1-257
    • Thorogood, P.1    Tickle, C.2
  • 139
    • 0019985118 scopus 로고
    • Periconceptional supplementation with vitamins and folic acid to prevent recurrence of cleft lip
    • Tolarova MM (1982). Periconceptional supplementation with vitamins and folic acid to prevent recurrence of cleft lip. Lancet 2:217.
    • (1982) Lancet , vol.2 , pp. 217
    • Tolarova, M.M.1
  • 141
    • 0025356568 scopus 로고
    • Primary prevention of neural tube defects with folic acid supplementation: Cuban experience
    • Vergel RG, Sanchez LR, Heredero BL, et al. (1990). Primary prevention of neural tube defects with folic acid supplementation: Cuban experience. Prenat Diagn 10:149-152.
    • (1990) Prenat Diagn , vol.10 , pp. 149-152
    • Vergel, R.G.1    Sanchez, L.R.2    Heredero, B.L.3
  • 142
    • 0026446685 scopus 로고
    • Differential stereospecificities and affinities of folate receptor isoforms for folate compounds and antifolates
    • Wang X, Shen F, Freisheim JH, Gentry LE, Ratnam M (1992). Differential stereospecificities and affinities of folate receptor isoforms for folate compounds and antifolates. Biochem Pharmacol 44:1898-1901.
    • (1992) Biochem Pharmacol , vol.44 , pp. 1898-1901
    • Wang, X.1    Shen, F.2    Freisheim, J.H.3    Gentry, L.E.4    Ratnam, M.5
  • 144
    • 0000900060 scopus 로고
    • Appearance of skeletal abnormalities in the offspring of rats reared on a deficient diet
    • Warkany J, Nelson RC (1940). Appearance of skeletal abnormalities in the offspring of rats reared on a deficient diet. Science 92:383-384.
    • (1940) Science , vol.92 , pp. 383-384
    • Warkany, J.1    Nelson, R.C.2
  • 145
    • 0026302402 scopus 로고
    • Diurnal variation of folate concentrations in mouse embryo and plasma: The protective effect of folinic acid on valproic acid-induced teratogenicity is time-dependent
    • Wegner C, Nau H (1991). Diurnal variation of folate concentrations in mouse embryo and plasma: the protective effect of folinic acid on valproic acid-induced teratogenicity is time-dependent. Reprod Toxicol 5:465-471.
    • (1991) Reprod Toxicol , vol.5 , pp. 465-471
    • Wegner, C.1    Nau, H.2
  • 146
    • 0026848306 scopus 로고
    • Alteration of embryonic folate metabolism by valproic acid during organogenesis: Implications for mechanism of teratogenesis
    • Wegner C, Nau H (1992). Alteration of embryonic folate metabolism by valproic acid during organogenesis: implications for mechanism of teratogenesis. Neurology 42(Suppl 5): 17-24.
    • (1992) Neurology , vol.42 , Issue.5 SUPPL. , pp. 17-24
    • Wegner, C.1    Nau, H.2
  • 147
    • 0026752798 scopus 로고
    • Distribution of the folate receptor (gp 38) in normal and malignant cell lines and tissues
    • Weitman SD, Lark RH, Coney LR, Fort DW, Frasca V, Zurawski VR, et al. (1992a). Distribution of the folate receptor (gp 38) in normal and malignant cell lines and tissues. Cancer Res 52:3396-3401.
    • (1992) Cancer Res , vol.52 , pp. 3396-3401
    • Weitman, S.D.1    Lark, R.H.2    Coney, L.R.3    Fort, D.W.4    Frasca, V.5    Zurawski, V.R.6
  • 148
    • 0026476410 scopus 로고
    • Cellular localization of the folate receptor: Potential role in drug toxicity in folate homeostasis
    • Weitman SD, Weinberg AG, Coney LR, Zurawski VR, Jennings DS, Kamen BA (1992b). Cellular localization of the folate receptor: potential role in drug toxicity in folate homeostasis. Cancer Res 52:6708-6711.
    • (1992) Cancer Res , vol.52 , pp. 6708-6711
    • Weitman, S.D.1    Weinberg, A.G.2    Coney, L.R.3    Zurawski, V.R.4    Jennings, D.S.5    Kamen, B.A.6
  • 149
    • 0027518951 scopus 로고
    • Periconceptional folic acid exposure and risk of occurrent neural tube defects
    • Werler MM, Shapiro S, Mitchell AA (1993). Periconceptional folic acid exposure and risk of occurrent neural tube defects. J Am Med Assoc 269:1257-1261.
    • (1993) J Am Med Assoc , vol.269 , pp. 1257-1261
    • Werler, M.M.1    Shapiro, S.2    Mitchell, A.A.3
  • 150
    • 0029118446 scopus 로고
    • Carrier- and receptor-mediated transport of folate antagonists targeting folate-dependent enzymes: Correlates of molecular-structure and biological activity
    • Westerhof GR, Schornagel JH, Dathmann I, Jackman AL, Rosowsky A, Forsch RA, et al. (1995a). Carrier- and receptor-mediated transport of folate antagonists targeting folate-dependent enzymes: Correlates of molecular-structure and biological activity. Molec Pharmacol 48:459-471.
    • (1995) Molec Pharmacol , vol.48 , pp. 459-471
    • Westerhof, G.R.1    Schornagel, J.H.2    Dathmann, I.3    Jackman, A.L.4    Rosowsky, A.5    Forsch, R.A.6
  • 151
    • 0029150493 scopus 로고
    • Functional activity of the reduced folate carrier in KB, MA104, and IGROV-1 cells expressing folate-binding protein
    • Westerhof R, Rijnboutt S, Schornagel JH, Pinedo HM, Peters GJ, Jansen M (1995b). Functional activity of the reduced folate carrier in KB, MA104, and IGROV-1 cells expressing folate-binding protein. Cancer Res 55:3795-3802.
    • (1995) Cancer Res , vol.55 , pp. 3795-3802
    • Westerhof, R.1    Rijnboutt, S.2    Schornagel, J.H.3    Pinedo, H.M.4    Peters, G.J.5    Jansen, M.6
  • 152
    • 0028803474 scopus 로고
    • A genetic defect in 5,10-methylenetetrahydrofolate reductase in neural tube defects
    • Whitehead AS, Gallagher P, Mills JL, Kirke PN, Burke H, Molloy AM, et al. (1995). A genetic defect in 5,10-methylenetetrahydrofolate reductase in neural tube defects. Q J Med 88:763-766.
    • (1995) Q J Med , vol.88 , pp. 763-766
    • Whitehead, A.S.1    Gallagher, P.2    Mills, J.L.3    Kirke, P.N.4    Burke, H.5    Molloy, A.M.6
  • 153
    • 0027963626 scopus 로고
    • Isolation of a hamster cDNA clone coding for a function involved in methotrexate uptake
    • Williams FMR, Murray RC, Underhill M, Flintoff WF (1994). Isolation of a hamster cDNA clone coding for a function involved in methotrexate uptake. J Biol Chem 269:5810-5816.
    • (1994) J Biol Chem , vol.269 , pp. 5810-5816
    • Williams, F.M.R.1    Murray, R.C.2    Underhill, M.3    Flintoff, W.F.4
  • 155
    • 0023256632 scopus 로고
    • Epidemiology of facial clefts
    • Womersly J, Stone DH (1987). Epidemiology of facial clefts. Arch Dis Child 62:717-720.
    • (1987) Arch Dis Child , vol.62 , pp. 717-720
    • Womersly, J.1    Stone, D.H.2
  • 156
    • 0021152014 scopus 로고
    • Interaction between anions and the reduced folate/methotrexate transport system in L1210 cell plasma membrane vesicles: Directional symmetry and anion specificity for differential mobility of loaded and unloaded carrier
    • Yang CH, Sirotnak FM, Dembo M (1984). Interaction between anions and the reduced folate/methotrexate transport system in L1210 cell plasma membrane vesicles: directional symmetry and anion specificity for differential mobility of loaded and unloaded carrier. J Membr Biol 79:285-292.
    • (1984) J Membr Biol , vol.79 , pp. 285-292
    • Yang, C.H.1    Sirotnak, F.M.2    Dembo, M.3
  • 157
    • 0023733840 scopus 로고
    • Further studies on a novel class of genetic variants of the L1210 cell with increased folate analogue transport inward. Transport properties of a new variant, evidence for increased levels of a specific transport protein, and its partial characterization following affinity labeling
    • Yang CH, Sirotnak FM, Mines LS (1988). Further studies on a novel class of genetic variants of the L1210 cell with increased folate analogue transport inward. Transport properties of a new variant, evidence for increased levels of a specific transport protein, and its partial characterization following affinity labeling. J Biol Chem 263:9703-9709.
    • (1988) J Biol Chem , vol.263 , pp. 9703-9709
    • Yang, C.H.1    Sirotnak, F.M.2    Mines, L.S.3
  • 158
    • 0023214676 scopus 로고
    • Is disordered folate metabolism the basis for the genetic predisposition to neural tube defects?
    • Yates JRW, Ferguson-Smith MA, Shenkin A, et al. (1987). Is disordered folate metabolism the basis for the genetic predisposition to neural tube defects? Clin Genet 31:279-287.
    • (1987) Clin Genet , vol.31 , pp. 279-287
    • Yates, J.R.W.1    Ferguson-Smith, M.A.2    Shenkin, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.