메뉴 건너뛰기




Volumn 48, Issue 4, 2005, Pages 885-896

Fetal therapy for single gene disorders

Author keywords

[No Author keywords available]

Indexed keywords

ADENOVIRUS VECTOR; BILE ACID; BISPHOSPHONIC ACID DERIVATIVE; BLOOD CLOTTING FACTOR 9 COMPLEX; CHELATING AGENT; CYANOCOBALAMIN; GALACTOSYLCERAMIDASE; PAMIDRONIC ACID; RETROVIRUS VECTOR; SERINE; SIMVASTATIN;

EID: 29544439253     PISSN: 00099201     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.grf.0000184778.25663.ec     Document Type: Review
Times cited : (3)

References (48)
  • 1
    • 1942487331 scopus 로고    scopus 로고
    • Circulating fetal DNA: Its origin and diagnostic potential - A review
    • Bianchi DW. Circulating fetal DNA: Its origin and diagnostic potential - a review. Placenta. 2004;25(Suppl A):S93-S101.
    • (2004) Placenta , vol.25 , Issue.SUPPL. A
    • Bianchi, D.W.1
  • 2
    • 0034924265 scopus 로고    scopus 로고
    • Fetal DNA in maternal plasma: Application to non-invasive blood group genotyping of the fetus
    • Lo YM. Fetal DNA in maternal plasma: application to non-invasive blood group genotyping of the fetus. Transfus Clin Biol. 2001;8:306-310.
    • (2001) Transfus Clin Biol , vol.8 , pp. 306-310
    • Lo, Y.M.1
  • 3
    • 0036231537 scopus 로고    scopus 로고
    • Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: A feasibility study
    • Chiu RW, Lau TK, Cheung PT, et al. Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study. Clin Chem. 2002;48:778-780.
    • (2002) Clin Chem , vol.48 , pp. 778-780
    • Chiu, R.W.1    Lau, T.K.2    Cheung, P.T.3
  • 4
    • 0034734711 scopus 로고    scopus 로고
    • Prenatal DNA diagnosis of a single-gene disorder from maternal plasma
    • Saito H, Sekizawa A, Morimoto T, et al. Prenatal DNA diagnosis of a single-gene disorder from maternal plasma. Lancet. 2000;356:1170.
    • (2000) Lancet , vol.356 , pp. 1170
    • Saito, H.1    Sekizawa, A.2    Morimoto, T.3
  • 5
    • 0036797932 scopus 로고    scopus 로고
    • Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma
    • Gonzalez-Gonzalez MC, Garcia-Hoyas M, Trujillo MJ, et al. Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma. Prenat Diagn. 2002;22:946-948.
    • (2002) Prenat Diagn , vol.22 , pp. 946-948
    • Gonzalez-Gonzalez, M.C.1    Garcia-Hoyas, M.2    Trujillo, M.J.3
  • 6
    • 0037190608 scopus 로고    scopus 로고
    • Prenatal exclusion of beta thalassaemia major by examination of maternal plasma
    • Chiu RW, Lau TK, Leung TN, et al. Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet. 2002;360:998-1000.
    • (2002) Lancet , vol.360 , pp. 998-1000
    • Chiu, R.W.1    Lau, T.K.2    Leung, T.N.3
  • 7
    • 0033968645 scopus 로고    scopus 로고
    • Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma
    • Amicucci P, Gennarelli M, Novelli G, et al. Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Clin Chem. 2000;46:301-302.
    • (2000) Clin Chem , vol.46 , pp. 301-302
    • Amicucci, P.1    Gennarelli, M.2    Novelli, G.3
  • 11
    • 0027270349 scopus 로고
    • Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
    • Irons MB, Elias ER, Salen G, et al. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet. 1993;341:1414.
    • (1993) Lancet , vol.341 , pp. 1414
    • Irons, M.B.1    Elias, E.R.2    Salen, G.3
  • 12
    • 0000727177 scopus 로고
    • Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
    • Tint GS, Irons M, Elias ER, et al. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med. 1994;330:107-113.
    • (1994) N Engl J Med , vol.330 , pp. 107-113
    • Tint, G.S.1    Irons, M.2    Elias, E.R.3
  • 13
    • 0036734985 scopus 로고    scopus 로고
    • Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient
    • Loeffler J, Utermann G, Witsch-Baumgartner M. Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient. Prenat Diagn. 2002;22:827-830.
    • (2002) Prenat Diagn , vol.22 , pp. 827-830
    • Loeffler, J.1    Utermann, G.2    Witsch-Baumgartner, M.3
  • 14
    • 0031043337 scopus 로고    scopus 로고
    • Maternal serum markers in two pregnancies affected with Smith-Lemli-Opitz syndrome
    • Canick JA, Abuelo DN, Bradley LA, Tint GS. Maternal serum markers in two pregnancies affected with Smith-Lemli-Opitz syndrome. Prenat Diagn. 1997;17:187-189.
    • (1997) Prenat Diagn , vol.17 , pp. 187-189
    • Canick, J.A.1    Abuelo, D.N.2    Bradley, L.A.3    Tint, G.S.4
  • 15
    • 0031043337 scopus 로고    scopus 로고
    • Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome
    • Canick JA, Abuelo DN, Bradley LA, et al. Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome. Prenat Diagn. 1997;17:187-189.
    • (1997) Prenat Diagn , vol.17 , pp. 187-189
    • Canick, J.A.1    Abuelo, D.N.2    Bradley, L.A.3
  • 16
    • 0028787522 scopus 로고
    • Pregnancy outcome for women with very low levels of maternal serum unconjugated estriol on second-trimester screening
    • Schleifer RA, Bradley LA, Richards DS, et al. Pregnancy outcome for women with very low levels of maternal serum unconjugated estriol on second-trimester screening. Am J Obstet Gynecol. 1995;173:1152-1156.
    • (1995) Am J Obstet Gynecol , vol.173 , pp. 1152-1156
    • Schleifer, R.A.1    Bradley, L.A.2    Richards, D.S.3
  • 17
    • 0038384014 scopus 로고    scopus 로고
    • Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other conditions
    • Schoen E, Norem C, O'Keefe J, et al. Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other conditions. Obstet Gynecol. 2003;102:167-172.
    • (2003) Obstet Gynecol , vol.102 , pp. 167-172
    • Schoen, E.1    Norem, C.2    O'Keefe, J.3
  • 18
    • 0031051150 scopus 로고    scopus 로고
    • Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial
    • Irons M, Elias ER, Abuelo D, et al. Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Am J Med Genet. 1997;68:311-314.
    • (1997) Am J Med Genet , vol.68 , pp. 311-314
    • Irons, M.1    Elias, E.R.2    Abuelo, D.3
  • 19
    • 3042839928 scopus 로고    scopus 로고
    • Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome
    • Sikora DM, Ruggiero M, Petit-Kekel K, et al. Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. J Pediatr. 2004;144:783-791.
    • (2004) J Pediatr , vol.144 , pp. 783-791
    • Sikora, D.M.1    Ruggiero, M.2    Petit-Kekel, K.3
  • 20
    • 0037159465 scopus 로고    scopus 로고
    • Simvastatin treatment in the SLO syndrome: A safe approach?
    • Starck L, Lovgren-Sandblom A, Bjorkhem I. Simvastatin treatment in the SLO syndrome: a safe approach? Am J Med Genet. 2002;113:183-189.
    • (2002) Am J Med Genet , vol.113 , pp. 183-189
    • Starck, L.1    Lovgren-Sandblom, A.2    Bjorkhem, I.3
  • 21
    • 0033041217 scopus 로고    scopus 로고
    • Antenatal therapy of Smith-Lemli-Opitz syndrome
    • Irons MB, Nores J, Stewart TL, et al. Antenatal therapy of Smith-Lemli-Opitz syndrome. Fetal Diagn Ther. 1999;14:133-137.
    • (1999) Fetal Diagn Ther , vol.14 , pp. 133-137
    • Irons, M.B.1    Nores, J.2    Stewart, T.L.3
  • 22
    • 10944270723 scopus 로고    scopus 로고
    • Prenatal and early postnatal treatment in 3-phosphoglycerate- dehydrogenase deficiency
    • de Koning TJ, Klomp LW, van Oppen AC, et al. Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency. Lancet. 2004;364:2221-2222.
    • (2004) Lancet , vol.364 , pp. 2221-2222
    • De Koning, T.J.1    Klomp, L.W.2    Van Oppen, A.C.3
  • 23
    • 1942501149 scopus 로고    scopus 로고
    • Osteogenesis imperfecta
    • Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004;363:1377-1385.
    • (2004) Lancet , vol.363 , pp. 1377-1385
    • Rauch, F.1    Glorieux, F.H.2
  • 24
    • 0028902064 scopus 로고
    • Perinatal lethal osteogenesis imperfecta
    • Cole WG, Dalgleish R. Perinatal lethal osteogenesis imperfecta. J Med Genet. 1995;32:284-289.
    • (1995) J Med Genet , vol.32 , pp. 284-289
    • Cole, W.G.1    Dalgleish, R.2
  • 25
    • 0018416379 scopus 로고
    • Genetic heterogeneity in osteogenesis imperfecta
    • Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16:101-116.
    • (1979) J Med Genet , vol.16 , pp. 101-116
    • Sillence, D.O.1    Senn, A.2    Danks, D.M.3
  • 26
    • 0037371391 scopus 로고    scopus 로고
    • Modern approach to children with osteogenesis imperfecta
    • Zeitlin L, Fassier F, Glorieux FH. Modern approach to children with osteogenesis imperfecta. J Pediatr Orthop B. 2003;12:77-87.
    • (2003) J Pediatr Orthop B , vol.12 , pp. 77-87
    • Zeitlin, L.1    Fassier, F.2    Glorieux, F.H.3
  • 27
    • 0023254903 scopus 로고
    • Radiological manifestations of bisphosphonate treatment with APD in a child suffering from osteogenesis imperfecta
    • Devogelaer JP, Malghem J, Maldague B, et al. Radiological manifestations of bisphosphonate treatment with APD in a child suffering from osteogenesis imperfecta. Skeletal Radiol. 1987;16:360-363.
    • (1987) Skeletal Radiol , vol.16 , pp. 360-363
    • Devogelaer, J.P.1    Malghem, J.2    Maldague, B.3
  • 28
    • 0032190352 scopus 로고    scopus 로고
    • Cyclic administration of pamidronate in children with severe osteogenesis imperfecta
    • Glorieux FH, Bishop NJ, Plotkin H, et al. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med. 1998;339:947-952.
    • (1998) N Engl J Med , vol.339 , pp. 947-952
    • Glorieux, F.H.1    Bishop, N.J.2    Plotkin, H.3
  • 29
    • 0032976690 scopus 로고    scopus 로고
    • Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta
    • Horwitz EM, Prockop DJ, Fitzpatrick LA. Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta. Nat Med. 1999;5:309-313.
    • (1999) Nat Med , vol.5 , pp. 309-313
    • Horwitz, E.M.1    Prockop, D.J.2    Fitzpatrick, L.A.3
  • 30
    • 0031929290 scopus 로고    scopus 로고
    • Trabecular and endosteal osteoprogenitor cells as targets for ex-vivo gene transfer
    • Onyja JE, Clapp DW, Long H, et al. Trabecular and endosteal osteoprogenitor cells as targets for ex-vivo gene transfer. J Bone Miner Res. 1998;13:20-30.
    • (1998) J Bone Miner Res , vol.13 , pp. 20-30
    • Onyja, J.E.1    Clapp, D.W.2    Long, H.3
  • 31
    • 20544455396 scopus 로고    scopus 로고
    • Fetal mesenchymal stem cell engraftment in bone following in utero transplantation in a patient with severe osteogenesis imperfecta
    • Le Blanc K, Gotherstrom C, Ringden O, et al. Fetal mesenchymal stem cell engraftment in bone following in utero transplantation in a patient with severe osteogenesis imperfecta. Transplantation. 2005;79:1607-1614.
    • (2005) Transplantation , vol.79 , pp. 1607-1614
    • Le Blanc, K.1    Gotherstrom, C.2    Ringden, O.3
  • 32
    • 0027420443 scopus 로고
    • Haploidentical bone marrow stem cell transplantation in human severe combined immunodeficiency
    • Buckley RH, Schiff SE, Schiff RI, et al. Haploidentical bone marrow stem cell transplantation in human severe combined immunodeficiency. Semin Hematol. 1993;30:92-101.
    • (1993) Semin Hematol , vol.30 , pp. 92-101
    • Buckley, R.H.1    Schiff, S.E.2    Schiff, R.I.3
  • 33
    • 0029848406 scopus 로고    scopus 로고
    • Brief Report: Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow
    • Flake AW, Roncarolo M, Puck JM, et al. Brief Report: treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow. N Engl J Med. 1996;335:1806-1810.
    • (1996) N Engl J Med , vol.335 , pp. 1806-1810
    • Flake, A.W.1    Roncarolo, M.2    Puck, J.M.3
  • 34
    • 0036677704 scopus 로고    scopus 로고
    • Prenatal T-cell reconstitution after in utero transplantation with fetal liver cells in a patient with X-linked severe combined immunodeficiency
    • Westgren M, Ringden O, Bartmann P, et al. Prenatal T-cell reconstitution after in utero transplantation with fetal liver cells in a patient with X-linked severe combined immunodeficiency. Am J Obstet Gynecol. 2002;187:475-482.
    • (2002) Am J Obstet Gynecol , vol.187 , pp. 475-482
    • Westgren, M.1    Ringden, O.2    Bartmann, P.3
  • 35
    • 3042543750 scopus 로고    scopus 로고
    • Reappraisal of in utero stem cell transplantation based on long-term results
    • Touraine JL, Raudrant D, Golfier F, et al. Reappraisal of in utero stem cell transplantation based on long-term results. Fetal Diagn Ther. 2004;19:305-312.
    • (2004) Fetal Diagn Ther , vol.19 , pp. 305-312
    • Touraine, J.L.1    Raudrant, D.2    Golfier, F.3
  • 36
    • 0031812219 scopus 로고    scopus 로고
    • Treatment of hemoglobin Bart's hydrops with bone marrow transplantation
    • Chik KW, Shing MM, Li CK, et al. Treatment of hemoglobin Bart's hydrops with bone marrow transplantation. J Pediatr. 1998;132:1039-1042.
    • (1998) J Pediatr , vol.132 , pp. 1039-1042
    • Chik, K.W.1    Shing, M.M.2    Li, C.K.3
  • 37
    • 0034899954 scopus 로고    scopus 로고
    • Successful mismatched sibling cord blood transplant in Hb Bart's disease
    • Zhou X, Ha SY, Chan GC, et al. Successful mismatched sibling cord blood transplant in Hb Bart's disease. Bone Marrow Transplant. 2001;18:105-107.
    • (2001) Bone Marrow Transplant , vol.18 , pp. 105-107
    • Zhou, X.1    Ha, S.Y.2    Chan, G.C.3
  • 38
    • 0043171015 scopus 로고    scopus 로고
    • Homozygous alpha-thalassemia treated with intrauterine transfusions and postnatal hematopoietic stem cell transplantation
    • Thornley I, Lehmann L, Ferguson WS, et al. Homozygous alpha-thalassemia treated with intrauterine transfusions and postnatal hematopoietic stem cell transplantation. Bone Marrow Transplant. 2003;32:341-342.
    • (2003) Bone Marrow Transplant , vol.32 , pp. 341-342
    • Thornley, I.1    Lehmann, L.2    Ferguson, W.S.3
  • 39
    • 0034180256 scopus 로고    scopus 로고
    • Prenatal gene transfer: Scientific, medical and ethical issues: a report of the Recombinant DNA Advisory Committee
    • Recombinant DNA Advisory Committee. Prenatal gene transfer: scientific, medical and ethical issues: a report of the Recombinant DNA Advisory Committee. Hum Gene Ther. 2000;11:1211-1229.
    • (2000) Hum Gene Ther , vol.11 , pp. 1211-1229
  • 40
    • 5444252217 scopus 로고    scopus 로고
    • Fetal and neonatal gene therapy: Benefits and pitfalls
    • Waddington SN, Kennea NL, Buckley SM, et al. Fetal and neonatal gene therapy: benefits and pitfalls. Gene Ther. 2004;11(Suppl 1):S92-S97.
    • (2004) Gene Ther , vol.11 , Issue.1 SUPPL.
    • Waddington, S.N.1    Kennea, N.L.2    Buckley, S.M.3
  • 41
    • 0012291342 scopus 로고    scopus 로고
    • Neonatal immune response
    • Delves PJ, Roitt IM, eds. London: Academic Press
    • Riley RL. Neonatal immune response. In: Delves PJ, Roitt IM, eds. Encyclopedia of Immunology. London: Academic Press; 1998: 1818-1821.
    • (1998) Encyclopedia of Immunology , pp. 1818-1821
    • Riley, R.L.1
  • 42
    • 0036408320 scopus 로고    scopus 로고
    • Genetic therapies for the fetus
    • Flake AW. Genetic therapies for the fetus. Clin Obstet Gynecol. 2002;45:684-696.
    • (2002) Clin Obstet Gynecol , vol.45 , pp. 684-696
    • Flake, A.W.1
  • 43
    • 0029115287 scopus 로고
    • Retrovirus-mediated gene transfer in lungs of living fetal sheep
    • Pitt BR, Schwarz MA, Pilewski JM, et al. Retrovirus-mediated gene transfer in lungs of living fetal sheep. Gene Ther. 1995;2:334-350.
    • (1995) Gene Ther , vol.2 , pp. 334-350
    • Pitt, B.R.1    Schwarz, M.A.2    Pilewski, J.M.3
  • 44
    • 0032551689 scopus 로고    scopus 로고
    • In utero gene therapy: Transfer and long-term expression of the bacterial neo® gene in sheep after direct injection of retroviral vectors into preimmune fetuses
    • Porada CD, Tran N, Eglitis M, et al. In utero gene therapy: transfer and long-term expression of the bacterial neo® gene in sheep after direct injection of retroviral vectors into preimmune fetuses. Hum Gene Ther. 1998;9:1571-1585.
    • (1998) Hum Gene Ther , vol.9 , pp. 1571-1585
    • Porada, C.D.1    Tran, N.2    Eglitis, M.3
  • 45
    • 0032768176 scopus 로고    scopus 로고
    • Successful expression of beta-galactosidase and factor IX transgenes in fetal and neonatal sheep after ultrasound-guided percutaneous adenovirus vector administration into the umbilical vein
    • Themis M, Schneider H, Kiserud T, et al. Successful expression of beta-galactosidase and factor IX transgenes in fetal and neonatal sheep after ultrasound-guided percutaneous adenovirus vector administration into the umbilical vein. Gene Ther. 1999;6:1239-1248.
    • (1999) Gene Ther , vol.6 , pp. 1239-1248
    • Themis, M.1    Schneider, H.2    Kiserud, T.3
  • 46
    • 0037338159 scopus 로고    scopus 로고
    • Ultrasound-guided percutaneous delivery of adenoviral vectors encoding the beta galactosidase and human factor IX genes to early gestation fetal sheep in utero
    • David A, Cook T, Waddington S, et al. Ultrasound-guided percutaneous delivery of adenoviral vectors encoding the beta galactosidase and human factor IX genes to early gestation fetal sheep in utero. Hum Gene Ther. 2003;14:353-364.
    • (2003) Hum Gene Ther , vol.14 , pp. 353-364
    • David, A.1    Cook, T.2    Waddington, S.3
  • 47
    • 5444227748 scopus 로고    scopus 로고
    • Permanent phenotypic correction of hemophilia B in immunocompetent mice by prenatal gene therapy
    • Waddington SN, Nivsarkar MS, Mistry AR, et al. Permanent phenotypic correction of hemophilia B in immunocompetent mice by prenatal gene therapy. Blood. 2004;104:2714-2721.
    • (2004) Blood , vol.104 , pp. 2714-2721
    • Waddington, S.N.1    Nivsarkar, M.S.2    Mistry, A.R.3
  • 48
    • 2942596259 scopus 로고    scopus 로고
    • Treatment of lysosomal storage disorders: Cell therapy and gene therapy
    • Eto Y, Shen JS, Meng XL, et al. Treatment of lysosomal storage disorders: cell therapy and gene therapy. J Inherit Metab Dis. 2004;27:411-415.
    • (2004) J Inherit Metab Dis , vol.27 , pp. 411-415
    • Eto, Y.1    Shen, J.S.2    Meng, X.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.