메뉴 건너뛰기




Volumn 979, Issue , 2002, Pages 39-51

Research perspectives in inherited lymphatic disease

Author keywords

Aagenaes' syndrome; FOXC2; Hennekam's syndrome; Lymphedema; Lymphedemadistichiasis; Noonan's syndrome; VEGF C; VEGFR3

Indexed keywords

VASCULOTROPIN C; VASCULOTROPIN RECEPTOR 3;

EID: 0036964966     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2002.tb04866.x     Document Type: Conference Paper
Times cited : (45)

References (62)
  • 1
    • 0001360073 scopus 로고
    • An undescribed variety of hereditary oedema
    • MILROY, W.F. 1892. An undescribed variety of hereditary oedema. N.Y. Med. J. 56: 505-508.
    • (1892) N.Y. Med. J. , vol.56 , pp. 505-508
    • Milroy, W.F.1
  • 2
    • 0001755932 scopus 로고
    • Vier fälle von elephantiasis congenita heredituria
    • NONNE, M. 1891. Vier fälle von elephantiasis congenita heredituria. Virchows Arch. Pathol. Anat. 125: 189-196.
    • (1891) Virchows Arch. Pathol. Anat. , vol.125 , pp. 189-196
    • Nonne, M.1
  • 3
    • 0031789367 scopus 로고    scopus 로고
    • Hereditary lymphedema: Evidence for linkage and genetic heterogeneity
    • FERRELL, R.E., K.M. LEVINSON, J.H. ESMAN, et al. 1998. Hereditary lymphedema: evidence for linkage and genetic heterogeneity. Hum. Mol. Genet. 7: 2073-2078.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 2073-2078
    • Ferrell, R.E.1    Levinson, K.M.2    Esman, J.H.3
  • 4
    • 0032445649 scopus 로고    scopus 로고
    • Phenotypic and genotypic heterogeneity in familial Milroy lymphedema
    • WITTE, M.H., R. ERICKSON, M. BERNAS, et al. 1998. Phenotypic and genotypic heterogeneity in familial Milroy lymphedema. Lymphology 31: 145-155.
    • (1998) Lymphology , vol.31 , pp. 145-155
    • Witte, M.H.1    Erickson, R.2    Bernas, M.3
  • 5
    • 0033070198 scopus 로고    scopus 로고
    • Mapping of primary congenital lymphedema to the 5q35.3 region
    • EVANS, A.L., G. BRICE, V. SOTIROVA, et al. 1999. Mapping of primary congenital lymphedema to the 5q35.3 region. Am. J. Hum. Genet. 64: 547-555.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 547-555
    • Evans, A.L.1    Brice, G.2    Sotirova, V.3
  • 6
    • 0034041161 scopus 로고    scopus 로고
    • Missense mutations interfere with VEGFR-3 signalling in primary lymphedema
    • KARKKAINEN, M.J., R.E. FERRELL, E.C. LAWRENCE, et al. 2000. Missense mutations interfere with VEGFR-3 signalling in primary lymphedema. Nature Genet. 25: 153-159.
    • (2000) Nature Genet. , vol.25 , pp. 153-159
    • Karkkainen, M.J.1    Ferrell, R.E.2    Lawrence, E.C.3
  • 7
    • 0033862310 scopus 로고    scopus 로고
    • Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase
    • IRRTHUM, A., M.J. KARKKAINEN, K. DIVRIENDT, et al. 2000. Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. Am. J. Hum. Genet. 67: 295-301.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 295-301
    • Irrthum, A.1    Karkkainen, M.J.2    Divriendt, K.3
  • 8
    • 0028170817 scopus 로고
    • Receptor protein-tyrosine kinases and their signal transduction pathways
    • VAN DER GEER, P., T. HUNTER & R.A. LINDBERG. 1994. Receptor protein-tyrosine kinases and their signal transduction pathways. Annu. Rev. Cell Biol. 10: 251-337.
    • (1994) Annu. Rev. Cell Biol. , vol.10 , pp. 251-337
    • Van Der Geer, P.1    Hunter, T.2    Lindberg, R.A.3
  • 9
    • 0030265393 scopus 로고    scopus 로고
    • Vascular endothelial growth factor and its receptor
    • KLAGSBRUN, M. & P.A. D'AMORE. 1996. Vascular endothelial growth factor and its receptor. Cytokine Growth Factor Rev. 7: 259-270.
    • (1996) Cytokine Growth Factor Rev. , vol.7 , pp. 259-270
    • Klagsbrun, M.1    D'Amore, P.A.2
  • 10
    • 0030026897 scopus 로고    scopus 로고
    • A novel vascular endothelial growth factor, VEGFC, is a ligand for the Flt4 (VEGFR3) and KDR (VEGFR2) receptor tyrosine kinases
    • JOUKOV, V., K. PAJUSOLA, A. KAIPAINEN, et al. 1996. A novel vascular endothelial growth factor, VEGFC, is a ligand for the Flt4 (VEGFR3) and KDR (VEGFR2) receptor tyrosine kinases. EMBO J. 15: 290-298.
    • (1996) EMBO J. , vol.15 , pp. 290-298
    • Joukov, V.1    Pajusola, K.2    Kaipainen, A.3
  • 11
    • 0031905861 scopus 로고    scopus 로고
    • Vascular endothelial growth factor D (VEGFD) is a ligand for the tyrosine kinases VEGF receptor 2 (Flk1) and VEGF receptor 3 (Flt4)
    • ACHEN, M.G., M. JELTSCH, E. KUKK, et al. 1998. Vascular endothelial growth factor D (VEGFD) is a ligand for the tyrosine kinases VEGF receptor 2 (Flk1) and VEGF receptor 3 (Flt4). Proc. Natl. Acad. Sci. USA 95: 548-553.
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 548-553
    • Achen, M.G.1    Jeltsch, M.2    Kukk, E.3
  • 12
    • 0032582502 scopus 로고    scopus 로고
    • Cardiovascular failure in mouse embryos deficient in VEGF receptor-3
    • DUMONT, D.J., L. JUSSILA, J. TAIPALE, et al. 1998. Cardiovascular failure in mouse embryos deficient in VEGF receptor-3. Science 282: 946-949.
    • (1998) Science , vol.282 , pp. 946-949
    • Dumont, D.J.1    Jussila, L.2    Taipale, J.3
  • 13
    • 0028938746 scopus 로고
    • Expression of the fms-like tyrosine kinase-4 gene becomes restricted to lymphatic endothelium during development
    • KAIPAINEN, A., J. KORHONEN, T. MUSTONEN, et al. 1995. Expression of the fms-like tyrosine kinase-4 gene becomes restricted to lymphatic endothelium during development. Proc. Natl. Acad. Sci. USA 92: 3566-3570.
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 3566-3570
    • Kaipainen, A.1    Korhonen, J.2    Mustonen, T.3
  • 14
    • 0030453355 scopus 로고    scopus 로고
    • VEGF-C receptor binding and pattern of expression with VEGFR-3 suggests a role in lymphatic vascular development
    • KUKK, E., A. LYMBOUSSAKI, S. TAIRA, et al. 1996. VEGF-C receptor binding and pattern of expression with VEGFR-3 suggests a role in lymphatic vascular development. Development 122: 3829-3837.
    • (1996) Development , vol.122 , pp. 3829-3837
    • Kukk, E.1    Lymboussaki, A.2    Taira, S.3
  • 15
    • 0035122695 scopus 로고    scopus 로고
    • Inhibition of lymphangiogenesis with resulting lymphedema in transgenic mice expressing soluble VEGF-receptor-3
    • MAKINEN, T., L. JUSSILA, T. VEIKKOLA, et al. 2001. Inhibition of lymphangiogenesis with resulting lymphedema in transgenic mice expressing soluble VEGF-receptor-3. Nature Med. 7: 199-205.
    • (2001) Nature Med. , vol.7 , pp. 199-205
    • Makinen, T.1    Jussila, L.2    Veikkola, T.3
  • 16
    • 0001233752 scopus 로고
    • Congenital hereditary lymphedema in the dog. Clinical and genetic studies
    • PATTERSON, D.F., W. MEDWAY, H. LUGINBUHL & S. CHACKO. 1967. Congenital hereditary lymphedema in the dog. Clinical and genetic studies. J. Med. Genet. 4: 145-152.
    • (1967) J. Med. Genet. , vol.4 , pp. 145-152
    • Patterson, D.F.1    Medway, W.2    Luginbuhl, H.3    Chacko, S.4
  • 17
    • 0012696599 scopus 로고
    • Congenital hereditary lymphedema in the dog. Pathological studies
    • LUGINBUHL, H., S.K. CHACKO, D.F. PATTERSON & W. MEDWAY. 1967. Congenital hereditary lymphedema in the dog. Pathological studies. J. Med. Genet. 4: 153-165.
    • (1967) J. Med. Genet. , vol.4 , pp. 153-165
    • Luginbuhl, H.1    Chacko, S.K.2    Patterson, D.F.3    Medway, W.4
  • 18
    • 0018147544 scopus 로고
    • Congenital hereditary lymphedema in the pig
    • VAN DER PUTTE, S.C. 1978. Congenital hereditary lymphedema in the pig. Lymphology 11: 1-9.
    • (1978) Lymphology , vol.11 , pp. 1-9
    • Van Der Putte, S.C.1
  • 19
    • 0001576947 scopus 로고
    • Congenital lymphatic oedema in Ayrshire calves
    • MORRIS, B., D.C. BLOOD, W.R. SIDMAN, et al. 1954. Congenital lymphatic oedema in Ayrshire calves. Austr. J. Exp. Biol. 32: 265-274.
    • (1954) Austr. J. Exp. Biol. , vol.32 , pp. 265-274
    • Morris, B.1    Blood, D.C.2    Sidman, W.R.3
  • 21
    • 0002909516 scopus 로고
    • Gene order of chy-vt-re on mouse chromosome 11
    • LYON, M.F. & P.H. GLENISTER. 1986. Gene order of chy-vt-re on mouse chromosome 11. Mouse News Lett. 74: 96.
    • (1986) Mouse News Lett. , vol.74 , pp. 96
    • Lyon, M.F.1    Glenister, P.H.2
  • 22
  • 23
    • 17744396472 scopus 로고    scopus 로고
    • Signaling via vascular endothelial growth factor receptor-3 is sufficient for lymphangiogenesis in transgenic mice
    • VEIKKOLA, T., L. JUSSILA, T. MAKINEN, et al. 2001. Signaling via vascular endothelial growth factor receptor-3 is sufficient for lymphangiogenesis in transgenic mice. EMBO J. 20: 1223-1231.
    • (2001) EMBO J. , vol.20 , pp. 1223-1231
    • Veikkola, T.1    Jussila, L.2    Makinen, T.3
  • 24
    • 0029963007 scopus 로고    scopus 로고
    • Unbalanced translocation in a mother and her son in one of two 5;10 translocation families
    • BARBER, J.C., I.K. TEMPLE, P.L. CAMPBELL, et al. 1996. Unbalanced translocation in a mother and her son in one of two 5;10 translocation families. Am. J. Med. Genet. 62: 84-90.
    • (1996) Am. J. Med. Genet. , vol.62 , pp. 84-90
    • Barber, J.C.1    Temple, I.K.2    Campbell, P.L.3
  • 25
    • 0032545202 scopus 로고    scopus 로고
    • Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6
    • GROEN, S.E., K.G. DREWES, E.G. DE BOER, et al. 1998. Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6. Am. J. Med. Genet. 80: 448-453.
    • (1998) Am. J. Med. Genet. , vol.80 , pp. 448-453
    • Groen, S.E.1    Drewes, K.G.2    De Boer, E.G.3
  • 26
    • 0035854367 scopus 로고    scopus 로고
    • Endocytosis and signaling, an inseparable partnership
    • DI FIORE, P.P. & P. DE CAMILLI. 2001. Endocytosis and signaling, an inseparable partnership. Cell 106: 1-4.
    • (2001) Cell , vol.106 , pp. 1-4
    • Fiore, D.I.1    De Camilli, P.2
  • 27
    • 0021799963 scopus 로고
    • Primary lymphedema in children and adolescents: A follow-up study and review
    • SMELTZER, D.M., G.B. STICKLER & A. SCHIRGER. 1985. Primary lymphedema in children and adolescents: A follow-up study and review. Pediatrics 76: 206-218.
    • (1985) Pediatrics , vol.76 , pp. 206-218
    • Smeltzer, D.M.1    Stickler, G.B.2    Schirger, A.3
  • 29
    • 84924644210 scopus 로고
    • Primary lymphedema: Clinical and lymphangiographic studies of a series of 107 patients in which the lower limbs were affected
    • KINMONTH, J.B., G.W. TAYLOR & G.D. TRACY. 1957. Primary lymphedema: Clinical and lymphangiographic studies of a series of 107 patients in which the lower limbs were affected. Br. J. Surg. 45: 1-10.
    • (1957) Br. J. Surg. , vol.45 , pp. 1-10
    • Kinmonth, J.B.1    Taylor, G.W.2    Tracy, G.D.3
  • 30
    • 0017640585 scopus 로고
    • Surgical management of thirty-nine children with lymphedema
    • FEINS, N.R., R. RUBIN, T. CRAIS & J.F. O'CONNOR. 1977. Surgical management of thirty-nine children with lymphedema. J. Pediatr. Surg. 12: 471-476.
    • (1977) J. Pediatr. Surg. , vol.12 , pp. 471-476
    • Feins, N.R.1    Rubin, R.2    Crais, T.3    O'Connor, J.F.4
  • 31
    • 0023129482 scopus 로고
    • Primary lymphoedema when found with distichiasis is of the type defined as bilateral hyperplasia by lymphography
    • DALE, R.F. 1987. Primary lymphoedema when found with distichiasis is of the type defined as bilateral hyperplasia by lymphography. J. Med. Genet. 24: 170-171.
    • (1987) J. Med. Genet. , vol.24 , pp. 170-171
    • Dale, R.F.1
  • 32
    • 0001485830 scopus 로고
    • A new syndrome combining pterygium colli with developmental abnormalities of the eyelids and lymphatics of the lower limbs
    • FALLS, H.F. & E.D. KERTESZ. 1964. A new syndrome combining pterygium colli with developmental abnormalities of the eyelids and lymphatics of the lower limbs. Trans. Am. Ophthalmic Soc. 62: 248-275.
    • (1964) Trans. Am. Ophthalmic Soc. , vol.62 , pp. 248-275
    • Falls, H.F.1    Kertesz, E.D.2
  • 33
    • 0014125816 scopus 로고
    • Congenital spinal extradural cyst in two siblings
    • CHYNN, K.Y. 1967. Congenital spinal extradural cyst in two siblings. Am. J. Roentgen 101: 204-215.
    • (1967) Am. J. Roentgen. , vol.101 , pp. 204-215
    • Chynn, K.Y.1
  • 34
    • 0018891609 scopus 로고
    • Syndrome of lymphoedema and distichiasis
    • PAP, Z., T. BIRO, L. SZABO & Z. PAPP. 1980. Syndrome of lymphoedema and distichiasis. Hum. Genet. 53: 309-310.
    • (1980) Hum. Genet. , vol.53 , pp. 309-310
    • Pap, Z.1    Biro, T.2    Szabo, L.3    Papp, Z.4
  • 35
    • 0019993933 scopus 로고
    • Congenital heart disease in patients with primary lymphedemas
    • CORBETT, C.R.R., R.F. DALE, D.J. COLTART & J.B. KINMOUTH. 1982. Congenital heart disease in patients with primary lymphedemas. Lymphology 15: 85-90.
    • (1982) Lymphology , vol.15 , pp. 85-90
    • Corbett, C.R.R.1    Dale, R.F.2    Coltart, D.J.3    Kinmouth, J.B.4
  • 36
    • 0021961155 scopus 로고
    • Distichiasis, congenital heart defects and mixed peripheral vascular anomalies
    • GOLDSTEIN, S., Q.H. QAZI, J. FITZGERALD, et al. 1985. Distichiasis, congenital heart defects and mixed peripheral vascular anomalies. Am. J. Med. Genet. 20: 283-294.
    • (1985) Am. J. Med. Genet. , vol.20 , pp. 283-294
    • Goldstein, S.1    Qazi, Q.H.2    Fitzgerald, J.3
  • 38
    • 0033365204 scopus 로고    scopus 로고
    • A gene for lymphedema-distichiasis maps to 16q24.3
    • MANGION, J., N. RAHMAN, S. MONSOUR, et al. 1999. A gene for lymphedema-distichiasis maps to 16q24.3. Am. J. Hum. Genet. 65: 427-432.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 427-432
    • Mangion, J.1    Rahman, N.2    Monsour, S.3
  • 39
    • 0033833385 scopus 로고    scopus 로고
    • Reduction of the genetic interval of lymphoedema-distichiasis to below 2-Mb
    • BELL, R., G. BRICE, A.H. CHILD, et al. 2000. Reduction of the genetic interval of lymphoedema-distichiasis to below 2-Mb. J. Med. Genet. 37: 725-726.
    • (2000) J. Med. Genet. , vol.37 , pp. 725-726
    • Bell, R.1    Brice, G.2    Child, A.H.3
  • 40
    • 0033646615 scopus 로고    scopus 로고
    • Mutations in FOXC2, a forkhead family transcription factor, are responsible for hereditary lymphedema-distichiasis syndrome
    • FANG, J., S.L. DAGENAIS, R.P. ERICKSON, et al. 2000. Mutations in FOXC2, a forkhead family transcription factor, are responsible for hereditary lymphedema-distichiasis syndrome. Am. J. Hum. Genet. 67: 1382-1388.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 1382-1388
    • Fang, J.1    Dagenais, S.L.2    Erickson, R.P.3
  • 41
    • 0035873625 scopus 로고    scopus 로고
    • Truncating mutation in FOXC2 cause multiple lymphedema syndromes
    • FINEGOLD, D.N., M.A. KIMAK, E.C. LAWRENCE, et al. 2001. Truncating mutation in FOXC2 cause multiple lymphedema syndromes. Hum. Mol. Genet. 10: 1185-1189.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 1185-1189
    • Finegold, D.N.1    Kimak, M.A.2    Lawrence, E.C.3
  • 42
    • 0034754536 scopus 로고    scopus 로고
    • Clinical heterogeneity in lymphedema-distichiasis with FOXC2 truncating mutations
    • ERICKSON, R.P., S.L. DAGENAIS, M.S. CAULDER, et al. 2001. Clinical heterogeneity in lymphedema-distichiasis with FOXC2 truncating mutations. J. Med. Genet. 38: 761-766.
    • (2001) J. Med. Genet. , vol.38 , pp. 761-766
    • Erickson, R.P.1    Dagenais, S.L.2    Caulder, M.S.3
  • 43
    • 17844375103 scopus 로고    scopus 로고
    • Analysis of lymphedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene
    • BELL, R., G. BRICE, A.H. CHILD, et al. 2001. Analysis of lymphedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene. Hum. Genet. 108: 546-551.
    • (2001) Hum. Genet. , vol.108 , pp. 546-551
    • Bell, R.1    Brice, G.2    Child, A.H.3
  • 44
    • 0024973841 scopus 로고
    • The homeotic gene fork head encodes a nuclear protein and is expressed in the terminal regions of the Drosophila embryo
    • WEIGEL, D., G. JURGENS, F. KUTTNER, et al. 1989. The homeotic gene fork head encodes a nuclear protein and is expressed in the terminal regions of the Drosophila embryo. Cell 57: 645-658.
    • (1989) Cell , vol.57 , pp. 645-658
    • Weigel, D.1    Jurgens, G.2    Kuttner, F.3
  • 45
    • 0030991153 scopus 로고    scopus 로고
    • The winged helix transcription factor MFH1 is required for proliferation and patterning of paraxial mesoderm in the mouse embryo
    • WINNIER, G.E., L. HARGETT & B.L.M. HOGAN. 1997. The winged helix transcription factor MFH1 is required for proliferation and patterning of paraxial mesoderm in the mouse embryo. Genes Development 11: 926-940.
    • (1997) Genes Development , vol.11 , pp. 926-940
    • Winnier, G.E.1    Hargett, L.2    Hogan, B.L.M.3
  • 46
    • 0030696897 scopus 로고    scopus 로고
    • Essential role of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis
    • IIDA, K., H. KOSEKI, H. KAKINUMA, et al. 1997. Essential role of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis. Development 124: 4627-4638.
    • (1997) Development , vol.124 , pp. 4627-4638
    • Iida, K.1    Koseki, H.2    Kakinuma, H.3
  • 47
    • 18144437181 scopus 로고    scopus 로고
    • Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development
    • SMITH, R.S., A. ZABALETA, T. KUME, et al. 2000. Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. Hum. Mol. Genet. 9: 1021-1032.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1021-1032
    • Smith, R.S.1    Zabaleta, A.2    Kume, T.3
  • 48
    • 17944377509 scopus 로고    scopus 로고
    • FOXC2 is a winged helix gene that counteracts obesity, hypertriglyceridemia, and diet-induced insulin resistance
    • CEDERBERG, A., L.M. GRONNING, B. AHREN, et al. 2001. FOXC2 is a winged helix gene that counteracts obesity, hypertriglyceridemia, and diet-induced insulin resistance. Cell 106: 563-573.
    • (2001) Cell , vol.106 , pp. 563-573
    • Cederberg, A.1    Gronning, L.M.2    Ahren, B.3
  • 49
    • 0023229575 scopus 로고
    • Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature
    • WITT, D.R., H.E. HOYME, J. ZONANA, et al. 1987. Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature. Am. J. Med. Genet. 27: 841-856.
    • (1987) Am. J. Med. Genet. , vol.27 , pp. 841-856
    • Witt, D.R.1    Hoyme, H.E.2    Zonana, J.3
  • 50
    • 0028077697 scopus 로고
    • Mapping a gene for Noonan syndrome to the long arm of chromosome 12
    • JAMIESON, C.R., I. VAN DER BURGT, A.F. BRADY, et al. 1994. Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nature Genet. 8: 357-360.
    • (1994) Nature Genet. , vol.8 , pp. 357-360
    • Jamieson, C.R.1    Van Der Burgt, I.2    Brady, A.F.3
  • 51
    • 0030730348 scopus 로고    scopus 로고
    • Further delineation of the critical region for Noonan syndrome on the long arm of chromosome 12
    • BRADY, A.F., C.R. JAMIESON, I. VAN DER BURGT, et al. 1997. Further delineation of the critical region for Noonan syndrome on the long arm of chromosome 12. Eur. J. Hum. Genet. 5: 336-337.
    • (1997) Eur. J. Hum. Genet. , vol.5 , pp. 336-337
    • Brady, A.F.1    Jamieson, C.R.2    Van Der Burgt, I.3
  • 52
    • 0031937054 scopus 로고    scopus 로고
    • Fine mapping of Noonan/cardio-facial cutaneous syndrome in a larger family
    • LEGIUS, E., E. SCHOLLEN, G. MATTHIJS & J.P. FRYNS. 1998. Fine mapping of Noonan/cardio-facial cutaneous syndrome in a larger family. Eur. J. Hum. Genet. 6: 32-37.
    • (1998) Eur. J. Hum. Genet. , vol.6 , pp. 32-37
    • Legius, E.1    Schollen, E.2    Matthijs, G.3    Fryns, J.P.4
  • 53
    • 18344385476 scopus 로고    scopus 로고
    • Mutations in PTPN11, encoding the protein tyrosine phosphatase SPH-2, cause Noonan syndrome
    • TARTAGLIA, M., E.L. MEHLER, R. GOLDBERG, et al. 2001. Mutations in PTPN11, encoding the protein tyrosine phosphatase SPH-2, cause Noonan syndrome. Nature Genet. 29: 465-468.
    • (2001) Nature Genet. , vol.29 , pp. 465-468
    • Tartaglia, M.1    Mehler, E.L.2    Goldberg, R.3
  • 54
    • 0033604644 scopus 로고    scopus 로고
    • SPH-2 tyrosine phosphatase: Signaling one cell or many
    • FENG, G.S. 1999. SPH-2 tyrosine phosphatase: signaling one cell or many. Exp. Cell Res. 253: 47-54.
    • (1999) Exp. Cell Res. , vol.253 , pp. 47-54
    • Feng, G.S.1
  • 56
    • 0034105786 scopus 로고    scopus 로고
    • Cytoplasmic protein tyrosine phosphatase SHP-1 and SHR2: Regulators of B cell signal transduction
    • TAMIR, I., J.M. DALPORTO & J.C. CAMBIER. 2000. Cytoplasmic protein tyrosine phosphatase SHP-1 and SHR2: regulators of B cell signal transduction. Curr. Opin. Immunol. 12: 307-315.
    • (2000) Curr. Opin. Immunol. , vol.12 , pp. 307-315
    • Tamir, I.1    Dalporto, J.M.2    Cambier, J.C.3
  • 58
    • 0014382981 scopus 로고
    • Hereditary recurrent intrahepatic cholestasis from birth
    • AAGENAES, O., C.B. VAN DER HAGEN & S. REFSUM. 1968. Hereditary recurrent intrahepatic cholestasis from birth. Arch. Dis. Child 43: 646-657.
    • (1968) Arch. Dis. Child , vol.43 , pp. 646-657
    • Aagenaes, O.1    Van Der Hagen, C.B.2    Refsum, S.3
  • 59
    • 0014865043 scopus 로고
    • Lymphedema in hereditary recurrent cholestasis from birth
    • AAGENAES, O., H. SIGSTAD & R. BJORN-HANSEN. 1970. Lymphedema in hereditary recurrent cholestasis from birth. Arch. Dis. Child 45: 690-695.
    • (1970) Arch. Dis. Child , vol.45 , pp. 690-695
    • Aagenaes, O.1    Sigstad, H.2    Bjorn-Hansen, R.3
  • 60
    • 0031948707 scopus 로고    scopus 로고
    • Hereditary cholestasis with lymphedema
    • AAGENAES, O. 1998. Hereditary cholestasis with lymphedema. Scand. J. Gastroenterol. 33: 335-345.
    • (1998) Scand. J. Gastroenterol. , vol.33 , pp. 335-345
    • Aagenaes, O.1
  • 61
    • 0033795071 scopus 로고    scopus 로고
    • Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6 cM interval on chromosome 15q
    • BULL, L.N., E. ROCHE, E.J. SONG, et al. 2000. Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6 cM interval on chromosome 15q. Am. J. Hum. Genet. 67: 994-999.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 994-999
    • Bull, L.N.1    Roche, E.2    Song, E.J.3
  • 62
    • 0024792730 scopus 로고
    • Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation
    • HENNEKAM, R.C.M., R.A. GEERDINK, B.C.J. HAMEL, et al. 1989. Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. Am. J. Med. Genet. 34: 593-600.
    • (1989) Am. J. Med. Genet. , vol.34 , pp. 593-600
    • Hennekam, R.C.M.1    Geerdink, R.A.2    Hamel, B.C.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.