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Volumn 199, Issue 2, 1998, Pages 358-365

Molecular genetics of C1 inhibitor

(1)  Tosi, Mario a,b  

b NONE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COMPLEMENT COMPONENT C1S INHIBITOR; MESSENGER RNA;

EID: 0031712910     PISSN: 01712985     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0171-2985(98)80040-5     Document Type: Article
Times cited : (129)

References (23)
  • 2
    • 0004363552 scopus 로고
    • Molecular genetics of C1-inhibitor and hereditary angio-oedema
    • K. WHALEY, M. LOSS and J. M. WEILER
    • TOSI, M. 1993. Molecular genetics of C1-inhibitor and hereditary angio-oedema. In Complement in Health and Disease, second edition vol. K. WHALEY, M. LOSS and J. M. WEILER. p. 245-267.
    • (1993) Complement in Health and Disease, Second Edition , pp. 245-267
    • Tosi, M.1
  • 3
    • 0027448476 scopus 로고
    • C1-inhibitor and its genetic alterations in hereditary angio-neurotic edema
    • DONALDSON, V. H. 1989. C1-inhibitor and its genetic alterations in hereditary angio-neurotic edema. Intern. Rev. Immunol. 10: 1-16.
    • (1989) Intern. Rev. Immunol. , vol.10 , pp. 1-16
    • Donaldson, V.H.1
  • 4
    • 0024363287 scopus 로고
    • Hereditary and acquired deficiencies of C1 inhibitor
    • DAVIS, A. 1989. Hereditary and acquired deficiencies of C1 inhibitor. Immunodeficiency Rev. 1: 207-226.
    • (1989) Immunodeficiency Rev. , vol.1 , pp. 207-226
    • Davis, A.1
  • 5
    • 0029816014 scopus 로고    scopus 로고
    • Exhaustive mutation scanning of the C1 inhibitor gene reveals new genotype-phenotype correlations in angioedema
    • VERPY, E., M. BIASOTTO, M. BRAI, G. MISIANO, T. MEO, and M. TOSI. 1996. Exhaustive mutation scanning of the C1 inhibitor gene reveals new genotype-phenotype correlations in angioedema. Am. J. Hum. Genet. 59: 308-319.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 308-319
    • Verpy, E.1    Biasotto, M.2    Brai, M.3    Misiano, G.4    Meo, T.5    Tosi, M.6
  • 6
    • 0025852429 scopus 로고
    • Complete nucleotide sequence for the C1 inhibitor with an unusually high density of Alu elements
    • CARTER, P. E., C. DUPONCHEL, M. TOSI, and J. E. FOTHERGILL. 1991. Complete nucleotide sequence for the C1 inhibitor with an unusually high density of Alu elements. Eur. J. Biochem. 197: 301-308.
    • (1991) Eur. J. Biochem. , vol.197 , pp. 301-308
    • Carter, P.E.1    Duponchel, C.2    Tosi, M.3    Fothergill, J.E.4
  • 7
    • 0025174888 scopus 로고
    • Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements
    • STOPPA-LYONNET, D., P. E. CARTER, T. MEO, and M. TOSI. 1990. Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements. Proc. Natl. Acad. Sci. USA 87: 1551-1555.
    • (1990) Proc. Natl. Acad. Sci. USA , vol.87 , pp. 1551-1555
    • Stoppa-Lyonnet, D.1    Carter, P.E.2    Meo, T.3    Tosi, M.4
  • 8
    • 0025647546 scopus 로고
    • Recombinations between Alu repeat sequences that result in partial deletions within the C1 inhibitor gene
    • ARIGA, T., P. E. CARTER, and A. E. DAVIS III. 1990. Recombinations between Alu repeat sequences that result in partial deletions within the C1 inhibitor gene. Genomics 8: 607-613.
    • (1990) Genomics , vol.8 , pp. 607-613
    • Ariga, T.1    Carter, P.E.2    Davis III, A.E.3
  • 10
    • 0028348715 scopus 로고
    • Efficient detection of point mutations on color-codedstrands of target DNA
    • VERPY, E., M. BIASOTTO, T. MEO, and M. TOSI. 1994. Efficient detection of point mutations on color-codedstrands of target DNA. Proc. Natl. Acad. Sci. USA 91: 1873-1877.
    • (1994) Proc. Natl. Acad. Sci. USA , vol.91 , pp. 1873-1877
    • Verpy, E.1    Biasotto, M.2    Meo, T.3    Tosi, M.4
  • 11
    • 0027829618 scopus 로고
    • Mutations in the C1 inhibitor gene that result in Hereditary Angioneurotic Edema
    • DAVIS, A. III, J. BISSLER, and M. CICARDI. 1993. Mutations in the C1 inhibitor gene that result in Hereditary Angioneurotic Edema. Behring Inst. Mitt. 93: 313-320.
    • (1993) Behring Inst. Mitt. , vol.93 , pp. 313-320
    • Davis III, A.1    Bissler, J.2    Cicardi, M.3
  • 12
    • 0028156752 scopus 로고
    • Contiguous deletion and duplication mutations resulting in type 1 hereditary angioneurotic edema
    • BISSLER, J. J., V. H. DONALDSON, and A. E. DAVIS III. 1994. Contiguous deletion and duplication mutations resulting in type 1 hereditary angioneurotic edema. Hum. Genet. 93: 265-269.
    • (1994) Hum. Genet. , vol.93 , pp. 265-269
    • Bissler, J.J.1    Donaldson, V.H.2    Davis III, A.E.3
  • 14
    • 0030944209 scopus 로고    scopus 로고
    • The sequence of a cDNA encoding functional murine C1-inhibitor protein
    • RUSSELL, J. A., WHALEY, K., and HEAPHY, S. 1997. The sequence of a cDNA encoding functional murine C1-inhibitor protein. Biochimica et Biophysica Acta 1352: 156-160.
    • (1997) Biochimica et Biophysica Acta , vol.1352 , pp. 156-160
    • Russell, J.A.1    Whaley, K.2    Heaphy, S.3
  • 15
    • 0029589824 scopus 로고
    • What do dysfunctional serpins tell us about molecular mobility and disease
    • STEIN, P. E., and R. W. CARRELL. 1995. What do dysfunctional serpins tell us about molecular mobility and disease. Nature Struc. Biol. 2: 96-113.
    • (1995) Nature Struc. Biol. , vol.2 , pp. 96-113
    • Stein, P.E.1    Carrell, R.W.2
  • 16
    • 0028804702 scopus 로고
    • Crucial residues in the Carboxy-terminal End of C1 inhibitor Revealed by Pathogenic Mutants Impaired in Secretion or Function
    • VERPY, E. 1995. Crucial residues in the Carboxy-terminal End of C1 inhibitor Revealed by Pathogenic Mutants Impaired in Secretion or Function. J. Clin. Invest. 95: 350-359.
    • (1995) J. Clin. Invest. , vol.95 , pp. 350-359
    • Verpy, E.1
  • 17
    • 0028855465 scopus 로고
    • COOH-terminal substitutions in the serpin C1 inhibitor that cause loop overinsertion and subsequent multimerization
    • ELDERING, E., E. VERPY, D. ROEM, T. MEO, and M. TOSI. 1995. COOH-terminal substitutions in the serpin C1 inhibitor that cause loop overinsertion and subsequent multimerization. J. Biol. Chem. 270: 2579-2587.
    • (1995) J. Biol. Chem. , vol.270 , pp. 2579-2587
    • Eldering, E.1    Verpy, E.2    Roem, D.3    Meo, T.4    Tosi, M.5
  • 18
    • 0021281135 scopus 로고
    • The catabolism of C1-inhibitor and the pathogenesis of hereditary angio-edema
    • LACHMANN, P. J., and F. S. ROSEN. 1984. The catabolism of C1-inhibitor and the pathogenesis of hereditary angio-edema. Acta Pathol. Microbiol. Immunol. Scand. 284: 35-39.
    • (1984) Acta Pathol. Microbiol. Immunol. Scand. , vol.284 , pp. 35-39
    • Lachmann, P.J.1    Rosen, F.S.2
  • 19
    • 0027404944 scopus 로고
    • Transinhibition of C1 inhibitor net synthesis in type I hereditary angioneurotic edema
    • KRAMER, J., F. S. ROSEN, H. R. COLTEN, K. RAJCZY, and R. C. STRUNK. 1993. Transinhibition of C1 inhibitor net synthesis in type I hereditary angioneurotic edema. J. Clin. Invest. 91: 1258-1262.
    • (1993) J. Clin. Invest. , vol.91 , pp. 1258-1262
    • Kramer, J.1    Rosen, F.S.2    Colten, H.R.3    Rajczy, K.4    Strunk, R.C.5
  • 20
    • 0030014781 scopus 로고    scopus 로고
    • Impaired production of both normal and mutant C1 inhibitor proteins in type I hereditary angioedema with duplication in exon 8
    • ERNST, S., A. CIRCOLO, A. DAVIS, K. GHEESLING-MULLIS, M. FLIESLER, and R. STRUNK. 1996. Impaired production of both normal and mutant C1 inhibitor proteins in type I hereditary angioedema with duplication in exon 8. J. Immunol. 157: 405-410.
    • (1996) J. Immunol. , vol.157 , pp. 405-410
    • Ernst, S.1    Circolo, A.2    Davis, A.3    Gheesling-Mullis, K.4    Fliesler, M.5    Strunk, R.6
  • 21
    • 0028200788 scopus 로고
    • Transcriptional regulation of the C1 inhibitor gene by γ-interferon
    • ZAHEDI, K., A. E. PRADA, and A. E. DAVIS III. 1994. Transcriptional regulation of the C1 inhibitor gene by γ-interferon. J. Biol. Chem. 269: 9669-9674.
    • (1994) J. Biol. Chem. , vol.269 , pp. 9669-9674
    • Zahedi, K.1    Prada, A.E.2    Davis III, A.E.3
  • 22
    • 85030345426 scopus 로고    scopus 로고
    • Expression and induction studies of the human C1-INH gene in transgenic mice
    • VINCI, G., TOSI, M., DUPONCHEL, C., LENER, M., and T. MEO. 1996. Expression and induction studies of the human C1-INH gene in transgenic mice. Mol. Immunol.
    • (1996) Mol. Immunol.
    • Vinci, G.1    Tosi, M.2    Duponchel, C.3    Lener, M.4    Meo, T.5
  • 23
    • 85030341825 scopus 로고    scopus 로고
    • Testosterone does not affect expression of C1 inhibitor from either the endogeneous or the human C1 INH gene in transgenic mice. 6th European Meeting on Complement and Human Disease
    • VINCI, G., DUPONCHEL, C., LENER, M., TOSIE, M., and T. MEO. 1997. Testosterone does not affect expression of C1 inhibitor from either the endogeneous or the human C1 INH gene in transgenic mice. 6th European Meeting on Complement and Human Disease. Exp. Clin. Immunogenet. 14: 30.
    • (1997) Exp. Clin. Immunogenet. , vol.14 , pp. 30
    • Vinci, G.1    Duponchel, C.2    Lener, M.3    Tosie, M.4    Meo, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.