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Volumn 5, Issue 9, 1996, Pages 1269-1277

A 27 base-pair deletion of the anti-Mullerian type II receptor gene is the most common cause of the persistent Mullerian duct syndrome

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH FACTOR RECEPTOR; MUELLERIAN INHIBITING FACTOR; PROTEIN SERINE THREONINE KINASE;

EID: 0029811588     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.9.1269     Document Type: Article
Times cited : (131)

References (33)
  • 1
    • 0000009634 scopus 로고
    • Problems of fetal endocrinology: The gonadal and hypophyseal hormones
    • Jost, A. (1953) Problems of fetal endocrinology: the gonadal and hypophyseal hormones. Rec. Progr. Horm. Res., 8, 379-418.
    • (1953) Rec. Progr. Horm. Res. , vol.8 , pp. 379-418
    • Jost, A.1
  • 7
    • 0027987271 scopus 로고
    • A hypothesis to explain abnormal gonadal descent in persistent Müllerian duct syndrome
    • Hutson, J.M. and Baker, M.L. (1994) A hypothesis to explain abnormal gonadal descent in persistent Müllerian duct syndrome. Pediatr. Surg. Int., 9, 542-543.
    • (1994) Pediatr. Surg. Int. , vol.9 , pp. 542-543
    • Hutson, J.M.1    Baker, M.L.2
  • 9
    • 0029838859 scopus 로고    scopus 로고
    • A syndrome exhibiting lipoatrophic diabetes, vitamin D resistant rickets, and persistent Müllerian ducts in a Turkish boy born to consanguineous parents
    • in press
    • Van Maldergem, L., Bachy, A., Feldman, D., Bouillon, R., Maassen, J., Dreyer, M., Rey, R., Holm, C. and Gillerot, Y. (1996) A syndrome exhibiting lipoatrophic diabetes, vitamin D resistant rickets, and persistent Müllerian ducts in a Turkish boy born to consanguineous parents. Am. J. Med. Genet., (in press).
    • (1996) Am. J. Med. Genet.
    • Van Maldergem, L.1    Bachy, A.2    Feldman, D.3    Bouillon, R.4    Maassen, J.5    Dreyer, M.6    Rey, R.7    Holm, C.8    Gillerot, Y.9
  • 11
    • 0027193630 scopus 로고
    • The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
    • Sheffield, V.C., Beck, J.S., Kwitek, A.E., Sandstrom, D.W. and Stone, E.M. (1993) The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics, 16, 325-332.
    • (1993) Genomics , vol.16 , pp. 325-332
    • Sheffield, V.C.1    Beck, J.S.2    Kwitek, A.E.3    Sandstrom, D.W.4    Stone, E.M.5
  • 12
    • 0027930903 scopus 로고
    • Formation of hetero-oligomeric complexes of type I and type II receptors for transforming growth factor-β
    • Yamashita, H., Tendijke, P., Franzen, P., Miyazono, K. and Heldin, C.H. (1994) Formation of hetero-oligomeric complexes of type I and type II receptors for transforming growth factor-β. J. Biol. Chem., 269, 20172-20178.
    • (1994) J. Biol. Chem. , vol.269 , pp. 20172-20178
    • Yamashita, H.1    Tendijke, P.2    Franzen, P.3    Miyazono, K.4    Heldin, C.H.5
  • 13
    • 0030030373 scopus 로고    scopus 로고
    • Complementation between kinase-defective and activation-defective TGF-β receptors reveals a novel form of receptor cooperatively essential for signaling
    • Weis-Garcia, F. and Massagué, J. (1996) Complementation between kinase-defective and activation-defective TGF-β receptors reveals a novel form of receptor cooperatively essential for signaling. EMBO J., 15, 276-289.
    • (1996) EMBO J. , vol.15 , pp. 276-289
    • Weis-Garcia, F.1    Massagué, J.2
  • 14
    • 0027408040 scopus 로고
    • Müllerian inhibiting substance requires its N-terminal domain for maintenance of biological activity, a novel finding within the TGF-β superfamily
    • Wilson, C.A., di Clemente, N., Ehrenfels, C., Pepinsky, R.B., Josso, N., Vigier, B. and Cate, R.L. (1993) Müllerian inhibiting substance requires its N-terminal domain for maintenance of biological activity, a novel finding within the TGF-β superfamily. Mol. Endocrinol., 7, 247-257.
    • (1993) Mol. Endocrinol. , vol.7 , pp. 247-257
    • Wilson, C.A.1    Di Clemente, N.2    Ehrenfels, C.3    Pepinsky, R.B.4    Josso, N.5    Vigier, B.6    Cate, R.L.7
  • 16
    • 0025762012 scopus 로고
    • Gene deletions causing human genetic disease : Mechanisms or mutagenesis and the role of the local DNA sequence environment
    • Krawczak, M. and Cooper, D.N. (1991) Gene deletions causing human genetic disease : mechanisms or mutagenesis and the role of the local DNA sequence environment. Hum. Genet., 86, 425-441.
    • (1991) Hum. Genet. , vol.86 , pp. 425-441
    • Krawczak, M.1    Cooper, D.N.2
  • 17
    • 0025673701 scopus 로고
    • Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats
    • Vnencak-Jones, C. and Phillips, J.A.III. (1990) Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats. Science, 250, 1745-1748.
    • (1990) Science , vol.250 , pp. 1745-1748
    • Vnencak-Jones, C.1    Phillips III, J.A.2
  • 18
    • 0021918948 scopus 로고
    • Mutation in LDL receptor : Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains
    • Lehrman, M.A., Schneider, W.J., Sudhof, T.C., Brown, M.S., Goldstein, J.L. and Russell, D.W. (1985) Mutation in LDL receptor : Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science, 227, 140-146.
    • (1985) Science , vol.227 , pp. 140-146
    • Lehrman, M.A.1    Schneider, W.J.2    Sudhof, T.C.3    Brown, M.S.4    Goldstein, J.L.5    Russell, D.W.6
  • 19
    • 0027367937 scopus 로고
    • Signaling activity of transforming growth factor-β type II receptors lacking specific domains in the cytoplasmic region
    • Wieser, R., Attisano, L., Wrana, J.L. and Massagué. J. (1993) Signaling activity of transforming growth factor-β type II receptors lacking specific domains in the cytoplasmic region. Mol. Cell. Biol., 13, 7239-7247.
    • (1993) Mol. Cell. Biol. , vol.13 , pp. 7239-7247
    • Wieser, R.1    Attisano, L.2    Wrana, J.L.3    Massagué, J.4
  • 20
    • 0028910192 scopus 로고
    • Inactive type II and type I receptors for TGF-ß are dominant inhibitors of TGF-β-dependent transcription
    • Brand, T. and Schneider, M.D. (1995) Inactive type II and type I receptors for TGF-ß are dominant inhibitors of TGF-β-dependent transcription. J. Biol. Chem., 270, 8274-8284.
    • (1995) J. Biol. Chem. , vol.270 , pp. 8274-8284
    • Brand, T.1    Schneider, M.D.2
  • 21
    • 0028894025 scopus 로고
    • Disruption of transforming growth factor-β signaling by a mutation that prevents transphosphorylation within the receptor complex
    • Carcamo, J., Zentella, A. and Massagué, J. (1995) Disruption of transforming growth factor-β signaling by a mutation that prevents transphosphorylation within the receptor complex. Mol. Cell. Biol., 15, 1573-1581.
    • (1995) Mol. Cell. Biol. , vol.15 , pp. 1573-1581
    • Carcamo, J.1    Zentella, A.2    Massagué, J.3
  • 24
    • 0027300034 scopus 로고
    • A dominant-negative receptor for type-β transforming growth factors created by deletion of the kinase domain
    • Brand, T., Maclellan, W.R. and Schneider, M.D. (1993) A dominant-negative receptor for type-β transforming growth factors created by deletion of the kinase domain. J. Biol. Chem., 268, 11500-11503.
    • (1993) J. Biol. Chem. , vol.268 , pp. 11500-11503
    • Brand, T.1    Maclellan, W.R.2    Schneider, M.D.3
  • 25
    • 0028807860 scopus 로고
    • Inactivation of activin-dependent transcription by kinase-deficient activin receptors
    • Tsuchida, K., Vaughan, J.M., Wiater, E., Gaddykurten, D. and Vale, W.W. (1995) Inactivation of activin-dependent transcription by kinase-deficient activin receptors. Endocrinology, 136, 5493-5503.
    • (1995) Endocrinology , vol.136 , pp. 5493-5503
    • Tsuchida, K.1    Vaughan, J.M.2    Wiater, E.3    Gaddykurten, D.4    Vale, W.W.5
  • 27
    • 0025920616 scopus 로고
    • Anti-Müllerian hormone Bruxelles: A nonsense mutation associated with the persistent Müllerian duct syndrome
    • Knebelmann, B., Boussin, L., Guerrier, D., Legeai, L., Kahn, A., Josso, N. and Picard, J.-Y. (1991) Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome. Proc. Natl Acad. Sci. USA, 88, 3767-3771.
    • (1991) Proc. Natl Acad. Sci. USA , vol.88 , pp. 3767-3771
    • Knebelmann, B.1    Boussin, L.2    Guerrier, D.3    Legeai, L.4    Kahn, A.5    Josso, N.6    Picard, J.-Y.7
  • 28
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita, M., Suzuki, Y., Sekiya, T. and 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.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 29
    • 0027008377 scopus 로고
    • Variants of the anti-M̈llerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family
    • Carré-Eusèbe, D., Imbeaud, S., Harbison, M., New, M.I., Josso, N. and Picard, J.Y. (1992) Variants of the anti-M̈llerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family. Hum. Genet., 90, 389-394.
    • (1992) Hum. Genet. , vol.90 , pp. 389-394
    • Carré-Eusèbe, D.1    Imbeaud, S.2    Harbison, M.3    New, M.I.4    Josso, N.5    Picard, J.Y.6
  • 32
    • 0024713082 scopus 로고
    • A PCR artifact - Generation of heteroduplexes
    • Nagamine, C.M., Chan, K. and Lau, Y.F.C. (1989) A PCR artifact - generation of heteroduplexes. Am. J. Hum. Genet., 45, 337-339.
    • (1989) Am. J. Hum. Genet. , vol.45 , pp. 337-339
    • Nagamine, C.M.1    Chan, K.2    Lau, Y.F.C.3
  • 33
    • 0026345394 scopus 로고
    • Protein kinase catalytic domain sequence database: Identification of conserved features of primary structure and classification of family members
    • Hanks, S.K. and Quinn, A.M. (1991) Protein kinase catalytic domain sequence database: identification of conserved features of primary structure and classification of family members. Methods Enzymol., 200, 38-62.
    • (1991) Methods Enzymol. , vol.200 , pp. 38-62
    • Hanks, S.K.1    Quinn, A.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.