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Volumn 12, Issue 11, 1998, Pages 1651-1660

Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia

Author keywords

[No Author keywords available]

Indexed keywords

CHORIONIC GONADOTROPIN RECEPTOR; LUTEINIZING HORMONE;

EID: 14444287261     PISSN: 08888809     EISSN: None     Source Type: Journal    
DOI: 10.1210/mend.12.11.0189     Document Type: Article
Times cited : (56)

References (42)
  • 1
    • 0003386829 scopus 로고    scopus 로고
    • The luteinizing hormone receptor
    • Payne AH, Hardy MP, Russell LD (eds) Cache River Press, Vienna, IL
    • Dufau ML 1996 The luteinizing hormone receptor. In: Payne AH, Hardy MP, Russell LD (eds) The Leydig Cell. Cache River Press, Vienna, IL, pp 333-350
    • (1996) The Leydig Cell , pp. 333-350
    • Dufau, M.L.1
  • 3
    • 0023150946 scopus 로고
    • Familial Leydig cell hypoplasia as a cause of male pseudohermaphroditism
    • El-Awady MK, Temtamy SA, Salam MA, Gad YZ 1987 Familial Leydig cell hypoplasia as a cause of male pseudohermaphroditism. Hum Hered 37:36-40
    • (1987) Hum Hered , vol.37 , pp. 36-40
    • El-Awady, M.K.1    Temtamy, S.A.2    Salam, M.A.3    Gad, Y.Z.4
  • 4
    • 0026560258 scopus 로고
    • Leydig cell hypoplasia leading to two different phenotypes: Male pseudohermaphroditism and primary hypogonadism not associated with this
    • Oxf
    • Toledo SPA 1992 Leydig cell hypoplasia leading to two different phenotypes: male pseudohermaphroditism and primary hypogonadism not associated with this. Clin Endocrinol (Oxf) 36:521-522
    • (1992) Clin Endocrinol , vol.36 , pp. 521-522
    • Toledo, S.P.A.1
  • 11
    • 8544274427 scopus 로고    scopus 로고
    • Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor
    • Misrahi M, Meduri G, Pissard S, Bouvattier C, Beau I, Loosfelt H, Jolivet A, Rappaport R, Milgrom E, Bougneres P 1997 Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor. J Clin Endocrinol Metab 62:2159-2165
    • (1997) J Clin Endocrinol Metab , vol.62 , pp. 2159-2165
    • Misrahi, M.1    Meduri, G.2    Pissard, S.3    Bouvattier, C.4    Beau, I.5    Loosfelt, H.6    Jolivet, A.7    Rappaport, R.8    Milgrom, E.9    Bougneres, P.10
  • 12
    • 0032230326 scopus 로고    scopus 로고
    • A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: Correlation between receptor activity and phenotype
    • Martens JWM, Verhoef-Post M, Abelin N, Ezabella M, Toledo SPA, Brunner HG, Themmen APN 1998 A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype. Mol Endocrinol 12:775-784
    • (1998) Mol Endocrinol , vol.12 , pp. 775-784
    • Martens, J.W.M.1    Verhoef-Post, M.2    Abelin, N.3    Ezabella, M.4    Toledo, S.P.A.5    Brunner, H.G.6    Themmen, A.P.N.7
  • 13
    • 0032230361 scopus 로고    scopus 로고
    • A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor
    • Latronico AC, Chai Y, Arnhold IJP, Liu X, Mendonca BB, Segaloff DL 1998 A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor. Mol Endocrinol 12:442-450
    • (1998) Mol Endocrinol , vol.12 , pp. 442-450
    • Latronico, A.C.1    Chai, Y.2    Arnhold, I.J.P.3    Liu, X.4    Mendonca, B.B.5    Segaloff, D.L.6
  • 14
    • 0032242279 scopus 로고    scopus 로고
    • Polymorphisms in the coding exons of the human luteinizing hormone receptor gene
    • Mutation in Brief #124, on line
    • Wu SM, Jose M, Hallermeier K, Rennert OM, Chan WY 1997 Polymorphisms in the coding exons of the human luteinizing hormone receptor gene. Hum Mutat 11:333-334 [Mutation in Brief #124, on line]
    • (1997) Hum Mutat , vol.11 , pp. 333-334
    • Wu, S.M.1    Jose, M.2    Hallermeier, K.3    Rennert, O.M.4    Chan, W.Y.5
  • 17
    • 0344181377 scopus 로고
    • PCR with 7-deaza-2′-deoxyguanosine triphosphate
    • Innis MA, Gelfand DH, Sninsky JJ, White TJ (eds) Academic Press, San Diego, CA
    • Innis MA 1990 PCR with 7-deaza-2′-deoxyguanosine triphosphate. In: Innis MA, Gelfand DH, Sninsky JJ, White TJ (eds) PCR Protocols. Academic Press, San Diego, CA, pp 54-59
    • (1990) PCR Protocols , pp. 54-59
    • Innis, M.A.1
  • 19
    • 0029093909 scopus 로고
    • Model of human chorionic gonadotropin and lutropin receptor interaction that explains signal transduction of the glycoprotein hormones
    • Moyle WR, Campbell RK, Rao SNV, Ayad NG, Bernard MP, Han Y, Wang Y 1995 Model of human chorionic gonadotropin and lutropin receptor interaction that explains signal transduction of the glycoprotein hormones. J Biol Chem 270:20020-20031
    • (1995) J Biol Chem , vol.270 , pp. 20020-20031
    • Moyle, W.R.1    Campbell, R.K.2    Rao, S.N.V.3    Ayad, N.G.4    Bernard, M.P.5    Han, Y.6    Wang, Y.7
  • 20
    • 0030596173 scopus 로고    scopus 로고
    • Advances in the molecular understanding of gonadotropins-receptors interactions
    • Tayare NE 1996 Advances in the molecular understanding of gonadotropins-receptors interactions. Mol Cell Endocrinol 125:65-70
    • (1996) Mol Cell Endocrinol , vol.125 , pp. 65-70
    • Tayare, N.E.1
  • 21
    • 0029757509 scopus 로고    scopus 로고
    • Determination of residues important in hormone binding to the extracellular domain of the luteinizing hormone/chorionic gonadotropin receptor by site-directed mutagenesis and modeling
    • Bhowmick N, Huang J, Puett D, Isaacs NW, Lapthorn AJ 1996 Determination of residues important in hormone binding to the extracellular domain of the luteinizing hormone/chorionic gonadotropin receptor by site-directed mutagenesis and modeling. Mol Endocrinol 10:1147-1159
    • (1996) Mol Endocrinol , vol.10 , pp. 1147-1159
    • Bhowmick, N.1    Huang, J.2    Puett, D.3    Isaacs, N.W.4    Lapthorn, A.J.5
  • 24
    • 0025847496 scopus 로고
    • Amino-terminal leucine-rich repeats in gonadotropin receptors determine hormone selectivity
    • Braun T, Schofield PR, Sprengel R 1991 Amino-terminal leucine-rich repeats in gonadotropin receptors determine hormone selectivity. EMBO J 10:1885-1890
    • (1991) EMBO J , vol.10 , pp. 1885-1890
    • Braun, T.1    Schofield, P.R.2    Sprengel, R.3
  • 25
    • 0029873571 scopus 로고    scopus 로고
    • Trinucleotide instability: A repeating theme in human inherited disorders
    • Gusella JF, MacDonald ME 1996 Trinucleotide instability: a repeating theme in human inherited disorders. Annu Rev Med 47:201-209
    • (1996) Annu Rev Med , vol.47 , pp. 201-209
    • Gusella, J.F.1    MacDonald, M.E.2
  • 26
    • 0030664357 scopus 로고    scopus 로고
    • Dynamic mutation: Possible mechanisms and significance in human disease
    • Richards RI, Sutherland GR 1997 Dynamic mutation: possible mechanisms and significance in human disease. Trends Biochem Sci 22:432-436
    • (1997) Trends Biochem Sci , vol.22 , pp. 432-436
    • Richards, R.I.1    Sutherland, G.R.2
  • 28
  • 29
    • 0022518316 scopus 로고
    • H segmental elements during vertebrate evolution
    • H segmental elements during vertebrate evolution. Nature 320:546-549
    • (1986) Nature , vol.320 , pp. 546-549
    • Hinds, K.R.1    Litman, G.W.2
  • 31
    • 0025986719 scopus 로고
    • The pregnancy-specific β1-glycoprotein family
    • Chan WY 1991 The pregnancy-specific β1-glycoprotein family. Adv Contracept Deliv Syst 7:21-52
    • (1991) Adv Contracept Deliv Syst , vol.7 , pp. 21-52
    • Chan, W.Y.1
  • 32
    • 0005687211 scopus 로고
    • Evolutionary and genetic origins of protein sequences
    • Creighton TE (ed) Freeman, New York, NY
    • Creighton TE 1984 Evolutionary and genetic origins of protein sequences. In: Creighton TE (ed) Proteins: Structure and Molecular Principles. Freeman, New York, NY, pp 93-126
    • (1984) Proteins: Structure and Molecular Principles , pp. 93-126
    • Creighton, T.E.1
  • 33
    • 0027017315 scopus 로고
    • Partial gene duplication as a cause of human disease
    • Hu X, Worton RG 1992 Partial gene duplication as a cause of human disease. Hum Mutat 1:3-12
    • (1992) Hum Mutat , vol.1 , pp. 3-12
    • Hu, X.1    Worton, R.G.2
  • 34
    • 0025302202 scopus 로고
    • Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia
    • Tiller GE, Rimoin DL, Murray LW, Cohn DH 1990 Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. Proc Natl Acad Sci USA 87:3889-3893
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 3889-3893
    • Tiller, G.E.1    Rimoin, D.L.2    Murray, L.W.3    Cohn, D.H.4
  • 35
    • 0031026976 scopus 로고    scopus 로고
    • Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome
    • Jeikkinen J, Toppinen T, Yeowell H, Krieg T, Steinmann B, Kivirikko KI, Myllyla R 1997 Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome. Am J Hum Genet 60:48-56
    • (1997) Am J Hum Genet , vol.60 , pp. 48-56
    • Jeikkinen, J.1    Toppinen, T.2    Yeowell, H.3    Krieg, T.4    Steinmann, B.5    Kivirikko, K.I.6    Myllyla, R.7
  • 36
    • 0029024292 scopus 로고
    • Structure of the human luteinizing hormone-choriogonadotropin receptor gene: Unusual promoter and 5′ non-coding regions
    • Atger M, Misrahi M, Sar S, Fle LL, Dessen P, Milgrom E 1995 Structure of the human luteinizing hormone-choriogonadotropin receptor gene: unusual promoter and 5′ non-coding regions. Mol Cell Endocrinol 111:113-123
    • (1995) Mol Cell Endocrinol , vol.111 , pp. 113-123
    • Atger, M.1    Misrahi, M.2    Sar, S.3    Fle, L.L.4    Dessen, P.5    Milgrom, E.6
  • 37
    • 0029787394 scopus 로고    scopus 로고
    • Recovery of unlabeled PCR product from polyacrylamide gel for sequencing
    • Wu SM, Blomberg LA, Chan WY 1996 Recovery of unlabeled PCR product from polyacrylamide gel for sequencing. Biotechniques 21:358-362
    • (1996) Biotechniques , vol.21 , pp. 358-362
    • Wu, S.M.1    Blomberg, L.A.2    Chan, W.Y.3
  • 38
    • 0023277545 scopus 로고
    • Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
    • Chomczynski P, Sacchi N 1986 Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
    • (1986) Anal Biochem , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 39
    • 0027219714 scopus 로고
    • Expression of pregnancy-specific β1-glycoproteins in hematopoietic cells
    • Wu SM, Bazar LS, Cohn ML, Cahill RA, Chan WY 1993 Expression of pregnancy-specific β1-glycoproteins in hematopoietic cells. Mol Cell Biochem 122:147-152
    • (1993) Mol Cell Biochem , vol.122 , pp. 147-152
    • Wu, S.M.1    Bazar, L.S.2    Cohn, M.L.3    Cahill, R.A.4    Chan, W.Y.5
  • 40
    • 0002947302 scopus 로고
    • Lipofectamine™ reagent: A new, higher efficiency polycationic liposome transfection reagent
    • Hawley-Nelson P, Ciccarone V, Gebeyehu G, Jessee J, Felgner PL 1993 Lipofectamine™ reagent: a new, higher efficiency polycationic liposome transfection reagent. Focus 15:73-79
    • (1993) Focus , vol.15 , pp. 73-79
    • Hawley-Nelson, P.1    Ciccarone, V.2    Gebeyehu, G.3    Jessee, J.4    Felgner, P.L.5
  • 41
    • 0020625309 scopus 로고
    • On the mechanisms involved in the regulation of the cell-surface receptors for human choriogonadotropin and mouse epidermal growth factor in cultured Leydig tumor cells
    • Lloyd CE, Ascoli M 1983 On the mechanisms involved in the regulation of the cell-surface receptors for human choriogonadotropin and mouse epidermal growth factor in cultured Leydig tumor cells. J Cell Biol 96:521-526
    • (1983) J Cell Biol , vol.96 , pp. 521-526
    • Lloyd, C.E.1    Ascoli, M.2
  • 42
    • 0021042341 scopus 로고
    • An improved method for the solubilization of stable gonadotropin receptors
    • Ascoli M 1983 An improved method for the solubilization of stable gonadotropin receptors. Endocrinology 113:2129-2134
    • (1983) Endocrinology , vol.113 , pp. 2129-2134
    • Ascoli, M.1


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