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Volumn 84, Issue 3, 1999, Pages 917-923

Familial dwarfism due to a novel mutation of the growth hormone- releasing hormone receptor gene

Author keywords

[No Author keywords available]

Indexed keywords

FOLLITROPIN; GROWTH HORMONE; HORMONE RECEPTOR; HYDROCORTISONE; LUTEINIZING HORMONE; MESSENGER RNA; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C; THYROTROPIN; THYROXINE;

EID: 0033059058     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.84.3.917     Document Type: Article
Times cited : (225)

References (48)
  • 1
    • 0015980941 scopus 로고
    • Causes of short stature: A community study of children in Newcastle Upon Tyne
    • Lacey KA, Parkin JM. 1974 Causes of short stature: a community study of children in Newcastle Upon Tyne. Lancet.1: 42-45.
    • (1974) Lancet , vol.1 , pp. 42-45
    • Lacey, K.A.1    Parkin, J.M.2
  • 2
    • 0017575723 scopus 로고
    • Aetiology of idiopathic growth hormone deficiency in England and Wales
    • Rona RJ, Tanner JM. 1977 Aetiology of idiopathic growth hormone deficiency in England and Wales. Arch Dis Chid. 52:197-208.
    • (1977) Arch Dis Chid , vol.52 , pp. 197-208
    • Rona, R.J.1    Tanner, J.M.2
  • 4
    • 0028319104 scopus 로고
    • Utah growth study: Growth standards and the prevalence of growth hormone deficiency
    • Lindsay R, Feldkamp M, Harris D, Robertson J, Rallison M. 1994 Utah Growth Study: Growth standards and the prevalence of growth hormone deficiency. J Pediatr. 125:29-35.
    • (1994) J Pediatr , vol.125 , pp. 29-35
    • Lindsay, R.1    Feldkamp, M.2    Harris, D.3    Robertson, J.4    Rallison, M.5
  • 5
    • 0025149577 scopus 로고
    • Endocrine function and morphological findings in patients with disorders of the hypothalamo-pituitary area: A study with magnetic resonance
    • Cacciari E, Zucchini S, Carla G, et al. 1990 Endocrine function and morphological findings in patients with disorders of the hypothalamo-pituitary area: a study with magnetic resonance. Arch Dis Child. 65:1199-1202.
    • (1990) Arch Dis Child , vol.65 , pp. 1199-1202
    • Cacciari, E.1    Zucchini, S.2    Carla, G.3
  • 6
    • 0002303314 scopus 로고    scopus 로고
    • Genetic disorders of the pituitary gland
    • Rimoin DL, Connor JM, Pyeritz RE, eds. New York: Churchill Livingstone
    • Rimoin DL, Phillips III JA. 1997 Genetic disorders of the pituitary gland. In: Rimoin DL, Connor JM, Pyeritz RE, eds. Principle and Practice of Medical Genetics, 3rd ed. New York: Churchill Livingstone; 1331-1364.
    • (1997) Principle and Practice of Medical Genetics, 3rd Ed. , pp. 1331-1364
    • Rimoin, D.L.1    Phillips J.A. III2
  • 7
    • 0031890209 scopus 로고    scopus 로고
    • Prevalence of human GH-1 alterations in patients with isolated growth hormone deficiency
    • Wagner JK, Eble A, Hindmarsh PC, Mullis PE. 1998 Prevalence of human GH-1 alterations in patients with isolated growth hormone deficiency. Pediatr Res. 43:105-110.
    • (1998) Pediatr Res , vol.43 , pp. 105-110
    • Wagner, J.K.1    Eble, A.2    Hindmarsh, P.C.3    Mullis, P.E.4
  • 9
    • 0019936875 scopus 로고
    • Growth hormone-releasing factor from human pancreatic tumor that causes acromegaly
    • Guillemin R, Brazeau P, Bohlen P, Esch F, Ling N, Wehrenberg WB. 1982 Growth hormone-releasing factor from human pancreatic tumor that causes acromegaly. Science. 218:585-587.
    • (1982) Science , vol.218 , pp. 585-587
    • Guillemin, R.1    Brazeau, P.2    Bohlen, P.3    Esch, F.4    Ling, N.5    Wehrenberg, W.B.6
  • 10
    • 0025396781 scopus 로고
    • Pituitary somatomammotroph adenomas develop in old mice transgenic for growth hormone-releasing hormone
    • Asa SL, Kovacs K, Stefaneu L, et al. 1990 Pituitary somatomammotroph adenomas develop in old mice transgenic for growth hormone-releasing hormone. Proc Soc Exp Biol Med. 193:232-235.
    • (1990) Proc Soc Exp Biol Med , vol.193 , pp. 232-235
    • Asa, S.L.1    Kovacs, K.2    Stefaneu, L.3
  • 11
    • 0023522307 scopus 로고
    • Altered Gs and adenylate cyclase activity in human GH-secreting pituitary adenomas
    • Vallar L, Spada A, Giannatasio G. 1987 Altered Gs and adenylate cyclase activity in human GH-secreting pituitary adenomas. Nature. 330:566-568.
    • (1987) Nature , vol.330 , pp. 566-568
    • Vallar, L.1    Spada, A.2    Giannatasio, G.3
  • 12
    • 0026062347 scopus 로고
    • Pituitary hyperplasia and gigantism in mice caused by a cholera toxin transgene
    • Burton FH, Hasel KW, Bloom FE, Sutcliffe JG. 1991 Pituitary hyperplasia and gigantism in mice caused by a cholera toxin transgene. Nature. 350:74-77.
    • (1991) Nature , vol.350 , pp. 74-77
    • Burton, F.H.1    Hasel, K.W.2    Bloom, F.E.3    Sutcliffe, J.G.4
  • 13
    • 0025853062 scopus 로고
    • Somatotroph hypoplasia and dwarfism in in transgenic mice expressing a non-phosphorylable CREB mutant
    • Struthers RS, Vale WW, Arias C, Sawchenco PE, Montminy MR. 1991 Somatotroph hypoplasia and dwarfism in in transgenic mice expressing a non-phosphorylable CREB mutant. Nature. 350:622-624.
    • (1991) Nature , vol.350 , pp. 622-624
    • Struthers, R.S.1    Vale, W.W.2    Arias, C.3    Sawchenco, P.E.4    Montminy, M.R.5
  • 14
    • 0028205357 scopus 로고
    • Exclusion of growth hormone-releasing hormone gene mutations in familial isolated growth hormone deficiency by linkage and single strand conformation analysis
    • Perez Jurado LA, Phillips III JA, Francke U. 1994 Exclusion of growth hormone-releasing hormone gene mutations in familial isolated growth hormone deficiency by linkage and single strand conformation analysis. J Clin Endocrinol Metabol. 78:622-628.
    • (1994) J Clin Endocrinol Metabol , vol.78 , pp. 622-628
    • Perez Jurado, L.A.1    Phillips J.A. III2    Francke, U.3
  • 15
    • 0022466170 scopus 로고
    • Receptor-associated resistance to growth hormone-releasing factor in dwarf "little" mice
    • Jansson J-O, Downs TR, Beamer WG, Frohman LA. 1986 Receptor-associated resistance to growth hormone-releasing factor in dwarf "little" mice. Science. 232:511-512.
    • (1986) Science , vol.232 , pp. 511-512
    • Jansson, J.-O.1    Downs, T.R.2    Beamer, W.G.3    Frohman, L.A.4
  • 16
    • 0027265595 scopus 로고
    • GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function
    • Godfrey P, Rahal JO, Beamer WG, Copeland NG, Jenkins NA, Mayo KE. 1993 GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function. Nat Genet. 4:227-232.
    • (1993) Nat Genet , vol.4 , pp. 227-232
    • Godfrey, P.1    Rahal, J.O.2    Beamer, W.G.3    Copeland, N.G.4    Jenkins, N.A.5    Mayo, K.E.6
  • 17
    • 0027236844 scopus 로고
    • Molecular basis of the little mouse phenotype and implications for cell-type specific growth
    • Lin S-C, Lin CR, Gukovsky I, Lusis AJ, Sawchenco PE, Rosenfeld MG. 1993 Molecular basis of the little mouse phenotype and implications for cell-type specific growth. Nature. 364:209-214.
    • (1993) Nature , vol.364 , pp. 209-214
    • Lin, S.-C.1    Lin, C.R.2    Gukovsky, I.3    Lusis, A.J.4    Sawchenco, P.E.5    Rosenfeld, M.G.6
  • 18
    • 0030033150 scopus 로고    scopus 로고
    • Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse
    • Wajnrajch MP, Gertner JM, Harbison MD, Chua Jr SC, Leibel RL. 1996 Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nat Genet. 12:88-90.
    • (1996) Nat Genet , vol.12 , pp. 88-90
    • Wajnrajch, M.P.1    Gertner, J.M.2    Harbison, M.D.3    Chua S.C., Jr.4    Leibel, R.L.5
  • 19
    • 0030829977 scopus 로고    scopus 로고
    • Severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene
    • Baumannn G, Maheshwari H. 1997 Severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. Acta Paediatr Suppl. 423:33-38.
    • (1997) Acta Paediatr Suppl , vol.423 , pp. 33-38
    • Baumannn, G.1    Maheshwari, H.2
  • 20
    • 0031732852 scopus 로고    scopus 로고
    • Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene
    • Netchine I, Talon P, Dastot F, Vitaux F, Goossens M, Amselem S. 1998 Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. J Clin Endocrinol Metab. 83:432-436.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 432-436
    • Netchine, I.1    Talon, P.2    Dastot, F.3    Vitaux, F.4    Goossens, M.5    Amselem, S.6
  • 21
    • 0027499362 scopus 로고
    • Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone
    • Gaylinn BD, Harrison JK, Zysk JR, Lyons CE, Lynch KR, Thorner MO. 1993 Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone. Mol Endocrinol. 7:77-84.
    • (1993) Mol Endocrinol , vol.7 , pp. 77-84
    • Gaylinn, B.D.1    Harrison, J.K.2    Zysk, J.R.3    Lyons, C.E.4    Lynch, K.R.5    Thorner, M.O.6
  • 24
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. 1988 A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res. 16:1215.
    • (1988) Nucleic Acid Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 25
    • 0005923246 scopus 로고    scopus 로고
    • Genomic organization and structure of the human growth hormone releasing hormone receptor gene
    • Minneapolis, MN
    • Maheshwari HG, Baumann G. 1997 Genomic organization and structure of the human growth hormone releasing hormone receptor gene. Proc 79th Annual Meeting of The Endocrine Society, Minneapolis, MN 1997 p.156.
    • (1997) Proc 79th Annual Meeting of The Endocrine Society , vol.156
    • Maheshwari, H.G.1    Baumann, G.2
  • 26
    • 0032230229 scopus 로고    scopus 로고
    • Structure and regulation of the human growth hormone-releasing hormone receptor gene
    • Petersenn S, Rasch AC, Heyens M, Schulte HM. 1998 Structure and regulation of the human growth hormone-releasing hormone receptor gene. Mol Endocrinol. 12:233-247.
    • (1998) Mol Endocrinol , vol.12 , pp. 233-247
    • Petersenn, S.1    Rasch, A.C.2    Heyens, M.3    Schulte, H.M.4
  • 27
    • 0000023099 scopus 로고
    • Attachment of a 40 base pair G+C reach sequence (G-C clamp) to genomic DNA fragment by the polymerase chain reaction results in improved detection of single base changes
    • Sheffield VC, Cox DR, Lerman LS, Myers RM. 1989 Attachment of a 40 base pair G+C reach sequence (G-C clamp) to genomic DNA fragment by the polymerase chain reaction results in improved detection of single base changes. Proc Natl Acad Sci USA. 86:232-236.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 232-236
    • Sheffield, V.C.1    Cox, D.R.2    Lerman, L.S.3    Myers, R.M.4
  • 28
    • 0026552008 scopus 로고
    • Analysis of the preproPTH gene by denaturing gradient gel electrophoresis in familial isolated hypoparathyroidism
    • Miric A, Levine MA. 1992 Analysis of the preproPTH gene by denaturing gradient gel electrophoresis in familial isolated hypoparathyroidism. J Clin Endocrinol Metab. 74:509-516.
    • (1992) J Clin Endocrinol Metab , vol.74 , pp. 509-516
    • Miric, A.1    Levine, M.A.2
  • 29
    • 0003000230 scopus 로고
    • Construction and analysis of panel of "whole genome" radiation hybrids
    • Cox DR, O'Connor K, Hebert S, et al. 1994 Construction and analysis of panel of "whole genome" radiation hybrids. Am J Hum Genet. 55:A23.
    • (1994) Am J Hum Genet , vol.55
    • Cox, D.R.1    O'Connor, K.2    Hebert, S.3
  • 30
    • 0026321407 scopus 로고
    • Statistical methods for multipoint radiation hybrid mapping
    • Boehnke M, Lange K, Cox DR. 1991 Statistical methods for multipoint radiation hybrid mapping. Am J Hum Genet. 49:1174-88.
    • (1991) Am J Hum Genet , vol.49 , pp. 1174-1188
    • Boehnke, M.1    Lange, K.2    Cox, D.R.3
  • 31
    • 0025014024 scopus 로고
    • Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1
    • Li S, Crenshaw III EB, Rawson EJ, Simmonds DM, Swanson LV, Rosenfeld MG. 1990 Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1. Nature. 347:528-533.
    • (1990) Nature , vol.347 , pp. 528-533
    • Li, S.1    Crenshaw E.B. III2    Rawson, E.J.3    Simmonds, D.M.4    Swanson, L.V.5    Rosenfeld, M.G.6
  • 32
    • 10544256602 scopus 로고    scopus 로고
    • Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defectìve in Ames dwarfism
    • Sornson MW, Wu W, Dasen JS. 1996 Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defectìve in Ames dwarfism. Nature. 384:327-333.
    • (1996) Nature , vol.384 , pp. 327-333
    • Sornson, M.W.1    Wu, W.2    Dasen, J.S.3
  • 33
    • 0025016794 scopus 로고
    • Molecular mechanism of growth hormone (GH) deficiency in the spontaneous dwarf rat: Detection of abnormal splicing of GH messenger ribonucleic acid by polymerase chain reaction
    • Takeuchi T, Suzuki H, Sakurai S, Nogami H, Okuma S, Ishikawa H. 1990 Molecular mechanism of growth hormone (GH) deficiency in the spontaneous dwarf rat: detection of abnormal splicing of GH messenger ribonucleic acid by polymerase chain reaction. Endocrinology. 126:31-38.
    • (1990) Endocrinology , vol.126 , pp. 31-38
    • Takeuchi, T.1    Suzuki, H.2    Sakurai, S.3    Nogami, H.4    Okuma, S.5    Ishikawa, H.6
  • 34
    • 17344371881 scopus 로고    scopus 로고
    • Mutations in PROP1 cause familial combined pituitary hormone deficiency
    • Wu W, Cogan JD, Pfaffle RW, et al. 1998 Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genet. 18:147-149.
    • (1998) Nat Genet , vol.18 , pp. 147-149
    • Wu, W.1    Cogan, J.D.2    Pfaffle, R.W.3
  • 35
    • 0028825415 scopus 로고
    • Isolated growth hormone deficiency: Testing the little mouse hypothesis in man and exclusion of mutations within the extracellular domain of the growth hormone-releasing hormone receptor
    • Cao Y, Wagner JK, Hindmarsh PC, Eble A, Mullis PE. 1995 Isolated growth hormone deficiency: testing the little mouse hypothesis in man and exclusion of mutations within the extracellular domain of the growth hormone-releasing hormone receptor. Pediatr Res. 38:962-966.
    • (1995) Pediatr Res , vol.38 , pp. 962-966
    • Cao, Y.1    Wagner, J.K.2    Hindmarsh, P.C.3    Eble, A.4    Mullis, P.E.5
  • 36
    • 0028212966 scopus 로고
    • Mechanism for selecting 5′ splice sites in mammalian pre-mRNA splicing
    • Horowitz DS, Krainer AR. 1994 Mechanism for selecting 5′ splice sites in mammalian pre-mRNA splicing. Trends Genet. 10:100-105.
    • (1994) Trends Genet , vol.10 , pp. 100-105
    • Horowitz, D.S.1    Krainer, A.R.2
  • 37
    • 0027131268 scopus 로고
    • Molecular analysis of the mutation in five unrelated patients with Lesch Nyhan syndrome
    • Marcus S, Christiensen E, Malm G. 1993 Molecular analysis of the mutation in five unrelated patients with Lesch Nyhan syndrome. Hum Mutat. 2:473-477.
    • (1993) Hum Mutat , vol.2 , pp. 473-477
    • Marcus, S.1    Christiensen, E.2    Malm, G.3
  • 39
    • 0028880534 scopus 로고
    • Scanning of the Wiscott-Aldrich syndrome (WAS) gene: Identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype
    • Kwan S-P, Hagemann TL, Blaese RM, Knutsen A, Rosen FS. 1995 Scanning of the Wiscott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype. Hum Mol Genet. 4:1995-1998.
    • (1995) Hum Mol Genet , vol.4 , pp. 1995-1998
    • Kwan, S.-P.1    Hagemann, T.L.2    Blaese, R.M.3    Knutsen, A.4    Rosen, F.S.5
  • 40
    • 0029091007 scopus 로고
    • Molecular basis of phenotypic variation in patients with argininemia
    • Uchino T, Snyderman SE, Lambert M et al. 1995 Molecular basis of phenotypic variation in patients with argininemia. Hum Genet. 96:255-260.
    • (1995) Hum Genet , vol.96 , pp. 255-260
    • Uchino, T.1    Snyderman, S.E.2    Lambert, M.3
  • 41
    • 0027943189 scopus 로고
    • Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene
    • Tassabehji M, Newton VE, Read AP. 1994 Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet. 8:251-255.
    • (1994) Nat Genet , vol.8 , pp. 251-255
    • Tassabehji, M.1    Newton, V.E.2    Read, A.P.3
  • 42
    • 0030967208 scopus 로고    scopus 로고
    • Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: Mutation detection methods and utilization
    • Puck JM, Middleton L, Pepper AE. 1997 Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: Mutation detection methods and utilization. Hum Genet. 99:628-633.
    • (1997) Hum Genet , vol.99 , pp. 628-633
    • Puck, J.M.1    Middleton, L.2    Pepper, A.E.3
  • 43
    • 0030001412 scopus 로고    scopus 로고
    • Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome
    • Fuchs S, van de Pol D, Beudt U, et al. 1996 Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome. Hum Mutat. 8:85-88.
    • (1996) Hum Mutat , vol.8 , pp. 85-88
    • Fuchs, S.1    Van de Pol, D.2    Beudt, U.3
  • 45
    • 0024415779 scopus 로고
    • The mRNA transcripts from a mutant β-globin gene derived from splicing at preferential cryptic sites
    • Lossi A-M, Berge-Lefranc J-L. 1989 The mRNA transcripts from a mutant β-globin gene derived from splicing at preferential cryptic sites. FEBS Lett. 256:163-166.
    • (1989) FEBS Lett , vol.256 , pp. 163-166
    • Lossi, A.-M.1    Berge-Lefranc, J.-L.2
  • 46
    • 0032580520 scopus 로고    scopus 로고
    • Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy
    • Niimura H, Bachinski LL, Sangwatanaroj S, et al. 1998 Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med. 338:1248-1257.
    • (1998) N Engl J Med , vol.338 , pp. 1248-1257
    • Niimura, H.1    Bachinski, L.L.2    Sangwatanaroj, S.3
  • 47
    • 0023853921 scopus 로고
    • The CpG dinucleotide and human genetic disease
    • Cooper DN, Youssoufian H. 1988 The CpG dinucleotide and human genetic disease. Hum Genet. 78:151-5.
    • (1988) Hum Genet , vol.78 , pp. 151-155
    • Cooper, D.N.1    Youssoufian, H.2
  • 48
    • 0028890851 scopus 로고
    • Achondroplasia is defined by recurrent G380R mutations of FGFR3
    • Bellus GA, Hefferon TW, Ortiz de Luna RI, et al. 1995 Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet. 56:368-373.
    • (1995) Am J Hum Genet , vol.56 , pp. 368-373
    • Bellus, G.A.1    Hefferon, T.W.2    Ortiz de Luna, R.I.3


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