메뉴 건너뛰기




Volumn 161, Issue 4, 2009, Pages 541-546

The d3/fl-GH receptor gene polymorphism does not influence quality of life and body composition in GH-deficient adults receiving GH replacement therapy

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GROWTH HORMONE RECEPTOR; RECOMBINANT GROWTH HORMONE; SOMATOMEDIN C; HUMAN GROWTH HORMONE; RECOMBINANT PROTEIN;

EID: 70349757676     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-09-0405     Document Type: Article
Times cited : (21)

References (22)
  • 1
    • 0038359743 scopus 로고    scopus 로고
    • Heterozygous nonsense mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron syndrome) and the issue of the origin and function of the GHRD3 isoform
    • DOI 10.1210/jc.2002-021667
    • Pantel J, Grulich-Henn J, Bettendorf M, Strasburger CJ, Heinrich U & Amselem S. Heterozygous nonsense mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron syndrome) and the issue of the origin and function of the GHRd3 isoform. Journal of Clinical Endocrinology and Metabolism 2003 88 1705-1710. (Pubitemid 36623392)
    • (2003) Journal of Clinical Endocrinology and Metabolism , vol.88 , Issue.4 , pp. 1705-1710
    • Pantel, J.1    Grulich-Henn, J.2    Bettendorf, M.3    Strasburger, C.J.4    Heinrich, U.5    Amselem, S.6
  • 2
    • 3042780191 scopus 로고    scopus 로고
    • A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone
    • DOI 10.1038/ng1379
    • Dos Santos C, Essioux L, Teinturier C, Tauber M, Goffin V & Bougneres P. A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone. Nature Genetics 2004 36 720-724. (Pubitemid 38886633)
    • (2004) Nature Genetics , vol.36 , Issue.7 , pp. 720-724
    • Dos Santos, C.1    Essioux, L.2    Teinturier, C.3    Tauber, M.4    Goffin, V.5    Bougneres, P.6
  • 3
    • 34548671845 scopus 로고    scopus 로고
    • Exon 3-deleted genotype of growth hormone receptor (GHRd3) positively influences IGF-1 increase at generation test in children with idiopathic short stature
    • Toyoshima MT, Castroneves LA, Costalonga EF, Mendonca BB, Arnhold IJ & Jorge AA. Exon 3-deleted genotype of growth hormone receptor (GHRd3) positively influences IGF-1 increase at generation test in children with idiopathic short stature. Clinical Endocrinology 2007 67 500-504.
    • (2007) Clinical Endocrinology , vol.67 , pp. 500-504
    • Toyoshima, M.T.1    Castroneves, L.A.2    Costalonga, E.F.3    Mendonca, B.B.4    Arnhold, I.J.5    Jorge, A.A.6
  • 4
    • 40849142096 scopus 로고    scopus 로고
    • The exon 3-deleted/full-length growth hormone receptor polymorphism did not influence growth response to growth hormone therapy over two years in prepubertal short children born at term with adequate weight and length for gestational age
    • Carrascosa A, Audi L, Fernandez-Cancio M, Esteban C, Andaluz P, Vilaro E, Clemente M, Yeste D, Albisu MA & Gussinye M. The exon 3-deleted/full-length growth hormone receptor polymorphism did not influence growth response to growth hormone therapy over two years in prepubertal short children born at term with adequate weight and length for gestational age. Journal of Clinical Endocrinology and Metabolism 2008 93 764-770.
    • (2008) Journal of Clinical Endocrinology and Metabolism , vol.93 , pp. 764-770
    • Carrascosa, A.1    Audi, L.2    Fernandez-Cancio, M.3    Esteban, C.4    Andaluz, P.5    Vilaro, E.6    Clemente, M.7    Yeste, D.8    Albisu, M.A.9    Gussinye, M.10
  • 5
    • 32544437508 scopus 로고    scopus 로고
    • The d3-growth hormone (GH) receptor polymorphism is associated with increased responsiveness to GH in turner syndrome and short small-for- Gestational-age children
    • DOI 10.1210/jc.2005-1581
    • Binder G, Baur F, Schweizer R & Ranke MB. The d3-growth hormone (GH) receptor polymorphism is associated with increased responsiveness to GH in Turner syndrome and short small-for- gestational-age children. Journal of Clinical Endocrinology and Metabolism 2006 91 659-664. (Pubitemid 43236940)
    • (2006) Journal of Clinical Endocrinology and Metabolism , vol.91 , Issue.2 , pp. 659-664
    • Binder, G.1    Baur, F.2    Schweizer, R.3    Ranke, M.B.4
  • 6
    • 33644828425 scopus 로고    scopus 로고
    • Growth hormone (GH) pharmacogenetics: Influence of GH receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe GH deficiency
    • Jorge AA, Marchisotti FG, Montenegro LR, Carvalho LR, Mendonca BB & Arnhold IJ. Growth hormone (GH) pharmacogenetics: influence of GH receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe GH deficiency. Journal of Clinical Endocrinology and Metabolism 2006 91 1076-1080.
    • (2006) Journal of Clinical Endocrinology and Metabolism , vol.91 , pp. 1076-1080
    • Jorge, A.A.1    Marchisotti, F.G.2    Montenegro, L.R.3    Carvalho, L.R.4    Mendonca, B.B.5    Arnhold, I.J.6
  • 7
    • 33644831885 scopus 로고    scopus 로고
    • Common polymorphisms of the growth hormone (GH) receptor do not correlate with the growth response to exogenous recombinant human GH in GH-deficient children
    • DOI 10.1210/jc.2005-1308
    • Pilotta A, Mella P, Filisetti M, Felappi B, Prandi E, Parrinello G, Notarangelo LD & Buzi F. Common polymorphisms of the growth hormone (GH) receptor do not correlate with the growth response to exogenous recombinant human GH in GH-deficient children. Journal of Clinical Endocrinology and Metabolism 2006 91 1178-1180. (Pubitemid 43357798)
    • (2006) Journal of Clinical Endocrinology and Metabolism , vol.91 , Issue.3 , pp. 1178-1180
    • Pilotta, A.1    Mella, P.2    Filisetti, M.3    Felappi, B.4    Prandi, E.5    Parrinello, G.6    Notarangelo, L.D.7    Buzi, F.8
  • 8
    • 33748748058 scopus 로고    scopus 로고
    • The d3/fl-growth hormone (GH) receptor polymorphism does not influence the effect of GH treatment (66 microg/kg per day) or the spontaneous growth in short non-GH-deficient small-for-gestational-age children: Results from a two-year controlled prospective study in 170 Spanish patients
    • DOI 10.1210/jc.2006-0685
    • Carrascosa A, Esteban C, Espadero R, Fernandez-Cancio M, Andaluz P, Clemente M, Audi L, Wollmann H, Fryklund L & Parodi L. The d3/fl-growth hormone (GH) receptor polymorphism does not influence the effect of GH treatment (66 microg/kg per day) or the spontaneous growth in short non-GH-deficient small-for-gestational- age children: results from a two-year controlled prospective study in 170 Spanish patients. Journal of Clinical Endocrinology and Metabolism 2006 91 3281-3286. (Pubitemid 44402092)
    • (2006) Journal of Clinical Endocrinology and Metabolism , vol.91 , Issue.9 , pp. 3281-3286
    • Carrascosa, A.1    Esteban, C.2    Espadero, R.3    Fernandez-Cancio, M.4    Andaluz, P.5    Clemente, M.6    Audi, L.7    Wollmann, H.8    Fryklund, L.9    Parodi, L.10
  • 10
    • 0035725291 scopus 로고    scopus 로고
    • An audit of 500 subcutaneous glucagon stimulation tests to assess growth hormone and ACTH secretion in patients with hypothalamic-pituitary disease
    • DOI 10.1046/j.1365-2265.2001.01169.x
    • Leong KS, Walker AB, Martin I, Wile D, Wilding J & MacFarlane IA. An audit of 500 subcutaneous glucagon stimulation tests to assess growth hormone and ACTH secretion in patients with hypothalamic-pituitary disease. Clinical Endocrinology 2001 54 463-468. (Pubitemid 34204182)
    • (2001) Clinical Endocrinology , vol.54 , Issue.4 , pp. 463-468
    • Leong, K.S.1    Walker, A.B.2    Martin, I.3    Wile, D.4    Wilding, J.5    MacFarlane, I.A.6
  • 12
    • 0032776092 scopus 로고    scopus 로고
    • The QoL-AGHDA: An instrument for the assessment of quality of life in adults with growth hormone deficiency
    • DOI 10.1023/A:1008987922774
    • McKenna SP, Doward LC, Alonso J, Kohlmann T, Niero M, Prieto L & Wiren L. The QoL-AGHDA: an instrument for the assessment of quality of life in adults with growth hormone deficiency. Quality of Life Research 1999 8 373-383. (Pubitemid 29369642)
    • (1999) Quality of Life Research , vol.8 , Issue.4 , pp. 373-383
    • McKenna, S.P.1    Doward, L.C.2    Alonso, J.3    Kohlmann, T.4    Niero, M.5    Prieto, L.6    Wiren, L.7
  • 13
    • 0029968587 scopus 로고    scopus 로고
    • The development, reliability and validity of a disease specific quality of life model for adults with growth hormone deficiency
    • Wallymahmed ME, Baker GA, Humphris G, Dewey M & MacFarlane IA. The development, reliability and validity of a disease specific quality of lifemodel for adults with growth hormone deficiency. Clinical Endocrinology 1996 44 403-411. (Pubitemid 26141685)
    • (1996) Clinical Endocrinology , vol.44 , Issue.4 , pp. 403-411
    • Wallymahmed, M.E.1    Baker, G.A.2    Humphris, G.3    Dewey, M.4    MacFarlane, I.A.5
  • 14
    • 0038095674 scopus 로고    scopus 로고
    • Assessment of quality of life in adults receiving long-term growth hormone replacement compared to control subjects
    • DOI 10.1046/j.1365-2265.2003.01799.x
    • Malik IA, Foy P, Wallymahmed M, Wilding JP & MacFarlane IA. Assessment of quality of life in adults receiving long-term growth hormone replacement compared to control subjects. Clinical Endocrinology 2003 59 75-81. (Pubitemid 36774111)
    • (2003) Clinical Endocrinology , vol.59 , Issue.1 , pp. 75-81
    • Malik, I.A.1    Foy, P.2    Wallymahmed, M.3    Wilding, J.P.H.4    MacFarlane, I.A.5
  • 15
    • 70450203215 scopus 로고    scopus 로고
    • Growth hormone deficiency (adults) - Human growth hormone
    • August National Institute for Clinical Excellence
    • Growth hormone deficiency (adults) - human growth hormone. In: Technical Appraisal 64. August 2003: National Institute for Clinical Excellence.
    • (2003) Technical Appraisal 64
  • 16
    • 0034705518 scopus 로고    scopus 로고
    • Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution
    • Pantel J, Machinis K, Sobrier ML, Duquesnoy P, Goossens M & Amselem S. Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution. Journal of Biological Chemistry 2000 275 18664-18669.
    • (2000) Journal of Biological Chemistry , vol.275 , pp. 18664-18669
    • Pantel, J.1    Machinis, K.2    Sobrier, M.L.3    Duquesnoy, P.4    Goossens, M.5    Amselem, S.6
  • 18
    • 0030869221 scopus 로고    scopus 로고
    • Quality of life, body composition and muscle strength in adult growth hormone deficiency: The influence of growth hormone replacement therapy for up to 3 years
    • Wallymahmed ME, Foy P, Shaw D, Hutcheon R, Edwards RH & MacFarlane IA. Quality of life, body composition and muscle strength in adult growth hormone deficiency: the influence of growth hormone replacement therapy for up to 3 years. Clinical Endocrinology 1997 47 439-446. (Pubitemid 27452063)
    • (1997) Clinical Endocrinology , vol.47 , Issue.4 , pp. 439-446
    • Wallymahmed, M.E.1    Foy, P.2    Shaw, D.3    Hutcheon, R.4    Edwards, R.H.T.5    MacFarlane, I.A.6
  • 19
    • 34247549151 scopus 로고    scopus 로고
    • Cardiovascular disease, hypertension, dyslipidaemia and obesity in patients with hypothalamic-pituitary disease
    • DOI 10.1136/pgmj.2006.052241
    • Deepak D, Furlong NJ, Wilding JP & MacFarlane IA. Cardiovascular disease, hypertension, dyslipidaemia and obesity in patients with hypothalamic-pituitary disease. Postgraduate Medical Journal 2007 83 277-280. (Pubitemid 46663016)
    • (2007) Postgraduate Medical Journal , vol.83 , Issue.978 , pp. 277-280
    • Deepak, D.1    Furlong, N.J.2    Wilding, J.P.H.3    MacFarlane, I.A.4
  • 20
    • 0342323651 scopus 로고    scopus 로고
    • Growth hormone replacement in adults with growth hormone deficiency: Assessment of current knowledge
    • DOI 10.1016/S1043-2760(00)00268-X, PII S104327600000268X
    • Carroll PV, Christ ER & Sonksen PH. Growth hormone replacement in adults with growth hormone deficiency: assessment of current knowledge. Trends in Endocrinology and Metabolism 2000 11 231-238. (Pubitemid 30603170)
    • (2000) Trends in Endocrinology and Metabolism , vol.11 , Issue.6 , pp. 231-238
    • Veldhuis, J.D.1
  • 21
    • 33845504692 scopus 로고    scopus 로고
    • Exon 3-deleted/full-length growth hormone receptor polymorphism genotype frequencies in Spanish short small-for-gestational-age (SGA) children and adolescents (n=247) and in an adult control population (n=289) show increased fl/fl in short SGA
    • Audi L, Esteban C, Carrascosa A, Espadero R, Perez-Arroyo A, Arjona R, Clemente M, Wollmann H, Fryklund L & Parodi LA. Exon 3-deleted/full-length growth hormone receptor polymorphism genotype frequencies in Spanish short small-for-gestational-age (SGA) children and adolescents (n=247) and in an adult control population (n=289) show increased fl/fl in short SGA. Journal of Clinical Endocrinology and Metabolism 2006 91 5038-5043.
    • (2006) Journal of Clinical Endocrinology and Metabolism , vol.91 , pp. 5038-5043
    • Audi, L.1    Esteban, C.2    Carrascosa, A.3    Espadero, R.4    Perez-Arroyo, A.5    Arjona, R.6    Clemente, M.7    Wollmann, H.8    Fryklund, L.9    Parodi, L.A.10
  • 22
    • 36349022676 scopus 로고    scopus 로고
    • Growth hormone (GH) receptor C.1319 G>T polymorphism, but not exon 3 retention or deletion is associated with better first-year growth response to GH therapy in patients with GH deficiency
    • DOI 10.1203/01.pdr.0000290803.86985.61
    • Wan L, Chen WC, Tsai Y, Kao YT, Hsieh YY, Lee CC, Tsai CH, Chen CP & Tsai FJ. Growth hormone (GH) receptor C.1319 G>T polymorphism, but not exon 3 retention or deletion is associated with better first-year growth response to GH therapy in patients with GH deficiency. Pediatric Research 2007 62 735-740. (Pubitemid 350158816)
    • (2007) Pediatric Research , vol.62 , Issue.6 , pp. 735-740
    • Wan, L.1    Chen, W.-C.2    Tsai, Y.3    Kao, Y.-T.4    Hsieh, Y.-Y.5    Lee, C.-C.6    Tsai, C.-H.7    Chen, C.-P.8    Tsai, F.J.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.