메뉴 건너뛰기




Volumn 94, Issue 7, 2009, Pages 2565-2570

Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB

Author keywords

[No Author keywords available]

Indexed keywords

ISOLEUCINE; MESSENGER RNA; METHACHOLINE; MUSCARINIC M1 RECEPTOR; MUSCARINIC M2 RECEPTOR; MUSCARINIC M3 RECEPTOR; MUSCARINIC M4 RECEPTOR; MUSCARINIC M5 RECEPTOR; VALINE;

EID: 67650248717     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-0512     Document Type: Article
Times cited : (7)

References (41)
  • 2
    • 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
  • 4
    • 13244273749 scopus 로고    scopus 로고
    • Genetic control of growth
    • Mullis PE 2005 Genetic control of growth. Eur J Endocrinol 152:11-31
    • (2005) Eur J Endocrinol , vol.152 , pp. 11-31
    • Mullis, P.E.1
  • 6
    • 0031890209 scopus 로고    scopus 로고
    • Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency
    • Wagner JK, Eblé A, Hindmarsh PC, Mullis PE 1998 Prevalence of human GH-1 gene 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    Eblé, A.2    Hindmarsh, P.C.3    Mullis, P.E.4
  • 8
    • 0030876260 scopus 로고    scopus 로고
    • Pyridostigmine treatment selectively amplifies the mass of GH secreted per burst without altering GH burst frequency, half-life, basal GH secretion or the orderliness of GH release
    • Friend K, Iranmanesh A, Login IS, Veldhuis JD 1997 Pyridostigmine treatment selectively amplifies the mass of GH secreted per burst without altering GH burst frequency, half-life, basal GH secretion or the orderliness of GH release. Eur J Endocrinol 137:377-386
    • (1997) Eur J Endocrinol , vol.137 , pp. 377-386
    • Friend, K.1    Iranmanesh, A.2    Login, I.S.3    Veldhuis, J.D.4
  • 10
    • 0022547886 scopus 로고
    • Potentiation of cholinergic tone by pyridostigmine bromide re-instates and potentiates the growth hormone responsiveness to intermittent administration of growth hormone-releasing factor in man
    • Massara F, Ghigo E, Molinatti P, Mazza E, Locatelli V, Muller EE, Camanni F 1986 Potentiation of cholinergic tone by pyridostigmine bromide re-instates and potentiates the growth hormone responsiveness to intermittent administration of growth hormone-releasing factor in man. Acta Endocrinol (Copenh) 113:12-16
    • (1986) Acta Endocrinol (Copenh) , vol.113 , pp. 12-16
    • Massara, F.1    Ghigo, E.2    Molinatti, P.3    Mazza, E.4    Locatelli, V.5    Muller, E.E.6    Camanni, F.7
  • 11
    • 0025159237 scopus 로고
    • Effect of enhancement of endogenous cholinergic tone with pyridostigmine on the dose-response relationships of growth hormone (GH)-releasing hormone-induced GH secretion in normal subjects
    • Peñalva A, Muruais C, Casanueva FF, Dieguez C 1990 Effect of enhancement of endogenous cholinergic tone with pyridostigmine on the dose-response relationships of growth hormone (GH)-releasing hormone-induced GH secretion in normal subjects. J Clin Endocrinol Metab 70:324-327
    • (1990) J Clin Endocrinol Metab , vol.70 , pp. 324-327
    • Peñalva, A.1    Muruais, C.2    Casanueva, F.F.3    Dieguez, C.4
  • 12
    • 0025802664 scopus 로고
    • The role of the cholinergic pathway in growth hormone feedback
    • Kelijman M, Frohman LA 1991 The role of the cholinergic pathway in growth hormone feedback. J Clin Endocrinol Metab 72:1081-1087
    • (1991) J Clin Endocrinol Metab , vol.72 , pp. 1081-1087
    • Kelijman, M.1    Frohman, L.A.2
  • 15
    • 0020407317 scopus 로고
    • Participation of cholinergic muscarinic receptors in glucagon- and arginine-mediated growth hormone secretion in man
    • Delitala G, Frulio T, Pacifico A, Maioli M 1982 Participation of cholinergic muscarinic receptors in glucagon- and arginine-mediated growth hormone secretion in man. J Clin Endocrinol Metab 55:1231-1233
    • (1982) J Clin Endocrinol Metab , vol.55 , pp. 1231-1233
    • Delitala, G.1    Frulio, T.2    Pacifico, A.3    Maioli, M.4
  • 18
    • 39049092781 scopus 로고    scopus 로고
    • Association of a nicotinic receptor mutation with reduced height and blunted physostigmine-stimulated growth hormone release
    • Fedi M, Bach LA, Berkovic SF, Willoughby JO, Scheffer IE, Reutens DC 2008 Association of a nicotinic receptor mutation with reduced height and blunted physostigmine-stimulated growth hormone release. J Clin Endocrinol Metab 93:634-637
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 634-637
    • Fedi, M.1    Bach, L.A.2    Berkovic, S.F.3    Willoughby, J.O.4    Scheffer, I.E.5    Reutens, D.C.6
  • 19
    • 34548362105 scopus 로고    scopus 로고
    • Muscarinic acetylcholine receptors: Mutant mice provide new insights for drug development
    • Wess J, Eglen RM, Gautam D 2007 Muscarinic acetylcholine receptors: mutant mice provide new insights for drug development. Nat Rev Drug Discov 6:721-733
    • (2007) Nat Rev Drug Discov , vol.6 , pp. 721-733
    • Wess, J.1    Eglen, R.M.2    Gautam, D.3
  • 21
    • 4344649944 scopus 로고    scopus 로고
    • A mouse with targeted ablation of the growth hormone-releasing hormone gene: A new model of isolated growth hormone deficiency
    • Alba M, Salvatori R 2004 A mouse with targeted ablation of the growth hormone-releasing hormone gene: a new model of isolated growth hormone deficiency. Endocrinology 145:4134-4143
    • (2004) Endocrinology , vol.145 , pp. 4134-4143
    • Alba, M.1    Salvatori, R.2
  • 22
    • 0027236844 scopus 로고
    • Molecular basis of the little mouse phenotype and implications for cell type-specific growth
    • Lin SC, Lin CR, Gukovsky I, Lusis AJ, Sawchenko PE, Rosenfeld MG 1993 Molecular basis of the little mouse phenotype and implications for cell type-specific growth. Nature 364:208-213
    • (1993) Nature , vol.364 , pp. 208-213
    • Lin, S.C.1    Lin, C.R.2    Gukovsky, I.3    Lusis, A.J.4    Sawchenko, P.E.5    Rosenfeld, M.G.6
  • 23
    • 4143067828 scopus 로고    scopus 로고
    • Familial growth hormone deficiency and mutations in the GHRH receptor gene
    • Alba M, Salvatori R 2004 Familial growth hormone deficiency and mutations in the GHRH receptor gene. Vitam Horm 69:209-220
    • (2004) Vitam Horm , vol.69 , pp. 209-220
    • Alba, M.1    Salvatori, R.2
  • 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 Acids Res 16:1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 27
    • 34548776932 scopus 로고    scopus 로고
    • Variation in the gene coding for the M5 muscarinic receptor (CHRM5) influences cigarette dose but is not associated with dependence to drugs of addiction: Evidence from a prospective population based cohort study of young adults
    • Anney RJ, Lotfi-Miri M, Olsson CA, Reid SC, Hemphill SA, Patton GC 2007 Variation in the gene coding for the M5 muscarinic receptor (CHRM5) influences cigarette dose but is not associated with dependence to drugs of addiction: Evidence from a prospective population based cohort study of young adults. BMC Genet 8:46
    • (2007) BMC Genet , vol.8 , pp. 46
    • Anney, R.J.1    Lotfi-Miri, M.2    Olsson, C.A.3    Reid, S.C.4    Hemphill, S.A.5    Patton, G.C.6
  • 28
    • 0032429154 scopus 로고    scopus 로고
    • A DNA polymorphism discovery resource for research on human genetic variation
    • Collins FS, Brooks LD, Chakravarti A 1998 A DNA polymorphism discovery resource for research on human genetic variation. Genome Res 8:1229-1231
    • (1998) Genome Res , vol.8 , pp. 1229-1231
    • Collins, F.S.1    Brooks, L.D.2    Chakravarti, A.3
  • 29
    • 0028904960 scopus 로고
    • Truncation of the carboxyl-terminal region of the rat parathyroid hormone (PTH)/PTH-related peptide receptor enhances PTH stimulation of adenylyl cyclase but not phospholipase C
    • Iida-Klein A, Guo J, Xie LY, Jüppner H, Potts Jr JT, Kronenberg HM, Bringhurst FR, Abou-Samra AB, Segre GV 1995 Truncation of the carboxyl-terminal region of the rat parathyroid hormone (PTH)/PTH-related peptide receptor enhances PTH stimulation of adenylyl cyclase but not phospholipase C. J Biol Chem 270:8458-8465
    • (1995) J Biol Chem , vol.270 , pp. 8458-8465
    • Iida-Klein, A.1    Guo, J.2    Xie, L.Y.3    Jüppner, H.4    Potts Jr, J.T.5    Kronenberg, H.M.6    Bringhurst, F.R.7    Abou-Samra, A.B.8    Segre, G.V.9
  • 30
    • 0032601570 scopus 로고    scopus 로고
    • Measurement of inositol (poly)phosphate formation using [3H]inositol labeling protocols in permeabilized cells
    • Swigart P, Cockcroft S 1999 Measurement of inositol (poly)phosphate formation using [3H]inositol labeling protocols in permeabilized cells. Methods Mol Biol 114:165-173
    • (1999) Methods Mol Biol , vol.114 , pp. 165-173
    • Swigart, P.1    Cockcroft, S.2
  • 31
    • 0032952176 scopus 로고    scopus 로고
    • Neuroendocrine control of growth hormone secretion
    • Müller EE, Locatelli V, Cocchi D 1999 Neuroendocrine control of growth hormone secretion. Physiol Rev 79:511-607
    • (1999) Physiol Rev , vol.79 , pp. 511-607
    • Müller, E.E.1    Locatelli, V.2    Cocchi, D.3
  • 32
    • 0023853921 scopus 로고
    • The CpG dinucleotide and human genetic disease
    • Cooper DN, Youssoufian H 1988 The CpG dinucleotide and human genetic disease. Hum Genet 78:151-155
    • (1988) Hum Genet , vol.78 , pp. 151-155
    • Cooper, D.N.1    Youssoufian, H.2
  • 33
    • 0023191072 scopus 로고
    • Identification of a family of muscarinic acetylcholine receptor genes
    • Bonner TI, Buckley NJ, Young AC, Brann MR 1987 Identification of a family of muscarinic acetylcholine receptor genes. Science 237:527-532
    • (1987) Science , vol.237 , pp. 527-532
    • Bonner, T.I.1    Buckley, N.J.2    Young, A.C.3    Brann, M.R.4
  • 34
    • 1942469381 scopus 로고    scopus 로고
    • Human-specific amino acid changes found in 103 protein-coding genes
    • Kitano T, Liu YH, Ueda S, Saitou N 2004 Human-specific amino acid changes found in 103 protein-coding genes. Mol Biol Evol 21:936-944
    • (2004) Mol Biol Evol , vol.21 , pp. 936-944
    • Kitano, T.1    Liu, Y.H.2    Ueda, S.3    Saitou, N.4
  • 35
    • 0027955950 scopus 로고
    • Cloning and expression of a cDNA encoding bovine muscarinic acetylcholine m3 receptor
    • Lee PH, Hodges PK, Glickman F, Chang KJ 1994 Cloning and expression of a cDNA encoding bovine muscarinic acetylcholine m3 receptor. Biochim Biophys Acta 1223:151-154
    • (1994) Biochim Biophys Acta , vol.1223 , pp. 151-154
    • Lee, P.H.1    Hodges, P.K.2    Glickman, F.3    Chang, K.J.4
  • 36
    • 0020526465 scopus 로고
    • Effect of agonists and antagonists of cholinergic neurotransmission on growth hormone release in the dog
    • Casanueva FF, Betti R, Cella SG, Muller EE, Mantegazza P 1983 Effect of agonists and antagonists of cholinergic neurotransmission on growth hormone release in the dog. Acta Endocrinol (Copenh) 103:15-20
    • (1983) Acta Endocrinol (Copenh) , vol.103 , pp. 15-20
    • Casanueva, F.F.1    Betti, R.2    Cella, S.G.3    Muller, E.E.4    Mantegazza, P.5
  • 39
    • 44549089064 scopus 로고    scopus 로고
    • Adaptive upregulation of gastric and hypothalamic ghrelin receptors and increased plasma ghrelin in a model of cancer chemotherapy-induced dyspepsia
    • Malik NM, Moore GB, Kaur R, Liu YL, Wood SL, Morrow RW, Sanger GJ, Andrews PL 2008 Adaptive upregulation of gastric and hypothalamic ghrelin receptors and increased plasma ghrelin in a model of cancer chemotherapy-induced dyspepsia. Regul Pept 148:33-38
    • (2008) Regul Pept , vol.148 , pp. 33-38
    • Malik, N.M.1    Moore, G.B.2    Kaur, R.3    Liu, Y.L.4    Wood, S.L.5    Morrow, R.W.6    Sanger, G.J.7    Andrews, P.L.8
  • 40
    • 14244252899 scopus 로고    scopus 로고
    • Partial reversibility of GH deficiency in the GHRH knockout mouse by postnatal treatment with a GHRH analog
    • Alba M, Schally AV, Salvatori R 2005 Partial reversibility of GH deficiency in the GHRH knockout mouse by postnatal treatment with a GHRH analog. Endocrinology 146:1506-1513
    • (2005) Endocrinology , vol.146 , pp. 1506-1513
    • Alba, M.1    Schally, A.V.2    Salvatori, R.3
  • 41
    • 0025911051 scopus 로고
    • Height of normal pituitary gland as a function of age evaluated by magnetic resonance imaging in children
    • Argyropoulou M, Perignon F, Brunelle F, Brauner R, Rappaport R 1991 Height of normal pituitary gland as a function of age evaluated by magnetic resonance imaging in children. Pediatr Radiol 21:247-249
    • (1991) Pediatr Radiol , vol.21 , pp. 247-249
    • Argyropoulou, M.1    Perignon, F.2    Brunelle, F.3    Brauner, R.4    Rappaport, R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.