-
1
-
-
0027982794
-
Genetic basis of endocrine disease. VI. Molecular basis of familial human growth hormone deficiency
-
Phillips JA, Cogan JD 1994 Genetic basis of endocrine disease. VI. Molecular basis of familial human growth hormone deficiency. J Clin Endocrinol Metab 78:11-16
-
(1994)
J Clin Endocrinol Metab
, vol.78
, pp. 11-16
-
-
Phillips, J.A.1
Cogan, J.D.2
-
3
-
-
0026778865
-
Isolated growth hormone (GH) deficiency type IA associated with a 45-kilobase gene deletion within the human GH gene cluster
-
Akinci A, Kanaka C, Eble A, Akar N, Vidinlisan S, Mullis PE 1992 Isolated growth hormone (GH) deficiency type IA associated with a 45-kilobase gene deletion within the human GH gene cluster. J Clin Endocrinol Metab 75:437-441
-
(1992)
J Clin Endocrinol Metab
, vol.75
, pp. 437-441
-
-
Akinci, A.1
Kanaka, C.2
Eble, A.3
Akar, N.4
Vidinlisan, S.5
Mullis, P.E.6
-
4
-
-
0031682082
-
The molecular genetics of growth hormone deficiency
-
Procter AM, Phillips JA, Cooper DN 1998 The molecular genetics of growth hormone deficiency. Hum Genet 103:255-272
-
(1998)
Hum Genet
, vol.103
, pp. 255-272
-
-
Procter, A.M.1
Phillips, J.A.2
Cooper, D.N.3
-
5
-
-
0030829977
-
The dwarfs of Sindh: Severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene
-
Baumann G, Maheshwari H 1997 The dwarfs of Sindh: severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. Acta Paediatr 423(Suppl):33-38
-
(1997)
Acta Paediatr
, vol.423
, Issue.SUPPL.
, pp. 33-38
-
-
Baumann, G.1
Maheshwari, H.2
-
6
-
-
0028955078
-
Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis
-
Binder G, Ranke MB 1995 Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis. J Clin Endocrinol Metab 80:1247-1252
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 1247-1252
-
-
Binder, G.1
Ranke, M.B.2
-
7
-
-
0028037298
-
Familial growth hormone deficiency: A model of dominant and recessive mutations affecting a monomeric protein
-
Cogan JD, Phillips JA, Schenkman SS, Milner RD, Sakati N 1994 Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein. J Clin Endocrinol Metab 79:1261-1265
-
(1994)
J Clin Endocrinol Metab
, vol.79
, pp. 1261-1265
-
-
Cogan, J.D.1
Phillips, J.A.2
Schenkman, S.S.3
Milner, R.D.4
Sakati, N.5
-
8
-
-
0028217202
-
The crystal structure of affinity-matured human growth hormone at 2 A resolution
-
Ultsch MH, Somers W, Kossiakoff AA, de Vos AM 1994 The crystal structure of affinity-matured human growth hormone at 2 A resolution. J Mol Biol 236:286-299
-
(1994)
J Mol Biol
, vol.236
, pp. 286-299
-
-
Ultsch, M.H.1
Somers, W.2
Kossiakoff, A.A.3
De Vos, A.M.4
-
9
-
-
0025999498
-
Growth hormone heterogeneity: Genes, isohormones, variants, and binding proteins
-
Baumann G 1991 Growth hormone heterogeneity: genes, isohormones, variants, and binding proteins. Endocr Rev 12:424-449
-
(1991)
Endocr Rev
, vol.12
, pp. 424-449
-
-
Baumann, G.1
-
10
-
-
0029839542
-
Mechanisms responsible for dominant expression of human growth hormone gene mutations
-
Binder G, Brown M, Parks JS 1996 Mechanisms responsible for dominant expression of human growth hormone gene mutations. J Clin Endocrinol Metab 81:4047-4050
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 4047-4050
-
-
Binder, G.1
Brown, M.2
Parks, J.S.3
-
11
-
-
0033304919
-
Inhibition of growth hormone (GH) secretion by a mutant GH-1 gene product in neuroendocrine cells containing secretory granules: An implication for isolated GH deficiency inherited in an autosomal dominant manner
-
Hayashi Y, Yamamoto M, Ohmori S, Kamijo T, Ogawa M, Seo H 1999 Inhibition of growth hormone (GH) secretion by a mutant GH-1 gene product in neuroendocrine cells containing secretory granules: an implication for isolated GH deficiency inherited in an autosomal dominant manner. J Clin Endocrinol Metab 84:2134-2139
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 2134-2139
-
-
Hayashi, Y.1
Yamamoto, M.2
Ohmori, S.3
Kamijo, T.4
Ogawa, M.5
Seo, H.6
-
12
-
-
0034465474
-
Autosomal dominant growth hormone (GH) deficiency type II: The del32-71-GH deletion mutant suppresses secretion of wild-type GH
-
Lee MS, Wajnrajch MP, Kim SS, Plotnick IP, Wang J, Gertner JM, Leibel RL, Dannies PS 2000 Autosomal dominant growth hormone (GH) deficiency type II: the del32-71-GH deletion mutant suppresses secretion of wild-type GH. Endocrinology 141:883-890
-
(2000)
Endocrinology
, vol.141
, pp. 883-890
-
-
Lee, M.S.1
Wajnrajch, M.P.2
Kim, S.S.3
Plotnick, I.P.4
Wang, J.5
Gertner, J.M.6
Leibel, R.L.7
Dannies, P.S.8
-
13
-
-
0033631687
-
Protein folding and deficiencies caused by dominant-negative mutants of hormones
-
Dannies PS 2000 Protein folding and deficiencies caused by dominant-negative mutants of hormones. Vitam Horm 58:1-26
-
(2000)
Vitam Horm
, vol.58
, pp. 1-26
-
-
Dannies, P.S.1
-
14
-
-
0034764940
-
Misfolded growth hormone causes fragmentation of the Golgi apparatus and disrupts endoplasmic reticulum-to-Golgi traffic
-
Graves TK, Patel S, Dannies PS, Hinkle PM 2001 Misfolded growth hormone causes fragmentation of the Golgi apparatus and disrupts endoplasmic reticulum-to-Golgi traffic. J Cell Sci 114:3685-3694
-
(2001)
J Cell Sci
, vol.114
, pp. 3685-3694
-
-
Graves, T.K.1
Patel, S.2
Dannies, P.S.3
Hinkle, P.M.4
-
15
-
-
0037318508
-
Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice
-
McGuinness L, Magoulas C, Sesay AK, Mathers K, Carmignac D, Manneville JB, Christian H, Phillips III JA, Robinson IC 2003 Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice. Endocrinology 144:720-731
-
(2003)
Endocrinology
, vol.144
, pp. 720-731
-
-
McGuinness, L.1
Magoulas, C.2
Sesay, A.K.3
Mathers, K.4
Carmignac, D.5
Manneville, J.B.6
Christian, H.7
Phillips III, J.A.8
Robinson, I.C.9
-
16
-
-
0036930374
-
Isolated GH deficiency (IGHD) type II: Imaging of the pituitary gland by magnetic resonance reveals characteristic differences in comparison with severe IGHD of unknown origin
-
Binder G, Nagel BH, Ranke MB, Mullis PE 2002 Isolated GH deficiency (IGHD) type II: imaging of the pituitary gland by magnetic resonance reveals characteristic differences in comparison with severe IGHD of unknown origin. Eur J Endocrinol 147:755-760
-
(2002)
Eur J Endocrinol
, vol.147
, pp. 755-760
-
-
Binder, G.1
Nagel, B.H.2
Ranke, M.B.3
Mullis, P.E.4
-
17
-
-
0024520745
-
Site-directed mutagenesis by overlap extension using the polymerase chain reaction
-
Ho SN, Hunt HD, Horton RM, Pullen JK, Pease LR 1989 Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene 77:51-59
-
(1989)
Gene
, vol.77
, pp. 51-59
-
-
Ho, S.N.1
Hunt, H.D.2
Horton, R.M.3
Pullen, J.K.4
Pease, L.R.5
-
18
-
-
11144355302
-
Central reassessment of GH concentrations measured at local treatment centers in children with impaired growth: Consequences for patient management
-
Hauffa BP, Lehmann N, Bettendorf M, Mehls O, Dorr HG, Partsch CJ, Schwarz HP, Stahnke N, Steinkamp H, Said E, Sander S, Ranke MB 2004 Central reassessment of GH concentrations measured at local treatment centers in children with impaired growth: consequences for patient management. Eur J Endocrinol 150:291-297
-
(2004)
Eur J Endocrinol
, vol.150
, pp. 291-297
-
-
Hauffa, B.P.1
Lehmann, N.2
Bettendorf, M.3
Mehls, O.4
Dorr, H.G.5
Partsch, C.J.6
Schwarz, H.P.7
Stahnke, N.8
Steinkamp, H.9
Said, E.10
Sander, S.11
Ranke, M.B.12
-
19
-
-
0029831259
-
Insulin-like growth factor binding protein 2 is differentially expressed in leukaemic B- and T-cell lines
-
Elmlinger MW, Wimmer K, Biemer E, Blum WF, Ranke MB Dannecker GE 1996 Insulin-like growth factor binding protein 2 is differentially expressed in leukaemic B- and T-cell lines. Growth Regul 6:152-157
-
(1996)
Growth Regul
, vol.6
, pp. 152-157
-
-
Elmlinger, M.W.1
Wimmer, K.2
Biemer, E.3
Blum, W.F.4
Ranke, M.B.5
Dannecker, G.E.6
-
21
-
-
0036750868
-
Decreased protein expression and intermittent recoveries in BiP levels result from cellular stress during heterologous protein expression in Saccharomyces cerevisiae
-
Kauffman KJ, Pridgen EM, Doyle III FJ, Dhurjati PS, Robinson AS 2002 Decreased protein expression and intermittent recoveries in BiP levels result from cellular stress during heterologous protein expression in Saccharomyces cerevisiae. Biotechnol Prog 18:942-950
-
(2002)
Biotechnol Prog
, vol.18
, pp. 942-950
-
-
Kauffman, K.J.1
Pridgen, E.M.2
Doyle III, F.J.3
Dhurjati, P.S.4
Robinson, A.S.5
|