-
1
-
-
36949093653
-
Isolation and properties of alpha-corticotrophin from sheep pituitary glands
-
Li CH, Geschwind II, Levy AL, Harris JI, Dixon JS, Pon NG, Porath JO: Isolation and properties of alpha-corticotrophin from sheep pituitary glands. Nature 1954;173:251-253.
-
(1954)
Nature
, vol.173
, pp. 251-253
-
-
Li, C.H.1
Geschwind, I.I.2
Levy, A.L.3
Harris, J.I.4
Dixon, J.S.5
Pon, N.G.6
Porath, J.O.7
-
2
-
-
0001243414
-
Isolation of melanocyte-stimulating hormone from hog pituitary gland
-
Lee TH, Lerner AB: Isolation of melanocyte-stimulating hormone from hog pituitary gland. J Biol Chem 1956;221:943-959.
-
(1956)
J Biol Chem
, vol.221
, pp. 943-959
-
-
Lee, T.H.1
Lerner, A.B.2
-
3
-
-
0018346407
-
Nucleotide sequence of cloned cDNA for bovine corticotropin-beta-lipotropin precursor
-
Nakanishi S, Inoue A, Kita T, Nakamura M, Chang AC, Cohen SN, Numa S: Nucleotide sequence of cloned cDNA for bovine corticotropin-beta-lipotropin precursor. Nature 1979;278:423-427.
-
(1979)
Nature
, vol.278
, pp. 423-427
-
-
Nakanishi, S.1
Inoue, A.2
Kita, T.3
Nakamura, M.4
Chang, A.C.5
Cohen, S.N.6
Numa, S.7
-
4
-
-
0043026937
-
Proopiomelanocortin, a polypeptide precursor with multiple functions: From physiology to pathological conditions
-
Raffin-Sanson ML, de Keyzer Y, Bertagna X: Proopiomelanocortin, a polypeptide precursor with multiple functions: from physiology to pathological conditions. Eur J Endocrinol 2003;149:79-90.
-
(2003)
Eur J Endocrinol
, vol.149
, pp. 79-90
-
-
Raffin-Sanson, M.L.1
de Keyzer, Y.2
Bertagna, X.3
-
5
-
-
0026731363
-
Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA
-
Chhajlani V, Wikberg JE: Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA. FEBS Lett 1992;309:417-420.
-
(1992)
FEBS Lett
, vol.309
, pp. 417-420
-
-
Chhajlani, V.1
Wikberg, J.E.2
-
6
-
-
0026800892
-
The cloning of a family of genes that encode the melanocortin receptors
-
Mountjoy KG, Robbins LS, Mortrud MT, Cone RD: The cloning of a family of genes that encode the melanocortin receptors. Science 1992;257:1248-1251.
-
(1992)
Science
, vol.257
, pp. 1248-1251
-
-
Mountjoy, K.G.1
Robbins, L.S.2
Mortrud, M.T.3
Cone, R.D.4
-
7
-
-
1542347163
-
Targeting melanocortin receptors as a novel strategy to control inflammation
-
Catania A, Gatti S, Colombo G, Lipton JM: Targeting melanocortin receptors as a novel strategy to control inflammation. Pharmacol Rev 2004;56:1-29.
-
(2004)
Pharmacol Rev
, vol.56
, pp. 1-29
-
-
Catania, A.1
Gatti, S.2
Colombo, G.3
Lipton, J.M.4
-
8
-
-
33646814991
-
Targeting melanocortin receptors as potential novel therapeutics
-
Getting SJ: Targeting melanocortin receptors as potential novel therapeutics. Pharmacol Ther 2006;111:1-15.
-
(2006)
Pharmacol Ther
, vol.111
, pp. 1-15
-
-
Getting, S.J.1
-
9
-
-
0038575880
-
New insights into G-protein-coupled receptor signaling from the melanocortin receptor system
-
Rana BK: New insights into G-protein-coupled receptor signaling from the melanocortin receptor system. Mol Pharmacol 2003;64:1-4.
-
(2003)
Mol Pharmacol
, vol.64
, pp. 1-4
-
-
Rana, B.K.1
-
10
-
-
0033736084
-
New aspects on the melanocortins and their receptors
-
Wikberg JE, Muceniece R, Mandrika I, Prusis P, Lindblom J, Post C, Skottner A: New aspects on the melanocortins and their receptors. Pharmacol Res 2000;42:393-420.
-
(2000)
Pharmacol Res
, vol.42
, pp. 393-420
-
-
Wikberg, J.E.1
Muceniece, R.2
Mandrika, I.3
Prusis, P.4
Lindblom, J.5
Post, C.6
Skottner, A.7
-
11
-
-
0035081809
-
Melanocortin receptors: Their functions and regulation by physiological agonists and antagonists
-
Abdel-Malek ZA: Melanocortin receptors: their functions and regulation by physiological agonists and antagonists. Cell Mol Life Sci 2001;58:434-441.
-
(2001)
Cell Mol Life Sci
, vol.58
, pp. 434-441
-
-
Abdel-Malek, Z.A.1
-
12
-
-
84965084407
-
The activation of adrenal phosphorylase by the adrenocorticotropic hormone
-
Haynes RC Jr: The activation of adrenal phosphorylase by the adrenocorticotropic hormone. J Biol Chem 1958;233:1220-1222.
-
(1958)
J Biol Chem
, vol.233
, pp. 1220-1222
-
-
Haynes Jr, R.C.1
-
13
-
-
0014755297
-
ACTH receptors in the adrenal: Specific binding of ACTH-125I and its relation to adenyl cyclase
-
Lefkowitz RJ, Roth J, Pricer W, Pastan I: ACTH receptors in the adrenal: specific binding of ACTH-125I and its relation to adenyl cyclase. Proc Natl Acad Sci USA 1970;65:745-752.
-
(1970)
Proc Natl Acad Sci USA
, vol.65
, pp. 745-752
-
-
Lefkowitz, R.J.1
Roth, J.2
Pricer, W.3
Pastan, I.4
-
14
-
-
0029084519
-
Cloning, characterization and expression of a functional mouse ACTH receptor
-
Cammas FM, Kapas S, Barker S, Clark AJ: Cloning, characterization and expression of a functional mouse ACTH receptor. Biochem Biophys Res Commun 1995;212:912-918.
-
(1995)
Biochem Biophys Res Commun
, vol.212
, pp. 912-918
-
-
Cammas, F.M.1
Kapas, S.2
Barker, S.3
Clark, A.J.4
-
15
-
-
0029908001
-
Localization of ACTH receptor mRNA by in situ hybridization in mouse adrenal gland
-
Xia Y, Wikberg JE: Localization of ACTH receptor mRNA by in situ hybridization in mouse adrenal gland. Cell Tissue Res 1996;286:63-68.
-
(1996)
Cell Tissue Res
, vol.286
, pp. 63-68
-
-
Xia, Y.1
Wikberg, J.E.2
-
16
-
-
0023694652
-
Identification of a protein in adrenal particulates that binds adrenocorticotropin specifically and with high affinity
-
Hofmann K, Stehle CJ, Finn FM: Identification of a protein in adrenal particulates that binds adrenocorticotropin specifically and with high affinity. Endocrinology 1988;123:1355-1363.
-
(1988)
Endocrinology
, vol.123
, pp. 1355-1363
-
-
Hofmann, K.1
Stehle, C.J.2
Finn, F.M.3
-
17
-
-
0027500950
-
Functional characterization of the cloned human ACTH receptor: Impaired responsiveness of a mutant receptor in familial glucocorticoid deficiency
-
Weber A, Kapas S, Hinson J, Grant DB, Grossman A, Clark AJ: Functional characterization of the cloned human ACTH receptor: impaired responsiveness of a mutant receptor in familial glucocorticoid deficiency. Biochem Biophys Res Commun 1993;197:172-178.
-
(1993)
Biochem Biophys Res Commun
, vol.197
, pp. 172-178
-
-
Weber, A.1
Kapas, S.2
Hinson, J.3
Grant, D.B.4
Grossman, A.5
Clark, A.J.6
-
18
-
-
0029951589
-
Mutations of ACTH receptor gene and familial syndrome of glucocorticoid deficiency
-
in French
-
Naville D, Barjhoux L, Jaillard C, Faury D, Despert F, Esteva B, Durand P, Saez J, Begeot M: Mutations of ACTH receptor gene and familial syndrome of glucocorticoid deficiency (in French). Ann Endocrinol (Paris) 1996;57:101-106.
-
(1996)
Ann Endocrinol (Paris)
, vol.57
, pp. 101-106
-
-
Naville, D.1
Barjhoux, L.2
Jaillard, C.3
Faury, D.4
Despert, F.5
Esteva, B.6
Durand, P.7
Saez, J.8
Begeot, M.9
-
19
-
-
0030564894
-
Major pharmacological distinction of the ACTH receptor from other melanocortin receptors
-
Schioth HB, Chhajlani V, Muceniece R, Klusa V, Wikberg JE: Major pharmacological distinction of the ACTH receptor from other melanocortin receptors. Life Sci 1996;59:797-801.
-
(1996)
Life Sci
, vol.59
, pp. 797-801
-
-
Schioth, H.B.1
Chhajlani, V.2
Muceniece, R.3
Klusa, V.4
Wikberg, J.E.5
-
20
-
-
0033306879
-
Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: Poor correlation of phenotype and genotype
-
Elias LL, Huebner A, Pullinger GD, Mirtella A, Clark AJ: Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype. J Clin Endocrinol Metab 1999;84:2766-2770.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 2766-2770
-
-
Elias, L.L.1
Huebner, A.2
Pullinger, G.D.3
Mirtella, A.4
Clark, A.J.5
-
21
-
-
0031051101
-
Effects of recombinant agouti-signaling protein on melanocortin action
-
Yang YK, Ollmann MM, Wilson BD, Dickinson C, Yamada T, Barsh GS, Gantz I: Effects of recombinant agouti-signaling protein on melanocortin action. Mol Endocrinol 1997;11:274-280.
-
(1997)
Mol Endocrinol
, vol.11
, pp. 274-280
-
-
Yang, Y.K.1
Ollmann, M.M.2
Wilson, B.D.3
Dickinson, C.4
Yamada, T.5
Barsh, G.S.6
Gantz, I.7
-
22
-
-
0014571898
-
Effects of hypophysectomy and ACTH administration on the level of adrenal cholesterol side-chain desmolase
-
Kimura T: Effects of hypophysectomy and ACTH administration on the level of adrenal cholesterol side-chain desmolase. Endocrinology 1969;85:492-499.
-
(1969)
Endocrinology
, vol.85
, pp. 492-499
-
-
Kimura, T.1
-
23
-
-
0027945576
-
Biochemical diversity of cAMP-dependent transcription of steroid hydroxylase genes in the adrenal cortex
-
Waterman MR: Biochemical diversity of cAMP-dependent transcription of steroid hydroxylase genes in the adrenal cortex. J Biol Chem 1994;269:27783-27786.
-
(1994)
J Biol Chem
, vol.269
, pp. 27783-27786
-
-
Waterman, M.R.1
-
24
-
-
0031134990
-
Cytochromes P450 12: Diversity of ACTH (CAMP)-dependent transcription of bovine steroid hydroxylase genes
-
Waterman MR, Bischof LJ: Cytochromes P450 12: diversity of ACTH (CAMP)-dependent transcription of bovine steroid hydroxylase genes. FASEB J 1997;11:419-427.
-
(1997)
FASEB J
, vol.11
, pp. 419-427
-
-
Waterman, M.R.1
Bischof, L.J.2
-
25
-
-
0035434596
-
Insights into the transcriptional regulation of steroidogenic enzymes and StAR
-
Sewer MB, Waterman MR: Insights into the transcriptional regulation of steroidogenic enzymes and StAR. Rev Endocr Metab Disord 2001;2:269-274.
-
(2001)
Rev Endocr Metab Disord
, vol.2
, pp. 269-274
-
-
Sewer, M.B.1
Waterman, M.R.2
-
26
-
-
33847179481
-
Adrenal cholesterol utilization
-
Kraemer FB: Adrenal cholesterol utilization. Mol Cell Endocrinol 2007;265-266:42-45.
-
(2007)
Mol Cell Endocrinol
-
-
Kraemer, F.B.1
-
27
-
-
0017845477
-
Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production
-
Allgrove J, Clayden GS, Grant DB, Macaulay JC: Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet 1978;i:1284-1286.
-
(1978)
Lancet
, vol.1
, pp. 1284-1286
-
-
Allgrove, J.1
Clayden, G.S.2
Grant, D.B.3
Macaulay, J.C.4
-
28
-
-
0032238826
-
Adrenocorticotropin insensitivity syndromes
-
Clark AJ, Weber A: Adrenocorticotropin insensitivity syndromes. Endocr Rev 1998;19:828-843.
-
(1998)
Endocr Rev
, vol.19
, pp. 828-843
-
-
Clark, A.J.1
Weber, A.2
-
30
-
-
0028928870
-
Familial adrenocorticotropin unresponsiveness associated with alacrima and achalasia: Biochemical and molecular studies in two siblings with clinical heterogeneity
-
Heinrichs C, Tsigos C, Deschepper J, Drews R, Collu R, Dugardeyn C, Goyens P, Ghanem GE, Bosson D, Chrousos GP, et al: Familial adrenocorticotropin unresponsiveness associated with alacrima and achalasia: biochemical and molecular studies in two siblings with clinical heterogeneity. Eur J Pediatr 1995;154:191-196.
-
(1995)
Eur J Pediatr
, vol.154
, pp. 191-196
-
-
Heinrichs, C.1
Tsigos, C.2
Deschepper, J.3
Drews, R.4
Collu, R.5
Dugardeyn, C.6
Goyens, P.7
Ghanem, G.E.8
Bosson, D.9
Chrousos, G.P.10
-
31
-
-
0029029505
-
A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome
-
Tsigos C, Arai K, Latronico AC, DiGeorge AM, Rapaport R, Chrousos GP: A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome. J Clin Endocrinol Metab 1995;80:2186-2189.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 2186-2189
-
-
Tsigos, C.1
Arai, K.2
Latronico, A.C.3
DiGeorge, A.M.4
Rapaport, R.5
Chrousos, G.P.6
-
32
-
-
0029827345
-
Linkage of the gene for the triple a syndrome to chromosome 12q13 near the type II keratin gene cluster
-
Weber A, Wienker TF, Jung M, Easton D, Dean HJ, Heinrichs C, Reis A, Clark AJ: Linkage of the gene for the triple a syndrome to chromosome 12q13 near the type II keratin gene cluster. Hum Mol Genet 1996;5:2061-2066.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 2061-2066
-
-
Weber, A.1
Wienker, T.F.2
Jung, M.3
Easton, D.4
Dean, H.J.5
Heinrichs, C.6
Reis, A.7
Clark, A.J.8
-
33
-
-
0034519843
-
Triple A syndrome - clinical aspects and molecular genetics
-
Huebner A, Yoon SJ, Ozkinay F, Hilscher C, Lee H, Clark AJ, Handschug K: Triple A syndrome - clinical aspects and molecular genetics. Endocr Res 2000;26:751-759.
-
(2000)
Endocr Res
, vol.26
, pp. 751-759
-
-
Huebner, A.1
Yoon, S.J.2
Ozkinay, F.3
Hilscher, C.4
Lee, H.5
Clark, A.J.6
Handschug, K.7
-
34
-
-
0033763096
-
Mutant WD-repeat protein in triple-A syndrome
-
Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C, Begeot M, Naville D, Nicolino M, Chaussain JL, Weissenbach J, Munnich A, Lyonnet S: Mutant WD-repeat protein in triple-A syndrome. Nat Genet 2000;26:332-335.
-
(2000)
Nat Genet
, vol.26
, pp. 332-335
-
-
Tullio-Pelet, A.1
Salomon, R.2
Hadj-Rabia, S.3
Mugnier, C.4
de Laet, M.H.5
Chaouachi, B.6
Bakiri, F.7
Brottier, P.8
Cattolico, L.9
Penet, C.10
Begeot, M.11
Naville, D.12
Nicolino, M.13
Chaussain, J.L.14
Weissenbach, J.15
Munnich, A.16
Lyonnet, S.17
-
35
-
-
0035253397
-
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene
-
Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A: Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet 2001;10:283-290.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 283-290
-
-
Handschug, K.1
Sperling, S.2
Yoon, S.J.3
Hennig, S.4
Clark, A.J.5
Huebner, A.6
-
36
-
-
0029854139
-
Folding of proteins with WD-repeats: Comparison of six members of the WD-repeat superfamily to the G protein beta subunit
-
Garcia-Higuera I, Fenoglio J, Li Y, Lewis C, Panchenko MP, Reiner O, Smith TF, Neer EJ: Folding of proteins with WD-repeats: comparison of six members of the WD-repeat superfamily to the G protein beta subunit. Biochemistry 1996;35:13985-13994.
-
(1996)
Biochemistry
, vol.35
, pp. 13985-13994
-
-
Garcia-Higuera, I.1
Fenoglio, J.2
Li, Y.3
Lewis, C.4
Panchenko, M.P.5
Reiner, O.6
Smith, T.F.7
Neer, E.J.8
-
38
-
-
0037008997
-
Proteomic analysis of the mammalian nuclear pore complex
-
Cronshaw JM, Krutchinsky AN, Zhang W, Chait BT, Matunis MJ: Proteomic analysis of the mammalian nuclear pore complex. J Cell Biol 2002;158:915-927.
-
(2002)
J Cell Biol
, vol.158
, pp. 915-927
-
-
Cronshaw, J.M.1
Krutchinsky, A.N.2
Zhang, W.3
Chait, B.T.4
Matunis, M.J.5
-
39
-
-
0034126815
-
The nuclear pore complex: Mediator of translocation between nucleus and cytoplasm
-
Allen TD, Cronshaw JM, Bagley S, Kiseleva E, Goldberg MW: The nuclear pore complex: mediator of translocation between nucleus and cytoplasm. J Cell Sci 2000;113:1651-1659.
-
(2000)
J Cell Sci
, vol.113
, pp. 1651-1659
-
-
Allen, T.D.1
Cronshaw, J.M.2
Bagley, S.3
Kiseleva, E.4
Goldberg, M.W.5
-
40
-
-
0035834037
-
Nuclear envelope proteomics: Novel integral membrane proteins of the inner nuclear membrane
-
Dreger M, Bengtsson L, Schoneberg T, Otto H, Hucho F: Nuclear envelope proteomics: novel integral membrane proteins of the inner nuclear membrane. Proc Natl Acad Sci USA 2001;98:11943-11948.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 11943-11948
-
-
Dreger, M.1
Bengtsson, L.2
Schoneberg, T.3
Otto, H.4
Hucho, F.5
-
41
-
-
36348978046
-
The nuclear pore complex: Disease associations and functional correlations
-
Cronshaw JM, Matunis MJ: The nuclear pore complex: disease associations and functional correlations. Trends Endocrinol Metab 2004;15:34-39.
-
(2004)
Trends Endocrinol Metab
, vol.15
, pp. 34-39
-
-
Cronshaw, J.M.1
Matunis, M.J.2
-
42
-
-
0037947770
-
The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome
-
Cronshaw JM, Matunis MJ: The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome. Proc Natl Acad Sci USA 2003;100:5823-5827.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 5823-5827
-
-
Cronshaw, J.M.1
Matunis, M.J.2
-
43
-
-
11244262589
-
The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex
-
Huebner A, Kaindl AM, Knobeloch KP, Petzold H, Mann P, Koehler K: The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. Endocr Res 2004;30:891-899.
-
(2004)
Endocr Res
, vol.30
, pp. 891-899
-
-
Huebner, A.1
Kaindl, A.M.2
Knobeloch, K.P.3
Petzold, H.4
Mann, P.5
Koehler, K.6
-
44
-
-
33745368247
-
Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation
-
Krumbholz M, Koehler K, Huebner A: Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation. Biochem Cell Biol 2006;84:243-249.
-
(2006)
Biochem Cell Biol
, vol.84
, pp. 243-249
-
-
Krumbholz, M.1
Koehler, K.2
Huebner, A.3
-
45
-
-
33644555819
-
Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome
-
Huebner A, Mann P, Rohde E, Kaindl AM, Witt M, Verkade P, Jakubiczka S, Menschikowski M, Stoltenburg-Didinger G, Koehler K: Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome. Mol Cell Biol 2006;26:1879-1887.
-
(2006)
Mol Cell Biol
, vol.26
, pp. 1879-1887
-
-
Huebner, A.1
Mann, P.2
Rohde, E.3
Kaindl, A.M.4
Witt, M.5
Verkade, P.6
Jakubiczka, S.7
Menschikowski, M.8
Stoltenburg-Didinger, G.9
Koehler, K.10
-
46
-
-
33144483974
-
ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome
-
Hirano M, Furiya Y, Asai H, Yasui A, Ueno S: ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome. Proc Natl Acad Sci USA 2006;103:2298-2303.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 2298-2303
-
-
Hirano, M.1
Furiya, Y.2
Asai, H.3
Yasui, A.4
Ueno, S.5
-
47
-
-
0027324668
-
Neurological and adrenal dysfunction in the adrenal insufficiency/ alacrima/achalasia (3A) syndrome
-
Grant DB, Barnes ND, Dumic M, Ginalska-Malinowska M, Milla PJ, von Petrykowski W, Rowlatt RJ, Steendijk R, Wales JHK, Werder E: Neurological and adrenal dysfunction in the adrenal insufficiency/ alacrima/achalasia (3A) syndrome. Arch Dis Childhood 1993;68:779-782.
-
(1993)
Arch Dis Childhood
, vol.68
, pp. 779-782
-
-
Grant, D.B.1
Barnes, N.D.2
Dumic, M.3
Ginalska-Malinowska, M.4
Milla, P.J.5
von Petrykowski, W.6
Rowlatt, R.J.7
Steendijk, R.8
Wales, J.H.K.9
Werder, E.10
-
48
-
-
0000074410
-
Familial Addison's disease; case reports of two sisters with corticoid deficiency unassociated with hypoaldosteronism
-
Shepard TH, Landing BH, Mason DG: Familial Addison's disease; case reports of two sisters with corticoid deficiency unassociated with hypoaldosteronism. AMA J Dis Child 1959;97:154-162.
-
(1959)
AMA J Dis Child
, vol.97
, pp. 154-162
-
-
Shepard, T.H.1
Landing, B.H.2
Mason, D.G.3
-
49
-
-
0015412476
-
Hereditary adrenocortical unresponsiveness to adrenocorticotropic hormone
-
Kelch RP, Kaplan SL, Biglieri EG, Daniels GH, Epstein CJ, Grumbach MM: Hereditary adrenocortical unresponsiveness to adrenocorticotropic hormone. J Pediatr 1972;81:726-736.
-
(1972)
J Pediatr
, vol.81
, pp. 726-736
-
-
Kelch, R.P.1
Kaplan, S.L.2
Biglieri, E.G.3
Daniels, G.H.4
Epstein, C.J.5
Grumbach, M.M.6
-
50
-
-
0014353812
-
The syndrome of congenital adrenocortical unresponsiveness to ACTH. Report of six cases
-
Migeon CJ, Kenny EM, Kowarski A, Snipes CA, Spaulding JS, Finkelstein JW, Blizzard RM: The syndrome of congenital adrenocortical unresponsiveness to ACTH. Report of six cases. Pediatr Res 1968;2:501-513.
-
(1968)
Pediatr Res
, vol.2
, pp. 501-513
-
-
Migeon, C.J.1
Kenny, E.M.2
Kowarski, A.3
Snipes, C.A.4
Spaulding, J.S.5
Finkelstein, J.W.6
Blizzard, R.M.7
-
51
-
-
0015624132
-
Familial glucocorticoid insufficiency
-
Moshang T Jr, Rosenfield RL, Bongiovanni AM, Parks JS, Amrhein JA: Familial glucocorticoid insufficiency. J Pediatr 1973;82:821-826.
-
(1973)
J Pediatr
, vol.82
, pp. 821-826
-
-
Moshang Jr, T.1
Rosenfield, R.L.2
Bongiovanni, A.M.3
Parks, J.S.4
Amrhein, J.A.5
-
52
-
-
0014705873
-
Hereditary adrenocortical unresponsiveness to ACTH
-
Franks RC, Nance WE: Hereditary adrenocortical unresponsiveness to ACTH. Pediatrics 1970;45:43-48.
-
(1970)
Pediatrics
, vol.45
, pp. 43-48
-
-
Franks, R.C.1
Nance, W.E.2
-
54
-
-
33846219478
-
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia
-
Lin L, Hindmarsh PC, Metherell LA, Alzyoud M, Al Ali M, Brain CE, Clark AJ, Dattani MT, Achermann JC: Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. Clin Endocrinol (Oxf) 2007;66:205-210.
-
(2007)
Clin Endocrinol (Oxf)
, vol.66
, pp. 205-210
-
-
Lin, L.1
Hindmarsh, P.C.2
Metherell, L.A.3
Alzyoud, M.4
Al Ali, M.5
Brain, C.E.6
Clark, A.J.7
Dattani, M.T.8
Achermann, J.C.9
-
55
-
-
0029908001
-
Localization of ACTH receptor MRNA by in situ hybridization in mouse adrenal gland
-
Xia Y, Wikberg JE: Localization of ACTH receptor MRNA by in situ hybridization in mouse adrenal gland. Cell Tissue Res 1996;286:63-68.
-
(1996)
Cell Tissue Res
, vol.286
, pp. 63-68
-
-
Xia, Y.1
Wikberg, J.E.2
-
56
-
-
0033678507
-
Stimulatory effect of adrenocorticotropin on cortisol, aldosterone, and dehydroepiandrosterone secretion in normal humans: Dose-response study
-
Arvat E, Di Vito L, Lanfranco F, Maccario M, Baffoni C, Rossetto R, Aimaretti G, Camanni F, Ghigo E: Stimulatory effect of adrenocorticotropin on cortisol, aldosterone, and dehydroepiandrosterone secretion in normal humans: dose-response study. J Clin Endocrinol Metab 2000;85:3141-3146.
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 3141-3146
-
-
Arvat, E.1
Di Vito, L.2
Lanfranco, F.3
Maccario, M.4
Baffoni, C.5
Rossetto, R.6
Aimaretti, G.7
Camanni, F.8
Ghigo, E.9
-
57
-
-
36749073453
-
Melanocortin 2 receptor is required for adrenal gland development, steroidogenesis, and neonatal gluconeogenesis
-
Chida D, Nakagawa S, Nagai S, Sagara H, Katsumata H, Imaki T, Suzuki H, Mitani F, Ogishima T, Shimizu C, Kotaki H, Kakuta S, Sudo K, Koike T, Kubo M, Iwakura Y: Melanocortin 2 receptor is required for adrenal gland development, steroidogenesis, and neonatal gluconeogenesis. Proc Natl Acad Sci USA 2007;104:18205-18210.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 18205-18210
-
-
Chida, D.1
Nakagawa, S.2
Nagai, S.3
Sagara, H.4
Katsumata, H.5
Imaki, T.6
Suzuki, H.7
Mitani, F.8
Ogishima, T.9
Shimizu, C.10
Kotaki, H.11
Kakuta, S.12
Sudo, K.13
Koike, T.14
Kubo, M.15
Iwakura, Y.16
-
58
-
-
0027396787
-
Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor
-
Clark AJ, McLoughlin L, Grossman A: Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet 1993;341:461-462.
-
(1993)
Lancet
, vol.341
, pp. 461-462
-
-
Clark, A.J.1
McLoughlin, L.2
Grossman, A.3
-
59
-
-
0028815022
-
Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: Relationships with clinical features in four families
-
Weber A, Toppari J, Harvey RD, Klann RC, Shaw NJ, Ricker AT, Nanto-Salonen K, Bevan JS, Clark AJ: Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families. J Clin Endocrinol Metab 1995;80:65-71.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 65-71
-
-
Weber, A.1
Toppari, J.2
Harvey, R.D.3
Klann, R.C.4
Shaw, N.J.5
Ricker, A.T.6
Nanto-Salonen, K.7
Bevan, J.S.8
Clark, A.J.9
-
60
-
-
0030459441
-
Characterization of the human ACTH receptor gene and in vitro expression
-
Naville D, Penhoat A, Barjhoux L, Jaillard C, Fontanay S, Saez J, Durand P, Begeot M: Characterization of the human ACTH receptor gene and in vitro expression. Endocr Res 1996;22:337-348.
-
(1996)
Endocr Res
, vol.22
, pp. 337-348
-
-
Naville, D.1
Penhoat, A.2
Barjhoux, L.3
Jaillard, C.4
Fontanay, S.5
Saez, J.6
Durand, P.7
Begeot, M.8
-
61
-
-
0027423948
-
Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene
-
Tsigos C, Arai K, Hung W, Chrousos GP: Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. J Clin Invest 1993;92:2458-2461.
-
(1993)
J Clin Invest
, vol.92
, pp. 2458-2461
-
-
Tsigos, C.1
Arai, K.2
Hung, W.3
Chrousos, G.P.4
-
62
-
-
0031950634
-
ACTH receptor mutation in a girl with familial glucocorticoid deficiency
-
Slavotinek AM, Hurst JA, Dunger D, Wilkie AO: ACTH receptor mutation in a girl with familial glucocorticoid deficiency. Clin Genet 1998;53:57-62.
-
(1998)
Clin Genet
, vol.53
, pp. 57-62
-
-
Slavotinek, A.M.1
Hurst, J.A.2
Dunger, D.3
Wilkie, A.O.4
-
63
-
-
0036739963
-
Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay
-
Fluck CE, Martens JW, Conte FA, Miller WL: Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. J Clin Endocrinol Metab 2002;87:4318-4323.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4318-4323
-
-
Fluck, C.E.1
Martens, J.W.2
Conte, F.A.3
Miller, W.L.4
-
64
-
-
0028349072
-
Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency
-
Weber A, Clark AJ: Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency. Hum Mol Genet 1994;3:585-588.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 585-588
-
-
Weber, A.1
Clark, A.J.2
-
65
-
-
0031741684
-
Exclusion of the adrenocorticotropin (ACTH) receptor (MC2R) locus in some families with ACTH resistance but no mutations of the MC2R coding sequence (familial glucocorticoid deficiency type 2)
-
Naville D, Weber A, Genin E, Durand P, Clark AJ, Begeot M: Exclusion of the adrenocorticotropin (ACTH) receptor (MC2R) locus in some families with ACTH resistance but no mutations of the MC2R coding sequence (familial glucocorticoid deficiency type 2). J Clin Endocrinol Metab 1998;83:3592-3596.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 3592-3596
-
-
Naville, D.1
Weber, A.2
Genin, E.3
Durand, P.4
Clark, A.J.5
Begeot, M.6
-
66
-
-
0033794585
-
Tall stature in familial glucocorticoid deficiency
-
Elias LL, Huebner A, Metherell LA, Canas A, Warne GL, Bitti ML, Cianfarani S, Clayton PE, Savage MO, Clark AJ: Tall stature in familial glucocorticoid deficiency. Clin Endocrinol (Oxf) 2000;53:423-430.
-
(2000)
Clin Endocrinol (Oxf)
, vol.53
, pp. 423-430
-
-
Elias, L.L.1
Huebner, A.2
Metherell, L.A.3
Canas, A.4
Warne, G.L.5
Bitti, M.L.6
Cianfarani, S.7
Clayton, P.E.8
Savage, M.O.9
Clark, A.J.10
-
67
-
-
0032524392
-
Melanocortin-4 receptor MRNA expression in the developing autonomic and central nervous systems
-
Mountjoy KG, Wild JM: Melanocortin-4 receptor MRNA expression in the developing autonomic and central nervous systems. Brain Res Dev Brain Res 1998;107:309-314.
-
(1998)
Brain Res Dev Brain Res
, vol.107
, pp. 309-314
-
-
Mountjoy, K.G.1
Wild, J.M.2
-
68
-
-
13944272719
-
Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency
-
Imamine H, Mizuno H, Sugiyama Y, Ohro Y, Sugiura T, Togari H: Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency. Tohoku J Exp Med 2005;205:123-131.
-
(2005)
Tohoku J Exp Med
, vol.205
, pp. 123-131
-
-
Imamine, H.1
Mizuno, H.2
Sugiyama, Y.3
Ohro, Y.4
Sugiura, T.5
Togari, H.6
-
69
-
-
20944434906
-
Multiple melanocortin receptors are expressed in bone cells
-
Zhong Q, Sridhar S, Ruan L, Ding KH, Xie D, Insogna K, Kang B, Xu J, Bollag RJ, Isales CM: Multiple melanocortin receptors are expressed in bone cells. Bone 2005;36:820-831.
-
(2005)
Bone
, vol.36
, pp. 820-831
-
-
Zhong, Q.1
Sridhar, S.2
Ruan, L.3
Ding, K.H.4
Xie, D.5
Insogna, K.6
Kang, B.7
Xu, J.8
Bollag, R.J.9
Isales, C.M.10
-
70
-
-
13944270307
-
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2
-
Metherell LA, Chapple JP, Cooray S, David A, Becker C, Ruschendorf F, Naville D, Begeot M, Khoo B, Nurnberg P, Huebner A, Cheetham ME, Clark AJ: Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet 2005;37:166-170.
-
(2005)
Nat Genet
, vol.37
, pp. 166-170
-
-
Metherell, L.A.1
Chapple, J.P.2
Cooray, S.3
David, A.4
Becker, C.5
Ruschendorf, F.6
Naville, D.7
Begeot, M.8
Khoo, B.9
Nurnberg, P.10
Huebner, A.11
Cheetham, M.E.12
Clark, A.J.13
-
71
-
-
0036076186
-
Identification of novel putative membrane proteins selectively expressed during adipose conversion of 3T3-L1 cells
-
Xu A, Choi KL, Wang Y, Permana PA, Xu LY, Bogardus C, Cooper GJ: Identification of novel putative membrane proteins selectively expressed during adipose conversion of 3T3-L1 cells. Biochem Biophys Res Commun 2002;293:1161-1167.
-
(2002)
Biochem Biophys Res Commun
, vol.293
, pp. 1161-1167
-
-
Xu, A.1
Choi, K.L.2
Wang, Y.3
Permana, P.A.4
Xu, L.Y.5
Bogardus, C.6
Cooper, G.J.7
-
72
-
-
0030010181
-
Characterization of melanocortin receptor subtype expression in murine adipose tissues and in the 3T3-L1 cell line
-
Boston BA, Cone RD: Characterization of melanocortin receptor subtype expression in murine adipose tissues and in the 3T3-L1 cell line. Endocrinology 1996;137:2043-2050.
-
(1996)
Endocrinology
, vol.137
, pp. 2043-2050
-
-
Boston, B.A.1
Cone, R.D.2
-
73
-
-
2542450927
-
A peroxisome proliferator-response element in the murine mc2-r promoter regulates its transcriptional activation during differentiation of 3T3-L1 adipocytes
-
Noon LA, Clark AJ, King PJ: A peroxisome proliferator-response element in the murine mc2-r promoter regulates its transcriptional activation during differentiation of 3T3-L1 adipocytes. J Biol Chem 2004;279:22803-22808.
-
(2004)
J Biol Chem
, vol.279
, pp. 22803-22808
-
-
Noon, L.A.1
Clark, A.J.2
King, P.J.3
-
74
-
-
38049184626
-
Melanocortin-2 receptor accessory protein MRAP forms antiparallel homodimers
-
Sebag JA, Hinkle PM: Melanocortin-2 receptor accessory protein MRAP forms antiparallel homodimers. Proc Natl Acad Sci USA 2007;104:20244-20249.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 20244-20249
-
-
Sebag, J.A.1
Hinkle, P.M.2
-
75
-
-
41549127614
-
The melanocortin 2 receptor accessory protein exists as a homodimer and is essential for the function of the melanocortin 2 receptor in the mouse Y1 cell line
-
Cooray SN, Almiro Do Vale I, Leung K, Webb TR, Chapple JP, Egertova MR, Cheetham ME, Elphick M, Clark AJ: The melanocortin 2 receptor accessory protein exists as a homodimer and is essential for the function of the melanocortin 2 receptor in the mouse Y1 cell line. Endocrinology 2008;149:1935-1941.
-
(2008)
Endocrinology
, vol.149
, pp. 1935-1941
-
-
Cooray, S.N.1
Almiro, D.2
Vale, I.3
Leung, K.4
Webb, T.R.5
Chapple, J.P.6
Egertova, M.R.7
Cheetham, M.E.8
Elphick, M.9
Clark, A.J.10
|