-
3
-
-
14244270348
-
Minireview: Transcriptional regulation of adrenocortical development
-
Hammer GD, Parker KL, Schimmer BP 2005 Minireview: transcriptional regulation of adrenocortical development. Endocrinology 146:1018-1024
-
(2005)
Endocrinology
, vol.146
, pp. 1018-1024
-
-
Hammer, G.D.1
Parker, K.L.2
Schimmer, B.P.3
-
4
-
-
27844572373
-
Genetic analysis of adrenal absence: Agenesis and aplasia
-
Else T, Hammer GD 2005 Genetic analysis of adrenal absence: agenesis and aplasia. Trends Endocrinol Metab 16:458-468
-
(2005)
Trends Endocrinol Metab
, vol.16
, pp. 458-468
-
-
Else, T.1
Hammer, G.D.2
-
6
-
-
0028598360
-
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
-
Muscatelli F, Strom TM, Walker AP, Zanaria E, Recan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W, Schwarz HP, Kaplan JC, Camerino G, Meitinger T, Monaco AP 1994 Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 372:672-676
-
(1994)
Nature
, vol.372
, pp. 672-676
-
-
Muscatelli, F.1
Strom, T.M.2
Walker, A.P.3
Zanaria, E.4
Recan, D.5
Meindl, A.6
Bardoni, B.7
Guioli, S.8
Zehetner, G.9
Rabl, W.10
Schwarz, H.P.11
Kaplan, J.C.12
Camerino, G.13
Meitinger, T.14
Monaco, A.P.15
-
7
-
-
33747644339
-
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: Ten years' experience
-
Lin L, Gu WX, Ozisik G, To WS, Owen CJ, Jameson JL, Achermann JC 2006 Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience. J Clin Endocrinol Metab 91:3048-3054
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 3048-3054
-
-
Lin, L.1
Gu, W.X.2
Ozisik, G.3
To, W.S.4
Owen, C.J.5
Jameson, J.L.6
Achermann, J.C.7
-
8
-
-
0033623571
-
Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency
-
Biason-Lauber A, Schoenle EJ 2000 Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. Am J Hum Genet 67:1563-1568
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1563-1568
-
-
Biason-Lauber, A.1
Schoenle, E.J.2
-
9
-
-
0033304828
-
IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
-
Vilain E, Le Merrer M, Lecointre C, Desangles F, Kay MA, Maroteaux P, McCabe ER 1999 IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab 84:4335-4340
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4335-4340
-
-
Vilain, E.1
Le Merrer, M.2
Lecointre, C.3
Desangles, F.4
Kay, M.A.5
Maroteaux, P.6
McCabe, E.R.7
-
10
-
-
0033960595
-
A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism
-
Tabarin A, Achermann JC, Recan D, Bex V, Bertagna X, Christin-Maitre S, Ito M, Jameson JL, Bouchard P 2000 A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. J Clin Invest 105:321-328
-
(2000)
J Clin Invest
, vol.105
, pp. 321-328
-
-
Tabarin, A.1
Achermann, J.C.2
Recan, D.3
Bex, V.4
Bertagna, X.5
Christin-Maitre, S.6
Ito, M.7
Jameson, J.L.8
Bouchard, P.9
-
11
-
-
49649085557
-
Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita
-
Shaikh MG, Boyes L, Kingston H, Collins R, Besley GT, Padmakumar B, Ismayl O, Hughes I, Hall CM, Hellerud C, Achermann JC, Clayton PE 2008 Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita. J Med Genet 45:e1
-
(2008)
J Med Genet
, vol.45
-
-
Shaikh, M.G.1
Boyes, L.2
Kingston, H.3
Collins, R.4
Besley, G.T.5
Padmakumar, B.6
Ismayl, O.7
Hughes, I.8
Hall, C.M.9
Hellerud, C.10
Achermann, J.C.11
Clayton, P.E.12
-
12
-
-
33845504474
-
Nonclassic congenital lipoid adrenal hyperplasia: A new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia
-
Baker BY, Lin L, Kim CJ, Raza J, Smith CP, Miller WL, Achermann JC 2006 Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. J Clin Endocrinol Metab 91:4781-4785
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 4781-4785
-
-
Baker, B.Y.1
Lin, L.2
Kim, C.J.3
Raza, J.4
Smith, C.P.5
Miller, W.L.6
Achermann, J.C.7
-
13
-
-
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 2007 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) 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
-
14
-
-
18344389337
-
Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator
-
Bamforth SD, Braganca J, Eloranta JJ, Murdoch JN, Marques FI, Kranc KR, Farza H, Henderson DJ, Hurst HC, Bhattacharya S 2001 Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator. Nat Genet 29:469-474
-
(2001)
Nat Genet
, vol.29
, pp. 469-474
-
-
Bamforth, S.D.1
Braganca, J.2
Eloranta, J.J.3
Murdoch, J.N.4
Marques, F.I.5
Kranc, K.R.6
Farza, H.7
Henderson, D.J.8
Hurst, H.C.9
Bhattacharya, S.10
-
15
-
-
0034798317
-
Requirement for Pbx1 in skeletal patterning and programming chondrocyte proliferation and differentiation
-
Selleri L, Depew MJ, Jacobs Y, Chanda SK, Tsang KY, Cheah KS, Rubenstein JL, O'Gorman S, Cleary ML 2001 Requirement for Pbx1 in skeletal patterning and programming chondrocyte proliferation and differentiation. Development 128:3543-3557
-
(2001)
Development
, vol.128
, pp. 3543-3557
-
-
Selleri, L.1
Depew, M.J.2
Jacobs, Y.3
Chanda, S.K.4
Tsang, K.Y.5
Cheah, K.S.6
Rubenstein, J.L.7
O'Gorman, S.8
Cleary, M.L.9
-
16
-
-
34347355518
-
Adrenal development is initiated by Cited2 and Wt1 through modulation of Sf-1 dosage
-
Val P, Martinez-Barbera JP, Swain A 2007 Adrenal development is initiated by Cited2 and Wt1 through modulation of Sf-1 dosage. Development 134:2349-2358
-
(2007)
Development
, vol.134
, pp. 2349-2358
-
-
Val, P.1
Martinez-Barbera, J.P.2
Swain, A.3
-
17
-
-
33846434880
-
Pre-B-cell transcription factor 1 and steroidogenic factor 1 synergistically regulate adrenocortical growth and steroidogenesis
-
Lichtenauer UD, Duchniewicz M, Kolanczyk M, Hoeflich A, Hahner S, Else T, Bicknell AB, Zemojtel T, Stallings NR, Schulte DM, Kamps MP, Hammer GD, Scheele JS, Beuschlein F 2007 Pre-B-cell transcription factor 1 and steroidogenic factor 1 synergistically regulate adrenocortical growth and steroidogenesis. Endocrinology 148:693-704
-
(2007)
Endocrinology
, vol.148
, pp. 693-704
-
-
Lichtenauer, U.D.1
Duchniewicz, M.2
Kolanczyk, M.3
Hoeflich, A.4
Hahner, S.5
Else, T.6
Bicknell, A.B.7
Zemojtel, T.8
Stallings, N.R.9
Schulte, D.M.10
Kamps, M.P.11
Hammer, G.D.12
Scheele, J.S.13
Beuschlein, F.14
-
19
-
-
0028971143
-
MatInd and MatInspector: New fast and versatile tools for detection of consensus matches in nucleotide sequence data
-
Quandt K, Frech K, Karas H, Wingender E, Werner T 1995 MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res 23:4878-4884
-
(1995)
Nucleic Acids Res
, vol.23
, pp. 4878-4884
-
-
Quandt, K.1
Frech, K.2
Karas, H.3
Wingender, E.4
Werner, T.5
-
20
-
-
0032990419
-
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
-
Achermann JC, Ito M, Ito M, Hindmarsh PC, Jameson JL 1999 A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 22:125-126
-
(1999)
Nat Genet
, vol.22
, pp. 125-126
-
-
Achermann, J.C.1
Ito, M.2
Ito, M.3
Hindmarsh, P.C.4
Jameson, J.L.5
-
21
-
-
0034644467
-
A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes
-
Ito M, Achermann JC, Jameson JL 2000 A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes. J Biol Chem 275:31708-31714
-
(2000)
J Biol Chem
, vol.275
, pp. 31708-31714
-
-
Ito, M.1
Achermann, J.C.2
Jameson, J.L.3
-
22
-
-
0034924861
-
Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression
-
Achermann JC, Ito M, Silverman BL, Habiby RL, Pang S, Rosler A, Jameson JL 2001 Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression. J Clin Endocrinol Metab 86:3171-3175
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 3171-3175
-
-
Achermann, J.C.1
Ito, M.2
Silverman, B.L.3
Habiby, R.L.4
Pang, S.5
Rosler, A.6
Jameson, J.L.7
-
23
-
-
33645511061
-
In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development
-
Goto M, Piper HK, Marcos J, Wood PJ, Wright S, Postle AD, Cameron IT, Mason JI, Wilson DI, Hanley NA 2006 In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development. J Clin Invest 116:953-960
-
(2006)
J Clin Invest
, vol.116
, pp. 953-960
-
-
Goto, M.1
Piper, H.K.2
Marcos, J.3
Wood, P.J.4
Wright, S.5
Postle, A.D.6
Cameron, I.T.7
Mason, J.I.8
Wilson, D.I.9
Hanley, N.A.10
-
24
-
-
0032844814
-
Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination
-
Hanley NA, Ball SG, Clement-Jones M, Hagan DM, Strachan T, Lindsay S, Robson S, Ostrer H, Parker KL, Wilson DI 1999 Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination. Mech Dev 87:175-180
-
(1999)
Mech Dev
, vol.87
, pp. 175-180
-
-
Hanley, N.A.1
Ball, S.G.2
Clement-Jones, M.3
Hagan, D.M.4
Strachan, T.5
Lindsay, S.6
Robson, S.7
Ostrer, H.8
Parker, K.L.9
Wilson, D.I.10
-
25
-
-
33646873986
-
Two-step regulation of Ad4BP/SF-1 gene transcription during fetal adrenal development: Initiation by a Hox-Pbx1-Prep1 complex and maintenance via autoregulation by Ad4BP/SF-1
-
Zubair M, Ishihara S, Oka S, Okumura K, Morohashi K 2006 Two-step regulation of Ad4BP/SF-1 gene transcription during fetal adrenal development: initiation by a Hox-Pbx1-Prep1 complex and maintenance via autoregulation by Ad4BP/SF-1. Mol Cell Biol 26:4111-4121
-
(2006)
Mol Cell Biol
, vol.26
, pp. 4111-4121
-
-
Zubair, M.1
Ishihara, S.2
Oka, S.3
Okumura, K.4
Morohashi, K.5
-
26
-
-
0031020234
-
DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita
-
Ito M, Yu R, Jameson JL 1997 DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita. Mol Cell Biol 17:1476-1483
-
(1997)
Mol Cell Biol
, vol.17
, pp. 1476-1483
-
-
Ito, M.1
Yu, R.2
Jameson, J.L.3
-
27
-
-
4944263717
-
Molecular mechanisms of DAX1 action
-
Iyer AK, McCabe ER 2004 Molecular mechanisms of DAX1 action. Mol Genet Metab 83:60-73
-
(2004)
Mol Genet Metab
, vol.83
, pp. 60-73
-
-
Iyer, A.K.1
McCabe, E.R.2
-
28
-
-
0036153174
-
Interaction between Dax-1 and steroidogenic factor-1 in vivo: Increased adrenal responsiveness to ACTH in the absence of Dax-1
-
Babu PS, Bavers DL, Beuschlein F, Shah S, Jeffs B, Jameson JL, Hammer GD 2002 Interaction between Dax-1 and steroidogenic factor-1 in vivo: increased adrenal responsiveness to ACTH in the absence of Dax-1. Endocrinology 143:665-673
-
(2002)
Endocrinology
, vol.143
, pp. 665-673
-
-
Babu, P.S.1
Bavers, D.L.2
Beuschlein, F.3
Shah, S.4
Jeffs, B.5
Jameson, J.L.6
Hammer, G.D.7
-
29
-
-
33947506472
-
An amino-terminal DAX1 (NROB1) missense mutation associated with isolated mineralocorticoid deficiency
-
Verrijn Stuart AA, Ozisik G, de Vroede MA, Giltay JC, Sinke RJ, Peterson TJ, Harris RM, Weiss J, Jameson JL 2007 An amino-terminal DAX1 (NROB1) missense mutation associated with isolated mineralocorticoid deficiency. J Clin Endocrinol Metab 92:755-761
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 755-761
-
-
Verrijn Stuart, A.A.1
Ozisik, G.2
de Vroede, M.A.3
Giltay, J.C.4
Sinke, R.J.5
Peterson, T.J.6
Harris, R.M.7
Weiss, J.8
Jameson, J.L.9
-
30
-
-
0031796372
-
Role of Ahch in gonadal development and gametogenesis
-
Yu RN, Ito M, Saunders TL, Camper SA, Jameson JL 1998 Role of Ahch in gonadal development and gametogenesis. Nat Genet 20:353-357
-
(1998)
Nat Genet
, vol.20
, pp. 353-357
-
-
Yu, R.N.1
Ito, M.2
Saunders, T.L.3
Camper, S.A.4
Jameson, J.L.5
-
31
-
-
0034801915
-
Blockage of the rete testis and efferent ductules by ectopic Sertoli and Leydig cells causes infertility in Dax1-deficient male mice
-
Jeffs B, Meeks JJ, Ito M, Martinson FA, Matzuk MM, Jameson JL, Russell LD 2001 Blockage of the rete testis and efferent ductules by ectopic Sertoli and Leydig cells causes infertility in Dax1-deficient male mice. Endocrinology 142:4486-4495
-
(2001)
Endocrinology
, vol.142
, pp. 4486-4495
-
-
Jeffs, B.1
Meeks, J.J.2
Ito, M.3
Martinson, F.A.4
Matzuk, M.M.5
Jameson, J.L.6
Russell, L.D.7
-
32
-
-
0029912474
-
Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function
-
Swain A, Zanaria E, Hacker A, Lovell-Badge R, Camerino G 1996 Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function. Nat Genet 12:404-409
-
(1996)
Nat Genet
, vol.12
, pp. 404-409
-
-
Swain, A.1
Zanaria, E.2
Hacker, A.3
Lovell-Badge, R.4
Camerino, G.5
-
33
-
-
0032546009
-
Dax1 antagonizes Sry action in mammalian sex determination
-
Swain A, Narvaez V, Burgoyne P, Camerino G, Lovell-Badge R 1998 Dax1 antagonizes Sry action in mammalian sex determination. Nature 391:761-767
-
(1998)
Nature
, vol.391
, pp. 761-767
-
-
Swain, A.1
Narvaez, V.2
Burgoyne, P.3
Camerino, G.4
Lovell-Badge, R.5
-
34
-
-
34547728253
-
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene
-
Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell A 2007 Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. J Clin Endocrinol Metab 92:3305-3313
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 3305-3313
-
-
Barbaro, M.1
Oscarson, M.2
Schoumans, J.3
Staaf, J.4
Ivarsson, S.A.5
Wedell, A.6
-
35
-
-
28844459874
-
Identification and functional analysis of CITED2 mutations in patients with congenital heart defects
-
Sperling S, Grimm CH, Dunkel I, Mebus S, Sperling HP, Ebner A, Galli R, Lehrach H, Fusch C, Berger F, Hammer S 2005 Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. Hum Mutat 26:575-582
-
(2005)
Hum Mutat
, vol.26
, pp. 575-582
-
-
Sperling, S.1
Grimm, C.H.2
Dunkel, I.3
Mebus, S.4
Sperling, H.P.5
Ebner, A.6
Galli, R.7
Lehrach, H.8
Fusch, C.9
Berger, F.10
Hammer, S.11
|