-
1
-
-
33845599605
-
WNT4 deficiency-a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report
-
Biason-Lauber A., De Filippo G., Konrad D., Scarano G., Nazzaro A., Schoenle E.J. WNT4 deficiency-a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report. Hum. Reprod. 2007, 22:224-229.
-
(2007)
Hum. Reprod.
, vol.22
, pp. 224-229
-
-
Biason-Lauber, A.1
De Filippo, G.2
Konrad, D.3
Scarano, G.4
Nazzaro, A.5
Schoenle, E.J.6
-
2
-
-
33645314905
-
Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation
-
Bodega B., et al. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum. Reprod. 2006, 21:952-957.
-
(2006)
Hum. Reprod.
, vol.21
, pp. 952-957
-
-
Bodega, B.1
-
3
-
-
79957568900
-
Mutation analysis of the WNT4 gene in Han Chinese women with premature ovarian failure
-
Chen B., et al. Mutation analysis of the WNT4 gene in Han Chinese women with premature ovarian failure. Reprod. Biol. Endocrinol. 2011, 9:75.
-
(2011)
Reprod. Biol. Endocrinol.
, vol.9
, pp. 75
-
-
Chen, B.1
-
5
-
-
0028267053
-
Steroidogenic factor-1 binding and transcriptional activity of the cholesterol side-chain cleavage enzyme promoter in rat granulosa cells
-
Clemens J.W., Lala D.S., Parker K.L., Richards J.S. Steroidogenic factor-1 binding and transcriptional activity of the cholesterol side-chain cleavage enzyme promoter in rat granulosa cells. Endocrinology 1994, 134:1499-1508.
-
(1994)
Endocrinology
, vol.134
, pp. 1499-1508
-
-
Clemens, J.W.1
Lala, D.S.2
Parker, K.L.3
Richards, J.S.4
-
6
-
-
0034508805
-
Premature ovarian failure
-
Conway G.S. Premature ovarian failure. Br. Med. Bull. 2000, 56:643-649.
-
(2000)
Br. Med. Bull.
, vol.56
, pp. 643-649
-
-
Conway, G.S.1
-
8
-
-
0035131812
-
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
-
Crisponi L., Deiana M., Loi A., Chiappe F., Uda M., Amati P. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat. Genet. 2001, 27:159-166.
-
(2001)
Nat. Genet.
, vol.27
, pp. 159-166
-
-
Crisponi, L.1
Deiana, M.2
Loi, A.3
Chiappe, F.4
Uda, M.5
Amati, P.6
-
9
-
-
0032160676
-
Stat 5b and the orphan nuclear receptors regulate expression of the alpha2-macroglobulin (alpha2M) gene in rat ovarian granulosa cells
-
Dajee M., Fey G.H., Richards J.S. Stat 5b and the orphan nuclear receptors regulate expression of the alpha2-macroglobulin (alpha2M) gene in rat ovarian granulosa cells. Mol. Endocrinol. 1998, 12:1393-1409.
-
(1998)
Mol. Endocrinol.
, vol.12
, pp. 1393-1409
-
-
Dajee, M.1
Fey, G.H.2
Richards, J.S.3
-
10
-
-
0027526513
-
Cis-acting elements of the rat aromatase promoter required for cyclic adenosine 3', 5'-monophosphate induction in ovarian granulosa cells and constitutive expression in R2C Leydig cells
-
Fitzpatrick S.L., Richards J.S. Cis-acting elements of the rat aromatase promoter required for cyclic adenosine 3', 5'-monophosphate induction in ovarian granulosa cells and constitutive expression in R2C Leydig cells. Mol. Endocrinol. 1993, 7:341-354.
-
(1993)
Mol. Endocrinol.
, vol.7
, pp. 341-354
-
-
Fitzpatrick, S.L.1
Richards, J.S.2
-
11
-
-
0142168950
-
WT1 and DAX-1 regulate SF-1-mediated human P450arom gene expression in gonadal cells
-
Gurates B., et al. WT1 and DAX-1 regulate SF-1-mediated human P450arom gene expression in gonadal cells. Mol. Cell. Endocrinol. 2003, 208:61-75.
-
(2003)
Mol. Cell. Endocrinol.
, vol.208
, pp. 61-75
-
-
Gurates, B.1
-
12
-
-
0035134357
-
Expression profiles of SF-1, DAX1, and CYP17 in the human fetal adrenal gland: potential interactions in gene regulation
-
Hanley N.A., Rainey W.E., Wilson D.I., Ball S.G., Parker K.L. Expression profiles of SF-1, DAX1, and CYP17 in the human fetal adrenal gland: potential interactions in gene regulation. Mol. Endocrinol. 2001, 15:57-68.
-
(2001)
Mol. Endocrinol.
, vol.15
, pp. 57-68
-
-
Hanley, N.A.1
Rainey, W.E.2
Wilson, D.I.3
Ball, S.G.4
Parker, K.L.5
-
13
-
-
0027997671
-
Sex-dependent expression of a transcription factor, Ad4BP, regulating steroidogenic P-450 genes in the gonads during prenatal and postnatal rat development
-
Hatano O., et al. Sex-dependent expression of a transcription factor, Ad4BP, regulating steroidogenic P-450 genes in the gonads during prenatal and postnatal rat development. Development 1994, 120:2787-2797.
-
(1994)
Development
, vol.120
, pp. 2787-2797
-
-
Hatano, O.1
-
14
-
-
0031049942
-
Premature ovarian failure and ovarian autoimmunity
-
Hoek A., Schoemaker J., Drexhage H.A. Premature ovarian failure and ovarian autoimmunity. Endocrinol. Rev. 1997, 18:107-134.
-
(1997)
Endocrinol. Rev.
, vol.18
, pp. 107-134
-
-
Hoek, A.1
Schoemaker, J.2
Drexhage, H.A.3
-
15
-
-
0028276035
-
Developmental expression of mouse steroidogenic factor 1, an essential regulator of the steroid hydroxylases
-
Ikeda Y., Shen W.-H., Ingraham H.A., Parker K.L. Developmental expression of mouse steroidogenic factor 1, an essential regulator of the steroid hydroxylases. Mol. Endocrinol. 1994, 8:654-662.
-
(1994)
Mol. Endocrinol.
, vol.8
, pp. 654-662
-
-
Ikeda, Y.1
Shen, W.-H.2
Ingraham, H.A.3
Parker, K.L.4
-
16
-
-
74749109906
-
WNT4 is expressed in human fetal and adult ovaries and its signaling contributes to ovarian cell survival
-
Jaaskelainen M., et al. WNT4 is expressed in human fetal and adult ovaries and its signaling contributes to ovarian cell survival. Mol. Cell. Endocrinol. 2010, 317:106-111.
-
(2010)
Mol. Cell. Endocrinol.
, vol.317
, pp. 106-111
-
-
Jaaskelainen, M.1
-
17
-
-
3042755053
-
Cell-specific knockout of steroidogenic factor 1 reveals its essential roles in gonadal function
-
Jeyasuria P., et al. Cell-specific knockout of steroidogenic factor 1 reveals its essential roles in gonadal function. Mol. Endocrinol. 2004, 18:1610-1619.
-
(2004)
Mol. Endocrinol.
, vol.18
, pp. 1610-1619
-
-
Jeyasuria, P.1
-
18
-
-
15844387264
-
A steroidogenic factor-1 binding site is required for activity of the luteinizing hormone beta subunit promoter in gonadotropes of transgenic mice
-
Keri R.A., Nilson J.H. A steroidogenic factor-1 binding site is required for activity of the luteinizing hormone beta subunit promoter in gonadotropes of transgenic mice. J. Biol. Chem. 1996, 271:10782-11095.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 10782-11095
-
-
Keri, R.A.1
Nilson, J.H.2
-
19
-
-
39149108084
-
Recent advances in the study of genes involved in non-syndromic premature ovarian failure
-
Laissue P., Vinci G., Veitia R.A., Fellous M. Recent advances in the study of genes involved in non-syndromic premature ovarian failure. Mol. Cell. Endocrinol. 2008, 282(1-2):101-111.
-
(2008)
Mol. Cell. Endocrinol.
, vol.282
, Issue.1-2
, pp. 101-111
-
-
Laissue, P.1
Vinci, G.2
Veitia, R.A.3
Fellous, M.4
-
20
-
-
70349687369
-
A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failure
-
Lakhal B., et al. A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failure. Clin. Endocrinol. 2009, 71:752-755.
-
(2009)
Clin. Endocrinol.
, vol.71
, pp. 752-755
-
-
Lakhal, B.1
-
21
-
-
0025834536
-
FTZ-F1. A steroid hormone receptor-like protein implicated in the activation of fushi tarazu
-
Lavorgna G., Ueda H., Clos J., Wu C. FTZ-F1. A steroid hormone receptor-like protein implicated in the activation of fushi tarazu. Science 1991, 252:848-851.
-
(1991)
Science
, vol.252
, pp. 848-851
-
-
Lavorgna, G.1
Ueda, H.2
Clos, J.3
Wu, C.4
-
23
-
-
55749088979
-
Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development
-
Lin L., Achermann J.C. Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development. Sex. Dev. 2008, 2:200-209.
-
(2008)
Sex. Dev.
, vol.2
, pp. 200-209
-
-
Lin, L.1
Achermann, J.C.2
-
24
-
-
62749102793
-
Mutations in NR5A1 associated with ovarian insufficiency
-
Lourenço D., et al. Mutations in NR5A1 associated with ovarian insufficiency. N. Engl. J. Med. 2009, 360(12):1200-1210.
-
(2009)
N. Engl. J. Med.
, vol.360
, Issue.12
, pp. 1200-1210
-
-
Lourenço, D.1
-
25
-
-
0028303959
-
A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation
-
Luo X., Ikeda Y., Parker K.L. A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 1994, 77:481-490.
-
(1994)
Cell
, vol.77
, pp. 481-490
-
-
Luo, X.1
Ikeda, Y.2
Parker, K.L.3
-
26
-
-
38749129178
-
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4
-
Mandel H., et al. SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4. Am. J. Hum. Genet. 2008, 82:39-47.
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 39-47
-
-
Mandel, H.1
-
27
-
-
34548413647
-
Mechanisms in the regulation of aromatase in developing ovary and placenta
-
Mendelson C.R., Kamat A. Mechanisms in the regulation of aromatase in developing ovary and placenta. J. Steroid Biochem. Mol. Biol. 2007, 106:62-70.
-
(2007)
J. Steroid Biochem. Mol. Biol.
, vol.106
, pp. 62-70
-
-
Mendelson, C.R.1
Kamat, A.2
-
28
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1998, 16:1215.
-
(1998)
Nucleic Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
29
-
-
0030456473
-
Ad4PB/SF-1, a transcription factor essential for the transcription of steroidogenic cytochrome P450 genes and for establishment of the reproductive function
-
Morohashi K.I., Omura T. Ad4PB/SF-1, a transcription factor essential for the transcription of steroidogenic cytochrome P450 genes and for establishment of the reproductive function. FASEB J. 1996, 10:1569-1577.
-
(1996)
FASEB J.
, vol.10
, pp. 1569-1577
-
-
Morohashi, K.I.1
Omura, T.2
-
30
-
-
0030694255
-
Apoptosis associated signaling pathways are required for chemotherapy-mediated female germ cell destruction
-
Perez G.I., Knudson C.M., Leykin L., Korsmeyer S.J., Tilly J.L. Apoptosis associated signaling pathways are required for chemotherapy-mediated female germ cell destruction. Nat. Med. 1997, 3:1228-1232.
-
(1997)
Nat. Med.
, vol.3
, pp. 1228-1232
-
-
Perez, G.I.1
Knudson, C.M.2
Leykin, L.3
Korsmeyer, S.J.4
Tilly, J.L.5
-
31
-
-
40849126622
-
Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and Mullerian duct abnormalities: a French collaborative study
-
Philibert P., et al. Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and Mullerian duct abnormalities: a French collaborative study. J. Clin. Endocrinol. Metab. 2008, 93:895-900.
-
(2008)
J. Clin. Endocrinol. Metab.
, vol.93
, pp. 895-900
-
-
Philibert, P.1
-
32
-
-
34548288054
-
NOBOX homeobox mutation causes premature ovarian failure
-
Qin Y., Choi Y., Zhao H., Simpson J.L., Chen Z.J., Rajkovic A. NOBOX homeobox mutation causes premature ovarian failure. Am. J. Hum. Genet. 2000, 8(3):576-581.
-
(2000)
Am. J. Hum. Genet.
, vol.8
, Issue.3
, pp. 576-581
-
-
Qin, Y.1
Choi, Y.2
Zhao, H.3
Simpson, J.L.4
Chen, Z.J.5
Rajkovic, A.6
-
33
-
-
0033304638
-
SF-1 (steroidogenic factor-1) and C/EBP beta (CCAAT/enhancer binding protein-beta) cooperate to regulate the murine StAR (steroidogenic acute regulatory) promoter
-
Reinhart A.J., Williams S.C., Clark B.J., Stocco D.M. SF-1 (steroidogenic factor-1) and C/EBP beta (CCAAT/enhancer binding protein-beta) cooperate to regulate the murine StAR (steroidogenic acute regulatory) promoter. Mol. Endocrinol. 1999, 13:729-741.
-
(1999)
Mol. Endocrinol.
, vol.13
, pp. 729-741
-
-
Reinhart, A.J.1
Williams, S.C.2
Clark, B.J.3
Stocco, D.M.4
-
34
-
-
0038326860
-
Mechanisms of premature ovarian failure
-
Santoro N. Mechanisms of premature ovarian failure. Ann. Endocrinol. 2003, 64:87-92.
-
(2003)
Ann. Endocrinol.
, vol.64
, pp. 87-92
-
-
Santoro, N.1
-
35
-
-
0028308118
-
Nuclear receptor steroidogenic factor 1 regulates the Mullerian inhibiting substance gene: a link to the sex determination cascade
-
Shen W.H., Moore C.C.D., Ikeda Y., Parker K.L., Ingraham H.A. Nuclear receptor steroidogenic factor 1 regulates the Mullerian inhibiting substance gene: a link to the sex determination cascade. Cell 1994, 77:651-661.
-
(1994)
Cell
, vol.77
, pp. 651-661
-
-
Shen, W.H.1
Moore, C.C.D.2
Ikeda, Y.3
Parker, K.L.4
Ingraham, H.A.5
-
36
-
-
0030920230
-
Multiple steroidogenic factor 1 binding elements in the human steroidogenic acute regulatory protein gene 5'-flanking region are required for maximal promoter activity and cyclic AMP responsiveness
-
Sugawara T., Kiriakidou M., McAllister J.M., Kallen C.B., Strauss J.F. Multiple steroidogenic factor 1 binding elements in the human steroidogenic acute regulatory protein gene 5'-flanking region are required for maximal promoter activity and cyclic AMP responsiveness. Biochemistry 1997, 36:7249-7255.
-
(1997)
Biochemistry
, vol.36
, pp. 7249-7255
-
-
Sugawara, T.1
Kiriakidou, M.2
McAllister, J.M.3
Kallen, C.B.4
Strauss, J.F.5
-
37
-
-
0029090464
-
Immunohistochemical localization of Ad4-binding protein with correlation to steroidogenic enzyme expression in cycling human ovaries and sex cord stromal tumors
-
Takamaya K., et al. Immunohistochemical localization of Ad4-binding protein with correlation to steroidogenic enzyme expression in cycling human ovaries and sex cord stromal tumors. J. Clin. Endocrinol. Metab. 1995, 80:2815-2821.
-
(1995)
J. Clin. Endocrinol. Metab.
, vol.80
, pp. 2815-2821
-
-
Takamaya, K.1
-
38
-
-
0033521967
-
Female development in mammals is regulated by Wnt-4 signalling
-
Vainio S., Heikkila M., Kispert A., Chin N., Mc Mahon A.P. Female development in mammals is regulated by Wnt-4 signalling. Nature 1999, 397:405-409.
-
(1999)
Nature
, vol.397
, pp. 405-409
-
-
Vainio, S.1
Heikkila, M.2
Kispert, A.3
Chin, N.4
Mc Mahon, A.P.5
-
39
-
-
25644454382
-
Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1
-
Wada Y., Okada M., Hasegawa T., Ogata T. Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1. Endocr. J. 2005, 52:445-448.
-
(2005)
Endocr. J.
, vol.52
, pp. 445-448
-
-
Wada, Y.1
Okada, M.2
Hasegawa, T.3
Ogata, T.4
-
40
-
-
32944463462
-
Association of cryptorchidism with Gly 146Ala polymorphism in the gene for steroidogenic factor-1
-
Wada Y., Okada M., Fukami M., Sasagawa I., Ogata T. Association of cryptorchidism with Gly 146Ala polymorphism in the gene for steroidogenic factor-1. Fertil. Steril. 2006, 85:787-789.
-
(2006)
Fertil. Steril.
, vol.85
, pp. 787-789
-
-
Wada, Y.1
Okada, M.2
Fukami, M.3
Sasagawa, I.4
Ogata, T.5
-
41
-
-
33746564525
-
Switching of NR5A proteins associated with the inhibin alpha-subunit gene promoter after activation of the gene in granulosa cells
-
Weck J., Mayo K.E. Switching of NR5A proteins associated with the inhibin alpha-subunit gene promoter after activation of the gene in granulosa cells. Mol. Endocrinol. 2006, 20:1090-1103.
-
(2006)
Mol. Endocrinol.
, vol.20
, pp. 1090-1103
-
-
Weck, J.1
Mayo, K.E.2
-
42
-
-
0027957606
-
Two orphan receptors binding to a common site are involved in the regulation of the oxytocin gene in the bovine ovary
-
Wehrenberg U., Ivell R., Jansen M., Von Goedecke S., Walther N. Two orphan receptors binding to a common site are involved in the regulation of the oxytocin gene in the bovine ovary. Proc. Natl. Acad. Sci. 1994, 91:1440-1444.
-
(1994)
Proc. Natl. Acad. Sci.
, vol.91
, pp. 1440-1444
-
-
Wehrenberg, U.1
Ivell, R.2
Jansen, M.3
Von Goedecke, S.4
Walther, N.5
-
43
-
-
84866375173
-
The Gly146Ala variation in human SF-1 gene: its association with insulin resistance and type 2 diabetes in Chinese
-
Wei L., Min L., Wu Qiang F., Hajime N., Toshihiko Y. The Gly146Ala variation in human SF-1 gene: its association with insulin resistance and type 2 diabetes in Chinese. Diabetes 2006, 3526:1-7.
-
(2006)
Diabetes
, vol.3526
, pp. 1-7
-
-
Wei, L.1
Min, L.2
Wu Qiang, F.3
Hajime, N.4
Toshihiko, Y.5
-
44
-
-
0242606222
-
Functional characterization of a new human Ad4BP/SF-1 variation, G146A
-
Wu Qiang F., et al. Functional characterization of a new human Ad4BP/SF-1 variation, G146A. Biochem. Biophys. Res. Commun. 2003, 311:987-994.
-
(2003)
Biochem. Biophys. Res. Commun.
, vol.311
, pp. 987-994
-
-
Wu Qiang, F.1
-
45
-
-
2442715158
-
Follistatin operates downstream of Wnt4 in mammalian ovary organogenesis
-
Yao H.H., et al. Follistatin operates downstream of Wnt4 in mammalian ovary organogenesis. Dev. Dyn. 2004, 230:210-215.
-
(2004)
Dev. Dyn.
, vol.230
, pp. 210-215
-
-
Yao, H.H.1
-
46
-
-
45449120985
-
Transcription factor FIGLA is mutated in patients with premature ovarian failure
-
Zhao H., et al. Transcription factor FIGLA is mutated in patients with premature ovarian failure. Am. J. Hum. Genet. 2008, 82(6):1342-1348.
-
(2008)
Am. J. Hum. Genet.
, vol.82
, Issue.6
, pp. 1342-1348
-
-
Zhao, H.1
|