-
1
-
-
0020508397
-
The blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types
-
Zlotogora J, Sagi M, Cohen T 1983 The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet 35:1020-1027 (Pubitemid 13008598)
-
(1983)
American Journal of Human Genetics
, vol.35
, Issue.5
, pp. 1020-1027
-
-
Zlotogora, J.1
Sagi, M.2
Cohen, T.3
-
2
-
-
0035131812
-
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
-
DOI 10.1038/84781
-
Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G 2001 The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ ptosis/epicanthus inversus syndrome. Nature genetics 27:159-166 (Pubitemid 32157442)
-
(2001)
Nature Genetics
, vol.27
, Issue.2
, pp. 159-166
-
-
Crisponi, L.1
Deiana, M.2
Loi, A.3
Chiappe, F.4
Uda, M.5
Amati, P.6
Bisceglia, L.7
Zelante, L.8
Nagaraja, R.9
Porcu, S.10
Serafina, R.M.11
Marzella, R.12
Rocchi, M.13
Nicolino, M.14
Lienhardt-Roussie, A.15
Nivelon, A.16
Verloes, A.17
Schlessinger, D.18
Gasparini, P.19
Bonneau, D.20
Cao, A.21
Pilia, G.22
more..
-
3
-
-
0023790695
-
An association among blepharophimosis, resistant ovary syndrome, and true premature menopause
-
Fraser IS, Shearman RP, Smith A, Russell P 1988 An association among blepharophimosis, resistant ovary syndrome, and true premature menopause. Fertil Steril 50:747-751
-
(1988)
Fertil Steril
, vol.50
, pp. 747-751
-
-
Fraser, I.S.1
Shearman, R.P.2
Smith, A.3
Russell, P.4
-
4
-
-
72849121467
-
FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case report
-
Meduri G, Bachelot A, Duflos C, Bstandig B, Poirot C, Genestie C, Veitia R, De Baere E, Touraine P 2010 FOXL2 mutations lead to different ovarian phenotypes in BPES patients: case report. Hum Reprod 25:235-243
-
(2010)
Hum Reprod
, vol.25
, pp. 235-243
-
-
Meduri, G.1
Bachelot, A.2
Duflos, C.3
Bstandig, B.4
Poirot, C.5
Genestie, C.6
Veitia, R.7
De Baere, E.8
Touraine, P.9
-
5
-
-
0035878536
-
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
-
De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L 2001 Spectrum of FOXL2 gene mutations in blepharophimosis- ptosisepicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation. Hum Molr Genet 10:1591-1600 (Pubitemid 32734311)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.15
, pp. 1591-1600
-
-
De Baere, E.1
Dixon, M.J.2
Small, K.W.3
Jabs, E.W.4
Leroy, B.P.5
Devriendt, K.6
Gillerot, Y.7
Mortier, G.8
Meire, F.9
Van Maldergem, L.10
Courtens, W.11
Hjalgrim, H.12
Huang, S.13
Liebaers, I.14
Van Regemorter, N.15
Touraine, P.16
Praphanphoj, V.17
Verloes, A.18
Udar, N.19
Yellore, V.20
Chalukya, M.21
Yelchits, S.22
De Paepe, A.23
Kuttenn, F.24
Fellous, M.25
Veitia, R.26
Messiaen, L.27
more..
-
6
-
-
18644370681
-
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
-
DOI 10.1002/ajmg.10741
-
Ramírez-Castro JL, Pineda-Trujillo N, Valencia AV, Muñetón CM, Botero O, Trujillo O, Vásquez G, Mora BE, Durango N, Bedoya G, Ruiz-Linares A 2002 Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families. Am J Med Genet 113:47-51 (Pubitemid 35192586)
-
(2002)
American Journal of Medical Genetics
, vol.113
, Issue.1
, pp. 47-51
-
-
Ramirez-Castro, J.L.1
Pineda-Trujillo, N.2
Valencia, A.V.3
Muneton, C.M.4
Botero, O.5
Trujillo, O.6
Vasquez, G.7
Mora, B.E.8
Durango, N.9
Bedoya, G.10
Ruiz-Linares, A.11
-
7
-
-
0037318857
-
FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
-
DOI 10.1086/346118
-
De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP, Garza A, Jonsrud C, Koivisto PA, Krause A, Leroy BP, Meire F, Plomp A, Van Maldergem L, De Paepe A, Veitia R, Messiaen L 2003 FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype- phenotype correlation. Am J Hum Genet 72:478-487 (Pubitemid 36194256)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.2
, pp. 478-487
-
-
De Baere, E.1
Beysen, D.2
Oley, C.3
Lorenz, B.4
Cocquet, J.5
De Sutter, P.6
Devriendt, K.7
Dixon, M.8
Fellous, M.9
Fryns, J.-P.10
Garza, A.11
Jonsrud, C.12
Koivisto, P.A.13
Krause, A.14
Leroy, B.P.15
Meire, F.16
Plomp, A.17
Van Maldergem, L.18
De Paepe, A.19
Veitia, R.20
Messiaen, L.21
more..
-
8
-
-
3042554114
-
Forkhead L2 is expressed in the ovary and represses the promoter activity of the steroidogenic acute regulatory gene
-
DOI 10.1210/en.2003-1141
-
Pisarska MD, Bae J, Klein C, Hsueh AJ 2004 Forkhead l2 is expressed in the ovary and represses the promoter activity of the steroidogenic acute regulatory gene. Endocrinology 145:3424-3433 (Pubitemid 38830015)
-
(2004)
Endocrinology
, vol.145
, Issue.7
, pp. 3424-3433
-
-
Pisarska, M.D.1
Bae, J.2
Klein, C.3
Hsueh, A.J.W.4
-
9
-
-
2642653223
-
Multistep signaling requirements for pituitary organogenesis in vivo
-
Treier M, Gleiberman AS, O'Connell SM, Szeto DP, McMahon JA, McMahon AP, Rosenfeld MG 1998 Multistep signaling requirements for pituitary organogenesis in vivo. Genes Dev 12:1691-1704 (Pubitemid 28299519)
-
(1998)
Genes and Development
, vol.12
, Issue.11
, pp. 1691-1704
-
-
Treier, M.1
Gleiberman, A.S.2
O'Connell, S.M.3
Szeto, D.P.4
McMahon, J.A.5
McMahon, A.P.6
Rosenfeld, M.G.7
-
10
-
-
0028104418
-
The purification, cloning, and expression of a novel luteinizing hormone-induced mitochondrial protein in MA-10 mouse Leydig tumor cells. Characterization of the steroidogenic acute regulatory protein (StAR)
-
Clark BJ, Wells J, King SR, Stocco DM 1994 The purification, cloning, and expression of a novel luteinizing hormone-induced mitochondrial protein in MA-10 mouse Leydig tumor cells. Characterization of the steroidogenic acute regulatory protein (StAR). J Biol Chem 269:28314-28322
-
(1994)
J Biol Chem
, vol.269
, pp. 28314-28322
-
-
Clark, B.J.1
Wells, J.2
King, S.R.3
Stocco, D.M.4
-
11
-
-
0028944669
-
Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis
-
Lin D, Sugawara T, Strauss JF 3rd, Clark BJ, Stocco DM, Saenger P, Rogol A, Miller WL 1995 Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science 267:1828-1831
-
(1995)
Science
, vol.267
, pp. 1828-1831
-
-
Lin, D.1
Sugawara, T.2
Strauss III, J.F.3
Clark, B.J.4
Stocco, D.M.5
Saenger, P.6
Rogol, A.7
Miller, W.L.8
-
12
-
-
0035047848
-
StAR protein and the regulation of steroid hormone biosynthesis
-
DOI 10.1146/annurev.physiol.63.1.193
-
Stocco DM 2001 StAR protein and the regulation of steroid hormone biosynthesis. Annu Rev Physiol 63:193-213 (Pubitemid 32304316)
-
(2001)
Annual Review of Physiology
, vol.63
, pp. 193-213
-
-
Stocco, D.M.1
-
13
-
-
77952542380
-
Human forkhead L2 represses key genes in granulosa cell differentiation including aromatase, P450scc, and cyclin D2
-
Bentsi-Barnes IK, Kuo FT, Barlow GM, Pisarska MD 2010 Human forkhead L2 represses key genes in granulosa cell differentiation including aromatase, P450scc, and cyclin D2. Fertil Steril 94:353-356
-
(2010)
Fertil Steril
, vol.94
, pp. 353-356
-
-
Bentsi-Barnes, I.K.1
Kuo, F.T.2
Barlow, G.M.3
Pisarska, M.D.4
-
14
-
-
0036008552
-
Exploring the etiology of haploinsufficiency
-
DOI 10.1002/bies.10023
-
Veitia RA 2002 Exploring the etiology of haploinsufficiency. Bioessays 24:175-184 (Pubitemid 34179296)
-
(2002)
BioEssays
, vol.24
, Issue.2
, pp. 175-184
-
-
Veitia, R.A.1
-
15
-
-
0026682657
-
Transcription factors: Structural families and principles of DNA recognition
-
Pabo CO, Sauer RT 1992 Transcription factors: structural families and principles of DNA recognition. Annu Rev Biochem 61:1053-1095
-
(1992)
Annu Rev Biochem
, vol.61
, pp. 1053-1095
-
-
Pabo, C.O.1
Sauer, R.T.2
-
16
-
-
0025995844
-
A structural taxonomy of DNA-binding domains
-
Harrison SC 1991 A structural taxonomy of DNA-binding domains. Nature 353:715-719
-
(1991)
Nature
, vol.353
, pp. 715-719
-
-
Harrison, S.C.1
-
17
-
-
0037544037
-
OBF1 enhances transcriptional potential of Oct1
-
DOI 10.1093/emboj/cdg199
-
Lins K, Reményi A, Tomilin A, Massa S, Wilmanns M, Matthias P, Schöler HR 2003 OBF1 enhances transcriptional potential of Oct1. EMBO J 22:2188-2198 (Pubitemid 36565542)
-
(2003)
EMBO Journal
, vol.22
, Issue.9
, pp. 2188-2198
-
-
Lins, K.1
Remenyi, A.2
Tomilin, A.3
Massa, S.4
Wilmanns, M.5
Matthias, P.6
Scholer, H.R.7
-
18
-
-
0034768606
-
Crystallization of redox-insensitive Oct1 POU domain with different DNA-response elements
-
DOI 10.1107/S090744490101099X
-
Reményi A, Pohl E, Schöler HR, Wilmanns M 2001 Crystallization of redox-insensitive Oct1 POU domain with different DNA-response elements. Acta Crystallogr D Biol Crystallogr 57:1634-1638 (Pubitemid 33037728)
-
(2001)
Acta Crystallographica Section D: Biological Crystallography
, vol.57
, Issue.11
, pp. 1634-1638
-
-
Remenyi, A.1
Pohl, E.2
Scholer, H.R.3
Wilmanns, M.4
-
19
-
-
67449084841
-
Idiosyncratic helix-turn-helix motif in Methanosarcina barkeri seryl-tRNA synthetase has a critical architectural role
-
Bilokapic S, Ivic N, Godinic-Mikulcic V, Piantanida I, Ban N, Weygand-Durasevic I 2009 Idiosyncratic helix-turn-helix motif in Methanosarcina barkeri seryl-tRNA synthetase has a critical architectural role. J Biol Chem 284:10706-10713
-
(2009)
J Biol Chem
, vol.284
, pp. 10706-10713
-
-
Bilokapic, S.1
Ivic, N.2
Godinic-Mikulcic, V.3
Piantanida, I.4
Ban, N.5
Weygand-Durasevic, I.6
-
20
-
-
78049503704
-
Activin A regulates porcine follicle-stimulating hormone beta-subunit transcription via cooperative actions of SMADs and FOXL2
-
Lamba P, Wang Y, Tran S, Ouspenskaia T, Libasci V, Hébert TE, Miller GJ, Bernard DJ 2010 Activin A regulates porcine follicle-stimulating hormone beta-subunit transcription via cooperative actions of SMADs and FOXL2. Endocrinology 151:5456-5467
-
(2010)
Endocrinology
, vol.151
, pp. 5456-5467
-
-
Lamba, P.1
Wang, Y.2
Tran, S.3
Ouspenskaia, T.4
Libasci, V.5
Hébert, T.E.6
Miller, G.J.7
Bernard, D.J.8
-
21
-
-
33644800026
-
Structure of the forkhead domain of FOXP2 bound to DNA
-
DOI 10.1016/j.str.2005.10.005, PII S0969212605004338
-
Stroud JC, Wu Y, Bates DL, Han A, Nowick K, Paabo S, Tong H, Chen L 2006 Structure of the forkhead domain of FOXP2 bound to DNA. Structure 14:159-166 (Pubitemid 43350083)
-
(2006)
Structure
, vol.14
, Issue.1
, pp. 159-166
-
-
Stroud, J.C.1
Wu, Y.2
Bates, D.L.3
Han, A.4
Nowick, K.5
Paabo, S.6
Tong, H.7
Chen, L.8
-
22
-
-
67649592212
-
A novel role for the forkhead transcription factor FOXL2 in activin A-regulated follicle-stimulating hormone beta subunit transcription
-
Lamba P, Fortin J, Tran S, Wang Y, Bernard DJ 2009 A novel role for the forkhead transcription factor FOXL2 in activin A-regulated follicle-stimulating hormone beta subunit transcription. Mol Endocrinol 23:1001-1013
-
(2009)
Mol Endocrinol
, vol.23
, pp. 1001-1013
-
-
Lamba, P.1
Fortin, J.2
Tran, S.3
Wang, Y.4
Bernard, D.J.5
-
23
-
-
53349176609
-
The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles
-
Benayoun BA, Caburet S, Dipietromaria A, Bailly-Bechet M, Batista F, Fellous M, Vaiman D, Veitia RA 2008 The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles. Hum Mol Genet 17:3118-3127
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3118-3127
-
-
Benayoun, B.A.1
Caburet, S.2
Dipietromaria, A.3
Bailly-Bechet, M.4
Batista, F.5
Fellous, M.6
Vaiman, D.7
Veitia, R.A.8
-
24
-
-
17744364049
-
Establishment and characterization of a steroidogenic human granulosa-like tumor cell line, KGN, that expresses functional follicle-stimulating hormone receptor
-
DOI 10.1210/en.142.1.437
-
Nishi Y, Yanase T, Mu Y, Oba K, Ichino I, Saito M, Nomura M, Mukasa C, Okabe T, Goto K, Takayanagi R, Kashimura Y, Haji M, Nawata H 2001 Establishment and characterization of a steroidogenic human granulosa-like tumor cell line, KGN, that expresses functional follicle-stimulating hormone receptor. Endocrinology 142:437-445 (Pubitemid 32183706)
-
(2001)
Endocrinology
, vol.142
, Issue.1
, pp. 437-445
-
-
Nishi, Y.1
Yanase, T.2
Mu, Y.-M.3
Oba, K.4
Ichino, I.5
Saito, M.6
Nomura, M.7
Mukasa, C.8
Okabe, T.9
Goto, K.10
Takayanagi, R.11
Kashimura, Y.12
Haji, M.13
Nawata, H.14
-
25
-
-
0027270989
-
Co-crystal structure of the HNF-3/fork head DNA-recognition motif resembles histone H5
-
DOI 10.1038/364412a0
-
Clark KL, Halay ED, Lai E, Burley SK 1993 Co-crystal structure of the HNF-3/fork head DNA-recognition motif resembles histone H5. Nature 364:412-420 (Pubitemid 23263212)
-
(1993)
Nature
, vol.364
, Issue.6436
, pp. 412-420
-
-
Clark, K.L.1
Halay, E.D.2
Lai, E.3
Burley, S.K.4
-
26
-
-
33745463549
-
The mutant leucine-zipper domain impairs both dimerization and suppressive function of Foxp3 in T cells
-
DOI 10.1073/pnas.0600225103
-
Chae WJ, Henegariu O, Lee SK, Bothwell AL 2006 The mutant leucine-zipper domain impairs both dimerization and suppressive function of Foxp3 in T cells. Proc Natl Acad Sci USA 103:9631-9636 (Pubitemid 43955876)
-
(2006)
Proceedings of the National Academy of Sciences of the United States of America
, vol.103
, Issue.25
, pp. 9631-9636
-
-
Chae, W.-J.1
Henegariu, O.2
Lee, S.-K.3
Bothwell, A.L.M.4
-
28
-
-
70349783734
-
Sumoylation of forkhead L2 by Ubc9 is required for its activity as a transcriptional repressor of the Steroidogenic Acute Regulatory gene
-
Kuo FT, Bentsi-Barnes IK, Barlow GM, Bae J, Pisarska MD 2009 Sumoylation of forkhead L2 by Ubc9 is required for its activity as a transcriptional repressor of the Steroidogenic Acute Regulatory gene. Cell Signal 21:1935-1944
-
(2009)
Cell Signal
, vol.21
, pp. 1935-1944
-
-
Kuo, F.T.1
Bentsi-Barnes, I.K.2
Barlow, G.M.3
Bae, J.4
Pisarska, M.D.5
-
29
-
-
77953441361
-
LATS1 phosphorylates forkhead L2 and regulates its transcriptional activity
-
Pisarska MD, Kuo FT, Bentsi-Barnes IK, Khan S, Barlow GM 2010 LATS1 phosphorylates forkhead L2 and regulates its transcriptional activity. Am J Physiol Endocrinol Metab 299:E101-E109
-
(2010)
Am J Physiol Endocrinol Metab
, vol.299
-
-
Pisarska, M.D.1
Kuo, F.T.2
Bentsi-Barnes, I.K.3
Khan, S.4
Barlow, G.M.5
-
30
-
-
16344385453
-
E47 phosphorylation by p38 MAPK promotes MyoD/E47 association and muscle-specific gene transcription
-
DOI 10.1038/sj.emboj.7600528
-
Lluís F, Ballestar E, Suelves M, Esteller M, Muñoz- Cánoves P 2005 E47 phosphorylation by p38 MAPK promotes MyoD/E47 association and muscle-specific gene transcription. EMBO J 24:974-984 (Pubitemid 40470146)
-
(2005)
EMBO Journal
, vol.24
, Issue.5
, pp. 974-984
-
-
Lluis, F.1
Ballestar, E.2
Suelves, M.3
Esteller, M.4
Munoz-Canoves, P.5
-
31
-
-
79954545155
-
Transcription factor FOXL2 protects granulosa cells from stress and delays cell cycle: Role of its regulation by the SIRT1 deacetylase
-
Benayoun BA, Georges AB, L'HôteD, Andersson N, Dipietromaria A, Todeschini AL, Caburet S, Bazin C, Anttonen M, Veitia RA 2011 Transcription factor FOXL2 protects granulosa cells from stress and delays cell cycle: role of its regulation by the SIRT1 deacetylase.Hum Mol Genet 20:1673-1686
-
(2011)
Hum Mol Genet
, vol.20
, pp. 1673-1686
-
-
Benayoun, B.A.1
Georges, A.B.2
L'Hôte, D.3
Andersson, N.4
Dipietromaria, A.5
Todeschini, A.L.6
Caburet, S.7
Bazin, C.8
Anttonen, M.9
Veitia, R.A.10
-
32
-
-
77954839635
-
FOXL2 interacts with steroidogenic factor-1 (SF-1) and represses SF-1-induced CYP17 transcription in granulosa cells
-
Park M, Shin E, Won M, Kim JH, Go H, Kim HL, Ko JJ, Lee K, Bae J 2010 FOXL2 interacts with steroidogenic factor-1 (SF-1) and represses SF-1-induced CYP17 transcription in granulosa cells. Mol Endocrinol 24:1024-1036
-
(2010)
Mol Endocrinol
, vol.24
, pp. 1024-1036
-
-
Park, M.1
Shin, E.2
Won, M.3
Kim, J.H.4
Go, H.5
Kim, H.L.6
Ko, J.J.7
Lee, K.8
Bae, J.9
-
33
-
-
33847203240
-
Foxl2 up-regulates aromatase gene transcription in a female-specific manner by binding to the promoter as well as interacting with ad4 binding protein/steroidogenic factor 1
-
Wang DS, Kobayashi T, Zhou LY, Paul-Prasanth B, Ijiri S, Sakai F, Okubo K, Morohashi K, Nagahama Y 2007 Foxl2 up-regulates aromatase gene transcription in a female-specific manner by binding to the promoter as well as interacting with ad4 binding protein/steroidogenic factor 1. Mol Endocrinol 21:712-725
-
(2007)
Mol Endocrinol
, vol.21
, pp. 712-725
-
-
Wang, D.S.1
Kobayashi, T.2
Zhou, L.Y.3
Paul-Prasanth, B.4
Ijiri, S.5
Sakai, F.6
Okubo, K.7
Morohashi, K.8
Nagahama, Y.9
-
34
-
-
65549156606
-
FoxL2 and Smad3 coordinately regulate follistatin gene transcription
-
Blount AL, Schmidt K, Justice NJ, Vale WW, Fischer WH, Bilezikjian LM 2009 FoxL2 and Smad3 coordinately regulate follistatin gene transcription. J Biol Chem 284:7631-7645
-
(2009)
J Biol Chem
, vol.284
, pp. 7631-7645
-
-
Blount, A.L.1
Schmidt, K.2
Justice, N.J.3
Vale, W.W.4
Fischer, W.H.5
Bilezikjian, L.M.6
-
35
-
-
84355161774
-
Relative expression of genes encoding SMAD signal transduction factors in human granulosa cells is correlated with oocyte quality
-
16 July 10.1007/s10815-011-9609-6
-
Kuo FT, Fan K, Ambartsumyan G, Menon P, Ketefian A, Bentsi-Barnes IK, Pisarska MD 16 July 2011 Relative expression of genes encoding SMAD signal transduction factors in human granulosa cells is correlated with oocyte quality. J Assist Reprod Genet 10.1007/s10815-011-9609-6
-
(2011)
J Assist Reprod Genet
-
-
Kuo, F.T.1
Fan, K.2
Ambartsumyan, G.3
Menon, P.4
Ketefian, A.5
Bentsi-Barnes, I.K.6
Pisarska, M.D.7
|