Hare, L., Bernard, P., Sanchez, F. J., Vilain, E., Kennedy, T., & Harley, V. Androgen receptor (AR) repeat length polymorphism associated with male-to-female transsexualism.
Biological Psychiatry.
;
65: 93-96, 2009:
.
Sanchez, F. J., Vilain, E. Collective self-esteem as a coping resource for male-to-female transsexuals.
Journal of Counseling Psychology
;
56: 202-209, 2009:
.
Sanchez, F. J., Greenberg, S., Liu, W. M., & Vilain, E. Reported effects of masculine ideals on gay men.
Psychology of Men & Masculinity
;
10:73-88, 2009:
.
Miousse ER, Watkins D, Lavallee J, Coelho D, Clarke JTR, Crombez E, Vilain E, Cederbaum S, Berstein J, Cowan T, Enns BM, Fowler B, Rosenblatt D Clinical and genetic findings in patients with the cblD inborn error of cobalamin metabolism.
J Pediatrics
;
2008, in press:
.
Bernard P, Sim H, Knower K, Vilain E, Harley V Human SRY inhibits beta-catenin-mediated transcription.
Int J Biochem Cell Biol.
;
40: 2889-2900, 2008:
.
Kerkel K, Spadola A, Yuan E, Kosek J, Jiang L, Hod E, Li K, Murty VV, Vilain E, Morris M, Haghighi F, Tycko B Genome-wide surveys by MSNP show allele-specific DNA methylation tracking with single-nucleotide polymorphisms.
Nature Genetics
;
40: 904-908, 2008:
.
Roselli CE, Bocklandt S, Stadelman HL, Wadsworth T, Vilain E, Stormshak F Prolactin expression in the sheep brain.
Neuroendocrinology
;
87: 206-215, 2008:
.
Nikolova G, Sinsheimer J, Vilain E Region on mouse chromosome 11 provides protection from sex reversal in a C57BL/6JYpos Congenic Strain.
Genetics
;
179: 419-427, 2008:
.
Bernard P, Fleming A, Lacombe A, Vilain E Wnt4 inhibits beta-catenin/TCF signaling by redirecting beta-catenin to the cell membrane.
Biol Cell
;
100: 167-177, 2008:
.
Lacombe A, Lelievre V, Roselli CE, Muller JM, Waschek JA, Vilain E Lakc of vasoactive intestinal peptide reduces testosterone levels and reproductive aging in mouse testis.
J Endocrinol
;
194: 153-60, 2007:
.
Li Y, Vilain E, Conte F, Rajpert-De Meyts E, Lau YF Testis-specific protein Y-encoded gene is expressed in early and late stages of gonadoblastoma and testicular carcinoma in situ.
Urol Oncol
;
25: 141-6, 2007:
.
Bernard, P. Ludbrook, L. Queipo, G. Dinulos, M. B. Kletter, G. B. Zhang, Y. H. Phelan, J. K. McCabe, E. R. Harley, V. R. Vilain, E. A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female.
Mol Genet Metab.
2006;
.
Lacombe, A. Lelievre, V. Roselli, C. E. Salameh, W. Lue, Y. H. Lawson, G. Muller, J. M. Waschek, J. A. Vilain, E. Delayed testicular aging in pituitary adenylate cyclase-activating peptide (PACAP) null mice.
Proc Natl Acad Sci U S A.
2006;
.
Dewing, P. Chiang, C. W. Sinchak, K. Sim, H. Fernagut, P. O. Kelly, S. Chesselet, M. F. Micevych, P. E. Albrecht, K. H. Harley, V. R. Vilain, E. Direct regulation of adult brain function by the male-specific factor SRY.
Curr Biol.
2006;
16(4):
415-20.
Bocklandt, S. Horvath, S. Vilain, E. Hamer, D. H. Extreme skewing of X chromosome inactivation in mothers of homosexual men.
Hum Genet.
2006;
118(6):
691-4.
Hutz, J. E. Krause, A. S. Achermann, J. C. Vilain, E. Tauber, M. Lecointre, C. McCabe, E. R. Hammer, G. D. Keegan, C. E. IMAGe association and congenital adrenal hypoplasia: No disease-causing mutations found in the ACD gene.
Mol Genet Metab.
2006;
.
Fleming, A. Vilain, E. The endless quest for sex determination genes.
Clin Genet.
2005;
67(1):
15-25.
Vilain, E. Dead chromosome walking.
Pediatr Res.
2004;
55(4):
539-40.
Keegan, C. E. Vilain, E. Mohammed, M. Lehoczky, J. Dobyns, W. B. Archer, S. M. Innis, J. W. Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.
Am J Med Genet A.
2004;
125(3):
293-8.
Domenice, S. Correa, R. V. Costa, E. M. Nishi, M. Y. Vilain, E. Arnhold, I. J. Mendonca, B. B. Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.
Braz J Med Biol Res.
2004;
37(1):
145-50.
Bernard, P. Tang, P. Liu, S. Dewing, P. Harley, V. R. Vilain, E. Dimerization of SOX9 is required for chondrogenesis, but not for sex determination.
Hum Mol Genet.
2003;
12(14):
1755-65.
Dewing, P. Shi, T. Horvath, S. Vilain, E. Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation.
Brain Res Mol Brain Res.
2003;
118(1-2):
82-90.
Jordan, B. K. Shen, J. H. Olaso, R. Ingraham, H. A. Vilain, E. Wnt4 overexpression disrupts normal testicular vasculature and inhibits testosterone synthesis by repressing steroidogenic factor 1/beta-catenin synergy.
Proc Natl Acad Sci U S A.
2003;
100(19):
10866-71.
Shalitin, S. Josefsberg, Z. Vilain, E. Shomrat, R. Weintrob, N. Adrenal hypoplasia congenita with multiple pituitary hormone deficiency without documented mutation in DAX1 or SF1 gene.
Mol Genet Metab.
2002;
76(2):
157-61.
Vilain, E. Anomalies of human sexual development: clinical aspects and genetic analysis.
Novartis Found Symp.
2002;
244:
43-53; discussion 53-6, 79-85, 253-7.
Cederbaum, S. D. Koo-McCoy, S. Tein, I. Hsu, B. Y. Ganguly, A. Vilain, E. Dipple, K. Cvitanovic-Sojat, L. Stanley, C. Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency.
Mol Genet Metab.
2002;
77(3):
195-201.
Dewing, P. Bernard, P. Vilain, E. Disorders of gonadal development.
Semin Reprod Med.
2002;
20(3):
189-98.
Jordan, B. K. Jain, M. Natarajan, S. Frasier, S. D. Vilain, E. Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.
J Clin Endocrinol Metab.
2002;
87(7):
3428-32.
Jordan, B. K. Vilain, E. Sry and the genetics of sex determination.
Adv Exp Med Biol.
2002;
511:
1-13; discussion 13-4.
Patel, M. Dorman, K. S. Zhang, Y. H. Huang, B. L. Arnold, A. P. Sinsheimer, J. S. Vilain, E. McCabe, E. R. Primate DAX1, SRY, and SOX9: evolutionary stratification of sex-determination pathway.
Am J Hum Genet.
2001;
68(1):
275-80.
Jordan, B. K. Mohammed, M. Ching, S. T. Delot, E. Chen, X. N. Dewing, P. Swain, A. Rao, P. N. Elejalde, B. R. Vilain, E. Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.
Am J Hum Genet.
2001;
68(5):
1102-9.
Zhang, Y. Dipple, K. M. Vilain, E. Huang, B. L. Finlayson, G. Therrell, B. L. Worley, K. Deininger, P. McCabe, E. R. AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.
Hum Mutat.
2000;
15(4):
316-23.
Cederbaum, S. Vilain, E. Defects in energy metabolism: coming of age, slowly.
J Pediatr.
2000;
136(2):
147-8.
Dewing, P. Ching, S. T. Zhang, Y. H. Huang, B. L. Peirce, R. M. McCabe, E. R. Vilain, E. Midkine is expressed early in rat fetal adrenal development.
Mol Genet Metab.
2000;
71(4):
616-22.
Vilain, E. Le Merrer, M. Lecointre, C. Desangles, F. Kay, M. A. Maroteaux, P. McCabe, E. R. IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.
J Clin Endocrinol Metab.
1999;
84(12):
4335-40.
Cederbaum, S. Vilain, E. Newborn screening for inborn errors of metabolism is going to expand: are we ready?.
J Pediatr.
1999;
134(6):
666-7.
Vilain, E. CYPs, SNPs, and molecular diagnosis in the postgenomic era.
Clin Chem.
1998;
44(12):
2403-4.
Zhang, Y. H. Guo, W. Wagner, R. L. Huang, B. L. McCabe, L. Vilain, E. Burris, T. P. Anyane-Yeboa, K. Burghes, A. H. Chitayat, D. Chudley, A. E. Genel, M. Gertner, J. M. Klingensmith, G. J. Levine, S. N. Nakamoto, J. New, M. I. Pagon, R. A. Pappas, J. G. Quigley, C. A. Rosenthal, I. M. Baxter, J. D. Fletterick, R. J. McCabe, E. R. DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
Am J Hum Genet.
1998;
62(4):
855-64.
Vilain, E. McCabe, E. R. Mammalian sex determination: from gonads to brain.
Mol Genet Metab.
1998;
65(2):
74-84.
Vilain, E. Guo, W. Zhang, Y. H. McCabe, E. R. DAX1 gene expression upregulated by steroidogenic factor 1 in an adrenocortical carcinoma cell line.
Biochem Mol Med.
1997;
61(1):
1-8.
McElreavey, K. Vilain, E. Barbaux, S. Fuqua, J. S. Fechner, P. Y. Souleyreau, N. Doco-Fenzy, M. Gabriel, R. Quereux, C. Fellous, M. Berkovitz, G. D. Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.
Proc Natl Acad Sci U S A.
1996;
93(16):
8590-4.
Barbaux, S. Vilain, E. Raoul, O. Gilgenkrantz, S. Jeandidier, E. Chadenas, D. Souleyreau, N. Fellous, M. McElreavey, K. Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata.
Hum Mol Genet.
1995;
4(9):
1565-8.
Tar, A. Solyom, J. Gyorvari, B. Ion, A. Telvi, L. Barbaux, S. Souleyreau, N. Vilain, E. Fellous, M. McElreavey, K. Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion.
Hum Genet.
1995;
96(4):
464-8.
Desangles, F. Vilain, E. Arborio, M. De Revel, T. Flandrin, G. t(15;17) hypergranular acute promyelocytic leukemia (M3) developing into a t(3;6) M3 without t(15;17) at relapse.
Leuk Lymphoma.
1995;
19(1-2):
185-8.
Boucekkine, C. Toublanc, J. E. Abbas, N. Chaabouni, S. Ouahid, S. Semrouni, M. Jaubert, F. Toublanc, M. McElreavey, K. Vilain, E. et al., Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences.
Clin Endocrinol (Oxf).
1994;
40(6):
733-42.
Pierga, J. Y. Giacchetti, S. Vilain, E. Extra, J. M. Brice, P. Espie, M. Maragi, J. A. Fellous, M. Marty, M. Dysgerminoma in a pure 45,X Turner syndrome: report of a case and review of the literature.
Gynecol Oncol.
1994;
55(3 Pt 1):
459-64.
Vilain, E. Le Fiblec, B. Morichon-Delvallez, N. Brauner, R. Dommergues, M. Dumez, Y. Jaubert, F. Boucekkine, C. McElreavey, K. Vekemans, M. et al., SRY-negative XX fetus with complete male phenotype.
Lancet.
1994;
343(8891):
240-1.
Vilain, E. Bompard, Y. Clement, K. Laplanche, S. de Kermadec, S. Aufrant, C. [Brief antiseptic application of iodine in neonatal intensive care units: effects on thyroid function].
Arch Pediatr.
1994;
1(9):
795-800.
Boucekkine, C. Vilain, E. McElreavey, K. Jaubert, F. Brauner, R. Thibaud, E. Battin, J. Toublanc, J. E. Kucheria, K. Chaabouni, S. et al., [Study of sex determination gene (SRY) in 46,XY gonadal dysgenesis].
Ann Endocrinol (Paris).
1994;
54(5):
315-21.
McElreavey, K. Vilain, E. Abbas, N. Herskowitz, I. Fellous, M. A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development.
Proc Natl Acad Sci U S A.
1993;
90(8):
3368-72.
McElreavey, K. Vilain, E. Cotinot, C. Payen, E. Fellous, M. Control of sex determination in animals.
Eur J Biochem.
1993;
218(3):
769-83.
Abbas, N. McElreavey, K. Leconiat, M. Vilain, E. Jaubert, F. Berger, R. Nihoul-Fekete, C. Rappaport, R. Fellous, M. Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome.
C R Acad Sci III.
1993;
316(4):
375-83.
Toublanc, J. E. Boucekkine, C. Abbas, N. Barama, D. Vilain, E. McElreavey, K. Toublanc, M. Fellous, M. Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation.
Eur J Pediatr.
1993;
152 Suppl 2:
S70-5.
Vilain, E. Jaubert, F. Fellous, M. McElreavey, K. Pathology of 46,XY pure gonadal dysgenesis: absence of testis differentiation associated with mutations in the testis-determining factor.
Differentiation.
1993;
52(2):
151-9.
McElreavey, K. Rappaport, R. Vilain, E. Abbas, N. Richaud, F. Lortat-Jacob, S. Berger, R. Le Coniat, M. Boucekkine, C. Kucheria, K. et al., A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY.
Hum Genet.
1992;
90(1-2):
121-5.
Vilain, E. McElreavey, K. Jaubert, F. Raymond, J. P. Richaud, F. Fellous, M. Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.
Am J Hum Genet.
1992;
50(5):
1008-11.
Boucekkine, C. Toublanc, J. E. Abbas, N. Semrouni, M. Vilain, E. McElreavey, K. Mugneret, F. Fellous, M. The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability.
Horm Res.
1992;
37(6):
236-40.
McElreavy, K. Vilain, E. Abbas, N. Costa, J. M. Souleyreau, N. Kucheria, K. Boucekkine, C. Thibaud, E. Brauner, R. Flamant, F. et al., XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.
Proc Natl Acad Sci U S A.
1992;
89(22):
11016-20.
McElreavey, K. D. Vilain, E. Boucekkine, C. Vidaud, M. Jaubert, F. Richaud, F. Fellous, M. XY sex reversal associated with a nonsense mutation in SRY.
Genomics.
1992;
13(3):
838-40.
Vilain, E. McElreavey, K. Richaud, F. Fellous, M. [Isolation of the sex-determining gene in men].
Pathol Biol (Paris).
1992;
40(1):
15-7.
Vilain, E. McElreavey, K. M. Richaud, F. Fellous, M. [Sex genetics].
Presse Med.
1992;
21(18):
852-6.
Vilain, E. McElreavey, K. Vidaud, M. Richaud, F. Fellous, M. [The analysis of SRY doesn't explain all the pathology of sex determination].
Ann Endocrinol (Paris).
1991;
52(6):
435-6.
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Sex determination orients development toward sexually dimorphic individuals, male or female. In mammals, male sex determination is triggered by a primary signal, encoded by the testis determining factor SRY, localized on the Y chromosome. Subsequently, a complex network of genes, most of them still unknown, is regulated and leads to male sexual differentiation. I have discovered new molecular and cellular mechanisms of sex determination during fetal development. In particular, I have provided strong evidence supporting SRY as the testis determining gene, and identified regulatory mechanisms of transcription of DAX1, another sex determining gene. A new concept is now emerging: normal sexual development may result from the functional and developmental integration of a number of different genes that play roles at all levels of sex determination, sexual differentiation and possibly in sexual behavior.
My laboratory is exploring the genetics of development of the reproductive axis (hypothalamus-pituitary-gonads). Two complementary approaches are used: the analysis of patients with disorders of sexual development and the study of animal and cellular models. Specifically, we are searching for mutations in genes that are candidates for a role in developmental pathologies of the reproductive axis. We are also in the process of identifying differentially expressed genes at various times during embryonic development of the hypothalamus, pituitary, and gonads in the rat. In addition, we are searching for genes involved in the chemotactic system responsible for the migration of hypothalamic cells towards the pituitary. Finally, we are testing the hypothesis that there may be genetic influences on behavioral differences between males and females, in addition to the direct influence of sex steroids.
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