Eric Vilain

Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. (2006)

Lacombe, Arnaud, Lee, Hane, Zahed, Laila, Choucair, Mahmoud, Muller, Jean-Marc, Nelson, Stanley F, ...

Premature ovarian failure (POF) is characterized by elevated gonadotropins and amenorrhea in women aged POF, we established linkage to the long arm of the X chromosome (between Xq21.1 and Xq21.3.3),...

Extreme skewing of X chromosome inactivation in mothers of homosexual men (2006)

Bocklandt, Sven, Horvath, Steve, Vilain, Eric, Hamer, Dean H

Human sexual preference is a sexually dimorphic trait with a substantial genetic component. Linkage of male sexual orientation to markers on the X chromosome has been reported in some families. Here,...

Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal (2004)

Keegan, Catherine E., Vilain, Eric, Mohammed, Mansoor, Lehoczky, Jessica, Dobyns, William B., Archer, Steven M., ...

We present a patient with microcephaly, jejunal atresia, aberrant right tracheobronchial tree, mild left blepharoptosis, and corectopia (irregular pupil), left sectoral iris stromal hypoplasia and...

Wnt4 overexpression disrupts normal testicular vasculature and inhibits testosterone synthesis by repressing steroidogenic factor 1/β-catenin synergy

Jordan, Brian K., Shen, Jennifer H.-C., Olaso, Robert, Ingraham, Holly A., Vilain, Eric

Genetic studies in mice suggest that Wnt4 signaling antagonizes expression of male hormones and effectively blocks male development in the female embryo. We recently identified an XY intersex patient...

Up-Regulation of WNT-4 Signaling and Dosage-Sensitive Sex Reversal in Humans

Jordan, Brian K., Mohammed, Mansoor, Ching, Saunders T., Délot, Emmanuèle, Chen, Xiao-Ning, Dewing, Phoebe, ...

Wnt-4, a member of the Wnt family of locally acting secreted growth factors, is the first signaling molecule shown to influence the sex-determination cascade. In mice, a targeted deletion of Wnt-4...

Primate DAX1, SRY, and SOX9: Evolutionary Stratification of Sex-Determination Pathway

Patel, Megha, Dorman, Karin S., Zhang, Yao-Hua, Huang, Bing-Ling, Arnold, Arthur P., Sinsheimer, Janet S., ...

The molecular evolution of DAX1, SRY, and SOX9, genes involved in mammalian sex determination, was examined in six primate species. DAX1 and SRY have been added to the X and Y chromosomes,...

Delayed testicular aging in pituitary adenylate cyclase-activating peptide (PACAP) null mice

Lacombe, Arnaud, Lelievre, Vincent, Roselli, Charles E., Salameh, Wael, Lue, Yan-he, Lawson, Gregory, ...

Age-related decline in male sex hormones is a direct consequence of testicular aging. These changes in the hormonal complement cause physiological disturbances affecting the quality of life for...

Wnt4 overexpression disrupts normal testicular vasculature and inhibits testosterone synthesis by repressing steroidogenic factor 1/β-catenin synergy

Jordan, Brian K., Shen, Jennifer H.-C., Olaso, Robert, Ingraham, Holly A., Vilain, Eric

Genetic studies in mice suggest that Wnt4 signaling antagonizes expression of male hormones and effectively blocks male development in the female embryo. We recently identified an XY intersex patient...

Up-Regulation of WNT-4 Signaling and Dosage-Sensitive Sex Reversal in Humans

Jordan, Brian K., Mohammed, Mansoor, Ching, Saunders T., Délot, Emmanuèle, Chen, Xiao-Ning, Dewing, Phoebe, ...

Wnt-4, a member of the Wnt family of locally acting secreted growth factors, is the first signaling molecule shown to influence the sex-determination cascade. In mice, a targeted deletion of Wnt-4...

Primate DAX1, SRY, and SOX9: Evolutionary Stratification of Sex-Determination Pathway

Patel, Megha, Dorman, Karin S., Zhang, Yao-Hua, Huang, Bing-Ling, Arnold, Arthur P., Sinsheimer, Janet S., ...

The molecular evolution of DAX1, SRY, and SOX9, genes involved in mammalian sex determination, was examined in six primate species. DAX1 and SRY have been added to the X and Y chromosomes,...

Delayed testicular aging in pituitary adenylate cyclase-activating peptide (PACAP) null mice

Lacombe, Arnaud, Lelievre, Vincent, Roselli, Charles E., Salameh, Wael, Lue, Yan-he, Lawson, Gregory, ...

Age-related decline in male sex hormones is a direct consequence of testicular aging. These changes in the hormonal complement cause physiological disturbances affecting the quality of life for...

The Chromosome 11 Region From Strain 129 Provides Protection From Sex Reversal in XYPOS Mice

Nikolova, Ganka, Sinsheimer, Janet S., Eicher, Eva M., Vilain, Eric

C57BL/6J (B6) mice containing the Mus domesticus poschiavinus Y chromosome, YPOS, develop ovarian tissue, whereas testicular tissue develops in DBA/2J or 129S1/SvImJ (129) mice containing the YPOS...