Search Results - "Bergen, Jocelyn A."

NR5A1 gene variants repress the ovarian‐specific WNT signaling pathway in 46,XX disorders of sex development patients by Knarston, Ingrid M., Robevska, Gorjana, den Bergen, Jocelyn A, Eggers, Stefanie, Croft, Brittany, Yates, Jason, Hersmus, Remko, Looijenga, Leendert H. J., Cameron, Fergus J., Monhike, Klaus, Ayers, Katie L., Sinclair, Andrew H.

“…Several recent reports have described a missense variant in the gene NR5A1 (c.274C>T; p.Arg92Trp) in a significant number of 46,XX ovotesticular or testicular…”
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Functional characterisation of human recessive DIS3 variants in premature ovarian insufficiency by Kline, Brianna L, Siddall, Nicole A, Wijaya, Fernando, Stuart, Catherine J, Orlando, Luisa, Bakhshalizadeh, Shabnam, Afkhami, Fateme, Bell, Katrina M, Jaillard, Sylvie, Robevska, Gorjana, Bergen, Jocelyn A, Shahbazi, Shirin, Hoof, Ambro, Ayers, Katie L, Hime, Gary R, Sinclair, Andrew H, Tucker, Elena J

“…Premature ovarian insufficiency (POI) is characterised by the loss or complete absence of ovarian activity in women under the age of 40. Clinical presentation…”
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Generation of heterozygous (MCRIi031-A-1) and homozygous (MCRIi031-A-2) SOX9 knockout human iPSC lines by Pachernegg, Svenja, Robevska, Gorjana, G. A. Ferreira, Lucas, van den Bergen, Jocelyn A., Vlahos, Katerina, Howden, Sara E., Sinclair, Andrew H., Ayers, Katie L.

“…The transcription factor SOX9 plays a critical role in several embryonic developmental processes such as gonadogenesis, chrondrogenesis, and cardiac…”
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Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development by Robevska, Gorjana, den Bergen, Jocelyn A., Ohnesorg, Thomas, Eggers, Stefanie, Hanna, Chloe, Hersmus, Remko, Thompson, Elizabeth M., Baxendale, Anne, Verge, Charles F., Lafferty, Antony R., Marzuki, Nanis S., Santosa, Ardy, Listyasari, Nurin A., Riedl, Stefan, Warne, Garry, Looijenga, Leendert, Faradz, Sultana, Ayers, Katie L., Sinclair, Andrew H.

“…Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of disorders of sex development (DSD). Recently, we reported the use of a…”
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Signaling through the TGF beta-activin receptors ALK4/5/7 regulates testis formation and male germ cell development by Miles, Denise C, Wakeling, Stephanie I, Stringer, Jessica M, van den Bergen, Jocelyn A, Wilhelm, Dagmar, Sinclair, Andrew H, Western, Patrick S

“…The developing testis provides an environment that nurtures germ cell development, ultimately ensuring spermatogenesis and fertility. Impacts on this…”
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Male fetal germ cell differentiation involves complex repression of the regulatory network controlling pluripotency by Western, Patrick S, van den Bergen, Jocelyn A, Miles, Denise C, Sinclair, Andrew H

“…Mammalian germ cells are derived from the pluripotent epiblast and share features with pluripotent stem cells, including the expression of key genes that…”
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Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development by Bergen, Jocelyn A., Robevska, Gorjana, Eggers, Stefanie, Riedl, Stefan, Grover, Sonia R., Bergman, Philip B., Kimber, Chris, Jiwane, Ashish, Khan, Sophy, Krausz, Csilla, Raza, Jamal, Atta, Irum, Davis, Susan R., Ono, Makato, Harley, Vincent, Faradz, Sultana M. H., Sinclair, Andrew H., Ayers, Katie L.

“…Background GATA‐binding protein 4 (GATA4) and Friend of GATA 2 protein (FOG2, also known as ZFPM2) form a heterodimer complex that has been shown to influence…”
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Dynamic Regulation of Mitotic Arrest in Fetal Male Germ Cells by Western, Patrick S., Miles, Denise C., van den Bergen, Jocelyn A., Burton, Matt, Sinclair, Andrew H.

“…During fetal mouse development, germ cells enter the developing gonad at embryonic day (E) 10–11. In response to signaling from the male or female gonad, the…”
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Generation of a homozygous (MCRIi031-A-3) WT1 knockout human iPSC line by Pachernegg, Svenja, Robevska, Gorjana, Ferreira, Lucas G.A., van den Bergen, Jocelyn A., Vlahos, Katerina, Howden, Sara E., Sinclair, Andrew H., Ayers, Katie L.

“…The transcription factor WT1 plays a critical role in several embryonic developmental processes such as gonadogenesis, nephrogenesis, and cardiac development…”
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Generation of heterozygous (MCRIi030-A-1) and homozygous (MCRIi030-A-2) NR2F2/COUP-TFII knockout human iPSC lines by Ferreira, Lucas G.A., Cabral-da-Silva, Mauricio C., Pachernegg, Svenja, van den Bergen, Jocelyn A., Robevska, Gorjana, Vlahos, Katerina, Howden, Sara E., Ng, Elizabeth S., Dias-da-Silva, Magnus R., Sinclair, Andrew H., Ayers, Katie L.

“…The NR2F2 gene encodes the transcription factor COUP-TFII, which is upregulated in embryonic mesoderm. Heterozygous variants in NR2F2 cause a spectrum of…”
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Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort by Eggers, Stefanie, Sadedin, Simon, van den Bergen, Jocelyn A, Robevska, Gorjana, Ohnesorg, Thomas, Hewitt, Jacqueline, Lambeth, Luke, Bouty, Aurore, Knarston, Ingrid M, Tan, Tiong Yang, Cameron, Fergus, Werther, George, Hutson, John, O'Connell, Michele, Grover, Sonia R, Heloury, Yves, Zacharin, Margaret, Bergman, Philip, Kimber, Chris, Brown, Justin, Webb, Nathalie, Hunter, Matthew F, Srinivasan, Shubha, Titmuss, Angela, Verge, Charles F, Mowat, David, Smith, Grahame, Smith, Janine, Ewans, Lisa, Shalhoub, Carolyn, Crock, Patricia, Cowell, Chris, Leong, Gary M, Ono, Makato, Lafferty, Antony R, Huynh, Tony, Visser, Uma, Choong, Catherine S, McKenzie, Fiona, Pachter, Nicholas, Thompson, Elizabeth M, Couper, Jennifer, Baxendale, Anne, Gecz, Jozef, Wheeler, Benjamin J, Jefferies, Craig, MacKenzie, Karen, Hofman, Paul, Carter, Philippa, King, Richard I, Krausz, Csilla, van Ravenswaaij-Arts, Conny M A, Looijenga, Leendert, Drop, Sten, Riedl, Stefan, Cools, Martine, Dawson, Angelika, Juniarto, Achmad Zulfa, Khadilkar, Vaman, Khadilkar, Anuradha, Bhatia, Vijayalakshmi, Dũng, Vũ Chí, Atta, Irum, Raza, Jamal, Thi Diem Chi, Nguyen, Hao, Tran Kiem, Harley, Vincent, Koopman, Peter, Warne, Garry, Faradz, Sultana, Oshlack, Alicia, Ayers, Katie L, Sinclair, Andrew H

“…Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often…”
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Mitotic arrest in teratoma susceptible fetal male germ cells by Western, Patrick S, Ralli, Rachael A, Wakeling, Stephanie I, Lo, Camden, van den Bergen, Jocelyn A, Miles, Denise C, Sinclair, Andrew H

“…Formation of germ cell derived teratomas occurs in mice of the 129/SvJ strain, but not in C57Bl/6 inbred or CD1 outbred mice. Despite this, there have been few…”
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Rhox Homeobox Gene Family Shows Sexually Dimorphic and Dynamic Expression During Mouse Embryonic Gonad Development by Daggag, Hinda, Svingen, Terje, Western, Patrick S, Bergen, Jocelyn A. van den, McClive, Peter J, Harley, Vincent R, Koopman, Peter, Sinclair, Andrew H

“…Reproductive capacity is fundamental to the survival of all species. Consequently, much research has been undertaken to better understand gametogenesis and the…”
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Regulation of the female mouse germ cell cycle during entry into meiosis by Miles, Denise C., van den Bergen, Jocelyn A., Sinclair, Andrew H., Western, Patrick

“…During mouse embryonic development germ cells proliferate extensively until they commit to the male or female pathway and arrest in mitosis or meiosis…”
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Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys by Ayers, Katie L, Bouty, Aurore, Robevska, Gorjana, van den Bergen, Jocelyn A, Juniarto, Achmad Zulfa, Listyasari, Nurin Aisyiyah, Sinclair, Andrew H, Faradz, Sultana M H

“…Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In…”
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Normalizing Gene Expression Levels in Mouse Fetal Germ Cells by van den Bergen, Jocelyn A, Miles, Denise C, Sinclair, Andrew H, Western, Patrick S

“…Real-time PCR has become a popular method to analyze transcription of genes that are developmentally regulated during organogenesis of the testes and ovaries…”
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Cover Image, Volume 40, Issue 2 by Knarston, Ingrid M., Robevska, Gorjana, den Bergen, Jocelyn A, Eggers, Stefanie, Croft, Brittany, Yates, Jason, Hersmus, Remko, Looijenga, Leendert H. J., Cameron, Fergus J., Monhike, Klaus, Ayers, Katie L., Sinclair, Andrew H.

“…On the Front Cover: This cover image is based on the Research Article NR5A1 gene variants repress the ovarian‐specific WNT signaling pathway in 46,XX disorders…”
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The proto-oncogene Ret is required for male foetal germ cell survival by Miles, Denise C., van den Bergen, Jocelyn A., Wakeling, Stephanie I., Anderson, Richard B., Sinclair, Andrew H., Western, Patrick S.

“…The spermatogenic and oogenic lineages originate from bipotential primordial germ cells in response to signalling in the foetal testis or ovary, respectively…”
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The Rhox Homeobox Gene Family Shows Sexually Dimorphic and Dynamic Expression During Mouse Embryonic Gonad Development1 by Daggag, Hinda, Svingen, Terje, Western, Patrick S, van den Bergen, Jocelyn A, McClive, Peter J, Harley, Vincent R, Koopman, Peter, Sinclair, Andrew H

“…Reproductive capacity is fundamental to the survival of all species. Consequently, much research has been undertaken to better understand gametogenesis and the…”
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A novel, homozygous mutation in desert hedgehog ( DHH ) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report by Rothacker, Karen M, Ayers, Katie L, Tang, Dave, Joshi, Kiranjit, van den Bergen, Jocelyn A, Robevska, Gorjana, Samnakay, Naeem, Nagarajan, Lakshmi, Francis, Kate, Sinclair, Andrew H, Choong, Catherine S

“…( ) mutations have been described in only a limited number of individuals with 46, XY disorders of sex development (DSD) presenting as either partial or…”
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