Search Results - "Ayers, Katie L."

The Genetic and Environmental Factors Underlying Hypospadias by Bouty, Aurore, Ayers, Katie L, Pask, Andrew, Heloury, Yves, Sinclair, Andrew H

“…Hypospadias results from a failure of urethral closure in the male phallus and affects 1 in 200-300 boys. It is thought to be due to a combination of genetic…”
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Sex Reversal and Comparative Data Undermine the W Chromosome and Support Z-linked DMRT1 as the Regulator of Gonadal Sex Differentiation in Birds by Hirst, Claire E, Major, Andrew T, Ayers, Katie L, Brown, Rosie J, Mariette, Mylene, Sackton, Timothy B, Smith, Craig A

“…The exact genetic mechanism regulating avian gonadal sex differentiation has not been completely resolved. The most likely scenario involves a dosage…”
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Consider CUX1 variants in children with a variation of sex development: a case report and review of the literature by Tan, Lynn, Young, Shelley G, Sinclair, Andrew H, Hunter, Matthew F, Ayers, Katie L

“…The Cut Homeobox 1 (CUX1) gene has been implicated in a number of developmental processes and has recently emerged as an important cause of developmental delay…”
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RNA sequencing reveals sexually dimorphic gene expression before gonadal differentiation in chicken and allows comprehensive annotation of the W-chromosome by Ayers, Katie L, Davidson, Nadia M, Demiyah, Diana, Roeszler, Kelly N, Grützner, Frank, Sinclair, Andrew H, Oshlack, Alicia, Smith, Craig A

“…Birds have a ZZ male: ZW female sex chromosome system and while the Z-linked DMRT1 gene is necessary for testis development, the exact mechanism of sex…”
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Impaired glymphatic function in the early stages of disease in a TDP-43 mouse model of amyotrophic lateral sclerosis by Zamani, Akram, Walker, Adam K, Rollo, Ben, Ayers, Katie L, Farah, Raysha, O'Brien, Terence J, Wright, David K

“…Multiple lines of evidence suggest possible impairment of the glymphatic system in amyotrophic lateral sclerosis (ALS). To investigate this, we used in vivo…”
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Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency by Bakhshalizadeh, Shabnam, Hock, Daniella H., Siddall, Nicole A., Kline, Brianna L., Sreenivasan, Rajini, Bell, Katrina M., Casagranda, Franca, Kamalanathan, Sadishkumar, Sahoo, Jayaprakash, Narayanan, Niya, Naik, Dukhabandhu, Suryadevara, Varun, Compton, Alison G., Amarasekera, Sumudu S. C., Kapoor, Ridam, Jaillard, Sylvie, Simpson, Andrea, Robevska, Gorjana, van den Bergen, Jocelyn, Pachernegg, Svenja, Ayers, Katie L., Thorburn, David R., Stroud, David A., Hime, Gary R., Sinclair, Andrew H., Tucker, Elena J.

“…Premature ovarian insufficiency (POI) is a common cause of infertility in women, characterised by amenorrhea and elevated FSH under the age of 40 years. In…”
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The Long-Range Activity of Hedgehog Is Regulated in the Apical Extracellular Space by the Glypican Dally and the Hydrolase Notum by Ayers, Katie L., Gallet, Armel, Staccini-Lavenant, Laurence, Thérond, Pascal P.

“…Cell fate determination during developmental patterning is often controlled by concentration gradients of morphogens. In the epithelial field, morphogens like…”
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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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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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An In Vitro Differentiation Protocol for Human Embryonic Bipotential Gonad and Testis Cell Development by Knarston, Ingrid M., Pachernegg, Svenja, Robevska, Gorjana, Ghobrial, Irene, Er, Pei Xuan, Georges, Elizabeth, Takasato, Minoru, Combes, Alexander N., Jørgensen, Anne, Little, Melissa H., Sinclair, Andrew H., Ayers, Katie L.

“…Currently an in vitro model that fully recapitulates the human embryonic gonad is lacking. Here we describe a fully defined feeder-free protocol to generate…”
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Overexpression of Anti-Müllerian Hormone Disrupts Gonadal Sex Differentiation, Blocks Sex Hormone Synthesis, and Supports Cell Autonomous Sex Development in the Chicken by Lambeth, Luke S, Morris, Kirsten, Ayers, Katie L, Wise, Terry G, O'Neil, Terri, Wilson, Susanne, Cao, Yu, Sinclair, Andrew H, Cutting, Andrew D, Doran, Timothy J, Smith, Craig A

“…The primary role of Anti-Müllerian hormone (AMH) during mammalian development is the regression of Müllerian ducts in males. This highly conserved function is…”
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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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The molecular genetics of avian sex determination and its manipulation by Ayers, Katie L., Smith, Craig A., Lambeth, Luke S.

“…The chicken (Gallus gallus domesticus) has long been a useful model for developmental biologists. The developing avian embryo is easily accessible and fertile…”
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COUP-TFII regulates early bipotential gonad signaling and commitment to ovarian progenitors by Ferreira, Lucas G A, Kizys, Marina M L, Gama, Gabriel A C, Pachernegg, Svenja, Robevska, Gorjana, Sinclair, Andrew H, Ayers, Katie L, Dias-da-Silva, Magnus R

“…The absence of expression of the Y-chromosome linked testis-determining gene SRY in early supporting gonadal cells (ESGC) leads bipotential gonads into ovarian…”
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Early and progressive dysfunction revealed by in vivo neurite imaging in the rNLS8 TDP-43 mouse model of ALS by Zamani, Akram, Walker, Adam K., Rollo, Ben, Ayers, Katie L., Farah, Raysha, O'Brien, Terence J., Wright, David K.

“…•Are neurite density and dispersion altered in amyotropic lateral sclerosis (ALS)?•Both measures are affected in the rNLS8 TDP-43 mouse model of ALS.•Diffusion…”
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Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia by Listyasari, Nurin A., Robevska, Gorjana, Santosa, Ardy, Bouty, Aurore, Juniarto, AZ, van den Bergen, Jocelyn, Ayers, Katie L., Sinclair, Andrew H., Faradz, Sultana MH

“…Background: Complete androgen insensitivity syndrome (CAIS) is a congenital condition caused by genetic defects in the androgen receptor (AR) gene located on…”
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Analysis of the androgen receptor gene in a cohort of Indonesian undermasculinized 46, XY DSD patients by Listyasari, Nurin Aisyiyah, Juniarto, Achmad Zulfa, Robevska, Gorjana, Ayers, Katie L, Sinclair, Andrew H, Faradz, Sultana M. H

“…Background Pathogenic variants in the androgen receptor (AR) gene located on chromosome Xq11-12, are known to cause varying degrees of undermasculinization in…”
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Clinical lesson learned from genetic analysis in patients prior to surgical repair of hypospadias by Listyasari, Nurin A., Robevska, Gorjana, Ayers, Katie L., Tan, Tiong Yang, Sinclair, Andrew H., Faradz, Sultana M.H.

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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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Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis by Syryn, Hannes, Van de Velde, Julie, De Clercq, Griet, Verdin, Hannah, Dheedene, Annelies, Peelman, Frank, Sinclair, Andrew, Ayers, Katie L, Bathgate, Ross A D, Cools, Martine, De Baere, Elfride

“…Abstract STUDY QUESTION Does RXFP2 disruption impair male fertility? SUMMARY ANSWER We identified biallelic variants in RXFP2 in patients with male infertility…”
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