Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Katie L Ayers"'
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-8 (2024)
Abstract Background 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 and impaired intellectual development. Individuals with variants in CU
Externí odkaz:
https://doaj.org/article/e47dd1d1f921446f86e954b19279e913
Autor:
Svenja Pachernegg, Gorjana Robevska, Lucas G.A. Ferreira, Jocelyn A. van den Bergen, Katerina Vlahos, Sara E. Howden, Andrew H. Sinclair, Katie L. Ayers
Publikováno v:
Stem Cell Research, Vol 79, Iss , Pp 103494- (2024)
The transcription factor WT1 plays a critical role in several embryonic developmental processes such as gonadogenesis, nephrogenesis, and cardiac development. We generated a homozygous (MCRIi031-A-3) WT1 knockout induced pluripotent stem cell (iPSC)
Externí odkaz:
https://doaj.org/article/b8430cdb26a34b0fa942cd449540a5ca
Autor:
Svenja Pachernegg, Gorjana Robevska, Lucas G. A. Ferreira, Jocelyn A. van den Bergen, Katerina Vlahos, Sara E. Howden, Andrew H. Sinclair, Katie L. Ayers
Publikováno v:
Stem Cell Research, Vol 79, Iss , Pp 103484- (2024)
The transcription factor SOX9 plays a critical role in several embryonic developmental processes such as gonadogenesis, chrondrogenesis, and cardiac development. We generated heterozygous (MCRIi031-A-1) and homozygous (MCRIi031-A-2) SOX9 knockout ind
Externí odkaz:
https://doaj.org/article/80ae33e8a0664803a7d9924d809260d4
Autor:
Lucas G. A. Ferreira, Marina M. L. Kizys, Gabriel A. C. Gama, Svenja Pachernegg, Gorjana Robevska, Andrew H. Sinclair, Katie L. Ayers, Magnus R. Dias-da-Silva
Publikováno v:
Cell & Bioscience, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract Background The absence of expression of the Y-chromosome linked testis-determining gene SRY in early supporting gonadal cells (ESGC) leads bipotential gonads into ovarian development. However, genetic variants in NR2F2, encoding three isofor
Externí odkaz:
https://doaj.org/article/c1874add806c4eb8801493ca299c9ba6
Autor:
Lucas G.A. Ferreira, Mauricio C. Cabral-da-Silva, Svenja Pachernegg, Jocelyn A. van den Bergen, Gorjana Robevska, Katerina Vlahos, Sara E. Howden, Elizabeth S. Ng, Magnus R. Dias-da-Silva, Andrew H. Sinclair, Katie L. Ayers
Publikováno v:
Stem Cell Research, Vol 76, Iss , Pp 103374- (2024)
The NR2F2 gene encodes the transcription factor COUP-TFII, which is upregulated in embryonic mesoderm. Heterozygous variants in NR2F2 cause a spectrum of congenital anomalies including cardiac and gonadal phenotypes. We generated heterozygous (MCRIi0
Externí odkaz:
https://doaj.org/article/65e6a720007544a2b2c11b5ef8415623
Autor:
Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Abstract Squamous cell carcinoma antigen recognized by T cells 3 (SART3) is an RNA-binding protein with numerous biological functions including recycling small nuclear RNAs to the spliceosome. Here, we identify recessive variants in SART3 in nine ind
Externí odkaz:
https://doaj.org/article/490c3c6f5efa46c79fc60769df8db9e9
Autor:
Nurin A. Listyasari, Gorjana Robevska, Katie L. Ayers, Tiong Yang Tan, Andrew H. Sinclair, Sultana M.H. Faradz
Publikováno v:
Asian Journal of Urology, Vol 9, Iss 2, Pp 186-189 (2022)
Externí odkaz:
https://doaj.org/article/924f32afcb1d4dd19706b71eb743ce58
Autor:
Akram Zamani, Adam K. Walker, Ben Rollo, Katie L. Ayers, Raysha Farah, Terence J. O’Brien, David K. Wright
Publikováno v:
Translational Neurodegeneration, Vol 11, Iss 1, Pp 1-11 (2022)
Abstract Background Multiple lines of evidence suggest possible impairment of the glymphatic system in amyotrophic lateral sclerosis (ALS). To investigate this, we used in vivo magnetic resonance imaging (MRI) to assess glymphatic function early in t
Externí odkaz:
https://doaj.org/article/72df01f2f3c644b5aedce4b1ed879bf4
Autor:
Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/4d17ed3fcc1b46bc9b7e947038dedff7
Autor:
Nurin A. Listyasari, Gorjana Robevska, Ardy Santosa, Aurore Bouty, AZ Juniarto, Jocelyn van den Bergen, Katie L. Ayers, Andrew H. Sinclair, Sultana MH Faradz
Publikováno v:
Journal of Investigative Surgery, Vol 34, Iss 2, Pp 227-233 (2021)
Background: Complete androgen insensitivity syndrome (CAIS) is a congenital condition caused by genetic defects in the androgen receptor (AR) gene located on the X chromosome, which lead to a phenotypical female individual with a 46, XY karyotype. Ea
Externí odkaz:
https://doaj.org/article/6076a04d70d54fac8b0a398b64ffc3a8