Zobrazeno 1 - 10
of 714
pro vyhledávání: '"A H, Sinclair"'
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
Publikováno v:
Cognitive Research, Vol 9, Iss 1, Pp 1-24 (2024)
Abstract Fake news can have enduring effects on memory and beliefs. An ongoing theoretical debate has investigated whether corrections (fact-checks) should include reminders of fake news. The familiarity backfire account proposes that reminders hinde
Externí odkaz:
https://doaj.org/article/a595581a4d824099a9782942d159a751
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:
Tayla Stenta, Michael Assis, Katie Ayers, Elena J. Tucker, Andreas Halman, Debra Gook, Andrew H. Sinclair, David A. Elliott, Yasmin Jayasinghe, Rachel Conyers
Publikováno v:
Clinical and Translational Science, Vol 17, Iss 6, Pp n/a-n/a (2024)
Abstract For the same age, sex, and dosage, there can be significant variation in fertility outcomes in childhood cancer survivors. Genetics may explain this variation. This study aims to: (i) review the genetic contributions to infertility, (ii) sea
Externí odkaz:
https://doaj.org/article/9da17279edc8498091a0ed9babfda7ca
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:
Megan J. Huggett, Jean-Paul A. Hobbs, Federico Vitelli, Michael Stat, Tane H. Sinclair-Taylor, Michael Bunce, Joseph D. DiBattista
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-9 (2023)
Abstract Hybridisation and introgression of eukaryotic genomes can generate new species or subsume existing ones, with direct and indirect consequences for biodiversity. An understudied component of these evolutionary forces is their potentially rapi
Externí odkaz:
https://doaj.org/article/d526a77dca394dc4b4ac2d36cff7e706
Autor:
Samuel A. Matthews, David H. Williamson, Roger Beeden, Michael J. Emslie, Rickard T. M. Abom, Daniel Beard, Mary Bonin, Peran Bray, Adriana R. Campili, Daniela M. Ceccarelli, Leanne Fernandes, Cameron S. Fletcher, Dan Godoy, Christopher R. Hemingson, Michelle J. Jonker, Bethan J. Lang, Sheriden Morris, Enrique Mosquera, Gareth L. Phillips, Tane H. Sinclair-Taylor, Sascha Taylor, Dieter Tracey, Jennifer C. Wilmes, Richard Quincey
Publikováno v:
PLoS ONE, Vol 19, Iss 4 (2024)
Externí odkaz:
https://doaj.org/article/61dfa4fe554042faafd8aa75067c4789