Disruption of entire Cables2 locus leads to embryonic lethality by diminished Rps21 gene expression and enhanced p53 pathway

Autor: Tra Thi Huong Dinh, Hiroyoshi Iseki, Seiya Mizuno, Saori Iijima-Mizuno, Yoko Tanimoto, Yoko Daitoku, Kanako Kato, Yuko Hamada, Ammar Shaker Hamed Hasan, Hayate Suzuki, Kazuya Murata, Masafumi Muratani, Masatsugu Ema, Jun-Dal Kim, Junji Ishida, Akiyoshi Fukamizu, Mitsuyasu Kato, Satoru Takahashi, Ken-ichi Yagami, Valerie Wilson, Ruth M Arkell, Fumihiro Sugiyama

Publikováno v: eLife, Vol 10 (2021)

In vivo function of CDK5 and Abl enzyme substrate 2 (Cables2), belonging to the Cables protein family, is unknown. Here, we found that targeted disruption of the entire Cables2 locus (Cables2d) caused growth retardation and enhanced apoptosis at the

Externí odkaz: https://doaj.org/article/47b0afb571434225ae530bc466486e2e

Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data

Autor: Greg Pratt, Bastien Llamas, Ruth M. Arkell, Shayne A. Bellingham, Cliff J Meldrum, Ravi Savarirayan, Lynette Russell, Alex Brown, Saul Newman, Carola G. Vinuesa, Hugh Dawkins, Shivashankar H. Nagaraj, Warren Kaplan, John Skinner, Ashley Farlow, Wendy E. Hoy, Simon Easteal, Hardip R. Patel, Graham J. Mann, Tom Calma, Kylie Gwynne, Misty R. Jenkins, Lyndon Ormond-Parker, Marcel E. Dinger, Jack Nunn, Rebekah McWhirter, Boe Rambaldini, Matthew Silcocks, Gareth Baynam, Matthew C. Cook, Michael S. Dobbie, Devashi Paliwal, Simon H Jiang, Stephen Leslie, Brendan J. McMorran, Neil Orr, Azure Hermes, Megan Davis, Yassine Souilmi, Renzo F. Balboa, Glenn Pearson

Publikováno v: Am J Hum Genet

Expanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA variants that cause disease. The composition of pathogenic variants differs greatly among human populations, but historical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b38fea929d04463f457071370eee539
https://doi.org/10.1016/j.ajhg.2020.06.005

Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes.

Autor: Dawn E Watkins-Chow, Joanna Cooke, Ruth Pidsley, Andrew Edwards, Rebecca Slotkin, Karen E Leeds, Raymond Mullen, Laura L Baxter, Thomas G Campbell, Marion C Salzer, Laura Biondini, Gretchen Gibney, Françoise Phan Dinh Tuy, Jamel Chelly, H Douglas Morris, Johannes Riegler, Mark F Lythgoe, Ruth M Arkell, Fabrizio Loreni, Jonathan Flint, William J Pavan, David A Keays

Publikováno v: PLoS Genetics, Vol 11, Iss 11, p e1005682 (2015)

Externí odkaz: https://doaj.org/article/104fd857238b4b8189cbe2fd22c7a629

Disruption of entire Cables2 locus leads to embryonic lethality by diminished Rps21 gene expression and enhanced p53 pathway

Autor: Junji Ishida, Satoru Takahashi, Kazuya Murata, Masafumi Muratani, Yoko Daitoku, Yuko Hamada, Hayate Suzuki, Akiyoshi Fukamizu, Tra Thi Huong Dinh, Masatsugu Ema, Ken-ichi Yagami, Hiroyoshi Iseki, Ammar Shaker Hamed Hasan, Kanako Kato, Valerie Wilson, Jun-Dal Kim, Mitsuyasu Kato, Ruth M. Arkell, Seiya Mizuno, Yoko Tanimoto, Saori Iijima-Mizuno, Fumihiro Sugiyama

Publikováno v: eLife, Vol 10 (2021)
Dinh, T T H, Iseki, H, Mizuno, S, Lijima-Mizuno, S, Tanimoto, Y, Daitoku, Y, Kato, K, Hamada, Y, Hasan, A S H, Suzuki, H, Murata, K, Muratani, M, Ema, M, Kim, J-D, Ishida, J, Fukamizu, A, Kato, M, Takahashi, S, Yagami, K, Wilson, V, Arkell, R M & Sugiyama, F 2021, ' Disruption of entire Cables2 locus leads to embryonic lethality by diminished Rps21 gene expression and enhanced p53 pathway ', eLIFE, vol. 10, e50346 . https://doi.org/10.7554/eLife.50346

In vivo function of CDK5 and Abl enzyme substrate 2 (Cables2), belonging to the Cables protein family, is unknown. Here, we found that targeted disruption of the entireCables2locus (Cables2d) caused growth retardation and enhanced apoptosis at the ga

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58aa969e49b4ef64147f91278c75d596
https://elifesciences.org/articles/50346

Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease.

Autor: Georgina Caruana, Peter G Farlie, Adam H Hart, Stefan Bagheri-Fam, Megan J Wallace, Michael S Dobbie, Christopher T Gordon, Kerry A Miller, Belinda Whittle, Helen E Abud, Ruth M Arkell, Timothy J Cole, Vincent R Harley, Ian M Smyth, John F Bertram

Publikováno v: PLoS ONE, Vol 8, Iss 3, p e55429 (2013)

Mice harbouring gene mutations that cause phenotypic abnormalities during organogenesis are invaluable tools for linking gene function to normal development and human disorders. To generate mouse models harbouring novel alleles that are involved in o

Externí odkaz: https://doaj.org/article/4ef49950460e4f1d88f053a4f9e96464