Genetic insights into non-syndromic Tetralogy of Fallot

Autor: Nouf J. Althali, Kathryn E. Hentges

Publikováno v: Frontiers in Physiology, Vol 13 (2022)

Congenital heart defects (CHD) include structural abnormalities of the heart or/and great vessels that are present at birth. CHD affects around 1% of all newborns worldwide. Tetralogy of Fallot (TOF) is the most prevalent cyanotic congenital cardiac

Externí odkaz: https://doaj.org/article/7c13e7e13daa4f9ab66a9b6e8c06d590

Reproducibility of CRISPR-Cas9 methods for generation of conditional mouse alleles: a multi-center evaluation

Autor: Channabasavaiah B. Gurumurthy, Aidan R. O’Brien, Rolen M. Quadros, John Adams, Pilar Alcaide, Shinya Ayabe, Johnathan Ballard, Surinder K. Batra, Marie-Claude Beauchamp, Kathleen A. Becker, Guillaume Bernas, David Brough, Francisco Carrillo-Salinas, Wesley Chan, Hanying Chen, Ruby Dawson, Victoria DeMambro, Jinke D’Hont, Katharine M. Dibb, James D. Eudy, Lin Gan, Jing Gao, Amy Gonzales, Anyonya R. Guntur, Huiping Guo, Donald W. Harms, Anne Harrington, Kathryn E. Hentges, Neil Humphreys, Shiho Imai, Hideshi Ishii, Mizuho Iwama, Eric Jonasch, Michelle Karolak, Bernard Keavney, Nay-Chi Khin, Masamitsu Konno, Yuko Kotani, Yayoi Kunihiro, Imayavaramban Lakshmanan, Catherine Larochelle, Catherine B. Lawrence, Lin Li, Volkhard Lindner, Xian-De Liu, Gloria Lopez-Castejon, Andrew Loudon, Jenna Lowe, Loydie A. Jerome-Majewska, Taiji Matsusaka, Hiromi Miura, Yoshiki Miyasaka, Benjamin Morpurgo, Katherine Motyl, Yo-ichi Nabeshima, Koji Nakade, Toshiaki Nakashiba, Kenichi Nakashima, Yuichi Obata, Sanae Ogiwara, Mariette Ouellet, Leif Oxburgh, Sandra Piltz, Ilka Pinz, Moorthy P. Ponnusamy, David Ray, Ronald J. Redder, Clifford J. Rosen, Nikki Ross, Mark T. Ruhe, Larisa Ryzhova, Ane M. Salvador, Sabrina Shameen Alam, Radislav Sedlacek, Karan Sharma, Chad Smith, Katrien Staes, Lora Starrs, Fumihiro Sugiyama, Satoru Takahashi, Tomohiro Tanaka, Andrew W. Trafford, Yoshihiro Uno, Leen Vanhoutte, Frederique Vanrockeghem, Brandon J. Willis, Christian S. Wright, Yuko Yamauchi, Xin Yi, Kazuto Yoshimi, Xuesong Zhang, Yu Zhang, Masato Ohtsuka, Satyabrata Das, Daniel J. Garry, Tino Hochepied, Paul Thomas, Jan Parker-Thornburg, Antony D. Adamson, Atsushi Yoshiki, Jean-Francois Schmouth, Andrei Golovko, William R. Thompson, K. C. Kent Lloyd, Joshua A. Wood, Mitra Cowan, Tomoji Mashimo, Seiya Mizuno, Hao Zhu, Petr Kasparek, Lucy Liaw, Joseph M. Miano, Gaetan Burgio

Publikováno v: Genome Biology, Vol 20, Iss 1, Pp 1-14 (2019)

Abstract Background CRISPR-Cas9 gene-editing technology has facilitated the generation of knockout mice, providing an alternative to cumbersome and time-consuming traditional embryonic stem cell-based methods. An earlier study reported up to 16% effi

Externí odkaz: https://doaj.org/article/d080d0cd1924426bb1475dd31116c836

Identifying mouse developmental essential genes using machine learning

Autor: David Tian, Stephanie Wenlock, Mitra Kabir, George Tzotzos, Andrew J. Doig, Kathryn E. Hentges

Publikováno v: Disease Models & Mechanisms, Vol 11, Iss 12 (2018)

The genes that are required for organismal survival are annotated as ‘essential genes’. Identifying all the essential genes of an animal species can reveal critical functions that are needed during the development of the organism. To inform studi

Externí odkaz: https://doaj.org/article/9d2b781b5b6349da9d6c5618ef027fce

Properties of genes essential for mouse development.

Autor: Mitra Kabir, Ana Barradas, George T Tzotzos, Kathryn E Hentges, Andrew J Doig

Publikováno v: PLoS ONE, Vol 12, Iss 5, p e0178273 (2017)

Essential genes are those that are critical for life. In the specific case of the mouse, they are the set of genes whose deletion means that a mouse is unable to survive after birth. As such, they are the key minimal set of genes needed for all the s

Externí odkaz: https://doaj.org/article/338142c138c940b5a0c39f713a8b75e6

EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type

Autor: Huw B. Thomas, Kathryn E. Hentges, Christopher T. Gordon, William G. Newman, Vinod Varghese, Katherine A. Wood, Weronika A. Buczek, Jeanne Amiel, Raymond T. O'Keefe, Tania Attié-Bitach, Veronique Pingault

Publikováno v: Thomas, H, Wood, K, Buczek, W, Gordon, C, Pingault, V, Attie-Bitach, T, Hentges, K, Varghese, V, Amiel, J, Newman, W & O'Keefe, R 2020, ' EFTUD2 missense variants disrupt protein function and splicing in Mandibulofacial Dysostosis Guion-Almeida type ', Human Mutation . https://doi.org/10.1002/humu.24027

Pathogenic variants in the core spliceosome U5 small nuclear ribonucleoprotein gene EFTUD2/SNU114 cause the craniofacial disorder mandibulofacial dysostosis Guion-Almeida type (MFDGA). MFDGA-associated variants in EFTUD2 comprise large deletions enco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fca9715806f435046c44889da58a7f97
https://doi.org/10.1002/humu.24027