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Your search keyword '"Hoslin, Angela"' showing total 3 results
Start Over Author "Hoslin, Angela" Publication Type Academic Journals
3 results on '"Hoslin, Angela"'

1. EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

Author

Tan, Shengjiang, Kermasson, Laëtitia, Hoslin, Angela, Jaako, Pekka, Faille, Alexandre, Acevedo-Arozena, Abraham, Lengline, Etienne, Ranta, Dana, Poirée, Maryline, Fenneteau, Odile, Ducou le Pointe, Hubert, Fumagalli, Stefano, Beaupain, Blandine, Nitschké, Patrick, Bôle-Feysot, Christine, de Villartay, Jean-Pierre, Bellanné-Chantelot, Christine, Donadieu, Jean, Kannengiesser, Caroline, Warren, Alan J., and Revy, Patrick

Published
2019
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2. Discovering gene function from development to ageing

Author

Potter, Paul K., Laura, Wisby, Blease, Andrew, Simon, Michelle M., Aguilar, Carlos, Agnew, Thomas, Banks, Gareth, Blake, Andrew, Chessum, Lauren, Dorning, Joanne, Falcone, Sara, Goosey, Laurence, Greenaway, Simon, Harris, Shelley, Haynes, Andrew, Heise, Ines, Hillier, Rosie, Hough, Tertius, Hoslin, Angela, Hutchison, Marie, King, Ruairidh, Kumar, Saumya, Lad, Heena, Law, Gemma, Morse, Susan, Nicol, Thomas, Parker, Andrew, Pickford, Karen, Sethi, Siddharth, Shanthakumar, Prashanthini, Starbuck, Becky, Cheeseman, Michael, Cross, Sally H., Foster, Russell G., Goldsworthy, Michelle E., Jackson, Ian J., Pierson, Stuart N., Thakker, Rajesh V., Vincent, Tonia, Scudamore, Cheryl, Wells, Sara, Acevedo-Arozena, Abraham, Nolan, Patrick M., Cox, Roger, Mallon, Anne-Marie, Bowl, Michael R., and Brown, Steve D.M.

Published
2015
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3. Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.

Author

Potter PK, Bowl MR, Jeyarajan P, Wisby L, Blease A, Goldsworthy ME, Simon MM, Greenaway S, Michel V, Barnard A, Aguilar C, Agnew T, Banks G, Blake A, Chessum L, Dorning J, Falcone S, Goosey L, Harris S, Haynes A, Heise I, Hillier R, Hough T, Hoslin A, Hutchison M, King R, Kumar S, Lad HV, Law G, MacLaren RE, Morse S, Nicol T, Parker A, Pickford K, Sethi S, Starbuck B, Stelma F, Cheeseman M, Cross SH, Foster RG, Jackson IJ, Peirson SN, Thakker RV, Vincent T, Scudamore C, Wells S, El-Amraoui A, Petit C, Acevedo-Arozena A, Nolan PM, Cox R, Mallon AM, and Brown SD

Subjects
Animals, Cochlea metabolism, Disease Models, Animal, Epithelium ultrastructure, Evoked Potentials, Auditory, Brain Stem physiology, Female, Hearing genetics, Male, Mice, Inbred C57BL, Mutation genetics, Pedigree, Phenotype, Aging genetics, Genetic Testing, Mutagenesis genetics
Abstract

Determining the genetic bases of age-related disease remains a major challenge requiring a spectrum of approaches from human and clinical genetics to the utilization of model organism studies. Here we report a large-scale genetic screen in mice employing a phenotype-driven discovery platform to identify mutations resulting in age-related disease, both late-onset and progressive. We have utilized N-ethyl-N-nitrosourea mutagenesis to generate pedigrees of mutagenized mice that were subject to recurrent screens for mutant phenotypes as the mice aged. In total, we identify 105 distinct mutant lines from 157 pedigrees analysed, out of which 27 are late-onset phenotypes across a range of physiological systems. Using whole-genome sequencing we uncover the underlying genes for 44 of these mutant phenotypes, including 12 late-onset phenotypes. These genes reveal a number of novel pathways involved with age-related disease. We illustrate our findings by the recovery and characterization of a novel mouse model of age-related hearing loss.

Published
2016
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