Abbott CM - Search Results

1

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

Bengani H, Grozeva D, Moyon L, Bhatia S, Louros SR, Hope J, Jackson A, Prendergast JG, Owen LJ, Naville M, Rainger J, Grimes G, Halachev M, Murphy LC, Spasic-Boskovic O, van Heyningen V, Kind P, Abbott CM, Osterweil E, Raymond FL, Roest Crollius H, FitzPatrick DR. Bengani H, et al. Among authors: abbott cm. PLoS One. 2021 Aug 13;16(8):e0256181. doi: 10.1371/journal.pone.0256181. eCollection 2021. PLoS One. 2021. PMID: 34388204 Free PMC article.

2

The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse.

Kent J, Lee M, Schedl A, Boyle S, Fantes J, Powell M, Rushmere N, Abbott C, van Heyningen V, Bickmore WA. Kent J, et al. Genomics. 1997 Jun 1;42(2):260-7. doi: 10.1006/geno.1997.4706. Genomics. 1997. PMID: 9192846

3

Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.

Lam WW, Millichap JJ, Soares DC, Chin R, McLellan A, FitzPatrick DR, Elmslie F, Lees MM, Schaefer GB; DDD study; Abbott CM. Lam WW, et al. Among authors: abbott cm. Mol Genet Genomic Med. 2016 Apr 3;4(4):465-74. doi: 10.1002/mgg3.219. eCollection 2016 Jul. Mol Genet Genomic Med. 2016. PMID: 27441201 Free PMC article.

4

Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice.

Davies FC, Hope JE, McLachlan F, Nunez F, Doig J, Bengani H, Smith C, Abbott CM. Davies FC, et al. Among authors: abbott cm. Sci Rep. 2017 Apr 5;7:46019. doi: 10.1038/srep46019. Sci Rep. 2017. PMID: 28378778 Free PMC article.

5

Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function.

Davies FCJ, Hope JE, McLachlan F, Marshall GF, Kaminioti-Dumont L, Qarkaxhija V, Nunez F, Dando O, Smith C, Wood E, MacDonald J, Hardt O, Abbott CM. Davies FCJ, et al. Among authors: abbott cm. Hum Mol Genet. 2020 Jun 27;29(10):1592-1606. doi: 10.1093/hmg/ddaa042. Hum Mol Genet. 2020. PMID: 32160274

6

Translation elongation factor 1A2 is encoded by one of four closely related eef1a genes and is dispensable for survival in zebrafish.

Idigo NJ, Soares DC, Abbott CM. Idigo NJ, et al. Among authors: abbott cm. Biosci Rep. 2020 Jan 31;40(1):BSR20194191. doi: 10.1042/BSR20194191. Biosci Rep. 2020. PMID: 31950975 Free PMC article.

7

Modelling epilepsy in the mouse: challenges and solutions.

Marshall GF, Gonzalez-Sulser A, Abbott CM. Marshall GF, et al. Among authors: abbott cm. Dis Model Mech. 2021 Mar 1;14(3):dmm047449. doi: 10.1242/dmm.047449. Epub 2021 Mar 1. Dis Model Mech. 2021. PMID: 33619078 Free PMC article. Review.

8

Haploinsufficiency for translation elongation factor eEF1A2 in aged mouse muscle and neurons is compatible with normal function.

Griffiths LA, Doig J, Churchhouse AM, Davies FC, Squires CE, Newbery HJ, Abbott CM. Griffiths LA, et al. Among authors: abbott cm. PLoS One. 2012;7(7):e41917. doi: 10.1371/journal.pone.0041917. Epub 2012 Jul 25. PLoS One. 2012. PMID: 22848658 Free PMC article.

9

Characterisation of translation elongation factor eEF1B subunit expression in mammalian cells and tissues and co-localisation with eEF1A2.

Cao Y, Portela M, Janikiewicz J, Doig J, Abbott CM. Cao Y, et al. Among authors: abbott cm. PLoS One. 2014 Dec 1;9(12):e114117. doi: 10.1371/journal.pone.0114117. eCollection 2014. PLoS One. 2014. PMID: 25436608 Free PMC article.

10

Comparative mapping of mouse chromosome 2 and human chromosome 9q: the genes for gelsolin and dopamine beta-hydroxylase map to mouse chromosome 2.

Pilz A, Moseley H, Peters J, Abbott C. Pilz A, et al. Genomics. 1992 Apr;12(4):715-9. doi: 10.1016/0888-7543(92)90300-h. Genomics. 1992. PMID: 1315305

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