Dreumont N - Search Results

1

Presence of three mutations in the fumarylacetoacetate hydrolase gene in a patient with atypical symptoms of hereditary tyrosinemia type I.

Morrow G, Dreumont N, Bourrelle-Langlois M, Roy V, Tanguay RM. Morrow G, et al. Among authors: dreumont n. Mol Genet Metab. 2019 May;127(1):58-63. doi: 10.1016/j.ymgme.2019.01.019. Epub 2019 Feb 7. Mol Genet Metab. 2019. PMID: 30954369

2

Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase.

Dreumont N, Maresca A, Khandjian EW, Baklouti F, Tanguay RM. Dreumont N, et al. Biochem Biophys Res Commun. 2004 Nov 5;324(1):186-92. doi: 10.1016/j.bbrc.2004.09.041. Biochem Biophys Res Commun. 2004. PMID: 15465000

3

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

Dreumont N, Poudrier JA, Bergeron A, Levy HL, Baklouti F, Tanguay RM. Dreumont N, et al. BMC Genet. 2001;2:9. doi: 10.1186/1471-2156-2-9. Epub 2001 Jun 29. BMC Genet. 2001. PMID: 11476670 Free PMC article.

4

A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay.

Dreumont N, Maresca A, Boisclair-Lachance JF, Bergeron A, Tanguay RM. Dreumont N, et al. BMC Mol Biol. 2005 Jan 7;6:1. doi: 10.1186/1471-2199-6-1. BMC Mol Biol. 2005. PMID: 15638932 Free PMC article.

5

Multiple cis elements regulate an alternative splicing event at 4.1R pre-mRNA during erythroid differentiation.

Deguillien M, Huang SC, Morinière M, Dreumont N, Benz EJ Jr, Baklouti F. Deguillien M, et al. Among authors: dreumont n. Blood. 2001 Dec 15;98(13):3809-16. doi: 10.1182/blood.v98.13.3809. Blood. 2001. PMID: 11739190 Free article.

6

Rapid screening of yeast mutants with reporters identifies new splicing phenotypes.

Dreumont N, Séraphin B. Dreumont N, et al. FEBS J. 2013 Jun;280(11):2712-26. doi: 10.1111/febs.12277. Epub 2013 May 9. FEBS J. 2013. PMID: 23560879 Free article.

7

SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders.

Ghemrawi R, Arnold C, Battaglia-Hsu SF, Pourié G, Trinh I, Bassila C, Rashka C, Wiedemann A, Flayac J, Robert A, Dreumont N, Feillet F, Guéant JL, Coelho D. Ghemrawi R, et al. Among authors: dreumont n. Metabolism. 2019 Dec;101:153992. doi: 10.1016/j.metabol.2019.153992. Epub 2019 Oct 28. Metabolism. 2019. PMID: 31672445

8

Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing.

Rashka C, Hergalant S, Dreumont N, Oussalah A, Camadro JM, Marchand V, Hassan Z, Baumgartner MR, Rosenblatt DS, Feillet F, Guéant JL, Flayac J, Coelho D. Rashka C, et al. Among authors: dreumont n. Hum Mol Genet. 2020 Jul 29;29(12):1969-1985. doi: 10.1093/hmg/ddaa027. Hum Mol Genet. 2020. PMID: 32068834 Free article.

9

Antagonistic factors control the unproductive splicing of SC35 terminal intron.

Dreumont N, Hardy S, Behm-Ansmant I, Kister L, Branlant C, Stévenin J, Bourgeois CF. Dreumont N, et al. Nucleic Acids Res. 2010 Mar;38(4):1353-66. doi: 10.1093/nar/gkp1086. Epub 2009 Dec 3. Nucleic Acids Res. 2010. PMID: 19965769 Free PMC article.

10

The germ cell nuclear proteins hnRNP G-T and RBMY activate a testis-specific exon.

Liu Y, Bourgeois CF, Pang S, Kudla M, Dreumont N, Kister L, Sun YH, Stevenin J, Elliott DJ. Liu Y, et al. Among authors: dreumont n. PLoS Genet. 2009 Nov;5(11):e1000707. doi: 10.1371/journal.pgen.1000707. Epub 2009 Nov 6. PLoS Genet. 2009. PMID: 19893608 Free PMC article.

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