Hughes T - Search Results

1

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

Barøy T, Pedurupillay CR, Bliksrud YT, Rasmussen M, Holmgren A, Vigeland MD, Hughes T, Brink M, Rodenburg R, Nedregaard B, Strømme P, Frengen E, Misceo D. Barøy T, et al. Among authors: hughes t. Eur J Med Genet. 2016 Jun;59(6-7):342-6. doi: 10.1016/j.ejmg.2016.05.005. Epub 2016 May 13. Eur J Med Genet. 2016. PMID: 27182039

2

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.

Selmer KK, Gilfillan GD, Strømme P, Lyle R, Hughes T, Hjorthaug HS, Brandal K, Nakken S, Misceo D, Egeland T, Munthe LA, Braekken SK, Undlien DE. Selmer KK, et al. Among authors: hughes t. Eur J Hum Genet. 2012 Jan;20(1):58-63. doi: 10.1038/ejhg.2011.126. Epub 2011 Jun 29. Eur J Hum Genet. 2012. PMID: 21712855 Free PMC article.

3

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E. Barøy T, et al. Among authors: hughes t. Hum Mol Genet. 2015 Oct 15;24(20):5845-54. doi: 10.1093/hmg/ddv305. Epub 2015 Jul 28. Hum Mol Genet. 2015. PMID: 26220973

4

Exploring lithium's transcriptional mechanisms of action in bipolar disorder: a multi-step study.

Akkouh IA, Skrede S, Holmgren A, Ersland KM, Hansson L, Bahrami S, Andreassen OA, Steen VM, Djurovic S, Hughes T. Akkouh IA, et al. Among authors: hughes t. Neuropsychopharmacology. 2020 May;45(6):947-955. doi: 10.1038/s41386-019-0556-8. Epub 2019 Oct 25. Neuropsychopharmacology. 2020. PMID: 31652432 Free PMC article.

5

Mapping the expression of an ANK3 isoform associated with bipolar disorder in the human brain.

Holmgren A, Hansson L, Bjerkaas-Kjeldal K, Impellizzeri AAR, Gilfillan GD, Djurovic S, Hughes T. Holmgren A, et al. Among authors: hughes t. Transl Psychiatry. 2022 Jan 28;12(1):45. doi: 10.1038/s41398-022-01784-6. Transl Psychiatry. 2022. PMID: 35091539 Free PMC article.

6

Bipolar patients display stoichiometric imbalance of gene expression in post-mortem brain samples.

Holmgren A, Akkouh I, O'Connell KS, Osete JR, Bjørnstad PM, Djurovic S, Hughes T. Holmgren A, et al. Among authors: hughes t. Mol Psychiatry. 2024 Feb 13. doi: 10.1038/s41380-023-02398-0. Online ahead of print. Mol Psychiatry. 2024. PMID: 38351171

7

Elevated expression of a minor isoform of ANK3 is a risk factor for bipolar disorder.

Hughes T, Sønderby IE, Polushina T, Hansson L, Holmgren A, Athanasiu L, Melbø-Jørgensen C, Hassani S, Hoeffding LK, Herms S, Bergen SE, Karlsson R, Song J, Rietschel M, Nöthen MM, Forstner AJ, Hoffmann P, Hultman CM, Landén M, Cichon S, Werge T, Andreassen OA, Le Hellard S, Djurovic S. Hughes T, et al. Transl Psychiatry. 2018 Oct 8;8(1):210. doi: 10.1038/s41398-018-0175-x. Transl Psychiatry. 2018. PMID: 30297702 Free PMC article.

8

A Loss-of-Function Variant in a Minor Isoform of ANK3 Protects Against Bipolar Disorder and Schizophrenia.

Hughes T, Hansson L, Sønderby IE, Athanasiu L, Zuber V, Tesli M, Song J, Hultman CM, Bergen SE, Landén M, Melle I, Andreassen OA, Djurovic S. Hughes T, et al. Biol Psychiatry. 2016 Aug 15;80(4):323-330. doi: 10.1016/j.biopsych.2015.09.021. Epub 2015 Nov 11. Biol Psychiatry. 2016. PMID: 26682468

9

Limitations and possibilities of low cell number ChIP-seq.

Gilfillan GD, Hughes T, Sheng Y, Hjorthaug HS, Straub T, Gervin K, Harris JR, Undlien DE, Lyle R. Gilfillan GD, et al. Among authors: hughes t. BMC Genomics. 2012 Nov 21;13:645. doi: 10.1186/1471-2164-13-645. BMC Genomics. 2012. PMID: 23171294 Free PMC article.

10

Runaway multi-allelic copy number variation at the α-defensin locus in African and Asian populations.

Hughes T, Hansson L, Akkouh I, Hajdarevic R, Bringsli JS, Torsvik A, Inderhaug E, Steen VM, Djurovic S. Hughes T, et al. Sci Rep. 2020 Jun 4;10(1):9101. doi: 10.1038/s41598-020-65675-w. Sci Rep. 2020. PMID: 32499510 Free PMC article.

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