Mattiske T - Search Results

1

Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor.

Mattiske T, Tan MH, Dearsley O, Cloosterman D, Hii CS, Gécz J, Shoubridge C. Mattiske T, et al. PLoS One. 2018 Nov 12;13(11):e0206914. doi: 10.1371/journal.pone.0206914. eCollection 2018. PLoS One. 2018. PMID: 30419043 Free PMC article.

2

Challenges of "sticky" co-immunoprecipitation: polyalanine tract protein-protein interactions.

Mattiske TR, Tan MH, Gécz J, Shoubridge C. Mattiske TR, et al. Methods Mol Biol. 2013;1017:121-33. doi: 10.1007/978-1-62703-438-8_9. Methods Mol Biol. 2013. PMID: 23719912

3

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation.

Lee K, Mattiske T, Kitamura K, Gecz J, Shoubridge C. Lee K, et al. Among authors: mattiske t. Hum Mol Genet. 2014 Feb 15;23(4):1084-94. doi: 10.1093/hmg/ddt503. Epub 2013 Oct 10. Hum Mol Genet. 2014. PMID: 24122442

4

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.

Marques I, Sá MJ, Soares G, Mota Mdo C, Pinheiro C, Aguiar L, Amado M, Soares C, Calado A, Dias P, Sousa AB, Fortuna AM, Santos R, Howell KB, Ryan MM, Leventer RJ, Sachdev R, Catford R, Friend K, Mattiske TR, Shoubridge C, Jorge P. Marques I, et al. Mol Genet Genomic Med. 2015 May;3(3):203-14. doi: 10.1002/mgg3.133. Epub 2015 Feb 25. Mol Genet Genomic Med. 2015. PMID: 26029707 Free PMC article.

5

Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.

Mattiske T, Lee K, Gecz J, Friocourt G, Shoubridge C. Mattiske T, et al. Hum Mol Genet. 2016 Dec 15;25(24):5433-5443. doi: 10.1093/hmg/ddw360. Hum Mol Genet. 2016. PMID: 27798109

6

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.

Mattiske T, Moey C, Vissers LE, Thorne N, Georgeson P, Bakshi M, Shoubridge C. Mattiske T, et al. Hum Mutat. 2017 May;38(5):548-555. doi: 10.1002/humu.23190. Epub 2017 Feb 15. Hum Mutat. 2017. PMID: 28150386

7

Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy.

Jackson MR, Lee K, Mattiske T, Jaehne EJ, Ozturk E, Baune BT, O'Brien TJ, Jones N, Shoubridge C. Jackson MR, et al. Among authors: mattiske t. Neurobiol Dis. 2017 Sep;105:245-256. doi: 10.1016/j.nbd.2017.05.012. Epub 2017 Jun 8. Neurobiol Dis. 2017. PMID: 28602636

8

Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.

Thai MHN, Gardner A, Redpath L, Mattiske T, Dearsley O, Shaw M, Vulto-van Silfhout AT, Pfundt R, Dixon J, McGaughran J, Pérez-Jurado LA, Gécz J, Shoubridge C. Thai MHN, et al. Among authors: mattiske t. Hum Mutat. 2020 Aug;41(8):1407-1424. doi: 10.1002/humu.24034. Epub 2020 Jun 2. Hum Mutat. 2020. PMID: 32383243

9

Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX).

Loring KE, Mattiske T, Lee K, Zysk A, Jackson MR, Noebels JL, Shoubridge C. Loring KE, et al. Among authors: mattiske t. Neurobiol Dis. 2021 Jun;153:105329. doi: 10.1016/j.nbd.2021.105329. Epub 2021 Mar 10. Neurobiol Dis. 2021. PMID: 33711494 Free article.

10

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Nat Med. 2023 Jan;29(1):180-189. doi: 10.1038/s41591-022-02142-1. Epub 2023 Jan 19. Nat Med. 2023. PMID: 36658419 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

13 results

Search Page