Shoubridge C - Search Results

1

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. Among authors: shoubridge c. Hum Mutat. 2017 May;38(5):548-555. doi: 10.1002/humu.23190. Epub 2017 Feb 15. Hum Mutat. 2017. PMID: 28150386

2

McKenzie O, Ponte I, Mangelsdorf M, Finnis M, Colasante G, Shoubridge C, Stifani S, Gécz J, Broccoli V. McKenzie O, et al. Among authors: shoubridge c. Neuroscience. 2007 Apr 25;146(1):236-47. doi: 10.1016/j.neuroscience.2007.01.038. Epub 2007 Feb 27. Neuroscience. 2007. PMID: 17331656

3

Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene.

Shoubridge C, Cloosterman D, Parkinson-Lawerence E, Brooks D, Gécz J. Shoubridge C, et al. Genomics. 2007 Jul;90(1):59-71. doi: 10.1016/j.ygeno.2007.03.005. Epub 2007 May 9. Genomics. 2007. PMID: 17490853 Free article.

4

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.

Shoubridge C, Tan MH, Fullston T, Cloosterman D, Coman D, McGillivray G, Mancini GM, Kleefstra T, Gécz J. Shoubridge C, et al. Pathogenetics. 2010 Jan 5;3:1. doi: 10.1186/1755-8417-3-1. Pathogenetics. 2010. PMID: 20148114 Free PMC article.

5

ARX spectrum disorders: making inroads into the molecular pathology.

Shoubridge C, Fullston T, Gécz J. Shoubridge C, et al. Hum Mutat. 2010 Aug;31(8):889-900. doi: 10.1002/humu.21288. Hum Mutat. 2010. PMID: 20506206 Review.

6

Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.

Fullston T, Finnis M, Hackett A, Hodgson B, Brueton L, Baynam G, Norman A, Reish O, Shoubridge C, Gecz J. Fullston T, et al. Among authors: shoubridge c. Clin Genet. 2011 Dec;80(6):510-22. doi: 10.1111/j.1399-0004.2011.01685.x. Epub 2011 May 18. Clin Genet. 2011. PMID: 21496008

7

ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression.

Shoubridge C, Tan MH, Seiboth G, Gécz J. Shoubridge C, et al. Hum Mol Genet. 2012 Apr 1;21(7):1639-47. doi: 10.1093/hmg/ddr601. Epub 2011 Dec 21. Hum Mol Genet. 2012. PMID: 22194193

8

Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

Shoubridge C, Gardner A, Schwartz CE, Hackett A, Field M, Gecz J. Shoubridge C, et al. Eur J Hum Genet. 2012 Dec;20(12):1311-4. doi: 10.1038/ejhg.2012.61. Epub 2012 Apr 11. Eur J Hum Genet. 2012. PMID: 22490986 Free PMC article.

9

PCR amplification and sequence analysis of GC-rich sequences: Aristaless-related homeobox example.

Tan MH, Gécz J, Shoubridge C. Tan MH, et al. Among authors: shoubridge c. Methods Mol Biol. 2013;1017:105-20. doi: 10.1007/978-1-62703-438-8_8. Methods Mol Biol. 2013. PMID: 23719911

10

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

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

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