Rose AM - Search Results

1

MSR1 repeats modulate gene expression and affect risk of breast and prostate cancer.

Rose AM, Krishan A, Chakarova CF, Moya L, Chambers SK, Hollands M, Illingworth JC, Williams SMG, McCabe HE, Shah AZ, Palmer CNA, Chakravarti A, Berg JN, Batra J, Bhattacharya SS. Rose AM, et al. Ann Oncol. 2018 May 1;29(5):1292-1303. doi: 10.1093/annonc/mdy082. Ann Oncol. 2018. PMID: 29509840 Free article.

2

Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.

Rose AM, Bhattacharya SS. Rose AM, et al. Clin Genet. 2016 Aug;90(2):118-26. doi: 10.1111/cge.12758. Epub 2016 Mar 4. Clin Genet. 2016. PMID: 26853529 Review.

3

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.

Rose AM, Shah AZ, Venturini G, Krishna A, Chakravarti A, Rivolta C, Bhattacharya SS. Rose AM, et al. Sci Rep. 2016 Jan 19;6:19450. doi: 10.1038/srep19450. Sci Rep. 2016. PMID: 26781568 Free PMC article.

4

Expression of PRPF31 and TFPT: regulation in health and retinal disease.

Rose AM, Shah AZ, Waseem NH, Chakarova CF, Alfano G, Coussa RG, Ajlan R, Koenekoop RK, Bhattacharya SS. Rose AM, et al. Hum Mol Genet. 2012 Sep 15;21(18):4126-37. doi: 10.1093/hmg/dds242. Epub 2012 Jun 20. Hum Mol Genet. 2012. PMID: 22723017

5

Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".

Rose AM, Shah AZ, Venturini G, Rivolta C, Rose GE, Bhattacharya SS. Rose AM, et al. Among authors: rose ge. Ann Hum Genet. 2014 Jan;78(1):62-71. doi: 10.1111/ahg.12042. Epub 2013 Oct 14. Ann Hum Genet. 2014. PMID: 24116917 Free PMC article.

6

Gene of the month: PRPF31.

Rose AM, Luo R, Radia UK, Bhattacharya SS. Rose AM, et al. J Clin Pathol. 2017 Sep;70(9):729-732. doi: 10.1136/jclinpath-2016-203971. Epub 2017 Jun 29. J Clin Pathol. 2017. PMID: 28663330 Review.

7

A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT.

Rose AM, Shah AZ, Alfano G, Bujakowska KM, Barker AF, Robertson JL, Rahman S, Sánchez LV, Diaz-Corrales FJ, Chakarova CF, Krishna A, Bhattacharya SS. Rose AM, et al. J Mol Genet Med. 2013 Aug;7(2):1000067. doi: 10.4172/1747-0862.1000067. J Mol Genet Med. 2013. PMID: 25729402 Free PMC article.

8

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

Venturini G, Rose AM, Shah AZ, Bhattacharya SS, Rivolta C. Venturini G, et al. Among authors: rose am. PLoS Genet. 2012;8(11):e1003040. doi: 10.1371/journal.pgen.1003040. Epub 2012 Nov 8. PLoS Genet. 2012. PMID: 23144630 Free PMC article.

9

A 112 kb deletion in chromosome 19q13.42 leads to retinitis pigmentosa.

Rose AM, Mukhopadhyay R, Webster AR, Bhattacharya SS, Waseem NH. Rose AM, et al. Invest Ophthalmol Vis Sci. 2011 Aug 22;52(9):6597-603. doi: 10.1167/iovs.11-7861. Invest Ophthalmol Vis Sci. 2011. PMID: 21715351

10

Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.

Rose AM, Sergouniotis P, Alfano G, Muspratt-Tucker N, Barton S, Moore AT, Black G, Bhattacharya SS, Webster AR. Rose AM, et al. Eye (Lond). 2015 Sep;29(9):1226-32. doi: 10.1038/eye.2015.93. Epub 2015 Jun 26. Eye (Lond). 2015. PMID: 26113502 Free PMC article.

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