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C9orf72 repeat expansion creates the unstable folate-sensitive fragile site FRA9A.
Mirceta M, Schmidt MHM, Shum N, Prasolava TK, Meikle B, Lanni S, Mohiuddin M, McKeever PM, Zhang M, Liang M, van der Werf I, Scheers S, Dion PA, Wang P, Wilson MD, Abell T, Philips EA, Sznajder ŁJ, Swanson MS, Mehkary M, Khan M, Yokoi K, Jung C, de Jong PJ, Freudenreich CH, McGoldrick P, Yuen RKC, Abrahão A, Keith J, Zinman L, Robertson J, Rogaeva E, Rouleau GA, Kooy RF, Pearson CE. Mirceta M, et al. Among authors: pearson ce. NAR Mol Med. 2024 Nov 12;1(4):ugae019. doi: 10.1093/narmme/ugae019. eCollection 2024 Oct. NAR Mol Med. 2024. PMID: 39669124 Free PMC article.
Disease-associated repeat instability and mismatch repair.
Schmidt MHM, Pearson CE. Schmidt MHM, et al. Among authors: pearson ce. DNA Repair (Amst). 2016 Feb;38:117-126. doi: 10.1016/j.dnarep.2015.11.008. Epub 2015 Dec 12. DNA Repair (Amst). 2016. PMID: 26774442 Review.
De novo mutations, genetic mosaicism and human disease.
Mohiuddin M, Kooy RF, Pearson CE. Mohiuddin M, et al. Among authors: pearson ce. Front Genet. 2022 Sep 26;13:983668. doi: 10.3389/fgene.2022.983668. eCollection 2022. Front Genet. 2022. PMID: 36226191 Free PMC article. Review.
Fragile sites, chromosomal lesions, tandem repeats, and disease.
Mirceta M, Shum N, Schmidt MHM, Pearson CE. Mirceta M, et al. Among authors: pearson ce. Front Genet. 2022 Nov 17;13:985975. doi: 10.3389/fgene.2022.985975. eCollection 2022. Front Genet. 2022. PMID: 36468036 Free PMC article. Review.
C9orf72 expansion creates the unstable folate-sensitive fragile site FRA9A.
Mirceta M, Schmidt MHM, Shum N, Prasolava TK, Meikle B, Lanni S, Mohiuddin M, Mckeever PM, Zhang M, Liang M, van der Werf I, Scheers S, Dion PA, Wang P, Wilson MD, Abell T, Philips EA, Sznajder ŁJ, Swanson MS, Mehkary M, Khan M, Yokoi K, Jung C, de Jong PJ, Freudenreich CH, McGoldrick P, Yuen RKC, Abrahão A, Keith J, Zinman L, Robertson J, Rogaeva E, Rouleau GA, Kooy RF, Pearson CE. Mirceta M, et al. Among authors: pearson ce. bioRxiv [Preprint]. 2024 Oct 29:2024.10.26.620312. doi: 10.1101/2024.10.26.620312. bioRxiv. 2024. Update in: NAR Mol Med. 2024 Nov 12;1(4):ugae019. doi: 10.1093/narmme/ugae019 PMID: 39569145 Free PMC article. Updated. Preprint.
Molecular genetics of congenital myotonic dystrophy.
Lanni S, Pearson CE. Lanni S, et al. Among authors: pearson ce. Neurobiol Dis. 2019 Dec;132:104533. doi: 10.1016/j.nbd.2019.104533. Epub 2019 Jul 19. Neurobiol Dis. 2019. PMID: 31326502 Free article. Review.
FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders.
Deshmukh AL, Porro A, Mohiuddin M, Lanni S, Panigrahi GB, Caron MC, Masson JY, Sartori AA, Pearson CE. Deshmukh AL, et al. Among authors: pearson ce. J Huntingtons Dis. 2021;10(1):95-122. doi: 10.3233/JHD-200448. J Huntingtons Dis. 2021. PMID: 33579867 Free PMC article. Review.
131 results