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High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds.
Ament SA, Pearl JR, Grindeland A, St Claire J, Earls JC, Kovalenko M, Gillis T, Mysore J, Gusella JF, Lee JM, Kwak S, Howland D, Lee MY, Baxter D, Scherler K, Wang K, Geman D, Carroll JB, MacDonald ME, Carlson G, Wheeler VC, Price ND, Hood LE. Ament SA, et al. Among authors: pearl jr. Hum Mol Genet. 2017 Mar 1;26(5):913-922. doi: 10.1093/hmg/ddx006. Hum Mol Genet. 2017. PMID: 28334820 Free PMC article.
Enhanced retinal responses in Huntington's disease patients.
Pearl JR, Heath LM, Bergey DE, Kelly JP, Smith C, Laurino MY, Weiss A, Price ND, LaSpada A, Bird TD, Jayadev S. Pearl JR, et al. J Huntingtons Dis. 2017;6(3):237-247. doi: 10.3233/JHD-170255. J Huntingtons Dis. 2017. PMID: 28968243
A genome scale transcriptional regulatory model of the human placenta.
Paquette A, Ahuna K, Hwang YM, Pearl J, Liao H, Shannon P, Kadam L, Lapehn S, Bucher M, Roper R, Funk C, MacDonald J, Bammler T, Baloni P, Brockway H, Mason WA, Bush N, Lewinn KZ, Karr CJ, Stamatoyannopoulos J, Muglia LJ, Jones H, Sadovsky Y, Myatt L, Sathyanarayana S, Price ND. Paquette A, et al. Sci Adv. 2024 Jun 28;10(26):eadf3411. doi: 10.1126/sciadv.adf3411. Epub 2024 Jun 28. Sci Adv. 2024. PMID: 38941464 Free PMC article.
Allele-selective transcriptional repression of mutant HTT for the treatment of Huntington's disease.
Zeitler B, Froelich S, Marlen K, Shivak DA, Yu Q, Li D, Pearl JR, Miller JC, Zhang L, Paschon DE, Hinkley SJ, Ankoudinova I, Lam S, Guschin D, Kopan L, Cherone JM, Nguyen HB, Qiao G, Ataei Y, Mendel MC, Amora R, Surosky R, Laganiere J, Vu BJ, Narayanan A, Sedaghat Y, Tillack K, Thiede C, Gärtner A, Kwak S, Bard J, Mrzljak L, Park L, Heikkinen T, Lehtimäki KK, Svedberg MM, Häggkvist J, Tari L, Tóth M, Varrone A, Halldin C, Kudwa AE, Ramboz S, Day M, Kondapalli J, Surmeier DJ, Urnov FD, Gregory PD, Rebar EJ, Muñoz-Sanjuán I, Zhang HS. Zeitler B, et al. Among authors: pearl jr. Nat Med. 2019 Jul;25(7):1131-1142. doi: 10.1038/s41591-019-0478-3. Epub 2019 Jul 1. Nat Med. 2019. PMID: 31263285
Translating dosage compensation to trisomy 21.
Jiang J, Jing Y, Cost GJ, Chiang JC, Kolpa HJ, Cotton AM, Carone DM, Carone BR, Shivak DA, Guschin DY, Pearl JR, Rebar EJ, Byron M, Gregory PD, Brown CJ, Urnov FD, Hall LL, Lawrence JB. Jiang J, et al. Among authors: pearl jr. Nature. 2013 Aug 15;500(7462):296-300. doi: 10.1038/nature12394. Epub 2013 Jul 17. Nature. 2013. PMID: 23863942 Free PMC article.
Targeted gene addition in human CD34(+) hematopoietic cells for correction of X-linked chronic granulomatous disease.
De Ravin SS, Reik A, Liu PQ, Li L, Wu X, Su L, Raley C, Theobald N, Choi U, Song AH, Chan A, Pearl JR, Paschon DE, Lee J, Newcombe H, Koontz S, Sweeney C, Shivak DA, Zarember KA, Peshwa MV, Gregory PD, Urnov FD, Malech HL. De Ravin SS, et al. Among authors: pearl jr. Nat Biotechnol. 2016 Apr;34(4):424-9. doi: 10.1038/nbt.3513. Epub 2016 Mar 7. Nat Biotechnol. 2016. PMID: 26950749 Free PMC article.
23 results