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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20.
Genet Med. 2022.
PMID: 35986737
Free article.
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibáñez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF; American Genome Center (TAGC); FALS Sequencing Consortium; Genomics England Research Consortium; International ALS/FTD Genomics Consortium (iAFGC); International FTD Genetics Consortium (IFGC); International LBD Genomics Consortium (iLBDGC); NYGC ALS Consortium; PROSPECT Consortium; Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, Torkamani A, Tanaka T, Ferrucci L, Resnick SM, Pickering-Brown S, Brady CB, Kowal N, Hardy JA, Van Deerlin V, Vonsattel JP, Harms MB, Morris HR, Ferrari R, Landers JE, Chiò A, Gibbs JR, Dalgard CL, Scholz SW, Traynor BJ.
Dewan R, et al.
Neuron. 2021 Feb 3;109(3):448-460.e4. doi: 10.1016/j.neuron.2020.11.005. Epub 2020 Nov 26.
Neuron. 2021.
PMID: 33242422
Free PMC article.
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Topical delivery of aqueous micellar resolvin E1 analog (RX-10045).
Cholkar K, Gilger BC, Mitra AK.
Cholkar K, et al.
Int J Pharm. 2016 Feb 10;498(1-2):326-34. doi: 10.1016/j.ijpharm.2015.12.037. Epub 2015 Dec 17.
Int J Pharm. 2016.
PMID: 26706439
Free PMC article.
RX-10045 aqueous micelles were subjected to characterization. In vitro stability studies were performed at 4 C, 25 C and 40 C. In vivo studies were conducted in New Zealand albino rabbits following topical drop administration. ...RX-10045 demonstrated high st …
RX-10045 aqueous micelles were subjected to characterization. In vitro stability studies were performed at 4 C, 25 C and 40 …
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Simulation-based education improves military trainees' skill performance and self-confidence in tourniquet placement: A randomized controlled trial.
Scalese RJ, Issenberg SB, Hackett M, Rodriguez RD, Brotons AA, Gonzalez M, Geracci JJ, Schulman CI.
Scalese RJ, et al.
J Trauma Acute Care Surg. 2022 Aug 1;93(2S Suppl 1):S56-S63. doi: 10.1097/TA.0000000000003702. Epub 2022 May 23.
J Trauma Acute Care Surg. 2022.
PMID: 35617462
Clinical Trial.
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A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage.
Zou X, Koh GCC, Nanda AS, Degasperi A, Urgo K, Roumeliotis TI, Agu CA, Badja C, Momen S, Young J, Amarante TD, Side L, Brice G, Perez-Alonso V, Rueda D, Gomez C, Bushell W, Harris R, Choudhary JS; Genomics England Research Consortium; Jiricny J, Skarnes WC, Nik-Zainal S.
Zou X, et al.
Nat Cancer. 2021 Jun;2(6):643-657. doi: 10.1038/s43018-021-00200-0. Epub 2021 Apr 26.
Nat Cancer. 2021.
PMID: 34164627
Free PMC article.
Mismatch repair (MMR) deficiency signatures are engendered by oxidative damage (C>A transversions), differential misincorporation by replicative polymerases (T>C and C>T transitions), and we propose a 'reverse template slippage' model for T>A tran …
Mismatch repair (MMR) deficiency signatures are engendered by oxidative damage (C>A transversions), differential misincorporation …
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