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2021 2
2022 42
2023 79
2024 27

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128 results

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A framework for individualized splice-switching oligonucleotide therapy.
Kim J, Woo S, de Gusmao CM, Zhao B, Chin DH, DiDonato RL, Nguyen MA, Nakayama T, Hu CA, Soucy A, Kuniholm A, Thornton JK, Riccardi O, Friedman DA, El Achkar CM, Dash Z, Cornelissen L, Donado C, Faour KNW, Bush LW, Suslovitch V, Lentucci C, Park PJ, Lee EA, Patterson A, Philippakis AA, Margus B, Berde CB, Yu TW. Kim J, et al. Nature. 2023 Jul;619(7971):828-836. doi: 10.1038/s41586-023-06277-0. Epub 2023 Jul 12. Nature. 2023. PMID: 37438524 Free PMC article.
Here we performed whole-genome sequencing analyses to characterize genetic variation in 235 individuals (from 209 families) with ataxia-telangiectasia, a severely debilitating and life-threatening recessive genetic disorder(2,3), yielding a complete molecular diagno …
Here we performed whole-genome sequencing analyses to characterize genetic variation in 235 individuals (from 209 families) with ataxia …
Camonsertib in DNA damage response-deficient advanced solid tumors: phase 1 trial results.
Yap TA, Fontana E, Lee EK, Spigel DR, Højgaard M, Lheureux S, Mettu NB, Carneiro BA, Carter L, Plummer R, Cote GM, Meric-Bernstam F, O'Connell J, Schonhoft JD, Wainszelbaum M, Fretland AJ, Manley P, Xu Y, Ulanet D, Rimkunas V, Zinda M, Koehler M, Silverman IM, Reis-Filho JS, Rosen E. Yap TA, et al. Nat Med. 2023 Jun;29(6):1400-1411. doi: 10.1038/s41591-023-02399-0. Epub 2023 Jun 5. Nat Med. 2023. PMID: 37277454 Free PMC article. Clinical Trial.
Predictive biomarkers of response are essential to effectively guide targeted cancer treatment. Ataxia telangiectasia and Rad3-related kinase inhibitors (ATRi) have been shown to be synthetic lethal with loss of function (LOF) of ataxia telangiectasia- …
Predictive biomarkers of response are essential to effectively guide targeted cancer treatment. Ataxia telangiectasia and Rad3 …
Ataxia-telangiectasia syndrome.
Fortuna J, Rodrigues AL, Pires P. Fortuna J, et al. Pediatr Neonatol. 2022 Sep;63(5):551-552. doi: 10.1016/j.pedneo.2022.01.004. Epub 2022 Mar 23. Pediatr Neonatol. 2022. PMID: 35431147 Free article. No abstract available.
The hallmarks of aging in Ataxia-Telangiectasia.
Aguado J, Gómez-Inclán C, Leeson HC, Lavin MF, Shiloh Y, Wolvetang EJ. Aguado J, et al. Ageing Res Rev. 2022 Aug;79:101653. doi: 10.1016/j.arr.2022.101653. Epub 2022 May 26. Ageing Res Rev. 2022. PMID: 35644374 Free article. Review.
Ataxia-telangiectasia (A-T) is caused by absence of the catalytic activity of ATM, a protein kinase that plays a central role in the DNA damage response, many branches of cellular metabolism, redox and mitochondrial homeostasis, and cell cycle regulation. ...
Ataxia-telangiectasia (A-T) is caused by absence of the catalytic activity of ATM, a protein kinase that plays a central role …
Quality of life in ataxia-telangiectasia.
van Os NJH. van Os NJH. Eur J Paediatr Neurol. 2022 Sep;40:A1. doi: 10.1016/j.ejpn.2022.08.005. Epub 2022 Aug 19. Eur J Paediatr Neurol. 2022. PMID: 36050258 No abstract available.
Ataxia-telangiectasia clinical trial landscape and the obstacles to overcome.
Kuhn K, Lederman HM, McGrath-Morrow SA. Kuhn K, et al. Expert Opin Investig Drugs. 2023 Jul-Dec;32(8):693-704. doi: 10.1080/13543784.2023.2249399. Epub 2023 Aug 28. Expert Opin Investig Drugs. 2023. PMID: 37622329 Review.
INTRODUCTION: Ataxia telangiectasia (A-T) is a life-limiting autosomal recessive disease characterized by cerebellar degeneration, ocular telangiectasias, and sinopulmonary disease. ...
INTRODUCTION: Ataxia telangiectasia (A-T) is a life-limiting autosomal recessive disease characterized by cerebellar degenerat …
ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.
Zhou Y, Börcsök J, Adib E, Kamran SC, Neil AJ, Stawiski K, Freeman D, Stormoen DR, Sztupinszki Z, Samant A, Nassar A, Bekele RT, Hanlon T, Valentine H, Epstein I, Sharma B, Felt K, Abbosh P, Wu CL, Efstathiou JA, Miyamoto DT, Anderson W, Szallasi Z, Mouw KW. Zhou Y, et al. Sci Adv. 2023 Nov 24;9(47):eadg2263. doi: 10.1126/sciadv.adg2263. Epub 2023 Nov 22. Sci Adv. 2023. PMID: 37992168 Free PMC article.
Ataxia-telangiectasia mutated (ATM) plays a central role in the cellular response to DNA damage and ATM alterations are common in several tumor types including bladder cancer. ...Furthermore, ATM loss drives sensitivity to DNA repair-targeted agents including poly(A …
Ataxia-telangiectasia mutated (ATM) plays a central role in the cellular response to DNA damage and ATM alterations are common …
Cell stretching activates an ATM mechano-transduction pathway that remodels cytoskeleton and chromatin.
Bastianello G, Porcella G, Beznoussenko GV, Kidiyoor G, Ascione F, Li Q, Cattaneo A, Matafora V, Disanza A, Quarto M, Mironov AA, Oldani A, Barozzi S, Bachi A, Costanzo V, Scita G, Foiani M. Bastianello G, et al. Cell Rep. 2023 Dec 26;42(12):113555. doi: 10.1016/j.celrep.2023.113555. Epub 2023 Dec 11. Cell Rep. 2023. PMID: 38088930 Free article.
Ataxia telangiectasia mutated (ATM) and ataxia telangiectasia and Rad3-related (ATR) DNA damage response (DDR) kinases contain elastic domains. ...Mre11 mediates ATM activation following DNA damage; ATM mutations cause ataxia telangiectasia …
Ataxia telangiectasia mutated (ATM) and ataxia telangiectasia and Rad3-related (ATR) DNA damage response (DDR) k …
ATR Inhibition in Advanced Urothelial Carcinoma.
Leibrandt RC, Tu MJ, Yu AM, Lara PN, Parikh M. Leibrandt RC, et al. Clin Genitourin Cancer. 2023 Apr;21(2):203-207. doi: 10.1016/j.clgc.2022.10.016. Epub 2022 Nov 4. Clin Genitourin Cancer. 2023. PMID: 36604210 Free PMC article. Review.
The ataxia telangiectasia and Rad3-related (ATR) checkpoint kinase 1 (CHK1) pathway is intricately involved in protecting the integrity of the human genome by suppressing replication stress and repairing DNA damage. ...
The ataxia telangiectasia and Rad3-related (ATR) checkpoint kinase 1 (CHK1) pathway is intricately involved in protecting the …
Galectin-9 blockade synergizes with ATM inhibition to induce potent anti-tumor immunity.
Zheng S, Song J, Linghu D, Yang R, Liu B, Xue Z, Chen Q, Liu C, Zhong D, Hung MC, Sun L. Zheng S, et al. Int J Biol Sci. 2023 Jan 16;19(3):981-993. doi: 10.7150/ijbs.79852. eCollection 2023. Int J Biol Sci. 2023. PMID: 36778120 Free PMC article.
Here we show that antibody neutralization of Gal-9, in combination with inhibition of Ataxia telangiectasia mutated (ATM), a kinase essential for DNA damage response (DDR), is a promising modality for cancer immunotherapy. ...
Here we show that antibody neutralization of Gal-9, in combination with inhibition of Ataxia telangiectasia mutated (ATM), a k …
128 results