Below are the most recent publications written about "Point Mutation" by people in Profiles.
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Cai J, Kropf E, Hou YM, Iacovitti L. A stress-free strategy to correct point mutations in patient iPS cells. Stem Cell Res. 2021 05; 53:102332.
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Pathak P, Blech-Hermoni Y, Subedi K, Mpamugo J, Obeng-Nyarko C, Ohman R, Molloy I, Kates M, Hale J, Stauffer S, Sharan SK, Mankodi A. Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCa and TSC2-mTOR downregulation. Commun Biol. 2021 03 19; 4(1):355.
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Hammel M, Rashid I, Sverzhinsky A, Pourfarjam Y, Tsai MS, Ellenberger T, Pascal JM, Kim IK, Tainer JA, Tomkinson AE. An atypical BRCT-BRCT interaction with the XRCC1 scaffold protein compacts human DNA Ligase IIIa within a flexible DNA repair complex. Nucleic Acids Res. 2021 01 11; 49(1):306-321.
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Clatot J, Neyroud N, Cox R, Souil C, Huang J, Guicheney P, Antzelevitch C. Inter-Regulation of Kv4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies. Int J Mol Sci. 2020 Jul 17; 21(14).
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Jang K, Park MJ, Park JS, Hwangbo H, Sung MK, Kim S, Jung J, Lee JW, Ahn SH, Chang S, Choi JK. Computational inference of cancer-specific vulnerabilities in clinical samples. Genome Biol. 2020 06 29; 21(1):155.
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Blus BJ, Hashimoto H, Seo HS, Krolak A, Debler EW. Substrate Affinity and Specificity of the ScSth1p Bromodomain Are Fine-Tuned for Versatile Histone Recognition. Structure. 2019 09 03; 27(9):1460-1468.e3.
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Cornett A, Athwal HK, Hill E, Murphy G, Yeoh K, Moskaluk CA, Witt RL, D'Silva NJ, Agarwal S, Lombaert IMA. Serial patient-derived orthotopic xenografting of adenoid cystic carcinomas recapitulates stable expression of phenotypic alterations and innervation. EBioMedicine. 2019 Mar; 41:175-184.
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Lorenzo-Betancor O, Blackburn PR, Edwards E, V?zquez-do-Campo R, Klee EW, Labb? C, Hodges K, Glover P, Sigafoos AN, Soto AI, Walton RL, Doxsey S, Bober MB, Jennings S, Clark KJ, Asmann Y, Miller D, Freeman WD, Meschia J, Ross OA. PCNT point mutations and familial intracranial aneurysms. Neurology. 2018 12 04; 91(23):e2170-e2181.
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Topf MC, Wang ZX, Furlong K, Miller JL, Tuluc M, Pribitkin EA. EIF1AX Mutation in a Patient with H?rthle Cell Carcinoma. Endocr Pathol. 2018 Mar; 29(1):27-29.
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Rathkopf DE, Smith MR, Ryan CJ, Berry WR, Shore ND, Liu G, Higano CS, Alumkal JJ, Hauke R, Tutrone RF, Saleh M, Chow Maneval E, Thomas S, Ricci DS, Yu MK, de Boer CJ, Trinh A, Kheoh T, Bandekar R, Scher HI, Antonarakis ES. Androgen receptor mutations in patients with castration-resistant prostate cancer treated with apalutamide. Ann Oncol. 2017 Sep 01; 28(9):2264-2271.