Below are the most recent publications written about "Mutation" by people in Profiles.
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Tebbe L, Sakthivel H, Makia MS, Kakakhel M, Conley SM, Al-Ubaidi MR, Naash MI. Prph2 disease mutations lead to structural and functional defects in the RPE. FASEB J. 2022 05; 36(5):e22284.
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Allen RA, Williams CL, Penrod Y, McCloskey C, Carpenter-Azevedo K, Huard RC, King E, Terence Dunn S. A pyrosequencing protocol for rapid identification of SARS-CoV-2 variants. J Med Virol. 2022 Aug; 94(8):3661-3668.
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Wu W, Takahashi Y, Shin HY, Ma X, Moiseyev G, Ma JX. The interplay of environmental luminance and genetics in the retinal dystrophy induced by the dominant RPE65 mutation. Proc Natl Acad Sci U S A. 2022 03 15; 119(11):e2115202119.
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Song CJ, Li Z, Ahmed UKB, Bland SJ, Yashchenko A, Liu S, Aloria EJ, Lever JM, Gonzalez NM, Bickel MA, Giles CB, Georgescu C, Wren JD, Lang ML, Benveniste EN, Harrington LE, Tsiokas L, George JF, Jones KL, Crossman DK, Agarwal A, Mrug M, Yoder BK, Hopp K, Zimmerman KA. A Comprehensive Immune Cell Atlas of Cystic Kidney Disease Reveals the Involvement of Adaptive Immune Cells in Injury-Mediated Cyst Progression in Mice. J Am Soc Nephrol. 2022 04; 33(4):747-768.
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Johnson BP, Kumar V, Scull EM, Thomas LM, Bourne CR, Singh S. Molecular Basis for the Substrate Promiscuity of Isopentenyl Phosphate Kinase from Candidatus methanomethylophilus alvus. ACS Chem Biol. 2022 01 21; 17(1):85-102.
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Bishop CE, Shadid TM, Lavey NP, Kempher ML, Ballard JD, Duerfeldt AS. Identification of ClpP Dual Isoform Disruption as an Antisporulation Strategy for Clostridioides difficile. J Bacteriol. 2022 02 15; 204(2):e0041121.
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Vuong HG, Le HT, Ngo TNM, Fung KM, Battiste JD, McNall-Knapp R, Dunn IF. H3K27M-mutant diffuse midline gliomas should be further molecularly stratified: an integrated analysis of 669 patients. J Neurooncol. 2021 Dec; 155(3):225-234.
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Babu K, Kathiresan V, Kumari P, Newsom S, Parameshwaran HP, Chen X, Liu J, Qin PZ, Rajan R. Coordinated Actions of Cas9 HNH and RuvC Nuclease Domains Are Regulated by the Bridge Helix and the Target DNA Sequence. Biochemistry. 2021 12 14; 60(49):3783-3800.
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Ilonze C, Galipp KM, Scordino T, Meyer WH, Baker A. A Case of Cyclic Neutropenia and Associated Amyloidosis. J Pediatr Hematol Oncol. 2021 11 01; 43(8):e1115-e1117.
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Herlea-Pana O, Eeda V, Undi RB, Lim HY, Wang W. Pharmacological Inhibition of Inositol-Requiring Enzyme 1a RNase Activity Protects Pancreatic Beta Cell and Improves Diabetic Condition in Insulin Mutation-Induced Diabetes. Front Endocrinol (Lausanne). 2021; 12:749879.