Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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Dutta D, Kim Y, Ho CY, Seidman JG, Seidman CE, Craig R, Padr?n R. Thick filament molecular interfaces play a critical role in the pathogenesis of hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A. 2026 Jul 07; 123(27):e2529234123.
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Fluri R, Coll-Tan? M, Brunet T, Cogne B, Conrad S, Nizon M, Nicita F, Travaglini L, Novelli A, Glissmeyer M, Peterson A, Buchan JG, Serber D, Meier K, G?rtner J, Diegmann S, Pingault V, Attie-Bitach T, Courtin T, Schneider MC, Hung W, Sahai I, O'Grady L, Steindl K, Mehta SG, Depienne C, Heron D, Keren B, Heide S, McKee S, Laccone F, Dyer LM, Melver C, Motter C, Jones WD, Wilson ZT, Vats D, Hu? K, Zweier C, Sticht H, Gregor A. De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms. Am J Hum Genet. 2026 Jul 02; 113(7):1543-1557.
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Canton APM, Mebarak JB, Read JE, Roberts SA, Benson M, Shenoy R, Meireles CG, Magnuson M, Carroll RS, Latronico AC, Howard SR, Kaiser UB, Abreu AP. MECP2 Rare Variants in Boys With Central Precocious Puberty. J Clin Endocrinol Metab. 2026 Mar 17; 111(4):e1006-e1013.
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Deehan M, Sapp E, Iwanowicz A, Kothuis J, Weisman E, Liu S, Jones E, Iuliano M, Robertson R, Seeley C, Li Z, Noori A, Li X, Das S, Brodsky M, Aronin N, DiFiglia M, Kegel-Gleason KB. ESC derived human cortical neurons harboring the NACC1 c.892C?>?T p.R298W missense mutation exhibit molecular differences from controls that influence neuronal maturation. Hum Mol Genet. 2025 Oct 14; 34(21):1796-1807.
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Alves CRR, Das S, Krishnan V, Ha LL, Fox LR, Stutzman HE, Shamber CE, Kalailingam P, McCarthy S, Lino Cardenas CL, Fong CE, Imai T, Mitra S, Yun S, Wood RK, Benning FMC, Roh K, Lawton J, Kim N, Silverstein RA, Ferreira da Silva J, de la Cruz D, Richa R, Xie J, Gray-Edwards HL, Malhotra R, Chung DY, Chao LH, Tsai SQ, Maguire CA, Lindsay ME, Kleinstiver BP, Musolino PL. Treatment of a severe vascular disease using a bespoke CRISPR-Cas9 base editor in mice. Nat Biomed Eng. 2026 May; 10(5):952-967.
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Zhen T, Cao Y, Dou T, Chen Y, Lopez G, Menezes AC, Wu X, Hammer JA, Cheng J, Garrett L, Anderson S, Kirby M, Wincovitch S, Sisay B, Elkahloun AG, Wu D, Castilla LH, Yang W, Jiang J, Zhao K, Liu PP. CBF?-SMMHC-driven leukemogenesis requires enhanced RUNX1-DNA binding affinity in mice. J Clin Invest. 2025 10 01; 135(19).
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Miller BR, Gonzaga-Jauregui C, Brigatti KW, de Jong J, Breese RS, Ko SY, Puffenberger EG, Van Hout C, Young M, Luna VM, Staples J, First MB, Gregoire HJ, Dwork AJ, Pefanis E, McCarthy S, Brydges S, Rojas J, Ye B, Stahl E, Di Gioia SA, Hen R, Elwood K, Rosoklija G, Li D, Mellis S, Carey D, Croll SD, Overton JD, Macdonald LE, Economides AN, Shuldiner AR, Chuhma N, Rayport S, Amin N, Kushner SA, Alessandri-Haber N, Markx S, Strauss KA. A rare variant in GPR156 associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice. Proc Natl Acad Sci U S A. 2025 Apr 22; 122(16):e2404754122.
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Viswanathan MC, Dutta D, Kronert WA, Chitre K, Padr?n R, Craig R, Bernstein SI, Cammarato A. Dominant myosin storage myopathy mutations disrupt striated muscles in Drosophila and the myosin tail-tail interactome of human cardiac thick filaments. Genetics. 2025 01 08; 229(1):1-34.
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Bassani S, Chrast J, Ambrosini G, Voisin N, Sch?tz F, Brusco A, Sirchia F, Turban L, Schubert S, Abou Jamra R, Schlump JU, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen G?M, Smeland MF, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZ, McCormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanp?? MK, Pohjola P, Arikka H, Kievit AJA, Calandrini C, Iseli C, Guex N, Reymond A. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. Genome Med. 2024 05 30; 16(1):72.
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Marriott H, Spargo TP, Al Khleifat A, Andersen PM, Basak NA, Cooper-Knock J, Corcia P, Couratier P, de Carvalho M, Drory V, Gotkine M, Landers JE, McLaughlin R, Pardina JSM, Morrison KE, Pinto S, Shaw CE, Shaw PJ, Silani V, Ticozzi N, van Damme P, van den Berg LH, Vourc'h P, Weber M, Veldink JH, Dobson RJ, Schwab P, Al-Chalabi A, Iacoangeli A. Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS. Ann Clin Transl Neurol. 2024 07; 11(7):1775-1786.