Below are the most recent publications written about "Mutation" by people in Profiles.
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Ralph D, Nitschke Y, Levine MA, Caffet M, Wurst T, Saeidian AH, Youssefian L, Vahidnezhad H, Terry SF, Rutsch F, Uitto J, Li Q. ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification. PLoS Genet. 2022 04; 18(4):e1010192.
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Arisi MF, Dotan E, Fernandez SV. Circulating Tumor DNA in Precision Oncology and Its Applications in Colorectal Cancer. Int J Mol Sci. 2022 Apr 18; 23(8).
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Williams KB, Horst M, Young M, Pascua C, Puffenberger EG, Brigatti KW, Gonzaga-Jauregui C, Shuldiner AR, Gidding S, Strauss KA, Chowdhury D. Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B. BMC Cardiovasc Disord. 2022 03 17; 22(1):109.
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Bi X, French Z, Palmisiano N, Wen KY, Wilde L. The prognostic impact of cigarette smoking on survival in acute myeloid leukemia with TP53 mutations and/or 17p deletions. Ann Hematol. 2022 Jun; 101(6):1251-1259.
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Aragaw WW, Cotroneo N, Stokes S, Pucci M, Critchley I, Gengenbacher M, Dick T. In Vitro Resistance against DNA Gyrase Inhibitor SPR719 in Mycobacterium avium and Mycobacterium abscessus. Microbiol Spectr. 2022 02 23; 10(1):e0132121.
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Youssefian L, Khodavaisy S, Khosravi-Bachehmir F, Park JS, Saeidian AH, Mahmoudi H, Saffarian Z, Naraghi ZS, Kamyab-Hesari K, Zeinali S, Vahidnezhad H, Uitto J. Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP. J Eur Acad Dermatol Venereol. 2022 Mar; 36(3):472-479.
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Ferguson CJ, Urso O, Bodrug T, Gassaway BM, Watson ER, Prabu JR, Lara-Gonzalez P, Martinez-Chacin RC, Wu DY, Brigatti KW, Puffenberger EG, Taylor CM, Haas-Givler B, Jinks RN, Strauss KA, Desai A, Gabel HW, Gygi SP, Schulman BA, Brown NG, Bonni A. APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain. Mol Cell. 2022 01 06; 82(1):90-105.e13.
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Samukawa S, Yoshimi R, Kirino Y, Nakajima H. The PRY/SPRY domain of pyrin/TRIM20 interacts with ß2-microglobulin to promote inflammasome formation. Sci Rep. 2021 12 08; 11(1):23613.
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Langelier MF, Billur R, Sverzhinsky A, Black BE, Pascal JM. HPF1 dynamically controls the PARP1/2 balance between initiating and elongating ADP-ribose modifications. Nat Commun. 2021 11 18; 12(1):6675.
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Pagliaroli L, Porazzi P, Curtis AT, Scopa C, Mikkers HMM, Freund C, Daxinger L, Deliard S, Welsh SA, Offley S, Ott CA, Calabretta B, Brugmann SA, Santen GWE, Trizzino M. Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders. Nat Commun. 2021 11 09; 12(1):6469.