Below are the most recent publications written about "Point Mutation" by people in Profiles.
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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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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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Liao L, Alicea-Velázquez NL, Langbein L, Niu X, Cai W, Cho EA, Zhang M, Greer CB, Yan Q, Cosgrove MS, Yang H. High affinity binding of H3K14ac through collaboration of bromodomains 2, 4 and 5 is critical for the molecular and tumor suppressor functions of PBRM1. Mol Oncol. 2019 04; 13(4):811-828.
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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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Weiss MY, Kuriyan AE. Acute Monocular Vision Loss in a Young Adult. JAMA Ophthalmol. 2018 Mar 01; 136(3):297-298.
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Reuter MS, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, Steindl K, Gl?ser D, Joset P, Krumbiegel M, Rabe H, Schulte-Mattler U, Bauer P, Beck-W?dl S, Kohlhase J, Reis A, Zweier C. FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. J Med Genet. 2017 01; 54(1):64-72.
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Raja H, Salom?o DR, Viswanatha DS, Pulido JS. PREVALENCE OF MYD88 L265P MUTATION IN HISTOLOGICALLY PROVEN, DIFFUSE LARGE B-CELL VITREORETINAL LYMPHOMA. Retina. 2016 Mar; 36(3):624-8.
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Ho VM, Dallalzadeh LO, Karathanasis N, Keles MF, Vangala S, Grogan T, Poirazi P, Martin KC. GluA2 mRNA distribution and regulation by miR-124 in hippocampal neurons. Mol Cell Neurosci. 2014 Jul; 61:1-12.
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Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, Campeau PM, Lee BH. Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. J Bone Miner Res. 2013 Jul; 28(7):1523-30.
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Treff NR, Fedick A, Tao X, Devkota B, Taylor D, Scott RT. Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of?monogenic disease. Fertil Steril. 2013 Apr; 99(5):1377-1384.e6.