Point Mutation
This graph shows the total number of publications written about "Point Mutation" by people in the URMC Research Network by year, and whether "Point Mutation" was a major or minor topic of these publication.
Below are the most recent publications written about "Point Mutation" by people in Profiles.
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Mao Z, Hine C, Tian X, Van Meter M, Au M, Vaidya A, Seluanov A, Gorbunova V. SIRT6 promotes DNA repair under stress by activating PARP1. Science. 2011 Jun 17; 332(6036):1443-6.
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Glatz C, D'Aco K, Smith S, Sondheimer N. Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes. Mitochondrion. 2011 Jul; 11(4):615-9.
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Beqollari D, Kammermeier PJ. Venus fly trap domain of mGluR1 functions as a dominant negative against group I mGluR signaling. J Neurophysiol. 2010 Jul; 104(1):439-48.
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Johnson MD, O'Connell MJ, Pilcher W, Reeder JE. Fibroblast growth factor receptor-3 expression in meningiomas with stimulation of proliferation by the phosphoinositide 3 kinase-Akt pathway. J Neurosurg. 2010 May; 112(5):934-9.
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Shimomura Y, Agalliu D, Vonica A, Luria V, Wajid M, Baumer A, Belli S, Petukhova L, Schinzel A, Brivanlou AH, Barres BA, Christiano AM. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature. 2010 Apr 15; 464(7291):1043-7.
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Beqollari D, Betzenhauser MJ, Kammermeier PJ. Altered G-protein coupling in an mGluR6 point mutant associated with congenital stationary night blindness. Mol Pharmacol. 2009 Nov; 76(5):992-7.
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Bimber BN, Chugh P, Giorgi EE, Kim B, Almudevar AL, Dewhurst S, O'Connor DH, Lee HY. Nef gene evolution from a single transmitted strain in acute SIV infection. Retrovirology. 2009; 6:57.
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Fallon JL, Baker MR, Xiong L, Loy RE, Yang G, Dirksen RT, Hamilton SL, Quiocho FA. Crystal structure of dimeric cardiac L-type calcium channel regulatory domains bridged by Ca2+* calmodulins. Proc Natl Acad Sci U S A. 2009 Mar 31; 106(13):5135-40.
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Ingraham CA, Burwell LS, Skalska J, Brookes PS, Howell RL, Sheu SS, Pinkert CA. NDUFS4: creation of a mouse model mimicking a Complex I disorder. Mitochondrion. 2009 Jun; 9(3):204-10.
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Cunniff C, Andrews J, Meaney FJ, Mathews KD, Matthews D, Ciafaloni E, Miller TM, Bodensteiner JB, Miller LA, James KA, Druschel CM, Romitti PA, Pandya S. Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy. J Child Neurol. 2009 Apr; 24(4):425-30.
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