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Articles published in PLoS Genet

Retrieve available abstracts of 13 articles:
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Single Articles


    March 2018
  1. PAYLAKHI S, Labelle-Dumais C, Tolman NG, Sellarole MA, et al
    Muller glia-derived PRSS56 is required to sustain ocular axial growth and prevent refractive error.
    PLoS Genet. 2018;14:e1007244.
    PubMed     Text format     Abstract available


  2. HOCKING JC, Famulski JK, Yoon KH, Widen SA, et al
    Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.
    PLoS Genet. 2018;14:e1007246.
    PubMed     Text format     Abstract available


    February 2018
  3. CAPORALI L, Iommarini L, La Morgia C, Olivieri A, et al
    Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.
    PLoS Genet. 2018;14:e1007210.
    PubMed     Text format     Abstract available


    January 2018
  4. KING R, Struebing FL, Li Y, Wang J, et al
    Genomic locus modulating corneal thickness in the mouse identifies POU6F2 as a potential risk of developing glaucoma.
    PLoS Genet. 2018;14:e1007145.
    PubMed     Text format     Abstract available


  5. SAKAKIBARA Y, Sekiya M, Fujisaki N, Quan X, et al
    Knockdown of wfs1, a fly homolog of Wolfram syndrome 1, in the nervous system increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration in Drosophila.
    PLoS Genet. 2018;14:e1007196.
    PubMed     Text format     Abstract available


    December 2017
  6. WEI W, Gomez-Duran A, Hudson G, Chinnery PF, et al
    Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.
    PLoS Genet. 2017;13:e1007126.
    PubMed     Text format     Abstract available


    August 2017
  7. JUSTICE ED, Barnum SJ, Kidd T
    The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene.
    PLoS Genet. 2017;13:e1006865.
    PubMed     Text format     Abstract available


    June 2017
  8. LI H, Reksten TR, Ice JA, Kelly JA, et al
    Identification of a Sjogren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons.
    PLoS Genet. 2017;13:e1006820.
    PubMed     Text format     Abstract available


    April 2017
  9. TERZENIDOU ME, Segklia A, Kano T, Papastefanaki F, et al
    Novel insights into SLC25A46-related pathologies in a genetic mouse model.
    PLoS Genet. 2017;13:e1006656.
    PubMed     Text format     Abstract available


  10. PEARRING JN, San Agustin JT, Lobanova ES, Gabriel CJ, et al
    Loss of Arf4 causes severe degeneration of the exocrine pancreas but not cystic kidney disease or retinal degeneration.
    PLoS Genet. 2017;13:e1006740.
    PubMed     Text format     Abstract available


    June 2016
  11. CHEN JH, Huang C, Zhang B, Yin S, et al
    Mutations of RagA GTPase in mTORC1 Pathway Are Associated with Autosomal Dominant Cataracts.
    PLoS Genet. 2016;12:e1006090.
    PubMed     Text format     Abstract available


    February 2016
  12. ELOY P, Dehainault C, Sefta M, Aerts I, et al
    A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.
    PLoS Genet. 2016;12:e1005888.
    PubMed     Text format     Abstract available


    January 2016
  13. BECIROVIC E, Bohm S, Nguyen ON, Riedmayr LM, et al
    In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.
    PLoS Genet. 2016;12:e1005811.
    PubMed     Text format     Abstract available


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