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Found 59 results
Filters: Keyword is Mutation  [Clear All Filters]
2016
Gee HYung, Sadowski CE, Aggarwal PK, Porath JD, Yakulov TA, Schueler M, Lovric S, Ashraf S, Braun DA, Halbritter J et al..  2016.  FAT1 mutations cause a glomerulotubular nephropathy.Nat Commun. 7:10822.
2015
Illingworth R, Moffat M, Mann AR, Read D, Hunter CJ, Pradeepa MM, Adams IR, Bickmore WA.  2015.  The E3 ubiquitin ligase activity of RING1B is not essential for early mouse development.Genes Dev. 29(18):1897-902.
2014
Alami NH, Smith RB, Carrasco MA, Williams LA, Winborn CS, Han SSW, Kiskinis E, Winborn B, Freibaum BD, Kanagaraj A et al..  2014.  Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations.Neuron. 81(3):536-43.
Beuschlein F, Fassnacht M, Assié G, Calebiro D, Stratakis CA, Osswald A, Ronchi CL, Wieland T, Sbiera S, Faucz FR et al..  2014.  Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.N Engl J Med. 370(11):1019-28.
Saraconi G, Severi F, Sala C, Mattiuz G, Conticello SG.  2014.  The RNA editing enzyme APOBEC1 induces somatic mutations and a compatible mutational signature is present in esophageal adenocarcinomas.Genome Biol. 15(7):417.
Williamson I, Berlivet S, Eskeland R, Boyle S, Illingworth R, Paquette D, Dostie J, Bickmore WA.  2014.  Spatial genome organization: contrasting views from chromosome conformation capture and fluorescence in situ hybridization.Genes Dev. 28(24):2778-91.
2013
Serio A, Bilican B, Barmada SJ, Ando DMichael, Zhao C, Siller R, Burr K, Haghi G, Story D, Nishimura AL et al..  2013.  Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy.Proc Natl Acad Sci U S A. 110(12):4697-702.
Reimer MM, Norris A, Ohnmacht J, Patani R, Zhong Z, Dias TB, Kuscha V, Scott AL, Chen Y-C, Rozov S et al..  2013.  Dopamine from the brain promotes spinal motor neuron generation during development and adult regeneration.Dev Cell. 25(5):478-91.
Garfin PM, Min D, Bryson JL, Serwold T, Edris B, C Blackburn C, Richie ER, Weinberg KI, Manley NR, Sage J et al..  2013.  Inactivation of the RB family prevents thymus involution and promotes thymic function by direct control of Foxn1 expression.J Exp Med. 210(6):1087-97.
Roberts GA, Chen K, Bower EKM, Madrzak J, Woods A, Barker AM, Cooper LP, White JH, Blakely GW, Manfield I et al..  2013.  Mutations of the domain forming the dimeric interface of the ArdA protein affect dimerization and antimodification activity but not antirestriction activity.FEBS J. 280(19):4903-14.
Bell CH, Healey E, van Erp S, Bishop B, Tang C, Gilbert RJC, A Aricescu R, R Pasterkamp J, Siebold C.  2013.  Structure of the repulsive guidance molecule (RGM)-neogenin signaling hub.Science. 341(6141):77-80.
2012
Roberts GA, Stephanou AS, Kanwar N, Dawson A, Cooper LP, Chen K, Nutley M, Cooper A, Blakely GW, Dryden DTF.  2012.  Exploring the DNA mimicry of the Ocr protein of phage T7.Nucleic Acids Res. 40(16):8129-43.
Lichius A, Lord KM, Jeffree CE, Oborny R, Boonyarungsrit P, Read ND.  2012.  Importance of MAP kinases during protoperithecial morphogenesis in Neurospora crassa.PLoS One. 7(8):e42565.
Bilican B, Serio A, Barmada SJ, Nishimura AL, Sullivan G, Carrasco M, Phatnani HP, Puddifoot CA, Story D, Fletcher J et al..  2012.  Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability.Proc Natl Acad Sci U S A. 109(15):5803-8.
Hammachi F, Morrison GM, Sharov AA, Livigni A, Narayan S, Papapetrou EP, O'Malley J, Kaji K, Ko MSH, Ptashne M et al..  2012.  Transcriptional activation by Oct4 is sufficient for the maintenance and induction of pluripotency.Cell Rep. 1(2):99-109.
2011
Severi F, Chicca A, Conticello SG.  2011.  Analysis of reptilian APOBEC1 suggests that RNA editing may not be its ancestral function.Mol Biol Evol. 28(3):1125-9.
Wilmut I, Sullivan G, Chambers I.  2011.  The evolving biology of cell reprogramming.Philos Trans R Soc Lond B Biol Sci. 366(1575):2183-97.
Meunier D, Patra K, Smits R, Hägebarth A, Lüttges A, Jaussi R, Wieduwilt MJ, Quintanilla-Fend L, Himmelbauer H, Fodde R et al..  2011.  Expression analysis of proline rich 15 (Prr15) in mouse and human gastrointestinal tumors.Mol Carcinog. 50(1):8-15.
Lord KM, Read ND.  2011.  Perithecium morphogenesis in Sordaria macrospora.Fungal Genet Biol. 48(4):388-99.
2010
Bialecka M, Wilson V, Deschamps J.  2010.  Cdx mutant axial progenitor cells are rescued by grafting to a wild type environment.Dev Biol. 347(1):228-34.
Hampton DW, Webber DJ, Bilican B, Goedert M, Spillantini MGrazia, Chandran S.  2010.  Cell-mediated neuroprotection in a mouse model of human tauopathy.J Neurosci. 30(30):9973-83.
Herrero-González S, Gangoso E, Giaume C, Naus CC, Medina JM, Tabernero A.  2010.  Connexin43 inhibits the oncogenic activity of c-Src in C6 glioma cells.Oncogene. 29(42):5712-23.
Hanina SA, Mifsud W, Down TA, Hayashi K, O'Carroll D, Lao K, Miska EA, M Surani A.  2010.  Genome-wide identification of targets and function of individual MicroRNAs in mouse embryonic stem cells.PLoS Genet. 6(10):e1001163.
Bloemendal S, Lord KM, Rech C, Hoff B, Engh I, Read ND, Kück U.  2010.  A mutant defective in sexual development produces aseptate ascogonia.Eukaryot Cell. 9(12):1856-66.
2009
Soufi A, Noy P, Buckle M, Sawasdichai A, Gaston K, Jayaraman P-S.  2009.  CK2 phosphorylation of the PRH/Hex homeodomain functions as a reversible switch for DNA binding.Nucleic Acids Res. 37(10):3288-300.

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