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2017

Breuss MW, Hansen AH, Landler L, Keays DA. Brain-specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition. Behav Brain Res. 2017 Apr 14;323:47-55. (abstract) (pdf Breuss 2017a).

Breuss MW, Keays DA. Tubulins and Brain Development – The Origins of Functional Specification. Molecular and Cellular Neuroscience, 2017. 2017 Mar 24. pii: S1044-7431(16)30250-0. (abstract) (pdf Breuss 2017b).

Breuss MW, Nguyen T, Srivatsan A, Leca I, Tian G, Fritz T, Hansen AH, Musaev D, McEvoy-Venneri J, James KN, Rosti RO, Scott E, Tan U, Kolodner RD, Cowan NJ, Keays DA, Gleeson JG. Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability. Hum Mol Genet.  2017 Jan 15;26(2):258-269. (abstract) (pdf Breuss 2017c).

2016

Broix L, Jagline H, L Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A; Deciphering Developmental Disorders study., Moïse M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischké P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J. Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. Nat Genet. 2016 Oct 3. doi: 10.1038/ng.3676. (abstract) (pdf Broix).

Pagnamenta AT, Howard MF, Knight SJ, Keays DA, Quaghebeur G, Taylor JC, Kini U. Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.  Clin Case Rep. 2016 Aug 23;4(10):952-956 (abstract) (pdf Pagnamenta 2016).

Haas MA, Ngo L, Li SS, Schleich S, Qu Z, Vanyai HK, Cullen HD, Cardona-Alberich A, Gladwyn-Ng IE, Pagnamenta AT, Taylor JC, Stewart H, Kini U, Duncan KE, Teleman AA, Keays DA, Heng JI. De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation. Cell Rep. 2016 Jun 7;15(10):2251-65 (abstract) (pdf Haas)

Lange L, Pagnamenta AT, Lise S, Clasper S, Stewart H, Akha ES, Quaghebeur G, Knight SJ, Keays DA, Taylor JC, Kini U. A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia. Clin Genet. 2016 Mar 8 (abstract) (pdf Lange).

Breuss M, Fritz T, Gstrein T, Chan K, Ushakova L, Yu N, Vonberg FW, Werner B, Elling U, Keays DA. Development. Mutations in the murine homologue of TUBB5 cause microcephaly by perturbing cell cycle progression and inducing p53-associated apoptosis.  2016 Apr 1;143(7):1126-33. Cover (abstract) (pdf Breuss no 3)

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2015

Breuss M, Tian G, Hansen AH, Cristofoli F, Morandell J, Kupchinsky ZA, Sifrim A, Rodriguez-Rodriguez CM, Dapena EP, Doonanco K, Leonard N, Tinsa F, Moortgat S, Ulucan H, Koparir E, Karaca E, Katsanis N, Marton V, Vermeesch JR, Davis EE, Cowan NJ, Keays DA, Van Esch H. Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. Am J Hum Genet. 2015 Dec 3;97(6):790-800. (abstract) (pdf Isrie)

Breuss M, Morandell J, Nimpf S, Gstrein T, Lauwers M, Hochstoeger T, Braun A, Chan K, Sánchez Guajardo ER, Zhang L, Suplata M, Heinze KG, Elsayad K, Keays DA. The expression of Tubb2b undergoes a developmental switch in murine cortical neurons. J Comp Neurol. 2015 Oct 15;523(15):2161-86. Cover. (abstract) (pdf Breuss).

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Edelman NB, Fritz T, Nimpf S, Pichler P, Lauwers M, Hickman RW, Papadaki-Anastasopoulou A, Ushakova L, Heuser T, Resch GP, Saunders M, Shaw JA, Keays DA. No evidence for intracellular magnetite in putative vertebrate magnetoreceptors identified by magnetic screening. Proc Natl Acad Sci U S A. 2015 Jan 6;112(1):262-7. (abstract) (pdf Edelman)

lkovski B, Pagnamenta AT, O’Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F, North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y, Clarke NF. Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. Hum Mol Genet. 2015 Nov 1;24(21):6146-59. (abstract).

Pagnamenta AT, Howard MF, Wisniewski E, Popitsch N, Knight SJ, Keays DA, Quaghebeur G, Cox H, Cox P, Balla T, Taylor JC, Kini U. Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis. Hum Mol Genet. 2015 Jul 1;24(13):3732-41. (abstract).

2014

Ngo L, Haas M, Qu Z, Li SS, Zenker J, Teng KS, Gunnersen JM, Breuss M, Habgood M, Keays D, Heng JI. TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons. Hum Mol Genet. 2014 May 15. (abstract) (pdf Ngo).

Breuss M, Keays D. Microtubules and neurodevelopment disease: the movers and the makers. Adv Exp Med Biol. 2014;800:75-96. (abstract) (pdf Breuss)

Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kölsch U, Krüger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM. Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation. Am J Hum Genet. 2014 Feb 6;94(2):278-87. (abstract) (pdf Howard)

2013

Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain. 2013 Sep 20. (abstract) (pdf Conti).

Treiber CD, Salzer M, Breuss M, Ushakova L, Lauwers M, Edelman N, Keays DA. (2013). High Resolution Anatomical Mapping Confirms the Absence of a Magnetic Sense System in the Rostral Upper Beak of Pigeons. Commun Integr Biol. 2013 Jul 1;6(4). (abstract) (pdf Treiber 2013).

Lauwers, M., Pichler, P., Edelman, NB., Resch, GP., Ushakova, L., Salzer, MC., Heyers, D., Saunders, M., Shaw, J., Keays, DA. (2013). An Iron-Rich Organelle in the Cuticular Plate of Avian Hair Cells. Curr Biol. (abstract) (pdf Lauwers)

Watkins-Chow, DE., Cooke, J., Pidsley, R., Edwards, A., Slotkin, R., Leeds, KE., Mullen, R., Baxter, LL., Campbell, TG., Salzer, MC., Biondini, L., Gibney, G., Phan Dinh Tuy, F., Chelly, J., Morris, HD., Riegler, J., Lythgoe, MF., Arkell, RM., Loreni, F., Flint, J., Pavan, WJ., Keays, DA. (2013). Mutation of the diamond-blackfan anemia gene rps7 in mouse results in morphological and neuroanatomical phenotypes. PLoS Genet. 9(1):e1003094 (abstract) (pdf Watkins-Chow).

2012

Breuss, M., Heng, JI., Poirier, K., Tian, G., Jaglin, XH., Qu, Z., Braun, A., Gstrein, T., Ngo, L., Haas, M., Bahi-Buisson, N., Moutard, ML., Passemard, S., Verloes, A., Gressens, P., Xie, Y., Robson, KJ., Rani, DS., Thangaraj, K., Clausen, T., Chelly, J., Cowan, NJ., Keays, DA. (2012). Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities. Cell Rep. 2(6):1554-62 (abstract) (pdf Breuss 2012)

Pagnamenta, AT., Lise, S., Harrison, V., Stewart, H., Jayawant, S., Quaghebeur, G., Deng, AT., Murphy, VE., Sadighi Akha, E., Rimmer, A., Mathieson, I., Knight, SJ., Kini, U., Taylor, JC., Keays, DA. (2012). Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies. J Hum Genet. 57(1):70-2 (abstract) (Pagnamenta 2012)

Pagnamenta, AT., Murray, JE., Yoon, G., Sadighi Akha, E., Harrison, V., Bicknell, LS., Ajilogba, K., Stewart, H., Kini, U., Taylor, JC., Keays, DA., Jackson, AP., Knight, SJ. (2012). A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss. Am J Med Genet A. 158A(10):2577-82 (abstract) (pdf Pagnamenta)

Treiber, CD., Salzer, MC., Riegler, J., Edelman, N., Sugar, C., Breuss, M., Pichler, P., Cadiou, H., Saunders, M., Lythgoe, M., Shaw, J., Keays, DA. (2012). Clusters of iron-rich cells in the upper beak of pigeons are macrophages not magnetosensitive neurons. Nature. 484(7394):367-70 (abstract) (pdf Treiber 2012)

2011

Edwards, A., Treiber, CD., Breuss, M., Pidsley, R., Huang, GJ., Cleak, J., Oliver, PL., Flint, J., Keays, DA. (2011). Cytoarchitectural disruption of the superior colliculus and an enlarged acoustic startle response in the Tuba1a mutant mouse. Neuroscience. 195:191-200 (abstract) (Edwards 2011)

Stöger-Pollach, M., Treiber, CD., Resch, GP., Keays, DA., Ennen, I. (2011). EMCD real space maps of Magnetospirillum magnetotacticum. Micron. 42(5):456-60 (abstract) (pdf Stoger).

2010

Braun, A., Breuss, M., Salzer, MC., Flint, J., Cowan, NJ., Keays, DA. (2010). Tuba8 is expressed at low levels in the developing mouse and human brain. Am J Hum Genet. 86(5):819-22; author reply 822-3 (abstract) (pdf Braun)

Keays, DA., Cleak, J., Huang, GJ., Edwards, A., Braun, A., Treiber, CD., Pidsley, R., Flint, J. (2010). The role of Tuba1a in adult hippocampal neurogenesis and the formation of the dentate gyrus. Dev Neurosci. 32(4):268-77 (abstract) (pdf Keays).

Tian, G., Jaglin, XH., Keays, DA., Francis, F., Chelly, J., Cowan, NJ. (2010). Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway. Hum Mol Genet. 19(18):3599-613 (abstract) (pdf Tian).

2009

Jaglin, XH., Poirier, K., Saillour, Y., Buhler, E., Tian, G., Bahi-Buisson, N., Fallet-Bianco, C., Phan-Dinh-Tuy, F., Kong, XP., Bomont, P., Castelnau-Ptakhine, L., Odent, S., Loget, P., Kossorotoff, M., Snoeck, I., Plessis, G., Parent, P., Beldjord, C., Cardoso, C., Represa, A., Flint, J., Keays, DA., Cowan, NJ., Chelly, J. (2009). Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet. 41(6):746-52 (abstract) (pdf Jaglin).

2008

Groszer, M., Keays, DA., Deacon, RM., de Bono, JP., Prasad-Mulcare, S., Gaub, S., Baum, MG., French, CA., Nicod, J., Coventry, JA., Enard, W., Fray, M., Brown, SD., Nolan, PM., Pääbo, S., Channon, KM., Costa, RM., Eilers, J., Ehret, G., Rawlins, JN., Fisher, SE. (2008). Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits. Curr Biol. 18(5):354-62 (abstract) (pdf Groszer).

Tian, G., Kong, XP., Jaglin, XH., Chelly, J., Keays, D., Cowan, NJ. (2008). A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB. Mol Biol Cell. 19(3):1152-61 (abstract)

2007

Keays, DA. (2007). Neuronal migration: unraveling the molecular pathway with humans, mice, and a fungus. Mamm Genome. 18(6-7):425-30 (abstract)

Keays, DA., Clark, TG., Campbell, TG., Broxholme, J., Valdar, W. (2007). Estimating the number of coding mutations in genotypic and phenotypic driven N-ethyl-N-nitrosourea (ENU) screens: revisited. Mamm Genome. 18(2):123-4 (abstract)

Keays, DA., Tian, G., Poirier, K., Huang, GJ., Siebold, C., Cleak, J., Oliver, PL., Fray, M., Harvey, RJ., Molnár, Z., Piñon, MC., Dear, N., Valdar, W., Brown, SD., Davies, KE., Rawlins, JN., Cowan, NJ., Nolan, P., Chelly, J., Flint, J. (2007). Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Cell. 128(1):45-57 (abstract)

Oliver, PL., Keays, DA., Davies, KE. (2007). Behavioural characterisation of the robotic mouse mutant. Behav Brain Res. 181(2):239-47 (abstract)

Poirier, K., Keays, DA., Francis, F., Saillour, Y., Bahi, N., Manouvrier, S., Fallet-Bianco, C., Pasquier, L., Toutain, A., Tuy, FP., Bienvenu, T., Joriot, S., Odent, S., Ville, D., Desguerre, I., Goldenberg, A., Moutard, ML., Fryns, JP., van Esch, H., Harvey, RJ., Siebold, C., Flint, J., Beldjord, C., Chelly, J. (2007). Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat. 28(11):1055-64 (abstract)

2006

Keays, DA., Clark, TG., Flint, J. (2006). Estimating the number of coding mutations in genotypic- and phenotypic-driven N-ethyl-N-nitrosourea (ENU) screens. Mamm Genome. 17(3):230-8 (abstract)

Livett, BG., Sandall, DW., Keays, D., Down, J., Gayler, KR., Satkunanathan, N., Khalil, Z. (2006). Therapeutic applications of conotoxins that target the neuronal nicotinic acetylcholine receptor. Toxicon. 48(7):810-29 (abstract)

2004

Bogani, D., Warr, N., Elms, P., Davies, J., Tymowska-Lalanne, Z., Goldsworthy, M., Cox, RD., Keays, DA., Flint, J., Wilson, V., Nolan, P., Arkell, R. (2004). New semidominant mutations that affect mouse development. Genesis. 40(2):109-117 (abstract)

Jakubowski, JA., Keays, DA., Kelley, WP., Sandall, DW., Bingham, JP., Livett, BG., Gayler, KR., Sweedler, JV. (2004). Determining sequences and post-translational modifications of novel conotoxins in Conus victoriae using cDNA sequencing and mass spectrometry. J Mass Spectrom. 39(5):548-57 (abstract)

Quwailid, MM., Hugill, A., Dear, N., Vizor, L., Wells, S., Horner, E., Fuller, S., Weedon, J., McMath, H., Woodman, P., Edwards, D., Campbell, D., Rodger, S., Carey, J., Roberts, A., Glenister, P., Lalanne, Z., Parkinson, N., Coghill, EL., McKeone, R., Cox, S., Willan, J., Greenfield, A., Keays, D., Brady, S., Spurr, N., Gray, I., Hunter, J., Brown, SD., Cox, RD. (2004). A gene-driven ENU-based approach to generating an allelic series in any gene. Mamm Genome. 15(8):585-91 (abstract)

Yalcin, B., Fullerton, J., Miller, S., Keays, DA., Brady, S., Bhomra, A., Jefferson, A., Volpi, E., Copley, RR., Flint, J., Mott, R. (2004). Unexpected complexity in the haplotypes of commonly used inbred strains of laboratory mice. Proc Natl Acad Sci U S A. 101(26):9734-9 (abstract)

2003

Keays, DA., Nolan, PM. (2003). N-ethyl-N-nitrosourea mouse mutants in the dissection of behavioural and psychiatric disorders. Eur J Pharmacol. 480(1-3):205-17 (abstract)

Sandall, DW., Satkunanathan, N., Keays, DA., Polidano, MA., Liping, X., Pham, V., Down, JG., Khalil, Z., Livett, BG., Gayler, KR. (2003). A novel alpha-conotoxin identified by gene sequencing is active in suppressing the vascular response to selective stimulation of sensory nerves in vivo. Biochemistry. 42(22):6904-11 (abstract)