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Items: 1 to 50 of 53

1.

Cryptochrome: The magnetosensor with a sinister side?

Landler L, Keays DA.

PLoS Biol. 2018 Oct 2;16(10):e3000018. doi: 10.1371/journal.pbio.3000018. eCollection 2018 Oct.

2.

Lidocaine is a nocebo treatment for trigeminally mediated magnetic orientation in birds.

Engels S, Treiber CD, Salzer MC, Michalik A, Ushakova L, Keays DA, Mouritsen H, Heyers D.

J R Soc Interface. 2018 Aug;15(145). pii: 20180124. doi: 10.1098/rsif.2018.0124.

PMID:
30089685
3.

Ectopic otoconial formation in the lagena of the pigeon inner ear.

Malkemper EP, Mason MJ, Kagerbauer D, Nimpf S, Keays DA.

Biol Open. 2018 Aug 2;7(8). pii: bio034462. doi: 10.1242/bio.034462.

4.

Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.

Gstrein T, Edwards A, Přistoupilová A, Leca I, Breuss M, Pilat-Carotta S, Hansen AH, Tripathy R, Traunbauer AK, Hochstoeger T, Rosoklija G, Repic M, Landler L, Stránecký V, Dürnberger G, Keane TM, Zuber J, Adams DJ, Flint J, Honzik T, Gut M, Beltran S, Mechtler K, Sherr E, Kmoch S, Gut I, Keays DA.

Nat Neurosci. 2018 Aug;21(8):1139. doi: 10.1038/s41593-018-0170-9.

PMID:
29875394
5.

Comment on "Magnetosensitive neurons mediate geomagnetic orientation in Caenorhabditis elegans".

Landler L, Nimpf S, Hochstoeger T, Nordmann GC, Papadaki-Anastasopoulou A, Keays DA.

Elife. 2018 Apr 13;7. pii: e30187. doi: 10.7554/eLife.30187.

6.

Improved Genome Assembly and Annotation for the Rock Pigeon (Columba livia).

Holt C, Campbell M, Keays DA, Edelman N, Kapusta A, Maclary E, T Domyan E, Suh A, Warren WC, Yandell M, Gilbert MTP, Shapiro MD.

G3 (Bethesda). 2018 May 4;8(5):1391-1398. doi: 10.1534/g3.117.300443.

7.

Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.

Gstrein T, Edwards A, Přistoupilová A, Leca I, Breuss M, Pilat-Carotta S, Hansen AH, Tripathy R, Traunbauer AK, Hochstoeger T, Rosoklija G, Repic M, Landler L, Stránecký V, Dürnberger G, Keane TM, Zuber J, Adams DJ, Flint J, Honzik T, Gut M, Beltran S, Mechtler K, Sherr E, Kmoch S, Gut I, Keays DA.

Nat Neurosci. 2018 Feb;21(2):207-217. doi: 10.1038/s41593-017-0053-5. Epub 2018 Jan 8. Erratum in: Nat Neurosci. 2018 Aug;21(8):1139.

8.

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

Conti V, Carabalona A, Pallesi-Pocachard E, Leventer RJ, Schaller F, Parrini E, Deparis AA, Watrin F, Buhler E, Novara F, Lise S, Pagnamenta AT, Kini U, Taylor JC, Zuffardi O, Represa A, Keays DA, Guerrini R, Falace A, Cardoso C.

J Vis Exp. 2017 Dec 1;(130). doi: 10.3791/53570.

PMID:
29286390
9.

Subcellular analysis of pigeon hair cells implicates vesicular trafficking in cuticulosome formation and maintenance.

Nimpf S, Malkemper EP, Lauwers M, Ushakova L, Nordmann G, Wenninger-Weinzierl A, Burkard TR, Jacob S, Heuser T, Resch GP, Keays DA.

Elife. 2017 Nov 15;6. pii: e29959. doi: 10.7554/eLife.29959.

10.

Magnetoreception-A sense without a receptor.

Nordmann GC, Hochstoeger T, Keays DA.

PLoS Biol. 2017 Oct 23;15(10):e2003234. doi: 10.1371/journal.pbio.2003234. eCollection 2017 Oct.

11.

Is magnetogenetics the new optogenetics?

Nimpf S, Keays DA.

EMBO J. 2017 Jun 14;36(12):1643-1646. doi: 10.15252/embj.201797177. Epub 2017 May 23. Review. No abstract available.

12.

Tubulins and brain development - The origins of functional specification.

Breuss MW, Leca I, Gstrein T, Hansen AH, Keays DA.

Mol Cell Neurosci. 2017 Oct;84:58-67. doi: 10.1016/j.mcn.2017.03.002. Epub 2017 Mar 27. Review.

13.

Brain-specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition.

Breuss MW, Hansen AH, Landler L, Keays DA.

Behav Brain Res. 2017 Apr 14;323:47-55. doi: 10.1016/j.bbr.2017.01.029. Epub 2017 Jan 25.

14.

Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.

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.

Hum Mol Genet. 2017 Jan 15;26(2):258-269. doi: 10.1093/hmg/ddw383.

15.

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.

Pagnamenta AT, Howard MF, Knight SJ, Keays DA, Quaghebeur G, Taylor JC, Kini U.

Clin Case Rep. 2016 Aug 23;4(10):952-956. eCollection 2016 Oct.

16.

De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation.

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.

Cell Rep. 2016 Jun 7;15(10):2251-2265. doi: 10.1016/j.celrep.2016.04.090. Epub 2016 May 26.

17.

A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

Lange L, Pagnamenta AT, Lise S, Clasper S, Stewart H, Akha ES, Quaghebeur G, Knight SJ, Keays DA, Taylor JC, Kini U.

Clin Genet. 2016 Sep;90(3):258-62. doi: 10.1111/cge.12773. Epub 2016 Apr 1.

18.

Mutations in the murine homologue of TUBB5 cause microcephaly by perturbing cell cycle progression and inducing p53-associated apoptosis.

Breuss M, Fritz T, Gstrein T, Chan K, Ushakova L, Yu N, Vonberg FW, Werner B, Elling U, Keays DA.

Development. 2016 Apr 1;143(7):1126-33. doi: 10.1242/dev.131516. Epub 2016 Feb 22.

19.

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

Isrie M, 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.

Am J Hum Genet. 2015 Dec 3;97(6):790-800. doi: 10.1016/j.ajhg.2015.10.014.

20.

Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes.

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, Tuy FP, Chelly J, Morris HD, Riegler J, Lythgoe MF, Arkell RM, Loreni F, Flint J, Pavan WJ, Keays DA.

PLoS Genet. 2015 Nov 19;11(11):e1005682. doi: 10.1371/journal.pgen.1005682. eCollection 2015 Nov. No abstract available.

21.

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.

Ilkovski 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.

Hum Mol Genet. 2015 Nov 1;24(21):6146-59. doi: 10.1093/hmg/ddv331. Epub 2015 Aug 20.

22.

The Expression of Tubb2b Undergoes a Developmental Transition in Murine Cortical Neurons.

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.

J Comp Neurol. 2015 Oct 15;523(15):2161-86. doi: 10.1002/cne.23836. Epub 2015 Aug 11.

PMID:
26105993
23.

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Pagnamenta AT, Howard MF, Wisniewski E, Popitsch N, Knight SJ, Keays DA, Quaghebeur G, Cox H, Cox P, Balla T, Taylor JC, Kini U.

Hum Mol Genet. 2015 Jul 1;24(13):3732-41. doi: 10.1093/hmg/ddv117. Epub 2015 Apr 8.

24.

No evidence for intracellular magnetite in putative vertebrate magnetoreceptors identified by magnetic screening.

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.

Proc Natl Acad Sci U S A. 2015 Jan 6;112(1):262-7. doi: 10.1073/pnas.1407915112. Epub 2014 Dec 22.

25.

TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons.

Ngo L, Haas M, Qu Z, Li SS, Zenker J, Teng KS, Gunnersen JM, Breuss M, Habgood M, Keays DA, Heng JI.

Hum Mol Genet. 2014 Oct 1;23(19):5147-58. doi: 10.1093/hmg/ddu238. Epub 2014 May 15.

PMID:
24833723
26.

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

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.

Am J Hum Genet. 2014 Feb 6;94(2):278-87. doi: 10.1016/j.ajhg.2013.12.012. Epub 2014 Jan 16.

27.

Microtubules and neurodevelopmental disease: the movers and the makers.

Breuss M, Keays DA.

Adv Exp Med Biol. 2014;800:75-96. doi: 10.1007/978-94-007-7687-6_5. Review.

PMID:
24243101
28.

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

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.

Brain. 2013 Nov;136(Pt 11):3378-94. doi: 10.1093/brain/awt249. Epub 2013 Sep 20.

PMID:
24056535
29.

High resolution anatomical mapping confirms the absence of a magnetic sense system in the rostral upper beak of pigeons.

Treiber CD, Salzer M, Breuss M, Ushakova L, Lauwers M, Edelman N, Keays DA.

Commun Integr Biol. 2013 Jul 1;6(4):e24859. doi: 10.4161/cib.24859. Epub 2013 May 10.

30.

An iron-rich organelle in the cuticular plate of avian hair cells.

Lauwers M, Pichler P, Edelman NB, Resch GP, Ushakova L, Salzer MC, Heyers D, Saunders M, Shaw J, Keays DA.

Curr Biol. 2013 May 20;23(10):924-9. doi: 10.1016/j.cub.2013.04.025. Epub 2013 Apr 25.

31.

Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.

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.

PLoS Genet. 2013;9(1):e1003094. doi: 10.1371/journal.pgen.1003094. Epub 2013 Jan 31. Erratum in: PLoS Genet. 2015 Nov;11(11):e1005682.

32.

Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.

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.

Cell Rep. 2012 Dec 27;2(6):1554-62. doi: 10.1016/j.celrep.2012.11.017. Epub 2012 Dec 13.

33.

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.

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.

Am J Med Genet A. 2012 Oct;158A(10):2577-82. doi: 10.1002/ajmg.a.35558. Epub 2012 Aug 10.

34.

Clusters of iron-rich cells in the upper beak of pigeons are macrophages not magnetosensitive neurons.

Treiber CD, Salzer MC, Riegler J, Edelman N, Sugar C, Breuss M, Pichler P, Cadiou H, Saunders M, Lythgoe M, Shaw J, Keays DA.

Nature. 2012 Apr 11;484(7394):367-70. doi: 10.1038/nature11046.

PMID:
22495303
35.

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.

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.

J Hum Genet. 2012 Jan;57(1):70-2. doi: 10.1038/jhg.2011.128. Epub 2011 Dec 1.

PMID:
22129557
36.

Cytoarchitectural disruption of the superior colliculus and an enlarged acoustic startle response in the Tuba1a mutant mouse.

Edwards A, Treiber CD, Breuss M, Pidsley R, Huang GJ, Cleak J, Oliver PL, Flint J, Keays DA.

Neuroscience. 2011 Nov 10;195:191-200. doi: 10.1016/j.neuroscience.2011.08.035. Epub 2011 Aug 22.

37.

EMCD real space maps of Magnetospirillum magnetotacticum.

Stöger-Pollach M, Treiber CD, Resch GP, Keays DA, Ennen I.

Micron. 2011 Jul;42(5):456-60. doi: 10.1016/j.micron.2011.01.003. Epub 2011 Jan 25.

PMID:
21316249
38.

The role of Tuba1a in adult hippocampal neurogenesis and the formation of the dentate gyrus.

Keays DA, Cleak J, Huang GJ, Edwards A, Braun A, Treiber CD, Pidsley R, Flint J.

Dev Neurosci. 2010;32(4):268-77. doi: 10.1159/000319663. Epub 2010 Oct 30.

39.

Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.

Tian G, Jaglin XH, Keays DA, Francis F, Chelly J, Cowan NJ.

Hum Mol Genet. 2010 Sep 15;19(18):3599-613. doi: 10.1093/hmg/ddq276. Epub 2010 Jul 5.

40.

Tuba8 is expressed at low levels in the developing mouse and human brain.

Braun A, Breuss M, Salzer MC, Flint J, Cowan NJ, Keays DA.

Am J Hum Genet. 2010 May 14;86(5):819-22; author reply 822-3. doi: 10.1016/j.ajhg.2010.03.019. No abstract available.

41.

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.

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.

Nat Genet. 2009 Jun;41(6):746-52. doi: 10.1038/ng.380. Epub 2009 May 24.

42.

Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits.

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.

Curr Biol. 2008 Mar 11;18(5):354-62. doi: 10.1016/j.cub.2008.01.060.

43.

Neuronal migration: unraveling the molecular pathway with humans, mice, and a fungus.

Keays DA.

Mamm Genome. 2007 Jul;18(6-7):425-30. Epub 2007 Jul 15. Review.

44.

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

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.

Hum Mutat. 2007 Nov;28(11):1055-64.

PMID:
17584854
45.

Behavioural characterisation of the robotic mouse mutant.

Oliver PL, Keays DA, Davies KE.

Behav Brain Res. 2007 Aug 6;181(2):239-47. Epub 2007 Apr 24.

PMID:
17532061
46.

Estimating the number of coding mutations in genotypic and phenotypic driven N-ethyl-N-nitrosourea (ENU) screens: revisited.

Keays DA, Clark TG, Campbell TG, Broxholme J, Valdar W.

Mamm Genome. 2007 Feb;18(2):123-4. Epub 2007 Mar 8.

PMID:
17347895
47.

Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.

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.

Cell. 2007 Jan 12;128(1):45-57.

48.

Estimating the number of coding mutations in genotypic- and phenotypic-driven N-ethyl-N-nitrosourea (ENU) screens.

Keays DA, Clark TG, Flint J.

Mamm Genome. 2006 Mar;17(3):230-8. Epub 2006 Mar 3.

PMID:
16518690
49.

New semidominant mutations that affect mouse development.

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.

Genesis. 2004 Oct;40(2):109-117.

PMID:
15384171
50.

Unexpected complexity in the haplotypes of commonly used inbred strains of laboratory mice.

Yalcin B, Fullerton J, Miller S, Keays DA, Brady S, Bhomra A, Jefferson A, Volpi E, Copley RR, Flint J, Mott R.

Proc Natl Acad Sci U S A. 2004 Jun 29;101(26):9734-9. Epub 2004 Jun 21.

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