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Items: 1 to 50 of 309

1.

The phenotypic spectrum of Xia-Gibbs syndrome.

Jiang Y, Wangler MF, McGuire AL, Lupski JR, Posey JE, Khayat MM, Murdock DR, Sanchez-Pulido L, Ponting CP, Xia F, Hunter JV, Meng Q, Murugan M, Gibbs RA.

Am J Med Genet A. 2018 Jun;176(6):1315-1326. doi: 10.1002/ajmg.a.38699. Epub 2018 Apr 25.

PMID:
29696776
2.

The long non-coding RNA Paupar promotes KAP1-dependent chromatin changes and regulates olfactory bulb neurogenesis.

Pavlaki I, Alammari F, Sun B, Clark N, Sirey T, Lee S, Woodcock DJ, Ponting CP, Szele FG, Vance KW.

EMBO J. 2018 May 15;37(10). pii: e98219. doi: 10.15252/embj.201798219. Epub 2018 Apr 16.

3.

Complexities of post-transcriptional regulation and the modeling of ceRNA crosstalk.

Smillie CL, Sirey T, Ponting CP.

Crit Rev Biochem Mol Biol. 2018 Jun;53(3):231-245. doi: 10.1080/10409238.2018.1447542. Epub 2018 Mar 23.

4.

The Human Cell Atlas.

Regev A, Teichmann SA, Lander ES, Amit I, Benoist C, Birney E, Bodenmiller B, Campbell P, Carninci P, Clatworthy M, Clevers H, Deplancke B, Dunham I, Eberwine J, Eils R, Enard W, Farmer A, Fugger L, Göttgens B, Hacohen N, Haniffa M, Hemberg M, Kim S, Klenerman P, Kriegstein A, Lein E, Linnarsson S, Lundberg E, Lundeberg J, Majumder P, Marioni JC, Merad M, Mhlanga M, Nawijn M, Netea M, Nolan G, Pe'er D, Phillipakis A, Ponting CP, Quake S, Reik W, Rozenblatt-Rosen O, Sanes J, Satija R, Schumacher TN, Shalek A, Shapiro E, Sharma P, Shin JW, Stegle O, Stratton M, Stubbington MJT, Theis FJ, Uhlen M, van Oudenaarden A, Wagner A, Watt F, Weissman J, Wold B, Xavier R, Yosef N; Human Cell Atlas Meeting Participants.

Elife. 2017 Dec 5;6. pii: e27041. doi: 10.7554/eLife.27041.

5.

TMEM132: an ancient architecture of cohesin and immunoglobulin domains define a new family of neural adhesion molecules.

Sanchez-Pulido L, Ponting CP.

Bioinformatics. 2018 Mar 1;34(5):721-724. doi: 10.1093/bioinformatics/btx689.

6.

Biological function in the twilight zone of sequence conservation.

Ponting CP.

BMC Biol. 2017 Aug 16;15(1):71. doi: 10.1186/s12915-017-0411-5. Review.

7.

ELIXIR-UK role in bioinformatics training at the national level and across ELIXIR.

Larcombe L, Hendricusdottir R, Attwood TK, Bacall F, Beard N, Bellis LJ, Dunn WB, Hancock JM, Nenadic A, Orengo C, Overduin B, Sansone SA, Thurston M, Viant MR, Winder CL, Goble CA, Ponting CP, Rustici G.

F1000Res. 2017 Jun 21;6. pii: ELIXIR-952. doi: 10.12688/f1000research.11837.1. eCollection 2017.

8.

An open and transparent process to select ELIXIR Node Services as implemented by ELIXIR-UK.

Hancock JM, Game A, Ponting CP, Goble CA.

Version 2. F1000Res. 2016 Dec 21 [revised 2017 Jan 1];5. pii: ELIXIR-2894. doi: 10.12688/f1000research.10473.2. eCollection 2016.

9.

Identification of genetic variants affecting vitamin D receptor binding and associations with autoimmune disease.

Gallone G, Haerty W, Disanto G, Ramagopalan SV, Ponting CP, Berlanga-Taylor AJ.

Hum Mol Genet. 2017 Jun 1;26(11):2164-2176. doi: 10.1093/hmg/ddx092.

10.

Whole-exome sequencing of 228 patients with sporadic Parkinson's disease.

Sandor C, Honti F, Haerty W, Szewczyk-Krolikowski K, Tomlinson P, Evetts S, Millin S, Keane T, McCarthy SA, Durbin R, Talbot K, Hu M, Webber C, Ponting CP, Wade-Martins R.

Sci Rep. 2017 Jan 24;7:41188. doi: 10.1038/srep41188.

11.

Single-Cell Multiomics: Multiple Measurements from Single Cells.

Macaulay IC, Ponting CP, Voet T.

Trends Genet. 2017 Feb;33(2):155-168. doi: 10.1016/j.tig.2016.12.003. Epub 2017 Jan 13. Review.

12.

Functional RNA classes: a matter of time?

Bedoya-Reina OC, Ponting CP.

Nat Struct Mol Biol. 2017 Jan 5;24(1):7-8. doi: 10.1038/nsmb.3354. No abstract available.

PMID:
28054565
13.

Insights into the post-transcriptional regulation of the mitochondrial electron transport chain.

Sirey TM, Ponting CP.

Biochem Soc Trans. 2016 Oct 15;44(5):1491-1498. Review.

14.

Most brain disease-associated and eQTL haplotypes are not located within transcription factor DNase-seq footprints in brain.

Handel AE, Gallone G, Zameel Cader M, Ponting CP.

Hum Mol Genet. 2017 Jan 1;26(1):79-89. doi: 10.1093/hmg/ddw369.

15.

Separation and parallel sequencing of the genomes and transcriptomes of single cells using G&T-seq.

Macaulay IC, Teng MJ, Haerty W, Kumar P, Ponting CP, Voet T.

Nat Protoc. 2016 Nov;11(11):2081-103. doi: 10.1038/nprot.2016.138. Epub 2016 Sep 29.

PMID:
27685099
16.

The role of ADP-ribosylation in regulating DNA interstrand crosslink repair.

Gunn AR, Banos-Pinero B, Paschke P, Sanchez-Pulido L, Ariza A, Day J, Emrich M, Leys D, Ponting CP, Ahel I, Lakin ND.

J Cell Sci. 2016 Oct 15;129(20):3845-3858. Epub 2016 Sep 1.

17.

Foxn1 regulates key target genes essential for T cell development in postnatal thymic epithelial cells.

Žuklys S, Handel A, Zhanybekova S, Govani F, Keller M, Maio S, Mayer CE, Teh HY, Hafen K, Gallone G, Barthlott T, Ponting CP, Holländer GA.

Nat Immunol. 2016 Oct;17(10):1206-1215. doi: 10.1038/ni.3537. Epub 2016 Aug 22.

18.

Tuning the Transcriptional Response to Hypoxia by Inhibiting Hypoxia-inducible Factor (HIF) Prolyl and Asparaginyl Hydroxylases.

Chan MC, Ilott NE, Schödel J, Sims D, Tumber A, Lippl K, Mole DR, Pugh CW, Ratcliffe PJ, Ponting CP, Schofield CJ.

J Biol Chem. 2016 Sep 23;291(39):20661-73. doi: 10.1074/jbc.M116.749291. Epub 2016 Aug 8.

19.

Long noncoding RNAs in B-cell development and activation.

Brazão TF, Johnson JS, Müller J, Heger A, Ponting CP, Tybulewicz VL.

Blood. 2016 Aug 18;128(7):e10-9. doi: 10.1182/blood-2015-11-680843. Epub 2016 Jul 5.

20.

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C; WGS500 Consortium, Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS.

Am J Hum Genet. 2016 Jul 7;99(1):125-38. doi: 10.1016/j.ajhg.2016.05.019. Epub 2016 Jun 30.

21.

Identification of molecular signatures specific for distinct cranial sensory ganglia in the developing chick.

Patthey C, Clifford H, Haerty W, Ponting CP, Shimeld SM, Begbie J.

Neural Dev. 2016 Jan 27;11:3. doi: 10.1186/s13064-016-0057-y.

22.

Vasohibins: new transglutaminase-like cysteine proteases possessing a non-canonical Cys-His-Ser catalytic triad.

Sanchez-Pulido L, Ponting CP.

Bioinformatics. 2016 May 15;32(10):1441-5. doi: 10.1093/bioinformatics/btv761. Epub 2016 Jan 21.

23.

Parallel single-cell sequencing links transcriptional and epigenetic heterogeneity.

Angermueller C, Clark SJ, Lee HJ, Macaulay IC, Teng MJ, Hu TX, Krueger F, Smallwood S, Ponting CP, Voet T, Kelsey G, Stegle O, Reik W.

Nat Methods. 2016 Mar;13(3):229-232. doi: 10.1038/nmeth.3728. Epub 2016 Jan 11.

24.

Assessing similarity to primary tissue and cortical layer identity in induced pluripotent stem cell-derived cortical neurons through single-cell transcriptomics.

Handel AE, Chintawar S, Lalic T, Whiteley E, Vowles J, Giustacchini A, Argoud K, Sopp P, Nakanishi M, Bowden R, Cowley S, Newey S, Akerman C, Ponting CP, Cader MZ.

Hum Mol Genet. 2016 Mar 1;25(5):989-1000. doi: 10.1093/hmg/ddv637. Epub 2016 Jan 5.

25.

Dynamic spatio-temporal contribution of single β5t+ cortical epithelial precursors to the thymus medulla.

Mayer CE, Žuklys S, Zhanybekova S, Ohigashi I, Teh HY, Sansom SN, Shikama-Dorn N, Hafen K, Macaulay IC, Deadman ME, Ponting CP, Takahama Y, Holländer GA.

Eur J Immunol. 2016 Apr;46(4):846-56. doi: 10.1002/eji.201545995. Epub 2016 Jan 18.

26.

Temporal transcriptomics suggest that twin-peaking genes reset the clock.

Pembroke WG, Babbs A, Davies KE, Ponting CP, Oliver PL.

Elife. 2015 Nov 2;4. pii: e10518. doi: 10.7554/eLife.10518.

27.

REC-1 and HIM-5 distribute meiotic crossovers and function redundantly in meiotic double-strand break formation in Caenorhabditis elegans.

Chung G, Rose AM, Petalcorin MI, Martin JS, Kessler Z, Sanchez-Pulido L, Ponting CP, Yanowitz JL, Boulton SJ.

Genes Dev. 2015 Sep 15;29(18):1969-79. doi: 10.1101/gad.266056.115.

28.

Corrigendum: Extensive microRNA-mediated crosstalk between lncRNAs and mRNAs in mouse embryonic stem cells.

Tan JY, Sirey T, Honti F, Graham B, Piovesan A, Merkenschlager M, Webber C, Ponting CP, Marques AC.

Genome Res. 2015 Sep;25(9):1410.1. No abstract available.

29.

Combined Single-Cell Functional and Gene Expression Analysis Resolves Heterogeneity within Stem Cell Populations.

Wilson NK, Kent DG, Buettner F, Shehata M, Macaulay IC, Calero-Nieto FJ, Sánchez Castillo M, Oedekoven CA, Diamanti E, Schulte R, Ponting CP, Voet T, Caldas C, Stingl J, Green AR, Theis FJ, Göttgens B.

Cell Stem Cell. 2015 Jun 4;16(6):712-24. doi: 10.1016/j.stem.2015.04.004. Epub 2015 May 21.

30.

Microglia recapitulate a hematopoietic master regulator network in the aging human frontal cortex.

Wehrspaun CC, Haerty W, Ponting CP.

Neurobiol Aging. 2015 Aug;36(8):2443.e9-2443.e20. doi: 10.1016/j.neurobiolaging.2015.04.008. Epub 2015 Apr 25. Review.

31.

CGAT: a model for immersive personalized training in computational genomics.

Sims D, Ponting CP, Heger A.

Brief Funct Genomics. 2016 Jan;15(1):32-7. doi: 10.1093/bfgp/elv021. Epub 2015 May 16. Review.

32.

G&T-seq: parallel sequencing of single-cell genomes and transcriptomes.

Macaulay IC, Haerty W, Kumar P, Li YI, Hu TX, Teng MJ, Goolam M, Saurat N, Coupland P, Shirley LM, Smith M, Van der Aa N, Banerjee R, Ellis PD, Quail MA, Swerdlow HP, Zernicka-Goetz M, Livesey FJ, Ponting CP, Voet T.

Nat Methods. 2015 Jun;12(6):519-22. doi: 10.1038/nmeth.3370. Epub 2015 Apr 27.

PMID:
25915121
33.

Extensive microRNA-mediated crosstalk between lncRNAs and mRNAs in mouse embryonic stem cells.

Tan JY, Sirey T, Honti F, Graham B, Piovesan A, Merkenschlager M, Webber C, Ponting CP, Marques AC.

Genome Res. 2015 May;25(5):655-66. doi: 10.1101/gr.181974.114. Epub 2015 Mar 19. Erratum in: Genome Res. 2015 Sep;25(9):1410.1.

34.

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

Wassif CA, Cross JL, Iben J, Sanchez-Pulido L, Cougnoux A, Platt FM, Ory DS, Ponting CP, Bailey-Wilson JE, Biesecker LG, Porter FD.

Genet Med. 2016 Jan;18(1):41-8. doi: 10.1038/gim.2015.25. Epub 2015 Mar 12.

35.

Corrigendum: Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7.

Tan JY, Vance KW, Varela MA, Sirey T, Watson LM, Curtis HJ, Marinello M, Alves S, Steinkraus BR, Cooper S, Nesterova T, Brockdorff N, Fulga TA, Brice A, Sittler A, Oliver PL, Wood MJ, Ponting CP, Marques AC.

Nat Struct Mol Biol. 2015 Mar;22(3):272. doi: 10.1038/nsmb0315-272b. No abstract available.

PMID:
25736092
36.

Two Antarctic penguin genomes reveal insights into their evolutionary history and molecular changes related to the Antarctic environment.

Li C, Zhang Y, Li J, Kong L, Hu H, Pan H, Xu L, Deng Y, Li Q, Jin L, Yu H, Chen Y, Liu B, Yang L, Liu S, Zhang Y, Lang Y, Xia J, He W, Shi Q, Subramanian S, Millar CD, Meader S, Rands CM, Fujita MK, Greenwold MJ, Castoe TA, Pollock DD, Gu W, Nam K, Ellegren H, Ho SY, Burt DW, Ponting CP, Jarvis ED, Gilbert MT, Yang H, Wang J, Lambert DM, Wang J, Zhang G.

Gigascience. 2014 Dec 12;3(1):27. doi: 10.1186/2047-217X-3-27. eCollection 2014.

38.

TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease.

Sanchez-Pulido L, Ponting CP.

Front Genet. 2014 Dec 11;5:439. doi: 10.3389/fgene.2014.00439. eCollection 2014.

39.

RBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcripts.

Li YI, Sanchez-Pulido L, Haerty W, Ponting CP.

Genome Res. 2015 Jan;25(1):1-13. doi: 10.1101/gr.181990.114.

40.

Identification of a candidate prognostic gene signature by transcriptome analysis of matched pre- and post-treatment prostatic biopsies from patients with advanced prostate cancer.

Rajan P, Stockley J, Sudbery IM, Fleming JT, Hedley A, Kalna G, Sims D, Ponting CP, Heger A, Robson CN, McMenemin RM, Pedley ID, Leung HY.

BMC Cancer. 2014 Dec 18;14:977. doi: 10.1186/1471-2407-14-977.

41.

The RNA-editing enzyme ADAR1 controls innate immune responses to RNA.

Mannion NM, Greenwood SM, Young R, Cox S, Brindle J, Read D, Nellåker C, Vesely C, Ponting CP, McLaughlin PJ, Jantsch MF, Dorin J, Adams IR, Scadden AD, Ohman M, Keegan LP, O'Connell MA.

Cell Rep. 2014 Nov 20;9(4):1482-94. doi: 10.1016/j.celrep.2014.10.041. Epub 2014 Nov 13.

42.

The long non-coding RNA Dali is an epigenetic regulator of neural differentiation.

Chalei V, Sansom SN, Kong L, Lee S, Montiel JF, Vance KW, Ponting CP.

Elife. 2014 Nov 21;3:e04530. doi: 10.7554/eLife.04530.

43.

Violation of the 12/23 rule of genomic V(D)J recombination is common in lymphocytes.

Parkinson NJ, Roddis M, Ferneyhough B, Zhang G, Marsden AJ, Maslau S, Sanchez-Pearson Y, Barthlott T, Humphreys IR, Ladell K, Price DA, Ponting CP, Hollander G, Fischer MD.

Genome Res. 2015 Feb;25(2):226-34. doi: 10.1101/gr.179770.114. Epub 2014 Nov 3.

44.

Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7.

Tan JY, Vance KW, Varela MA, Sirey T, Watson LM, Curtis HJ, Marinello M, Alves S, Steinkraus B, Cooper S, Nesterova T, Brockdorff N, Fulga T, Brice A, Sittler A, Oliver PL, Wood MJ, Ponting CP, Marques AC.

Nat Struct Mol Biol. 2014 Nov;21(11):955-961. doi: 10.1038/nsmb.2902. Epub 2014 Oct 12. Erratum in: Nat Struct Mol Biol. 2015 Mar;22(3):272.

45.

Population and single-cell genomics reveal the Aire dependency, relief from Polycomb silencing, and distribution of self-antigen expression in thymic epithelia.

Sansom SN, Shikama-Dorn N, Zhanybekova S, Nusspaumer G, Macaulay IC, Deadman ME, Heger A, Ponting CP, Holländer GA.

Genome Res. 2014 Dec;24(12):1918-31. doi: 10.1101/gr.171645.113. Epub 2014 Sep 15.

46.

Disruption of Visc-2, a Brain-Expressed Conserved Long Noncoding RNA, Does Not Elicit an Overt Anatomical or Behavioral Phenotype.

Oliver PL, Chodroff RA, Gosal A, Edwards B, Cheung AF, Gomez-Rodriguez J, Elliot G, Garrett LJ, Lickiss T, Szele F, Green ED, Molnár Z, Ponting CP.

Cereb Cortex. 2015 Oct;25(10):3572-85. doi: 10.1093/cercor/bhu196. Epub 2014 Sep 10.

47.

The genomic substrate for adaptive radiation in African cichlid fish.

Brawand D, Wagner CE, Li YI, Malinsky M, Keller I, Fan S, Simakov O, Ng AY, Lim ZW, Bezault E, Turner-Maier J, Johnson J, Alcazar R, Noh HJ, Russell P, Aken B, Alföldi J, Amemiya C, Azzouzi N, Baroiller JF, Barloy-Hubler F, Berlin A, Bloomquist R, Carleton KL, Conte MA, D'Cotta H, Eshel O, Gaffney L, Galibert F, Gante HF, Gnerre S, Greuter L, Guyon R, Haddad NS, Haerty W, Harris RM, Hofmann HA, Hourlier T, Hulata G, Jaffe DB, Lara M, Lee AP, MacCallum I, Mwaiko S, Nikaido M, Nishihara H, Ozouf-Costaz C, Penman DJ, Przybylski D, Rakotomanga M, Renn SCP, Ribeiro FJ, Ron M, Salzburger W, Sanchez-Pulido L, Santos ME, Searle S, Sharpe T, Swofford R, Tan FJ, Williams L, Young S, Yin S, Okada N, Kocher TD, Miska EA, Lander ES, Venkatesh B, Fernald RD, Meyer A, Ponting CP, Streelman JT, Lindblad-Toh K, Seehausen O, Di Palma F.

Nature. 2014 Sep 18;513(7518):375-381. doi: 10.1038/nature13726. Epub 2014 Sep 3.

48.

Understanding functional miRNA-target interactions in vivo by site-specific genome engineering.

Bassett AR, Azzam G, Wheatley L, Tibbit C, Rajakumar T, McGowan S, Stanger N, Ewels PA, Taylor S, Ponting CP, Liu JL, Sauka-Spengler T, Fulga TA.

Nat Commun. 2014 Aug 19;5:4640. doi: 10.1038/ncomms5640.

49.

Considerations when investigating lncRNA function in vivo.

Bassett AR, Akhtar A, Barlow DP, Bird AP, Brockdorff N, Duboule D, Ephrussi A, Ferguson-Smith AC, Gingeras TR, Haerty W, Higgs DR, Miska EA, Ponting CP.

Elife. 2014 Aug 14;3:e03058. doi: 10.7554/eLife.03058. Review.

50.

The RFTS domain of Raf2 is required for Cul4 interaction and heterochromatin integrity in fission yeast.

White SA, Buscaino A, Sanchez-Pulido L, Ponting CP, Nowicki MW, Allshire RC.

PLoS One. 2014 Aug 4;9(8):e104161. doi: 10.1371/journal.pone.0104161. eCollection 2014.

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