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Items: 1 to 50 of 70

1.

BATLAS: Deconvoluting Brown Adipose Tissue.

Perdikari A, Leparc GG, Balaz M, Pires ND, Lidell ME, Sun W, Fernandez-Albert F, Müller S, Akchiche N, Dong H, Balazova L, Opitz L, Röder E, Klein H, Stefanicka P, Varga L, Nuutila P, Virtanen KA, Niemi T, Taittonen M, Rudofsky G, Ukropec J, Enerbäck S, Stupka E, Neubauer H, Wolfrum C.

Cell Rep. 2018 Oct 16;25(3):784-797.e4. doi: 10.1016/j.celrep.2018.09.044.

2.

Oligodendrocyte gene expression is reduced by and influences effects of chronic social stress in mice.

Cathomas F, Azzinnari D, Bergamini G, Sigrist H, Buerge M, Hoop V, Wicki B, Goetze L, Soares S, Kukelova D, Seifritz E, Goebbels S, Nave KA, Ghandour MS, Seoighe C, Hildebrandt T, Leparc G, Klein H, Stupka E, Hengerer B, Pryce CR.

Genes Brain Behav. 2018 Mar 22:e12475. doi: 10.1111/gbb.12475. [Epub ahead of print]

PMID:
29566304
3.

An RNA-Seq atlas of gene expression in mouse and rat normal tissues.

Söllner JF, Leparc G, Hildebrandt T, Klein H, Thomas L, Stupka E, Simon E.

Sci Data. 2017 Dec 12;4:170185. doi: 10.1038/sdata.2017.185.

4.

Lentiviral vectors escape innate sensing but trigger p53 in human hematopoietic stem and progenitor cells.

Piras F, Riba M, Petrillo C, Lazarevic D, Cuccovillo I, Bartolaccini S, Stupka E, Gentner B, Cittaro D, Naldini L, Kajaste-Rudnitski A.

EMBO Mol Med. 2017 Sep;9(9):1198-1211. doi: 10.15252/emmm.201707922.

5.

miR-17∼92 family clusters control iNKT cell ontogenesis via modulation of TGF-β signaling.

Fedeli M, Riba M, Garcia Manteiga JM, Tian L, Viganò V, Rossetti G, Pagani M, Xiao C, Liston A, Stupka E, Cittaro D, Abrignani S, Provero P, Dellabona P, Casorati G.

Proc Natl Acad Sci U S A. 2016 Dec 20;113(51):E8286-E8295. doi: 10.1073/pnas.1612024114. Epub 2016 Dec 5.

6.

Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection.

Brigida I, Chiriaco M, Di Cesare S, Cittaro D, Di Matteo G, Giannelli S, Lazarevic D, Zoccolillo M, Stupka E, Jenkner A, Francalanci P, Livadiotti S, Morawski A, Ravell J, Lenardo M, Cancrini C, Aiuti A, Finocchi A.

J Clin Immunol. 2017 Jan;37(1):32-35. doi: 10.1007/s10875-016-0341-y. Epub 2016 Oct 21. No abstract available.

7.

Histone Modifications in a Mouse Model of Early Adversities and Panic Disorder: Role for Asic1 and Neurodevelopmental Genes.

Cittaro D, Lampis V, Luchetti A, Coccurello R, Guffanti A, Felsani A, Moles A, Stupka E, D' Amato FR, Battaglia M.

Sci Rep. 2016 Apr 28;6:25131. doi: 10.1038/srep25131.

8.

Revealing the acute asthma ignorome: characterization and validation of uninvestigated gene networks.

Riba M, Garcia Manteiga JM, Bošnjak B, Cittaro D, Mikolka P, Le C, Epstein MM, Stupka E.

Sci Rep. 2016 Apr 21;6:24647. doi: 10.1038/srep24647.

9.

The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment.

Chiriaco M, Brigida I, Ariganello P, Di Cesare S, Di Matteo G, Taus F, Cittaro D, Lazarevic D, Scarselli A, Santilli V, Attardi E, Stupka E, Giannelli S, Fraziano M, Finocchi A, Rossi P, Aiuti A, Palma P, Cancrini C.

Clin Immunol. 2017 May;178:20-28. doi: 10.1016/j.clim.2015.12.008. Epub 2015 Dec 28.

PMID:
26732860
10.

REST-Governed Gene Expression Profiling in a Neuronal Cell Model Reveals Novel Direct and Indirect Processes of Repression and Up-Regulation.

Garcia-Manteiga JM, Bonfiglio S, Folladori L, Malosio ML, Lazarevic D, Stupka E, Cittaro D, Meldolesi J.

Front Cell Neurosci. 2015 Nov 10;9:438. doi: 10.3389/fncel.2015.00438. eCollection 2015.

11.

Epigenomics of Neural Cells: REST-Induced Down- and Upregulation of Gene Expression in a Two-Clone PC12 Cell Model.

Garcia-Manteiga JM, Bonfiglio S, Malosio ML, Lazarevic D, Stupka E, Cittaro D, Meldolesi J.

Biomed Res Int. 2015;2015:202914. doi: 10.1155/2015/202914. Epub 2015 Aug 27.

12.

Impact of MS genetic loci on familial aggregation, clinical phenotype, and disease prediction.

Esposito F, Guaschino C, Sorosina M, Clarelli F, Ferre' L, Mascia E, Santoro S, Pagnesi M, Radaelli M, Colombo B, Moiola L, Rodegher M, Stupka E, Martinelli V, Comi G, Martinelli Boneschi F.

Neurol Neuroimmunol Neuroinflamm. 2015 Jul 9;2(4):e129. doi: 10.1212/NXI.0000000000000129. eCollection 2015 Aug.

13.

The BioMart community portal: an innovative alternative to large, centralized data repositories.

Smedley D, Haider S, Durinck S, Pandini L, Provero P, Allen J, Arnaiz O, Awedh MH, Baldock R, Barbiera G, Bardou P, Beck T, Blake A, Bonierbale M, Brookes AJ, Bucci G, Buetti I, Burge S, Cabau C, Carlson JW, Chelala C, Chrysostomou C, Cittaro D, Collin O, Cordova R, Cutts RJ, Dassi E, Di Genova A, Djari A, Esposito A, Estrella H, Eyras E, Fernandez-Banet J, Forbes S, Free RC, Fujisawa T, Gadaleta E, Garcia-Manteiga JM, Goodstein D, Gray K, Guerra-Assunção JA, Haggarty B, Han DJ, Han BW, Harris T, Harshbarger J, Hastings RK, Hayes RD, Hoede C, Hu S, Hu ZL, Hutchins L, Kan Z, Kawaji H, Keliet A, Kerhornou A, Kim S, Kinsella R, Klopp C, Kong L, Lawson D, Lazarevic D, Lee JH, Letellier T, Li CY, Lio P, Liu CJ, Luo J, Maass A, Mariette J, Maurel T, Merella S, Mohamed AM, Moreews F, Nabihoudine I, Ndegwa N, Noirot C, Perez-Llamas C, Primig M, Quattrone A, Quesneville H, Rambaldi D, Reecy J, Riba M, Rosanoff S, Saddiq AA, Salas E, Sallou O, Shepherd R, Simon R, Sperling L, Spooner W, Staines DM, Steinbach D, Stone K, Stupka E, Teague JW, Dayem Ullah AZ, Wang J, Ware D, Wong-Erasmus M, Youens-Clark K, Zadissa A, Zhang SJ, Kasprzyk A.

Nucleic Acids Res. 2015 Jul 1;43(W1):W589-98. doi: 10.1093/nar/gkv350. Epub 2015 Apr 20.

14.

Epigenetics and Future Generations.

Del Savio L, Loi M, Stupka E.

Bioethics. 2015 Oct;29(8):580-7. doi: 10.1111/bioe.12150. Epub 2015 Feb 3.

PMID:
25644664
15.

Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study.

Carrera P, Di Resta C, Volonteri C, Castiglioni E, Bonfiglio S, Lazarevic D, Cittaro D, Stupka E, Ferrari M, Somaschini M; BPD and Genetics Study Group.

Clin Chim Acta. 2015 Dec 7;451(Pt A):39-45. doi: 10.1016/j.cca.2015.01.001. Epub 2015 Jan 8.

PMID:
25578394
16.

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.

Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL.

J Med Genet. 2015 Mar;52(3):147-56. doi: 10.1136/jmedgenet-2014-102691. Epub 2015 Jan 6. Erratum in: J Med Genet. 2016 Oct 13;:.

17.

VISPA: a computational pipeline for the identification and analysis of genomic vector integration sites.

Calabria A, Leo S, Benedicenti F, Cesana D, Spinozzi G, Orsini M, Merella S, Stupka E, Zanetti G, Montini E.

Genome Med. 2014 Sep 3;6(9):67. doi: 10.1186/s13073-014-0067-5. eCollection 2014.

18.

The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidance.

Conte I, Merella S, Garcia-Manteiga JM, Migliore C, Lazarevic D, Carrella S, Marco-Ferreres R, Avellino R, Davidson NP, Emmett W, Sanges R, Bockett N, Van Heel D, Meroni G, Bovolenta P, Stupka E, Banfi S.

Nucleic Acids Res. 2014 Jul;42(12):7793-806. doi: 10.1093/nar/gku498. Epub 2014 Jun 3.

19.

Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2.

Perfetti A, Greco S, Fasanaro P, Bugiardini E, Cardani R, Garcia-Manteiga JM, Riba M, Cittaro D, Stupka E, Meola G, Martelli F.

PLoS One. 2014 Apr 10;9(4):e93983. doi: 10.1371/journal.pone.0093983. eCollection 2014. Erratum in: PLoS One. 2014;9(9):e108102. Manteiga, Jose M Garcia [corrected to Garcia-Manteiga, Jose M].

20.

Dissecting the signaling pathways associated with the oncogenic activity of MLK3 P252H mutation.

Velho S, Pinto A, Licastro D, Oliveira MJ, Sousa F, Stupka E, Seruca R.

BMC Cancer. 2014 Mar 14;14:182. doi: 10.1186/1471-2407-14-182.

21.

Targeted transgene integration overcomes variability of position effects in zebrafish.

Roberts JA, Miguel-Escalada I, Slovik KJ, Walsh KT, Hadzhiev Y, Sanges R, Stupka E, Marsh EK, Balciuniene J, Balciunas D, Müller F.

Development. 2014 Feb;141(3):715-24. doi: 10.1242/dev.100347.

22.

Mutation of SALL2 causes recessive ocular coloboma in humans and mice.

Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A, Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Glindzicz M, Liasis A, Lehmann OJ, Kohlhase J, Nischal KK, Sowden JC.

Hum Mol Genet. 2014 May 15;23(10):2511-26. doi: 10.1093/hmg/ddt643. Epub 2014 Jan 9.

23.

Genome-wide methylation and gene expression changes in newborn rats following maternal protein restriction and reversal by folic acid.

Altobelli G, Bogdarina IG, Stupka E, Clark AJ, Langley-Evans S.

PLoS One. 2013 Dec 31;8(12):e82989. doi: 10.1371/journal.pone.0082989. eCollection 2013.

24.

Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma.

Okosun J, Bödör C, Wang J, Araf S, Yang CY, Pan C, Boller S, Cittaro D, Bozek M, Iqbal S, Matthews J, Wrench D, Marzec J, Tawana K, Popov N, O'Riain C, O'Shea D, Carlotti E, Davies A, Lawrie CH, Matolcsy A, Calaminici M, Norton A, Byers RJ, Mein C, Stupka E, Lister TA, Lenz G, Montoto S, Gribben JG, Fan Y, Grosschedl R, Chelala C, Fitzgibbon J.

Nat Genet. 2014 Feb;46(2):176-181. doi: 10.1038/ng.2856. Epub 2013 Dec 22.

25.

Phylogenomic analyses elucidate the evolutionary relationships of bats.

Tsagkogeorga G, Parker J, Stupka E, Cotton JA, Rossiter SJ.

Curr Biol. 2013 Nov 18;23(22):2262-2267. doi: 10.1016/j.cub.2013.09.014. Epub 2013 Oct 31.

26.

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.

Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, McCabe MJ, Kasia T, Kleta R, Stupka E, Beales PL, Thompson DA, Chong WK, Alkuraya FS, Martinez-Barbera JP, Sowden JC, Dattani MT.

Brain. 2013 Oct;136(Pt 10):3096-105. doi: 10.1093/brain/awt218. Epub 2013 Sep 10.

27.

Genome-wide signatures of convergent evolution in echolocating mammals.

Parker J, Tsagkogeorga G, Cotton JA, Liu Y, Provero P, Stupka E, Rossiter SJ.

Nature. 2013 Oct 10;502(7470):228-31. doi: 10.1038/nature12511. Epub 2013 Sep 4.

28.

Dynamic regulation of the transcription initiation landscape at single nucleotide resolution during vertebrate embryogenesis.

Nepal C, Hadzhiev Y, Previti C, Haberle V, Li N, Takahashi H, Suzuki AM, Sheng Y, Abdelhamid RF, Anand S, Gehrig J, Akalin A, Kockx CE, van der Sloot AA, van Ijcken WF, Armant O, Rastegar S, Watson C, Strähle U, Stupka E, Carninci P, Lenhard B, Müller F.

Genome Res. 2013 Nov;23(11):1938-50. doi: 10.1101/gr.153692.112. Epub 2013 Sep 3.

29.

A strong anti-inflammatory signature revealed by liver transcription profiling of Tmprss6-/- mice.

Riba M, Rausa M, Sorosina M, Cittaro D, Garcia Manteiga JM, Nai A, Pagani A, Martinelli-Boneschi F, Stupka E, Camaschella C, Silvestri L.

PLoS One. 2013 Jul 29;8(7):e69694. doi: 10.1371/journal.pone.0069694. Print 2013.

30.

Social Epigenetics and Equality of Opportunity.

Loi M, Del Savio L, Stupka E.

Public Health Ethics. 2013 Jul;6(2):142-153. Epub 2013 Jul 15.

31.

Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.

Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L.

Science. 2013 Aug 23;341(6148):1233158. doi: 10.1126/science.1233158. Epub 2013 Jul 11.

32.

Overexpression of facioscapulohumeral muscular dystrophy region gene 1 causes primary defects in myogenic stem cells.

Xynos A, Neguembor MV, Caccia R, Licastro D, Nonis A, Di Serio C, Stupka E, Gabellini D.

J Cell Sci. 2013 May 15;126(Pt 10):2236-45. doi: 10.1242/jcs.121533. Epub 2013 Mar 22.

33.

An autoinflammatory neurological disease due to interleukin 6 hypersecretion.

Salsano E, Rizzo A, Bedini G, Bernard L, Dall'olio V, Volorio S, Lazzaroni M, Ceccherini I, Lazarevic D, Cittaro D, Stupka E, Paterra R, Farina L, Savoiardo M, Pareyson D, Sciacca FL.

J Neuroinflammation. 2013 Feb 21;10:29. doi: 10.1186/1742-2094-10-29.

34.

Highly conserved elements discovered in vertebrates are present in non-syntenic loci of tunicates, act as enhancers and can be transcribed during development.

Sanges R, Hadzhiev Y, Gueroult-Bellone M, Roure A, Ferg M, Meola N, Amore G, Basu S, Brown ER, De Simone M, Petrera F, Licastro D, Strähle U, Banfi S, Lemaire P, Birney E, Müller F, Stupka E.

Nucleic Acids Res. 2013 Apr 1;41(6):3600-18. doi: 10.1093/nar/gkt030. Epub 2013 Feb 7.

35.

Characterisation and validation of insertions and deletions in 173 patient exomes.

Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, Kasperavičiūtė D, Williams J, Harold D, Hardy J, Kleta R, Cirak S, Williams R, Achermann JC, Anderson J, Kelsell D, Vulliamy T, Houlden H, Wood N, Sheerin U, Tonini GP, Mackay D, Hussain K, Sowden J, Kinsler V, Osinska J, Brooks T, Hubank M, Beales P, Stupka E.

PLoS One. 2012;7(12):e51292. doi: 10.1371/journal.pone.0051292. Epub 2012 Dec 14.

36.

A novel function for FOXP3 in humans: intrinsic regulation of conventional T cells.

McMurchy AN, Gillies J, Gizzi MC, Riba M, Garcia-Manteiga JM, Cittaro D, Lazarevic D, Di Nunzio S, Piras IS, Bulfone A, Roncarolo MG, Stupka E, Bacchetta R, Levings MK.

Blood. 2013 Feb 21;121(8):1265-75. doi: 10.1182/blood-2012-05-431023. Epub 2012 Nov 20.

37.

Epigenetic regulation of survivin by Bmi1 is cell type specific during corticogenesis and in gliomas.

Acquati S, Greco A, Licastro D, Bhagat H, Ceric D, Rossini Z, Grieve J, Shaked-Rabi M, Henriquez NV, Brandner S, Stupka E, Marino S.

Stem Cells. 2013 Jan;31(1):190-202. doi: 10.1002/stem.1274.

38.

Long non-coding antisense RNA controls Uchl1 translation through an embedded SINEB2 repeat.

Carrieri C, Cimatti L, Biagioli M, Beugnet A, Zucchelli S, Fedele S, Pesce E, Ferrer I, Collavin L, Santoro C, Forrest AR, Carninci P, Biffo S, Stupka E, Gustincich S.

Nature. 2012 Nov 15;491(7424):454-7. doi: 10.1038/nature11508. Epub 2012 Oct 14.

PMID:
23064229
39.

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.

Su Z, Gay LJ, Strange A, Palles C, Band G, Whiteman DC, Lescai F, Langford C, Nanji M, Edkins S, van der Winkel A, Levine D, Sasieni P, Bellenguez C, Howarth K, Freeman C, Trudgill N, Tucker AT, Pirinen M, Peppelenbosch MP, van der Laan LJ, Kuipers EJ, Drenth JP, Peters WH, Reynolds JV, Kelleher DP, McManus R, Grabsch H, Prenen H, Bisschops R, Krishnadath K, Siersema PD, van Baal JW, Middleton M, Petty R, Gillies R, Burch N, Bhandari P, Paterson S, Edwards C, Penman I, Vaidya K, Ang Y, Murray I, Patel P, Ye W, Mullins P, Wu AH, Bird NC, Dallal H, Shaheen NJ, Murray LJ, Koss K, Bernstein L, Romero Y, Hardie LJ, Zhang R, Winter H, Corley DA, Panter S, Risch HA, Reid BJ, Sargeant I, Gammon MD, Smart H, Dhar A, McMurtry H, Ali H, Liu G, Casson AG, Chow WH, Rutter M, Tawil A, Morris D, Nwokolo C, Isaacs P, Rodgers C, Ragunath K, MacDonald C, Haigh C, Monk D, Davies G, Wajed S, Johnston D, Gibbons M, Cullen S, Church N, Langley R, Griffin M, Alderson D, Deloukas P, Hunt SE, Gray E, Dronov S, Potter SC, Tashakkori-Ghanbaria A, Anderson M, Brooks C, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Duncanson A, Markus HS, Mathew CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Wood N, Trynka G, Wijmenga C, Cazier JB, Atherfold P, Nicholson AM, Gellatly NL, Glancy D, Cooper SC, Cunningham D, Lind T, Hapeshi J, Ferry D, Rathbone B, Brown J, Love S, Attwood S, MacGregor S, Watson P, Sanders S, Ek W, Harrison RF, Moayyedi P, de Caestecker J, Barr H, Stupka E, Vaughan TL, Peltonen L, Spencer CC, Tomlinson I, Donnelly P, Jankowski JA; Esophageal Adenocarcinoma Genetics Consortium; Wellcome Trust Case Control Consortium 2.

Nat Genet. 2012 Oct;44(10):1131-6. doi: 10.1038/ng.2408. Epub 2012 Sep 9.

40.

Transcription initiation arising from E-cadherin/CDH1 intron2: a novel protein isoform that increases gastric cancer cell invasion and angiogenesis.

Pinheiro H, Carvalho J, Oliveira P, Ferreira D, Pinto MT, Osório H, Licastro D, Bordeira-Carriço R, Jordan P, Lazarevic D, Sanges R, Stupka E, Huntsman D, Seruca R, Oliveira C.

Hum Mol Genet. 2012 Oct 1;21(19):4253-69. doi: 10.1093/hmg/dds248. Epub 2012 Jun 29.

PMID:
22752307
41.

Characterization of the intronic portion of cadherin superfamily members, common cancer orchestrators.

Oliveira P, Sanges R, Huntsman D, Stupka E, Oliveira C.

Eur J Hum Genet. 2012 Aug;20(8):878-83. doi: 10.1038/ejhg.2012.11. Epub 2012 Feb 8.

42.

Identification of common carp innate immune genes with whole-genome sequencing and RNA-Seq data.

Zhang Y, Stupka E, Henkel CV, Jansen HJ, Spaink HP, Verbeek FJ.

J Integr Bioinform. 2011 Sep 12;8(2):169. doi: 10.2390/biecoll-jib-2011-169.

PMID:
21908900
43.

Genome-wide mapping of Myc binding and gene regulation in serum-stimulated fibroblasts.

Perna D, Fagà G, Verrecchia A, Gorski MM, Barozzi I, Narang V, Khng J, Lim KC, Sung WK, Sanges R, Stupka E, Oskarsson T, Trumpp A, Wei CL, Müller H, Amati B.

Oncogene. 2012 Mar 29;31(13):1695-709. doi: 10.1038/onc.2011.359. Epub 2011 Aug 22.

44.

ParkDB: a Parkinson's disease gene expression database.

Taccioli C, Tegnér J, Maselli V, Gomez-Cabrero D, Altobelli G, Emmett W, Lescai F, Gustincich S, Stupka E.

Database (Oxford). 2011 May 18;2011:bar007. doi: 10.1093/database/bar007. Print 2011.

45.

Comparative methylome analysis of benign and malignant peripheral nerve sheath tumors.

Feber A, Wilson GA, Zhang L, Presneau N, Idowu B, Down TA, Rakyan VK, Noon LA, Lloyd AC, Stupka E, Schiza V, Teschendorff AE, Schroth GP, Flanagan A, Beck S.

Genome Res. 2011 Apr;21(4):515-24. doi: 10.1101/gr.109678.110. Epub 2011 Feb 1.

46.

Integrated genetic and epigenetic analysis identifies haplotype-specific methylation in the FTO type 2 diabetes and obesity susceptibility locus.

Bell CG, Finer S, Lindgren CM, Wilson GA, Rakyan VK, Teschendorff AE, Akan P, Stupka E, Down TA, Prokopenko I, Morison IM, Mill J, Pidsley R; International Type 2 Diabetes 1q Consortium, Deloukas P, Frayling TM, Hattersley AT, McCarthy MI, Beck S, Hitman GA.

PLoS One. 2010 Nov 18;5(11):e14040. doi: 10.1371/journal.pone.0014040.

47.

Gene expression analysis of the emergence of epileptiform activity after focal injection of kainic acid into mouse hippocampus.

Motti D, Le Duigou C, Eugène E, Chemaly N, Wittner L, Lazarevic D, Krmac H, Marstrand T, Valen E, Sanges R, Stupka E, Sandelin A, Cherubini E, Gustincich S, Miles R.

Eur J Neurosci. 2010 Oct;32(8):1364-79. doi: 10.1111/j.1460-9568.2010.07403.x.

PMID:
20950280
48.

The IKMC web portal: a central point of entry to data and resources from the International Knockout Mouse Consortium.

Ringwald M, Iyer V, Mason JC, Stone KR, Tadepally HD, Kadin JA, Bult CJ, Eppig JT, Oakley DJ, Briois S, Stupka E, Maselli V, Smedley D, Liu S, Hansen J, Baldock R, Hicks GG, Skarnes WC.

Nucleic Acids Res. 2011 Jan;39(Database issue):D849-55. doi: 10.1093/nar/gkq879. Epub 2010 Oct 6.

49.

Promiscuity of enhancer, coding and non-coding transcription functions in ultraconserved elements.

Licastro D, Gennarino VA, Petrera F, Sanges R, Banfi S, Stupka E.

BMC Genomics. 2010 Mar 4;11:151. doi: 10.1186/1471-2164-11-151.

50.

Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours.

Velho S, Oliveira C, Paredes J, Sousa S, Leite M, Matos P, Milanezi F, Ribeiro AS, Mendes N, Licastro D, Karhu A, Oliveira MJ, Ligtenberg M, Hamelin R, Carneiro F, Lindblom A, Peltomaki P, Castedo S, Schwartz S Jr, Jordan P, Aaltonen LA, Hofstra RM, Suriano G, Stupka E, Fialho AM, Seruca R.

Hum Mol Genet. 2010 Feb 15;19(4):697-706. doi: 10.1093/hmg/ddp536. Epub 2009 Dec 2.

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