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Items: 30

1.

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.

Dufek S, Cheshire C, Levine AP, Trompeter RS, Issler N, Stubbs M, Mozere M, Gupta S, Klootwijk E, Patel V, Hothi D, Waters A, Webb H, Tullus K, Jenkins L, Godinho L, Levtchenko E, Wetzels J, Knoers N, Teeninga N, Nauta J, Shalaby M, Eldesoky S, Kari JA, Thalgahagoda S, Ranawaka R, Abeyagunawardena A, Adeyemo A, Kristiansen M, Gbadegesin R, Webb NJ, Gale DP, Stanescu HC, Kleta R, Bockenhauer D.

J Am Soc Nephrol. 2019 Jul 1. pii: ASN.2018101054. doi: 10.1681/ASN.2018101054. [Epub ahead of print]

PMID:
31263063
2.

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM, Kurki M, Ganna A, Graham D, Glaser B, Peter I, Atzmon G, Barzilai N, Levine AP, Schiff E, Pontikos N, Weisburd B, Lek M, Karczewski KJ, Bloom J, Minikel EV, Petersen BS, Beaugerie L, Seksik P, Cosnes J, Schreiber S, Bokemeyer B, Bethge J; International IBD Genetics Consortium; NIDDK IBD Genetics Consortium; T2D-GENES Consortium, Heap G, Ahmad T, Plagnol V, Segal AW, Targan S, Turner D, Saavalainen P, Farkkila M, Kontula K, Palotie A, Brant SR, Duerr RH, Silverberg MS, Rioux JD, Weersma RK, Franke A, Jostins L, Anderson CA, Barrett JC, MacArthur DG, Jalas C, Sokol H, Xavier RJ, Pulver A, Cho JH, McGovern DPB, Daly MJ.

PLoS Genet. 2019 May 30;15(5):e1008190. doi: 10.1371/journal.pgen.1008190. eCollection 2019 May.

3.

Elevation in Cell Cycle and Protein Metabolism Gene Transcription in Inactive Colonic Tissue From Icelandic Patients With Ulcerative Colitis.

Vinayaga-Pavan M, Frampton M, Pontikos N, Levine AP, Smith PJ, Jonasson JG, Björnsson ES, Segal AW, Smith AM.

Inflamm Bowel Dis. 2019 Jan 10;25(2):317-327. doi: 10.1093/ibd/izy350.

4.

A New Look at Familial Risk of Inflammatory Bowel Disease in the Ashkenazi Jewish Population.

Schiff ER, Frampton M, Semplici F, Bloom SL, McCartney SA, Vega R, Lovat LB, Wood E, Hart AL, Crespi D, Furman MA, Mann S, Murray CD, Segal AW, Levine AP.

Dig Dis Sci. 2018 Nov;63(11):3049-3057. doi: 10.1007/s10620-018-5219-9. Epub 2018 Sep 3.

5.

Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease.

Schiff ER, Frampton M, Ben-Yosef N, Avila BE, Semplici F, Pontikos N, Bloom SL, McCartney SA, Vega R, Lovat LB, Wood E, Hart A, Israeli E, Crespi D, Furman MA, Mann S, Murray CD, Segal AW, Levine AP.

Hum Genet. 2018 Sep;137(9):723-734. doi: 10.1007/s00439-018-1927-7. Epub 2018 Aug 22.

6.

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM, Kurki M, Ganna A, Graham D, Glaser B, Peter I, Atzmon G, Barzilai N, Levine AP, Schiff E, Pontikos N, Weisburd B, Lek M, Karczewski KJ, Bloom J, Minikel EV, Petersen BS, Beaugerie L, Seksik P, Cosnes J, Schreiber S, Bokemeyer B, Bethge J; International IBD Genetics Consortium; NIDDK IBD Genetics Consortium; T2D-GENES Consortium, Heap G, Ahmad T, Plagnol V, Segal AW, Targan S, Turner D, Saavalainen P, Farkkila M, Kontula K, Palotie A, Brant SR, Duerr RH, Silverberg MS, Rioux JD, Weersma RK, Franke A, Jostins L, Anderson CA, Barrett JC, MacArthur DG, Jalas C, Sokol H, Xavier RJ, Pulver A, Cho JH, McGovern DPB, Daly MJ.

PLoS Genet. 2018 May 24;14(5):e1007329. doi: 10.1371/journal.pgen.1007329. eCollection 2018 May. Erratum in: PLoS Genet. 2019 May 30;15(5):e1008190.

7.

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.

Hui KY, Fernandez-Hernandez H, Hu J, Schaffner A, Pankratz N, Hsu NY, Chuang LS, Carmi S, Villaverde N, Li X, Rivas M, Levine AP, Bao X, Labrias PR, Haritunians T, Ruane D, Gettler K, Chen E, Li D, Schiff ER, Pontikos N, Barzilai N, Brant SR, Bressman S, Cheifetz AS, Clark LN, Daly MJ, Desnick RJ, Duerr RH, Katz S, Lencz T, Myers RH, Ostrer H, Ozelius L, Payami H, Peter Y, Rioux JD, Segal AW, Scott WK, Silverberg MS, Vance JM, Ubarretxena-Belandia I, Foroud T, Atzmon G, Pe'er I, Ioannou Y, McGovern DPB, Yue Z, Schadt EE, Cho JH, Peter I.

Sci Transl Med. 2018 Jan 10;10(423). pii: eaai7795. doi: 10.1126/scitranslmed.aai7795.

8.

Corrigendum: An Exploration of Charge Compensating Ion Channels across the Phagocytic Vacuole of Neutrophils.

Foote JR, Behe P, Frampton M, Levine AP, Segal AW.

Front Pharmacol. 2017 Oct 11;8:728. doi: 10.3389/fphar.2017.00728. eCollection 2017.

9.

The Human Salivary Microbiome Is Shaped by Shared Environment Rather than Genetics: Evidence from a Large Family of Closely Related Individuals.

Shaw L, Ribeiro ALR, Levine AP, Pontikos N, Balloux F, Segal AW, Roberts AP, Smith AM.

MBio. 2017 Sep 12;8(5). pii: e01237-17. doi: 10.1128/mBio.01237-17.

10.

The LRRC8A Mediated "Swell Activated" Chloride Conductance Is Dispensable for Vacuolar Homeostasis in Neutrophils.

Behe P, Foote JR, Levine AP, Platt CD, Chou J, Benavides F, Geha RS, Segal AW.

Front Pharmacol. 2017 May 12;8:262. doi: 10.3389/fphar.2017.00262. eCollection 2017.

11.

Imaging the Neutrophil Phagosome and Cytoplasm Using a Ratiometric pH Indicator.

Foote JR, Levine AP, Behe P, Duchen MR, Segal AW.

J Vis Exp. 2017 Apr 5;(122). doi: 10.3791/55107.

12.

An Exploration of Charge Compensating Ion Channels across the Phagocytic Vacuole of Neutrophils.

Foote JR, Behe P, Frampton M, Levine AP, Segal AW.

Front Pharmacol. 2017 Feb 28;8:94. doi: 10.3389/fphar.2017.00094. eCollection 2017. Erratum in: Front Pharmacol. 2017 Oct 11;8:728.

13.

Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1.

Gale DP, Molyneux K, Wimbury D, Higgins P, Levine AP, Caplin B, Ferlin A, Yin P, Nelson CP, Stanescu H, Samani NJ, Kleta R, Yu X, Barratt J.

J Am Soc Nephrol. 2017 Jul;28(7):2158-2166. doi: 10.1681/ASN.2016091043. Epub 2017 Feb 16.

14.

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.

Lubbe SJ, Escott-Price V, Gibbs JR, Nalls MA, Bras J, Price TR, Nicolas A, Jansen IE, Mok KY, Pittman AM, Tomkins JE, Lewis PA, Noyce AJ, Lesage S, Sharma M, Schiff ER, Levine AP, Brice A, Gasser T, Hardy J, Heutink P, Wood NW, Singleton AB, Williams NM, Morris HR; for International Parkinson’s Disease Genomics Consortium.

Hum Mol Genet. 2016 Dec 15;25(24):5483-5489. doi: 10.1093/hmg/ddw348.

15.
16.

A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF.

Chuang LS, Villaverde N, Hui KY, Mortha A, Rahman A, Levine AP, Haritunians T, Evelyn Ng SM, Zhang W, Hsu NY, Facey JA, Luong T, Fernandez-Hernandez H, Li D, Rivas M, Schiff ER, Gusev A, Schumm LP, Bowen BM, Sharma Y, Ning K, Remark R, Gnjatic S, Legnani P, George J, Sands BE, Stempak JM, Datta LW, Lipka S, Katz S, Cheifetz AS, Barzilai N, Pontikos N, Abraham C, Dubinsky MJ, Targan S, Taylor K, Rotter JI, Scherl EJ, Desnick RJ, Abreu MT, Zhao H, Atzmon G, Pe'er I, Kugathasan S, Hakonarson H, McCauley JL, Lencz T, Darvasi A, Plagnol V, Silverberg MS, Muise AM, Brant SR, Daly MJ, Segal AW, Duerr RH, Merad M, McGovern DP, Peter I, Cho JH.

Gastroenterology. 2016 Oct;151(4):710-723.e2. doi: 10.1053/j.gastro.2016.06.045. Epub 2016 Jul 1.

17.

Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families.

Levine AP, Pontikos N, Schiff ER, Jostins L, Speed D; NIDDK Inflammatory Bowel Disease Genetics Consortium, Lovat LB, Barrett JC, Grasberger H, Plagnol V, Segal AW.

Gastroenterology. 2016 Oct;151(4):698-709. doi: 10.1053/j.gastro.2016.06.040. Epub 2016 Jul 1.

18.

Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies.

Levine AP, Connor TM, Oygar DD, Neild GH, Segal AW, Maxwell PH, Gale DP.

BMC Genomics. 2015 Mar 10;16:163. doi: 10.1186/s12864-015-1360-4.

19.

Alkalinity of neutrophil phagocytic vacuoles is modulated by HVCN1 and has consequences for myeloperoxidase activity.

Levine AP, Duchen MR, de Villiers S, Rich PR, Segal AW.

PLoS One. 2015 Apr 17;10(4):e0125906. doi: 10.1371/journal.pone.0125906. eCollection 2015.

20.

Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up.

Mistry V, Bockett NA, Levine AP, Mirza MM, Hunt KA, Ciclitira PJ, Hummerich H, Neuhausen SL, Simpson MA, Plagnol V, van Heel DA.

PLoS One. 2015 Jan 30;10(1):e0116845. doi: 10.1371/journal.pone.0116845. eCollection 2015.

21.

Characterization of expression quantitative trait loci in the human colon.

Singh T, Levine AP, Smith PJ, Smith AM, Segal AW, Barrett JC.

Inflamm Bowel Dis. 2015 Feb;21(2):251-6. doi: 10.1097/MIB.0000000000000265.

22.

Mucosal transcriptomics implicates under expression of BRINP3 in the pathogenesis of ulcerative colitis.

Smith PJ, Levine AP, Dunne J, Guilhamon P, Turmaine M, Sewell GW, OʼShea NR, Vega R, Paterson JC, Oukrif D, Beck S, Bloom SL, Novelli M, Rodriguez-Justo M, Smith AM, Segal AW.

Inflamm Bowel Dis. 2014 Oct;20(10):1802-12. doi: 10.1097/MIB.0000000000000169. Erratum in: Inflamm Bowel Dis. 2015 Apr;21(4):911. Inflamm Bowel Dis. 2016 Feb;22(2):E10.

23.

Disruption of macrophage pro-inflammatory cytokine release in Crohn's disease is associated with reduced optineurin expression in a subset of patients.

Smith AM, Sewell GW, Levine AP, Chew TS, Dunne J, O'Shea NR, Smith PJ, Harrison PJ, Macdonald CM, Bloom SL, Segal AW.

Immunology. 2015 Jan;144(1):45-55. doi: 10.1111/imm.12338.

24.

ZODET: software for the identification, analysis and visualisation of outlier genes in microarray expression data.

Roden DL, Sewell GW, Lobley A, Levine AP, Smith AM, Segal AW.

PLoS One. 2014 Jan 8;9(1):e81123. doi: 10.1371/journal.pone.0081123. eCollection 2014.

25.

What is wrong with granulocytes in inflammatory bowel diseases?

Levine AP, Segal AW.

Dig Dis. 2013;31(3-4):321-7. doi: 10.1159/000354686. Epub 2013 Nov 14. Review.

26.

Using genetic prediction from known complex disease Loci to guide the design of next-generation sequencing experiments.

Jostins L, Levine AP, Barrett JC.

PLoS One. 2013 Oct 18;8(10):e76328. doi: 10.1371/journal.pone.0076328. eCollection 2013.

27.

Insights into TREM2 biology by network analysis of human brain gene expression data.

Forabosco P, Ramasamy A, Trabzuni D, Walker R, Smith C, Bras J, Levine AP, Hardy J, Pocock JM, Guerreiro R, Weale ME, Ryten M.

Neurobiol Aging. 2013 Dec;34(12):2699-714. doi: 10.1016/j.neurobiolaging.2013.05.001. Epub 2013 Jul 12.

28.

Defective tumor necrosis factor release from Crohn's disease macrophages in response to Toll-like receptor activation: relationship to phenotype and genome-wide association susceptibility loci.

Sewell GW, Rahman FZ, Levine AP, Jostins L, Smith PJ, Walker AP, Bloom SL, Segal AW, Smith AM.

Inflamm Bowel Dis. 2012 Nov;18(11):2120-7. doi: 10.1002/ibd.22952. Epub 2012 Mar 20.

29.

Endoscopy, but not as we know it.

Smith PJ, Sewell GW, Levine AP.

Br J Hosp Med (Lond). 2011 Mar;72(3):174. No abstract available.

PMID:
21475102
30.

Achieving vascular risk factor targets: a survey of a London general practice.

Levine AP, Mikhailidis DP, Moross T, Benson K, Gor M.

Angiology. 2008 Feb-Mar;59(1):36-46. doi: 10.1177/0003319707309538.

PMID:
18319220

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