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Items: 1 to 50 of 233

1.

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.

2.

Studies on patients establish Crohn's disease as a manifestation of impaired innate immunity.

Segal AW.

J Intern Med. 2019 May 28. doi: 10.1111/joim.12945. [Epub ahead of print] Review.

PMID:
31136040
3.

Variations in the Phagosomal Environment of Human Neutrophils and Mononuclear Phagocyte Subsets.

Foote JR, Patel AA, Yona S, Segal AW.

Front Immunol. 2019 Mar 1;10:188. doi: 10.3389/fimmu.2019.00188. eCollection 2019.

4.

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.

5.

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.

6.

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.

7.

The role of neutrophils in the pathogenesis of Crohn's disease.

Segal AW.

Eur J Clin Invest. 2018 Nov;48 Suppl 2:e12983. doi: 10.1111/eci.12983. Review.

PMID:
29931668
8.

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.

9.

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.

10.

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.

11.

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.

12.

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.

13.

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.

14.

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.

15.

Making sense of the cause of Crohn's - a new look at an old disease.

Segal AW.

Version 2. F1000Res. 2016 Oct 12 [revised 2016 Jan 1];5:2510. doi: 10.12688/f1000research.9699.2. eCollection 2016. Review.

16.
17.

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.

18.

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.

19.

NADPH oxidases as electrochemical generators to produce ion fluxes and turgor in fungi, plants and humans.

Segal AW.

Open Biol. 2016 May;6(5). pii: 160028. doi: 10.1098/rsob.160028. Epub 2016 May 18. Review.

20.

Critical Role of the Disintegrin Metalloprotease ADAM-like Decysin-1 [ADAMDEC1] for Intestinal Immunity and Inflammation.

O'Shea NR, Chew TS, Dunne J, Marnane R, Nedjat-Shokouhi B, Smith PJ, Bloom SL, Smith AM, Segal AW.

J Crohns Colitis. 2016 Dec;10(12):1417-1427. Epub 2016 May 25.

21.

Optineurin deficiency in mice contributes to impaired cytokine secretion and neutrophil recruitment in bacteria-driven colitis.

Chew TS, O'Shea NR, Sewell GW, Oehlers SH, Mulvey CM, Crosier PS, Godovac-Zimmermann J, Bloom SL, Smith AM, Segal AW.

Dis Model Mech. 2015 Aug 1;8(8):817-29. doi: 10.1242/dmm.020362. Epub 2015 Jun 4.

22.

Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67phox.

Roos D, van Buul JD, Tool AT, Matute JD, Marchal CM, Hayee B, Köker MY, de Boer M, van Leeuwen K, Segal AW, Pick E, Dinauer MC.

J Clin Cell Immunol. 2014 Jun 30;5(3). pii: 1000231.

23.

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.

24.

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.

25.

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.

26.

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.

27.

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.

28.

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.

29.

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.

30.

Shotgun cholanomics of ileal fluid.

Chen Y, Ogundare M, Williams CM, Wang Y, Wang Y, Sewell GW, Smith PJ, Rahman FZ, O'Shea N, Segal AW, Griffiths WJ.

Biochimie. 2013 Mar;95(3):461-3. doi: 10.1016/j.biochi.2012.09.004. Epub 2012 Sep 14.

31.

Lipidomic profiling in Crohn's disease: abnormalities in phosphatidylinositols, with preservation of ceramide, phosphatidylcholine and phosphatidylserine composition.

Sewell GW, Hannun YA, Han X, Koster G, Bielawski J, Goss V, Smith PJ, Rahman FZ, Vega R, Bloom SL, Walker AP, Postle AD, Segal AW.

Int J Biochem Cell Biol. 2012 Nov;44(11):1839-46. doi: 10.1016/j.biocel.2012.06.016. Epub 2012 Jun 19.

32.

Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia.

Smith BN, Evans C, Ali A, Ancliff PJ, Hayee B, Segal AW, Hall G, Kaya Z, Shakoori AR, Linch DC, Gale RE.

Br J Haematol. 2012 Jul;158(1):146-9. doi: 10.1111/j.1365-2141.2012.09110.x. Epub 2012 Apr 2. No abstract available.

33.

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.

34.

G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.

Hayee B, Antonopoulos A, Murphy EJ, Rahman FZ, Sewell G, Smith BN, McCartney S, Furman M, Hall G, Bloom SL, Haslam SM, Morris HR, Boztug K, Klein C, Winchester B, Pick E, Linch DC, Gale RE, Smith AM, Dell A, Segal AW.

Glycobiology. 2011 Jul;21(7):914-24. doi: 10.1093/glycob/cwr023. Epub 2011 Mar 8.

35.

A phagocyte dilemma...

Thrasher AJ, Segal AW.

Nat Immunol. 2011 Mar;12(3):201-2. doi: 10.1038/ni0311-201. No abstract available.

36.

The neutrophil respiratory burst and bacterial digestion in Crohn's disease.

Hayee B, Rahman FZ, Tempero J, McCartney S, Bloom SL, Segal AW, Smith AM.

Dig Dis Sci. 2011 May;56(5):1482-8. doi: 10.1007/s10620-010-1426-8. Epub 2010 Oct 9.

37.

Subcellular localisation of the p40phox component of NADPH oxidase involves direct interactions between the Phox homology domain and F-actin.

Shao D, Segal AW, Dekker LV.

Int J Biochem Cell Biol. 2010 Oct;42(10):1736-43. doi: 10.1016/j.biocel.2010.07.009. Epub 2010 Jul 15.

38.

Crohn's disease as an immunodeficiency.

Hayee B, Rahman FZ, Sewell G, Smith AM, Segal AW.

Expert Rev Clin Immunol. 2010 Jul;6(4):585-96. doi: 10.1586/eci.10.32.

39.

Delayed resolution of acute inflammation in ulcerative colitis is associated with elevated cytokine release downstream of TLR4.

Rahman FZ, Smith AM, Hayee B, Marks DJ, Bloom SL, Segal AW.

PLoS One. 2010 Mar 26;5(3):e9891. doi: 10.1371/journal.pone.0009891.

40.

CO binding and ligand discrimination in human myeloperoxidase.

Murphy EJ, Maréchal A, Segal AW, Rich PR.

Biochemistry. 2010 Mar 16;49(10):2150-8. doi: 10.1021/bi9021507.

41.

Diminished macrophage apoptosis and reactive oxygen species generation after phorbol ester stimulation in Crohn's disease.

Palmer CD, Rahman FZ, Sewell GW, Ahmed A, Ashcroft M, Bloom SL, Segal AW, Smith AM.

PLoS One. 2009 Nov 12;4(11):e7787. doi: 10.1371/journal.pone.0007787.

42.

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.

Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schäffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hätscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B, Klein C.

N Engl J Med. 2009 Nov 19;361(21):2033-45. doi: 10.1056/NEJMoa0907206. Epub 2009 Nov 4.

43.

Impaired macrophage function following bacterial stimulation in chronic granulomatous disease.

Rahman FZ, Hayee B, Chee R, Segal AW, Smith AM.

Immunology. 2009 Oct;128(2):253-9. doi: 10.1111/j.1365-2567.2009.03112.x.

44.

The immunopathogenesis of Crohn's disease: a three-stage model.

Sewell GW, Marks DJ, Segal AW.

Curr Opin Immunol. 2009 Oct;21(5):506-13. doi: 10.1016/j.coi.2009.06.003. Epub 2009 Aug 8. Review.

45.

Disordered macrophage cytokine secretion underlies impaired acute inflammation and bacterial clearance in Crohn's disease.

Smith AM, Rahman FZ, Hayee B, Graham SJ, Marks DJ, Sewell GW, Palmer CD, Wilde J, Foxwell BM, Gloger IS, Sweeting T, Marsh M, Walker AP, Bloom SL, Segal AW.

J Exp Med. 2009 Aug 31;206(9):1883-97. doi: 10.1084/jem.20091233. Epub 2009 Aug 3. Erratum in: J Exp Med. 2009 Sep 28;206(10):2301.

46.

Crohn's disease: an immune deficiency state.

Marks DJ, Rahman FZ, Sewell GW, Segal AW.

Clin Rev Allergy Immunol. 2010 Feb;38(1):20-31. doi: 10.1007/s12016-009-8133-2. Review.

47.

Subproteome analysis of the neutrophil cytoskeleton.

Xu P, Crawford M, Way M, Godovac-Zimmermann J, Segal AW, Radulovic M.

Proteomics. 2009 Apr;9(7):2037-49. doi: 10.1002/pmic.200800674.

48.

Inflammatory bowel disease in CGD reproduces the clinicopathological features of Crohn's disease.

Marks DJ, Miyagi K, Rahman FZ, Novelli M, Bloom SL, Segal AW.

Am J Gastroenterol. 2009 Jan;104(1):117-24. doi: 10.1038/ajg.2008.72.

PMID:
19098859
49.

Phagocyte dysfunction and inflammatory bowel disease.

Rahman FZ, Marks DJ, Hayee BH, Smith AM, Bloom SL, Segal AW.

Inflamm Bowel Dis. 2008 Oct;14(10):1443-52. doi: 10.1002/ibd.20449. Review.

PMID:
18421761
50.

Innate immunity in inflammatory bowel disease: a disease hypothesis.

Marks DJ, Segal AW.

J Pathol. 2008 Jan;214(2):260-6. Review.

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