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Items: 1 to 50 of 73

1.

Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated with Monogenic Variants, Identified by Whole-exome Sequencing in 1000 Children at a Single Center.

Crowley E, Warner N, Pan J, Khalouei S, Elkadri A, Fiedler K, Foong J, Turinsky AL, Bronte-Tinkew D, Zhang S, Hu J, Tian D, Li D; Regeneron Genetics Center, Horowitz J, Siddiqui I, Upton J, Roifman CM, Church PC, Wall DA, Ramani AK, Kotlarz D, Klein C, Uhlig H, Snapper SB, Gonzaga-Jauregui C, Paterson A, McGovern DP, Brudno M, Walters TD, Griffiths AM, Muise AM.

Gastroenterology. 2020 Feb 18. pii: S0016-5085(20)30233-X. doi: 10.1053/j.gastro.2020.02.023. [Epub ahead of print]

PMID:
32084423
2.

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.

Serra EG, Schwerd T, Moutsianas L, Cavounidis A, Fachal L, Pandey S, Kammermeier J, Croft NM, Posovszky C, Rodrigues A, Russell RK, Barakat F, Auth MKH, Heuschkel R, Zilbauer M, Fyderek K, Braegger C, Travis SP, Satsangi J, Parkes M, Thapar N, Ferry H, Matte JC, Gilmour KC, Wedrychowicz A, Sullivan P, Moore C, Sambrook J, Ouwehand W, Roberts D, Danesh J, Baeumler TA, Fulga TA, Karaminejadranjbar M, Ahmed A, Wilson R, Barrett JC, Elkadri A, Griffiths AM; COLORS in IBD group investigators; Oxford IBD cohort study investigators; INTERVAL Study; Swiss IBD cohort investigators; UK IBD Genetics Consortium; NIDDK IBD Genetics Consortium, Snapper SB, Shah N, Muise AM, Wilson DC, Uhlig HH, Anderson CA.

Nat Commun. 2020 Feb 21;11(1):995. doi: 10.1038/s41467-019-14275-y.

PMID:
32081864
3.

NOX1 Regulates Collective and Planktonic Cell Migration: Insights From Patients With Pediatric-Onset IBD and NOX1 Deficiency.

Khoshnevisan R, Anderson M, Babcock S, Anderson S, Illig D, Marquardt B, Sherkat R, Schröder K, Moll F, Hollizeck S, Rohlfs M, Walz C, Adibi P, Rezaei A, Andalib A, Koletzko S, Muise AM, Snapper SB, Klein C, Thiagarajah JR, Kotlarz D.

Inflamm Bowel Dis. 2020 Feb 17. pii: izaa017. doi: 10.1093/ibd/izaa017. [Epub ahead of print]

PMID:
32064493
4.

2019 Harry Shwachman Award: Dr. Anne M. Griffiths, MD, FRCPC.

Benchimol EI, Jones NL, Muise AM, Sherman PM.

J Pediatr Gastroenterol Nutr. 2019 Dec 24. doi: 10.1097/MPG.0000000000002606. [Epub ahead of print] No abstract available.

PMID:
31880672
5.

Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Diseases Caused by TTC7A Deficiency.

Jardine S, Anderson S, Babcock S, Leung G, Pan J, Dhingani N, Warner N, Guo C, Siddiqui I, Kotlarz D, Dowling JJ, Melnyk R, Snapper SB, Klein C, Thiagarajah JR, Muise AM.

Gastroenterology. 2019 Nov 16. pii: S0016-5085(19)41574-6. doi: 10.1053/j.gastro.2019.11.019. [Epub ahead of print]

6.

Palmitoylation of NOD1 and NOD2 is required for bacterial sensing.

Lu Y, Zheng Y, Coyaud É, Zhang C, Selvabaskaran A, Yu Y, Xu Z, Weng X, Chen JS, Meng Y, Warner N, Cheng X, Liu Y, Yao B, Hu H, Xia Z, Muise AM, Klip A, Brumell JH, Girardin SE, Ying S, Fairn GD, Raught B, Sun Q, Neculai D.

Science. 2019 Oct 25;366(6464):460-467. doi: 10.1126/science.aau6391. Epub 2019 Oct 24.

PMID:
31649195
7.

Novel Exonic Deletions in TTC7A in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency.

Saunders JR, Lehman A, Turvey SE, Pan J, Rajcan-Separovic E, Muise AM, Bush JW.

J Clin Immunol. 2019 Aug;39(6):616-619. doi: 10.1007/s10875-019-00669-6. Epub 2019 Jul 24. No abstract available.

PMID:
31342292
8.

Phenotypic variation in paediatric IBD by age: a multi-centre prospective inception cohort study of the Canadian Children IBD Network.

Dhaliwal J, Walters TD, Mack DR, Huynh HQ, Jacobson K, Otley AR, Debruyn J, El-Matary W, Deslandres C, Sherlock ME, Critch JN, Bax K, Seidman E, Jantchou P, Ricciuto A, Rashid M, Muise AM, Wine E, Carroll M, Lawrence S, Van Limbergen J, Benchimol EI, Church P, Griffiths AM.

J Crohns Colitis. 2019 May 28. pii: jjz106. doi: 10.1093/ecco-jcc/jjz106. [Epub ahead of print]

PMID:
31136648
9.

CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease.

Magg T, Shcherbina A, Arslan D, Desai MM, Wall S, Mitsialis V, Conca R, Unal E, Karacabey N, Mukhina A, Rodina Y, Taur PD, Illig D, Marquardt B, Hollizeck S, Jeske T, Gothe F, Schober T, Rohlfs M, Koletzko S, Lurz E, Muise AM, Snapper SB, Hauck F, Klein C, Kotlarz D.

Inflamm Bowel Dis. 2019 Oct 18;25(11):1788-1795. doi: 10.1093/ibd/izz103.

PMID:
31115454
10.

Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis.

Gupta A, Sanville J, Menz T, Warner N, Muise AM, Fiedler K, Martín MG, Padbury J, Phornphutkul C, Sanchez-Esteban J, Cerezo CS.

J Pediatr Gastroenterol Nutr. 2019 Jun;68(6):e106-e108. doi: 10.1097/MPG.0000000000002258. No abstract available.

PMID:
30633106
11.

Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.

Li Y, Führer M, Bahrami E, Socha P, Klaudel-Dreszler M, Bouzidi A, Liu Y, Lehle AS, Magg T, Hollizeck S, Rohlfs M, Conca R, Field M, Warner N, Mordechai S, Shteyer E, Turner D, Boukari R, Belbouab R, Walz C, Gaidt MM, Hornung V, Baumann B, Pannicke U, Al Idrissi E, Ali Alghamdi H, Sepulveda FE, Gil M, de Saint Basile G, Hönig M, Koletzko S, Muise AM, Snapper SB, Schwarz K, Klein C, Kotlarz D.

Proc Natl Acad Sci U S A. 2019 Jan 15;116(3):970-975. doi: 10.1073/pnas.1813582116. Epub 2018 Dec 27.

12.

TTC7A: Steward of Intestinal Health.

Jardine S, Dhingani N, Muise AM.

Cell Mol Gastroenterol Hepatol. 2019;7(3):555-570. doi: 10.1016/j.jcmgh.2018.12.001. Epub 2018 Dec 13. Review.

13.

An ATG16L1-dependent pathway promotes plasma membrane repair and limits Listeria monocytogenes cell-to-cell spread.

Tan JMJ, Mellouk N, Osborne SE, Ammendolia DA, Dyer DN, Li R, Brunen D, van Rijn JM, Huang J, Czuczman MA, Cemma MA, Won AM, Yip CM, Xavier RJ, MacDuff DA, Reggiori F, Debnath J, Yoshimori T, Kim PK, Fairn GD, Coyaud E, Raught B, Muise AM, Higgins DE, Brumell JH.

Nat Microbiol. 2018 Dec;3(12):1472-1485. doi: 10.1038/s41564-018-0293-5. Epub 2018 Nov 26.

PMID:
30478389
14.

Very early onset IBD: novel genetic aetiologies.

Batura V, Muise AM.

Curr Opin Allergy Clin Immunol. 2018 Dec;18(6):470-480. doi: 10.1097/ACI.0000000000000486. Review.

PMID:
30299396
15.

Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency.

Lehle AS, Farin HF, Marquardt B, Michels BE, Magg T, Li Y, Liu Y, Ghalandary M, Lammens K, Hollizeck S, Rohlfs M, Hauck F, Conca R, Walz C, Weiss B, Lev A, Simon AJ, Groß O, Gaidt MM, Hornung V, Clevers H, Yazbeck N, Hanna-Wakim R, Shouval DS, Warner N, Somech R, Muise AM, Snapper SB, Bufler P, Koletzko S, Klein C, Kotlarz D.

Gastroenterology. 2019 Jan;156(1):275-278. doi: 10.1053/j.gastro.2018.09.041. Epub 2018 Sep 26. No abstract available.

PMID:
30267714
16.

Monogenic Intestinal Epithelium Defects and the Development of Inflammatory Bowel Disease.

Leung G, Muise AM.

Physiology (Bethesda). 2018 Sep 1;33(5):360-369. doi: 10.1152/physiol.00020.2018. Review.

17.

Inherited p40phox deficiency differs from classic chronic granulomatous disease.

van de Geer A, Nieto-Patlán A, Kuhns DB, Tool AT, Arias AA, Bouaziz M, de Boer M, Franco JL, Gazendam RP, van Hamme JL, van Houdt M, van Leeuwen K, Verkuijlen PJ, van den Berg TK, Alzate JF, Arango-Franco CA, Batura V, Bernasconi AR, Boardman B, Booth C, Burns SO, Cabarcas F, Bensussan NC, Charbit-Henrion F, Corveleyn A, Deswarte C, Azcoiti ME, Foell D, Gallin JI, Garcés C, Guedes M, Hinze CH, Holland SM, Hughes SM, Ibañez P, Malech HL, Meyts I, Moncada-Velez M, Moriya K, Neves E, Oleastro M, Perez L, Rattina V, Oleaga-Quintas C, Warner N, Muise AM, López JS, Trindade E, Vasconcelos J, Vermeire S, Wittkowski H, Worth A, Abel L, Dinauer MC, Arkwright PD, Roos D, Casanova JL, Kuijpers TW, Bustamante J.

J Clin Invest. 2018 Aug 31;128(9):3957-3975. doi: 10.1172/JCI97116. Epub 2018 Aug 6.

18.

Advances in Evaluation of Chronic Diarrhea in Infants.

Thiagarajah JR, Kamin DS, Acra S, Goldsmith JD, Roland JT, Lencer WI, Muise AM, Goldenring JR, Avitzur Y, Martín MG; PediCODE Consortium.

Gastroenterology. 2018 Jun;154(8):2045-2059.e6. doi: 10.1053/j.gastro.2018.03.067. Epub 2018 Apr 12. Review.

19.

Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis.

Parlato M, Charbit-Henrion F, Pan J, Romano C, Duclaux-Loras R, Le Du MH, Warner N, Francalanci P, Bruneau J, Bras M, Zarhrate M, Bègue B, Guegan N, Rakotobe S, Kapel N, De Angelis P, Griffiths AM, Fiedler K, Crowley E, Ruemmele F, Muise AM, Cerf-Bensussan N.

EMBO Mol Med. 2018 Apr;10(4). pii: e8483. doi: 10.15252/emmm.201708483.

20.

Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy.

Kotlarz D, Marquardt B, Barøy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Strømme P, Klein C.

Nat Genet. 2018 Mar;50(3):344-348. doi: 10.1038/s41588-018-0063-6. Epub 2018 Feb 26.

21.

NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.

Schwerd T, Bryant RV, Pandey S, Capitani M, Meran L, Cazier JB, Jung J, Mondal K, Parkes M, Mathew CG, Fiedler K, McCarthy DJ; WGS500 Consortium; Oxford IBD cohort study investigators; COLORS in IBD group investigators; UK IBD Genetics Consortium, Sullivan PB, Rodrigues A, Travis SPL, Moore C, Sambrook J, Ouwehand WH, Roberts DJ, Danesh J; INTERVAL Study, Russell RK, Wilson DC, Kelsen JR, Cornall R, Denson LA, Kugathasan S, Knaus UG, Serra EG, Anderson CA, Duerr RH, McGovern DP, Cho J, Powrie F, Li VS, Muise AM, Uhlig HH.

Mucosal Immunol. 2018 Mar;11(2):562-574. doi: 10.1038/mi.2017.74. Epub 2017 Nov 1.

22.

Enhanced TH17 Responses in Patients with IL10 Receptor Deficiency and Infantile-onset IBD.

Shouval DS, Konnikova L, Griffith AE, Wall SM, Biswas A, Werner L, Nunberg M, Kammermeier J, Goettel JA, Anand R, Chen H, Weiss B, Li J, Loizides A, Yerushalmi B, Yanagi T, Beier R, Conklin LS, Ebens CL, Santos FGMS, Sherlock M, Goldsmith JD, Kotlarz D, Glover SC, Shah N, Bousvaros A, Uhlig HH, Muise AM, Klein C, Snapper SB.

Inflamm Bowel Dis. 2017 Nov;23(11):1950-1961. doi: 10.1097/MIB.0000000000001270.

PMID:
29023267
23.

Clinical Genomics in Inflammatory Bowel Disease.

Uhlig HH, Muise AM.

Trends Genet. 2017 Sep;33(9):629-641. doi: 10.1016/j.tig.2017.06.008. Epub 2017 Jul 26. Review.

24.

Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.

Kahr WH, Pluthero FG, Elkadri A, Warner N, Drobac M, Chen CH, Lo RW, Li L, Li R, Li Q, Thoeni C, Pan J, Leung G, Lara-Corrales I, Murchie R, Cutz E, Laxer RM, Upton J, Roifman CM, Yeung RS, Brumell JH, Muise AM.

Nat Commun. 2017 Apr 3;8:14816. doi: 10.1038/ncomms14816.

25.

Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.

van Haaften-Visser DY, Harakalova M, Mocholi E, van Montfrans JM, Elkadri A, Rieter E, Fiedler K, van Hasselt PM, Triffaux EMM, van Haelst MM, Nijman IJ, Kloosterman WP, Nieuwenhuis EES, Muise AM, Cuppen E, Houwen RHJ, Coffer PJ.

J Biol Chem. 2017 May 12;292(19):7904-7920. doi: 10.1074/jbc.M116.772038. Epub 2017 Mar 16.

26.

Very Early Onset IBD: How Very Different 'on Average'?

Turner D, Muise AM.

J Crohns Colitis. 2017 May 1;11(5):517-518. doi: 10.1093/ecco-jcc/jjw217. No abstract available.

PMID:
28082310
27.

Interleukin 1β Mediates Intestinal Inflammation in Mice and Patients With Interleukin 10 Receptor Deficiency.

Shouval DS, Biswas A, Kang YH, Griffith AE, Konnikova L, Mascanfroni ID, Redhu NS, Frei SM, Field M, Doty AL, Goldsmith JD, Bhan AK, Loizides A, Weiss B, Yerushalmi B, Yanagi T, Lui X, Quintana FJ, Muise AM, Klein C, Horwitz BH, Glover SC, Bousvaros A, Snapper SB.

Gastroenterology. 2016 Dec;151(6):1100-1104. doi: 10.1053/j.gastro.2016.08.055. Epub 2016 Sep 28.

28.

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.

29.

Large B-Cell Lymphoma in an Adolescent Patient With Interleukin-10 Receptor Deficiency and History of Infantile Inflammatory Bowel Disease.

Shouval DS, Ebens CL, Murchie R, McCann K, Rabah R, Klein C, Muise AM, Snapper SB.

J Pediatr Gastroenterol Nutr. 2016 Jul;63(1):e15-7. doi: 10.1097/MPG.0000000000000532. No abstract available.

30.

Mucosa-Associated Ileal Microbiota in New-Onset Pediatric Crohn's Disease.

Assa A, Butcher J, Li J, Elkadri A, Sherman PM, Muise AM, Stintzi A, Mack D.

Inflamm Bowel Dis. 2016 Jul;22(7):1533-9. doi: 10.1097/MIB.0000000000000776.

PMID:
27271491
31.

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.

Schwerd T, Pandey S, Yang HT, Bagola K, Jameson E, Jung J, Lachmann RH, Shah N, Patel SY, Booth C, Runz H, Düker G, Bettels R, Rohrbach M, Kugathasan S, Chapel H, Keshav S, Elkadri A, Platt N, Muise AM, Koletzko S, Xavier RJ, Marquardt T, Powrie F, Wraith JE, Gyrd-Hansen M, Platt FM, Uhlig HH.

Gut. 2017 Jun;66(6):1060-1073. doi: 10.1136/gutjnl-2015-310382. Epub 2016 Mar 7.

32.

Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.

Li Q, Lee CH, Peters LA, Mastropaolo LA, Thoeni C, Elkadri A, Schwerd T, Zhu J, Zhang B, Zhao Y, Hao K, Dinarzo A, Hoffman G, Kidd BA, Murchie R, Al Adham Z, Guo C, Kotlarz D, Cutz E, Walters TD, Shouval DS, Curran M, Dobrin R, Brodmerkel C, Snapper SB, Klein C, Brumell JH, Hu M, Nanan R, Snanter-Nanan B, Wong M, Le Deist F, Haddad E, Roifman CM, Deslandres C, Griffiths AM, Gaskin KJ, Uhlig HH, Schadt EE, Muise AM.

Gastroenterology. 2016 May;150(5):1196-1207. doi: 10.1053/j.gastro.2016.01.031. Epub 2016 Feb 4.

33.

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.

Janecke AR, Heinz-Erian P, Yin J, Petersen BS, Franke A, Lechner S, Fuchs I, Melancon S, Uhlig HH, Travis S, Marinier E, Perisic V, Ristic N, Gerner P, Booth IW, Wedenoja S, Baumgartner N, Vodopiutz J, Frechette-Duval MC, De Lafollie J, Persad R, Warner N, Tse CM, Sud K, Zachos NC, Sarker R, Zhu X, Muise AM, Zimmer KP, Witt H, Zoller H, Donowitz M, Müller T.

Hum Mol Genet. 2015 Dec 1;24(23):6614-23. doi: 10.1093/hmg/ddv367. Epub 2015 Sep 10.

34.

Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia.

Elkadri A, Thoeni C, Deharvengt SJ, Murchie R, Guo C, Stavropoulos JD, Marshall CR, Wales P, Bandsma R, Cutz E, Roifman CM, Chitayat D, Avitzur Y, Stan RV, Muise AM.

Cell Mol Gastroenterol Hepatol. 2015 Jul;1(4):381-394.e7.

35.

Very early-onset inflammatory bowel disease: gaining insight through focused discovery.

Moran CJ, Klein C, Muise AM, Snapper SB.

Inflamm Bowel Dis. 2015 May;21(5):1166-75. doi: 10.1097/MIB.0000000000000329. Review.

36.

Rac1 Polymorphisms and Thiopurine Efficacy in Children With Inflammatory Bowel Disease.

Lev-Tzion R, Renbaum P, Beeri R, Ledder O, Mevorach R, Karban A, Koifman E, Efrati E, Muise AM, Chowers Y, Turner D.

J Pediatr Gastroenterol Nutr. 2015 Oct;61(4):404-7. doi: 10.1097/MPG.0000000000000820.

PMID:
25885881
37.

Fatal autoimmunity in mice reconstituted with human hematopoietic stem cells encoding defective FOXP3.

Goettel JA, Biswas S, Lexmond WS, Yeste A, Passerini L, Patel B, Yang S, Sun J, Ouahed J, Shouval DS, McCann KJ, Horwitz BH, Mathis D, Milford EL, Notarangelo LD, Roncarolo MG, Fiebiger E, Marasco WA, Bacchetta R, Quintana FJ, Pai SY, Klein C, Muise AM, Snapper SB.

Blood. 2015 Jun 18;125(25):3886-95. doi: 10.1182/blood-2014-12-618363. Epub 2015 Apr 1.

38.

Unrelated donor hematopoietic stem cell transplantation for infantile enteropathy due to IL-10/IL-10 receptor defect.

Gassas A, Courtney S, Armstrong C, Kapllani E, Muise AM, Schechter T.

Pediatr Transplant. 2015 Jun;19(4):E101-3. doi: 10.1111/petr.12452. Epub 2015 Mar 12.

PMID:
25761563
39.

The diaphanous-related formins promote protrusion formation and cell-to-cell spread of Listeria monocytogenes.

Fattouh R, Kwon H, Czuczman MA, Copeland JW, Pelletier L, Quinlan ME, Muise AM, Higgins DE, Brumell JH.

J Infect Dis. 2015 Apr 1;211(7):1185-95. doi: 10.1093/infdis/jiu546. Epub 2014 Oct 3.

40.

The diagnostic approach to monogenic very early onset inflammatory bowel disease.

Uhlig HH, Schwerd T, Koletzko S, Shah N, Kammermeier J, Elkadri A, Ouahed J, Wilson DC, Travis SP, Turner D, Klein C, Snapper SB, Muise AM; COLORS in IBD Study Group and NEOPICS.

Gastroenterology. 2014 Nov;147(5):990-1007.e3. doi: 10.1053/j.gastro.2014.07.023. Epub 2014 Jul 21. Review.

41.

Incidence, outcomes, and health services burden of very early onset inflammatory bowel disease.

Benchimol EI, Mack DR, Nguyen GC, Snapper SB, Li W, Mojaverian N, Quach P, Muise AM.

Gastroenterology. 2014 Oct;147(4):803-813.e7; quiz e14-5. doi: 10.1053/j.gastro.2014.06.023. Epub 2014 Jun 18.

PMID:
24951840
42.

Variants in nicotinamide adenine dinucleotide phosphate oxidase complex components determine susceptibility to very early onset inflammatory bowel disease.

Dhillon SS, Fattouh R, Elkadri A, Xu W, Murchie R, Walters T, Guo C, Mack D, Huynh HQ, Baksh S, Silverberg MS, Griffiths AM, Snapper SB, Brumell JH, Muise AM.

Gastroenterology. 2014 Sep;147(3):680-689.e2. doi: 10.1053/j.gastro.2014.06.005. Epub 2014 Jun 12.

PMID:
24931457
43.

Infliximab maintains durable response and facilitates catch-up growth in luminal pediatric Crohn's disease.

Church PC, Guan J, Walters TD, Frost K, Assa A, Muise AM, Griffiths AM.

Inflamm Bowel Dis. 2014 Jul;20(7):1177-86. doi: 10.1097/MIB.0000000000000083.

PMID:
24865777
44.

Novel de novo mutations of the interleukin-10 receptor gene lead to infantile onset inflammatory bowel disease.

Lee CH, Hsu P, Nanan B, Nanan R, Wong M, Gaskin KJ, Leong RW, Murchie R, Muise AM, Stormon MO.

J Crohns Colitis. 2014 Nov;8(11):1551-6. doi: 10.1016/j.crohns.2014.04.004. Epub 2014 May 10.

PMID:
24813381
45.

Interleukin-10 receptor signaling in innate immune cells regulates mucosal immune tolerance and anti-inflammatory macrophage function.

Shouval DS, Biswas A, Goettel JA, McCann K, Conaway E, Redhu NS, Mascanfroni ID, Al Adham Z, Lavoie S, Ibourk M, Nguyen DD, Samsom JN, Escher JC, Somech R, Weiss B, Beier R, Conklin LS, Ebens CL, Santos FG, Ferreira AR, Sherlock M, Bhan AK, Müller W, Mora JR, Quintana FJ, Klein C, Muise AM, Horwitz BH, Snapper SB.

Immunity. 2014 May 15;40(5):706-19. doi: 10.1016/j.immuni.2014.03.011. Epub 2014 May 1.

46.

Listeria monocytogenes exploits efferocytosis to promote cell-to-cell spread.

Czuczman MA, Fattouh R, van Rijn JM, Canadien V, Osborne S, Muise AM, Kuchroo VK, Higgins DE, Brumell JH.

Nature. 2014 May 8;509(7499):230-4. doi: 10.1038/nature13168. Epub 2014 Apr 13.

47.

Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation.

Murugan D, Albert MH, Langemeier J, Bohne J, Puchalka J, Järvinen PM, Hauck F, Klenk AK, Prell C, Schatz S, Diestelhorst J, Sciskala B, Kohistani N, Belohradsky BH, Müller S, Kirchner T, Walter MR, Bufler P, Muise AM, Snapper SB, Koletzko S, Klein C, Kotlarz D.

J Clin Immunol. 2014 Apr;34(3):331-9. doi: 10.1007/s10875-014-9992-8. Epub 2014 Feb 12.

PMID:
24519095
48.

Interleukin 10 receptor signaling: master regulator of intestinal mucosal homeostasis in mice and humans.

Shouval DS, Ouahed J, Biswas A, Goettel JA, Horwitz BH, Klein C, Muise AM, Snapper SB.

Adv Immunol. 2014;122:177-210. doi: 10.1016/B978-0-12-800267-4.00005-5. Review.

49.

Higher activity of the inducible nitric oxide synthase contributes to very early onset inflammatory bowel disease.

Dhillon SS, Mastropaolo LA, Murchie R, Griffiths C, Thöni C, Elkadri A, Xu W, Mack A, Walters T, Guo C, Mack D, Huynh H, Baksh S, Silverberg MS, Brumell JH, Snapper SB, Muise AM.

Clin Transl Gastroenterol. 2014 Jan 16;5:e46. doi: 10.1038/ctg.2013.17.

50.

Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.

Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, Elkadri A, Dhillon S, Murchie R, Fattouh R, Huynh H, Walker JL, Wales PW, Cutz E, Kakuta Y, Dudley J, Kammermeier J, Powrie F, Shah N, Walz C, Nathrath M, Kotlarz D, Puchaka J, Krieger JR, Racek T, Kirchner T, Walters TD, Brumell JH, Griffiths AM, Rezaei N, Rashtian P, Najafi M, Monajemzadeh M, Pelsue S, McGovern DP, Uhlig HH, Schadt E, Klein C, Snapper SB, Muise AM.

Gastroenterology. 2014 Apr;146(4):1028-39. doi: 10.1053/j.gastro.2014.01.015. Epub 2014 Jan 11.

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