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Page 1
Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease 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 RA, Snapper SB, Klein C, Thiagarajah JR, Muise AM. Jardine S, et al. Among authors: kotlarz d. Gastroenterology. 2020 Mar;158(4):1000-1015. doi: 10.1053/j.gastro.2019.11.019. Epub 2019 Nov 16. Gastroenterology. 2020. PMID: 31743734 Free PMC article.
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. Glocker EO, et al. Among authors: kotlarz d. N Engl J Med. 2009 Nov 19;361(21):2033-45. doi: 10.1056/NEJMoa0907206. Epub 2009 Nov 4. N Engl J Med. 2009. PMID: 19890111 Free PMC article.
IL-10 and IL-10 receptor defects in humans.
Glocker EO, Kotlarz D, Klein C, Shah N, Grimbacher B. Glocker EO, et al. Among authors: kotlarz d. Ann N Y Acad Sci. 2011 Dec;1246:102-7. doi: 10.1111/j.1749-6632.2011.06339.x. Ann N Y Acad Sci. 2011. PMID: 22236434 Review.
Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy.
Kotlarz D, Beier R, Murugan D, Diestelhorst J, Jensen O, Boztug K, Pfeifer D, Kreipe H, Pfister ED, Baumann U, Puchalka J, Bohne J, Egritas O, Dalgic B, Kolho KL, Sauerbrey A, Buderus S, Güngör T, Enninger A, Koda YK, Guariso G, Weiss B, Corbacioglu S, Socha P, Uslu N, Metin A, Wahbeh GT, Husain K, Ramadan D, Al-Herz W, Grimbacher B, Sauer M, Sykora KW, Koletzko S, Klein C. Kotlarz D, et al. Gastroenterology. 2012 Aug;143(2):347-55. doi: 10.1053/j.gastro.2012.04.045. Epub 2012 Apr 28. Gastroenterology. 2012. PMID: 22549091
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. Avitzur Y, et al. Among authors: kotlarz d. Gastroenterology. 2014 Apr;146(4):1028-39. doi: 10.1053/j.gastro.2014.01.015. Epub 2014 Jan 11. Gastroenterology. 2014. PMID: 24417819 Free PMC article.
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. Murugan D, et al. Among authors: kotlarz d. J Clin Immunol. 2014 Apr;34(3):331-9. doi: 10.1007/s10875-014-9992-8. Epub 2014 Feb 12. J Clin Immunol. 2014. PMID: 24519095
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. Li Q, et al. Among authors: kotlarz d. Gastroenterology. 2016 May;150(5):1196-1207. doi: 10.1053/j.gastro.2016.01.031. Epub 2016 Feb 4. Gastroenterology. 2016. PMID: 26836588 Free PMC article.
Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations.
Bahrami E, Witzel M, Racek T, Puchałka J, Hollizeck S, Greif-Kohistani N, Kotlarz D, Horny HP, Feederle R, Schmidt H, Sherkat R, Steinemann D, Göhring G, Schlegelbeger B, Albert MH, Al-Herz W, Klein C. Bahrami E, et al. Among authors: kotlarz d. J Allergy Clin Immunol. 2017 Oct;140(4):1112-1119. doi: 10.1016/j.jaci.2016.10.053. Epub 2017 Jan 21. J Allergy Clin Immunol. 2017. PMID: 28115216
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.
Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, Brinkert F, Buchta M, Bulashevska A, Chee R, Cordeiro AI, Dara N, Dückers G, Elmarsafy A, Frede N, Galal N, Gerner P, Glocker EO, Goldacker S, Hammermann J, Hasselblatt P, Havlicekova Z, Hübscher K, Jesenak M, Karaca NE, Karakoc-Aydiner E, Kharaghani MM, Kilic SS, Kiykim A, Klein C, Klemann C, Kobbe R, Kotlarz D, Laass MW, Leahy TR, Mesdaghi M, Mitton S, Neves JF, Öztürk B, Pereira LF, Rohr J, Restrepo JLR, Ruzaike G, Saleh N, Seneviratne S, Senol E, Speckmann C, Tegtmeyer D, Thankam P, van der Werff Ten Bosch J, von Bernuth H, Zeissig S, Zeissig Y, Franke A, Grimbacher B. Petersen BS, et al. Among authors: kotlarz d. Inflamm Bowel Dis. 2017 Dec;23(12):2109-2120. doi: 10.1097/MIB.0000000000001235. Inflamm Bowel Dis. 2017. PMID: 28930861
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