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Page 1
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.
Spencer S, Köstel Bal S, Egner W, Lango Allen H, Raza SI, Ma CA, Gürel M, Zhang Y, Sun G, Sabroe RA, Greene D, Rae W, Shahin T, Kania K, Ardy RC, Thian M, Staples E, Pecchia-Bekkum A, Worrall WPM, Stephens J, Brown M, Tuna S, York M, Shackley F, Kerrin D, Sargur R, Condliffe A, Tipu HN, Kuehn HS, Rosenzweig SD, Turro E, Tavaré S, Thrasher AJ, Jodrell DI, Smith KGC, Boztug K, Milner JD, Thaventhiran JED. Spencer S, et al. Among authors: thian m. J Exp Med. 2019 Sep 2;216(9):1986-1998. doi: 10.1084/jem.20190344. Epub 2019 Jun 24. J Exp Med. 2019. PMID: 31235509 Free PMC article.
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.
van Rijn JM, Ardy RC, Kuloğlu Z, Härter B, van Haaften-Visser DY, van der Doef HPJ, van Hoesel M, Kansu A, van Vugt AHM, Thian M, Kokke FTM, Krolo A, Başaran MK, Kaya NG, Aksu AÜ, Dalgıç B, Ozcay F, Baris Z, Kain R, Stigter ECA, Lichtenbelt KD, Massink MPG, Duran KJ, Verheij JBGM, Lugtenberg D, Nikkels PGJ, Brouwer HGF, Verkade HJ, Scheenstra R, Spee B, Nieuwenhuis EES, Coffer PJ, Janecke AR, van Haaften G, Houwen RHJ, Müller T, Middendorp S, Boztug K. van Rijn JM, et al. Among authors: thian m. Gastroenterology. 2018 Jul;155(1):130-143.e15. doi: 10.1053/j.gastro.2018.03.040. Epub 2018 Mar 29. Gastroenterology. 2018. PMID: 29604290 Free PMC article.
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
Somekh I, Thian M, Medgyesi D, Gülez N, Magg T, Gallón Duque A, Stauber T, Lev A, Genel F, Unal E, Simon AJ, Lee YN, Kalinichenko A, Dmytrus J, Kraakman MJ, Schiby G, Rohlfs M, Jacobson JM, Özer E, Akcal Ö, Conca R, Patiroglu T, Karakukcu M, Ozcan A, Shahin T, Appella E, Tatematsu M, Martinez-Jaramillo C, Chinn IK, Orange JS, Trujillo-Vargas CM, Franco JL, Hauck F, Somech R, Klein C, Boztug K. Somekh I, et al. Among authors: thian m. Blood. 2019 Oct 31;134(18):1510-1516. doi: 10.1182/blood.2019000644. Blood. 2019. PMID: 31501153 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 32001535
Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis.
Kostel Bal S, Giuliani S, Block J, Repiscak P, Hafemeister C, Shahin T, Kasap N, Ransmayr B, Miao Y, van de Wetering C, Frohne A, Jimenez Heredia R, Schuster M, Zoghi S, Hertlein V, Thian M, Bykov A, Babayeva R, Bilgic Eltan S, Karakoc-Aydiner E, Shaw LE, Chowdhury I, Varjosalo M, Argüello RJ, Farlik M, Ozen A, Serfling E, Dupré L, Bock C, Halbritter F, Hannich JT, Castanon I, Kraakman MJ, Baris S, Boztug K. Kostel Bal S, et al. Among authors: thian m. Blood. 2023 Aug 31;142(9):827-845. doi: 10.1182/blood.2022018303. Blood. 2023. PMID: 37249233 Free article.
RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis.
Kalinichenko A, Perinetti Casoni G, Dupré L, Trotta L, Huemer J, Galgano D, German Y, Haladik B, Pazmandi J, Thian M, Yüce Petronczki Ö, Chiang SC, Taskinen M, Hekkala A, Kauppila S, Lindgren O, Tapiainen T, Kraakman MJ, Vettenranta K, Lomakin AJ, Saarela J, Seppänen MRJ, Bryceson YT, Boztug K. Kalinichenko A, et al. Among authors: thian m. Blood. 2021 Apr 15;137(15):2033-2045. doi: 10.1182/blood.2020008738. Blood. 2021. PMID: 33513601 Free PMC article.
LTβR deficiency causes lymph node aplasia and impaired B cell differentiation.
Ransmayr B, Bal SK, Thian M, Svaton M, van de Wetering C, Hafemeister C, Segarra-Roca A, Block J, Frohne A, Krolo A, Altunbas MY, Bilgic-Eltan S, Kıykım A, Aydiner O, Kesim S, Inanir S, Karakoc-Aydiner E, Ozen A, Aba Ü, Çomak A, Tuğcu GD, Pazdzior R, Huber B, Farlik M, Kubicek S, von Bernuth H, Simonitsch-Klupp I, Rizzi M, Halbritter F, Tumanov AV, Kraakman MJ, Metin A, Castanon I, Erman B, Baris S, Boztug K. Ransmayr B, et al. Among authors: thian m. Sci Immunol. 2024 Nov 22;9(101):eadq8796. doi: 10.1126/sciimmunol.adq8796. Epub 2024 Nov 22. Sci Immunol. 2024. PMID: 39576873
Real-World Validation of a Computer-Aided Diagnosis System for Prediction of Polyp Histology in Colonoscopy: A Prospective Multicenter Study.
Li JW, Wu CCH, Lee JWJ, Liang R, Soon GST, Wang LM, Koh XH, Koh CJ, Chew WD, Lin KW, Thian MY, Matthew R, Kim G, Khor CJL, Fock KM, Ang TL, So JBY; Artificial Intelligence in Gastrointestinal Endoscopy Singapore (AIGES) Study Group. Li JW, et al. Among authors: thian my. Am J Gastroenterol. 2023 Aug 1;118(8):1353-1364. doi: 10.14309/ajg.0000000000002282. Epub 2023 Apr 11. Am J Gastroenterol. 2023. PMID: 37040553
Computer-assisted detection versus conventional colonoscopy for proximal colonic lesions: a multicenter, randomized, tandem-colonoscopy study.
Lui TKL, Hang DV, Tsao SKK, Hui CKY, Mak LLY, Ko MKL, Cheung KS, Thian MY, Liang R, Tsui VWM, Yeung CK, Dao LV, Leung WK. Lui TKL, et al. Among authors: thian my. Gastrointest Endosc. 2023 Feb;97(2):325-334.e1. doi: 10.1016/j.gie.2022.09.020. Epub 2022 Oct 5. Gastrointest Endosc. 2023. PMID: 36208795 Clinical Trial.
13 results