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Page 1
Systems genetics identifies miRNA-mediated regulation of host response in COVID-19.
Gjorgjieva T, Chaloemtoem A, Shahin T, Bayaraa O, Dieng MM, Alshaikh M, Abdalbaqi M, Del Monte J, Begum G, Leonor C, Manikandan V, Drou N, Arshad M, Arnoux M, Kumar N, Jabari A, Abdulle A, ElGhazali G, Ali R, Shaheen SY, Abdalla J, Piano F, Gunsalus KC, Daggag H, Al Nahdi H, Abuzeid H, Idaghdour Y. Gjorgjieva T, et al. Among authors: shahin t. Hum Genomics. 2023 Jun 12;17(1):49. doi: 10.1186/s40246-023-00494-4. Hum Genomics. 2023. PMID: 37303042 Free PMC article.
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: shahin t. Blood. 2023 Aug 31;142(9):827-845. doi: 10.1182/blood.2022018303. Blood. 2023. PMID: 37249233
Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.
Shahin T, Mayr D, Shoeb MR, Kuehn HS, Hoeger B, Giuliani S, Gawriyski LM, Petronczki ÖY, Hadjadj J, Bal SK, Zoghi S, Haimel M, Jimenez Heredia R, Boutboul D, Triebwasser MP, Rialland-Battisti F, Costedoat Chalumeau N, Quartier P, Tangye SG, Fleisher TA, Rezaei N, Romberg N, Latour S, Varjosalo M, Halbritter F, Rieux-Laucat F, Castanon I, Rosenzweig SD, Boztug K. Shahin T, et al. Blood Adv. 2022 Apr 12;6(7):2444-2451. doi: 10.1182/bloodadvances.2021006367. Blood Adv. 2022. PMID: 34920454 Free PMC article.
Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity.
Shahin T, Kuehn HS, Shoeb MR, Gawriyski L, Giuliani S, Repiscak P, Hoeger B, Yüce Petronczki Ö, Bal SK, Zoghi S, Dmytrus J, Seruggia D, Castanon I, Rezaei N, Varjosalo M, Halbritter F, Rosenzweig SD, Boztug K. Shahin T, et al. Sci Immunol. 2021 Nov 26;6(65):eabe3981. doi: 10.1126/sciimmunol.abe3981. Epub 2021 Nov 26. Sci Immunol. 2021. PMID: 34826259 Free PMC article.
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.
Kuehn HS, Niemela JE, Stoddard J, Mannurita SC, Shahin T, Goel S, Hintermeyer M, Heredia RJ, Garofalo M, Lucas L, Singh S, Tondo A, Jacobs Z, Gahl WA, Latour S, Verbsky J, Routes J, Cunningham-Rundles C, Boztug K, Gambineri E, Fleisher TA, Chandrakasan S, Rosenzweig SD. Kuehn HS, et al. Among authors: shahin t. Blood. 2021 Jan 21;137(3):349-363. doi: 10.1182/blood.2020007292. Blood. 2021. PMID: 32845957 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: shahin t. Blood. 2019 Oct 31;134(18):1510-1516. doi: 10.1182/blood.2019000644. Blood. 2019. PMID: 31501153 Free PMC article.
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: shahin t. 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.
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