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104 results

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Page 1
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P… See abstract for full author list ➔ Leiding JW, et al. Among authors: pruhova s. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
Tolerogenic Dendritic Cells from Poorly Compensated Type 1 Diabetes Patients Have Decreased Ability To Induce Stable Antigen-Specific T Cell Hyporesponsiveness and Generation of Suppressive Regulatory T Cells.
Dáňová K, Grohová A, Strnadová P, Funda DP, Šumník Z, Lebl J, Cinek O, Průhová Š, Koloušková S, Obermannová B, Petruželková L, Šedivá A, Fundová P, Buschard K, Špíšek R, Palová-Jelínková L. Dáňová K, et al. Among authors: pruhova s. J Immunol. 2017 Jan 15;198(2):729-740. doi: 10.4049/jimmunol.1600676. Epub 2016 Dec 7. J Immunol. 2017. PMID: 27927966
Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?
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Sediva H, Dusatkova P, Kanderova V, Obermannova B, Kayserova J, Sramkova L, Zemkova D, Elblova L, Svaton M, Zachova R, Kolouskova S, Fronkova E, Sumnik Z, Sediva A, Lebl J, Pruhova S. Sediva H, et al. Among authors: pruhova s. Horm Res Paediatr. 2017;88(2):160-166. doi: 10.1159/000456544. Epub 2017 Mar 2. Horm Res Paediatr. 2017. PMID: 28253502
Alteration of B cell subsets and the receptor for B cell activating factor (BAFF) in paediatric patients with type 1 diabetes.
Parackova Z, Klocperk A, Rataj M, Kayserova J, Zentsova I, Sumnik Z, Kolouskova S, Sklenarova J, Pruhova S, Obermannova B, Petruzelkova L, Lebl J, Kalina T, Sediva A. Parackova Z, et al. Among authors: pruhova s. Immunol Lett. 2017 Sep;189:94-100. doi: 10.1016/j.imlet.2017.04.009. Epub 2017 Apr 14. Immunol Lett. 2017. PMID: 28414179
Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK.
Kanderova V, Svobodova T, Borna S, Fejtkova M, Martinu V, Paderova J, Svaton M, Kralova J, Fronkova E, Klocperk A, Pruhova S, Lee-Kirsch MA, Hornofova L, Koblizek M, Novak P, Zimmermannova O, Parackova Z, Sediva A, Kalina T, Janda A, Kayserova J, Dvorakova M, Macek M, Pohunek P, Sedlacek P, Poh A, Ernst M, Brdicka T, Hrusak O, Lebl J. Kanderova V, et al. Among authors: pruhova s. J Allergy Clin Immunol. 2022 Apr;149(4):1464-1472.e3. doi: 10.1016/j.jaci.2021.07.046. Epub 2021 Sep 15. J Allergy Clin Immunol. 2022. PMID: 34536415
Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study.
Locke JM, Dusatkova P, Colclough K, Hughes AE, Dennis JM, Shields B, Flanagan SE, Shepherd MH, Dempster EL, Hattersley AT, Weedon MN, Pruhova S, Patel KA. Locke JM, et al. Among authors: pruhova s. Diabetologia. 2022 Jan;65(1):246-249. doi: 10.1007/s00125-021-05581-6. Epub 2021 Oct 7. Diabetologia. 2022. PMID: 34618178 Free PMC article. No abstract available.
104 results