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Page 1
A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease.
Molitor A, Lederle A, Radosavljevic M, Sapuru V, Zavorka Thomas ME, Yang J, Shirin M, Collin-Bund V, Jerabkova-Roda K, Miao Z, Bernard A, Rolli V, Grenot P, Castro CN, Rosenzwajg M, Lewis EG, Person R, Esperón-Moldes US, Kaare M, Nokelainen PT, Batzir NA, Hoffer GZ, Paul N, Stemmelen T, Naegely L, Hanauer A, Bibi-Triki S, Grün S, Jung S, Busnelli I, Tripolszki K, Al-Ali R, Ordonez N, Bauer P, Song E, Zajo K, Partida-Sanchez S, Robledo-Avila F, Kumanovics A, Louzoun Y, Hirschler A, Pichot A, Toker O, Mejía CAM, Parvaneh N, Knapp E, Hersh JH, Kenney H, Delmonte OM, Notarangelo LD, Goetz JG, Kahwash SB, Carapito C, Bajwa RPS, Thomas C, Ehl S, Isidor B, Carapito R, Abraham RS, Hite RK, Marcus N, Bertoli-Avella A, Bahram S. Molitor A, et al. Among authors: ehl s. Sci Adv. 2024 Sep 13;10(37):eado5545. doi: 10.1126/sciadv.ado5545. Epub 2024 Sep 13. Sci Adv. 2024. PMID: 39270020 Free PMC article.
Immune profiling and functional analysis of NK and T cells in ataxia telangiectasia.
Graafen L, Heinze A, Albinger N, Salzmann-Manrique E, Ganß F, Hünecke S, Cappel C, Wölke S, Donath H, Trischler J, Theilen TM, Heller C, Königs C, Ehl S, Bader P, Klingebiel T, Klusmann JH, Zielen S, Schubert R, Ullrich E. Graafen L, et al. Among authors: ehl s. Front Immunol. 2024 Aug 6;15:1377955. doi: 10.3389/fimmu.2024.1377955. eCollection 2024. Front Immunol. 2024. PMID: 39165363 Free PMC article.
Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis.
Chiang SCC, Covill LE, Tesi B, Campbell TM, Schlums H, Nejati-Zendegani J, Mördrup K, Wood S, Theorell J, Sekine T, Al-Herz W, Akar HH, Belen FB, Chan MY, Devecioglu O, Aksu T, Ifversen M, Malinowska I, Sabel M, Unal E, Unal S, Introne WJ, Krzewski K, Gilmour KC, Ehl S, Ljunggren HG, Nordenskjöld M, Horne A, Henter JI, Meeths M, Bryceson YT. Chiang SCC, et al. Among authors: ehl s. Blood. 2024 Aug 22;144(8):873-887. doi: 10.1182/blood.2024024499. Blood. 2024. PMID: 38958468 Free PMC article.
Correction: Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.
Kögl T, Chang HF, Staniek J, Chiang SCC, Thoulass G, Lao J, Weißert K, Dettmer-Monaco V, Geiger K, Manna PT, Beziat V, Momenilandi M, Tu SM, Keppler SJ, Pattu V, Wolf P, Kupferschmid L, Tholen S, Covill LE, Ebert K, Straub T, Groß M, Gather R, Engel H, Salzer U, Schell C, Maier S, Lehmberg K, Cornu TI, Pircher H, Shahrooei M, Parvaneh N, Elling R, Rizzi M, Bryceson YT, Ehl S, Aichele P, Ammann S. Kögl T, et al. Among authors: ehl s. J Exp Med. 2024 Jul 1;221(7):e2022112205142024c. doi: 10.1084/jem.2022112205142024c. Epub 2024 May 21. J Exp Med. 2024. PMID: 38771261 Free PMC article. No abstract available.
Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.
Kögl T, Chang HF, Staniek J, Chiang SCC, Thoulass G, Lao J, Weißert K, Dettmer-Monaco V, Geiger K, Manna PT, Beziat V, Momenilandi M, Tu SM, Keppler SJ, Pattu V, Wolf P, Kupferschmid L, Tholen S, Covill LE, Ebert K, Straub T, Groß M, Gather R, Engel H, Salzer U, Schell C, Maier S, Lehmberg K, Cornu TI, Pircher H, Shahrooei M, Parvaneh N, Elling R, Rizzi M, Bryceson YT, Ehl S, Aichele P, Ammann S. Kögl T, et al. Among authors: ehl s. J Exp Med. 2024 Jul 1;221(7):e20221122. doi: 10.1084/jem.20221122. Epub 2024 May 9. J Exp Med. 2024. PMID: 38722309 Free PMC article.
Activation of gp130 signaling in T cells drives TH17-mediated multi-organ autoimmunity.
Baumgartner F, Bamopoulos SA, Faletti L, Hsiao HJ, Holz M, Gonzalez-Menendez I, Solé-Boldo L, Horne A, Gosavi S, Özerdem C, Singh N, Liebig S, Ramamoorthy S, Lehmann M, Demel U, Kühl AA, Wartewig T, Ruland J, Wunderlich FT, Schick M, Walther W, Rose-John S, Haas S, Quintanilla-Martinez L, Feske S, Ehl S, Glauben R, Keller U. Baumgartner F, et al. Among authors: ehl s. Sci Signal. 2024 Feb 20;17(824):eadc9662. doi: 10.1126/scisignal.adc9662. Epub 2024 Feb 20. Sci Signal. 2024. PMID: 38377177
265 results