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Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
Distelmaier F, Sezer A, Helm C, Waldmüller S, Seibt A, Gangfuß A, Kölbel H, Schara-Schmidt U, Yuksel D, Talim B, Mayatepek E, Nikolin S, Weis J, Roos A, Haack TB. Distelmaier F, et al. Among authors: mayatepek e. Brain. 2024 Apr 18:awae099. doi: 10.1093/brain/awae099. Online ahead of print. Brain. 2024. PMID: 38637313 No abstract available.
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Averdunk L, Huetzen MA, Moreno-Andrés D, Kalb R, McKee S, Hsieh TC, Seibt A, Schouwink M, Lalani S, Faqeih EA, Brunet T, Boor P, Neveling K, Hoischen A, Hildebrandt B, Graf E, Lu L, Jin W, Schaper J, Omer JA, Demaret T, Fleischer N, Schindler D, Krawitz P, Mayatepek E, Wieczorek D, Wang LL, Antonin W, Jachimowicz RD, von Felbert V, Distelmaier F. Averdunk L, et al. Among authors: mayatepek e. Genet Med. 2023 Jul;25(7):100836. doi: 10.1016/j.gim.2023.100836. Epub 2023 Mar 31. Genet Med. 2023. PMID: 37013901 Free article.
Doxycycline Treatment of Mansonella perstans-Infected Individuals Affects Immune Cell Activation and Causes Long-term T-cell Polarization.
Aniagyei W, Adjei JK, Adankwah E, Seyfarth J, Mayatepek E, Antwi Berko D, Sakyi SA, Batsa Debrah L, Debrah AY, Hoerauf A, Owusu DO, Phillips RO, Jacobsen M. Aniagyei W, et al. Among authors: mayatepek e. Clin Infect Dis. 2023 Feb 8;76(3):e1399-e1407. doi: 10.1093/cid/ciac428. Clin Infect Dis. 2023. PMID: 35657028 Clinical Trial.
Cell-based BSEP trans-inhibition: A novel, non-invasive test for diagnosis of antibody-induced BSEP deficiency.
Stindt J, Dröge C, Lainka E, Kathemann S, Pfister ED, Baumann U, Stalke A, Grabhorn E, Shagrani MA, Mozer-Glassberg Y, Hartley J, Wammers M, Klindt C, Philippski P, Liebe R, Herebian D, Mayatepek E, Berg T, Schmidt-Choudhury A, Wiek C, Hanenberg H, Luedde T, Keitel V. Stindt J, et al. Among authors: mayatepek e. JHEP Rep. 2023 Feb 1;5(7):100690. doi: 10.1016/j.jhepr.2023.100690. eCollection 2023 Jul. JHEP Rep. 2023. PMID: 37425215 Free PMC article.
Resilience strengthening in youth with a chronic medical condition: a randomized controlled feasibility trial of a combined app and coaching program.
Bischops AC, Sieper L, Dukart J, Schaal NK, Reinauer C, Oommen PT, Tomoiaga C, David O, Mayatepek E, Meissner T. Bischops AC, et al. Among authors: mayatepek e. Eur Child Adolesc Psychiatry. 2024 Mar 2. doi: 10.1007/s00787-024-02395-w. Online ahead of print. Eur Child Adolesc Psychiatry. 2024. PMID: 38431540
Differences in PPD- and mitogen-induced T-cell activation marker expression characterize immunopathology in acute tuberculosis patients.
Acheampong I, Minadzi D, Laing EF, Frimpong M, Vivekanandan MM, Yeboah A, Adankwah E, Aniagyei W, Arthur JF, Lamptey M, Abass MK, Kumbel F, Osei-Yeboah F, Gawusu A, Debrah LB, Owusu DO, Debrah A, Mayatepek E, Seyfarth J, Phillips RO, Jacobsen M. Acheampong I, et al. Among authors: mayatepek e. Eur J Clin Microbiol Infect Dis. 2024 Mar;43(3):611-616. doi: 10.1007/s10096-023-04741-3. Epub 2024 Jan 3. Eur J Clin Microbiol Infect Dis. 2024. PMID: 38167987 Free PMC article.
Impaired T-cell response to phytohemagglutinin (PHA) in tuberculosis patients is associated with high IL-6 plasma levels and normalizes early during anti-mycobacterial treatment.
Vivekanandan MM, Adankwah E, Aniagyei W, Acheampong I, Minadzi D, Yeboah A, Arthur JF, Lamptey M, Abass MK, Kumbel F, Osei-Yeboah F, Gawusu A, Debrah LB, Owusu DO, Debrah A, Mayatepek E, Seyfarth J, Phillips RO, Jacobsen M. Vivekanandan MM, et al. Among authors: mayatepek e. Infection. 2023 Aug;51(4):1013-1023. doi: 10.1007/s15010-023-01977-1. Epub 2023 Jan 18. Infection. 2023. PMID: 36650358 Free PMC article.
448 results