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Pro-inflammatory NK-like T cells are expanded in the blood and inflamed intestine in Crohn's disease.
Chiarolla CM, Schulz AR, Meir M, Ferrara S, Xiao Y, Reu-Hofer S, Romero-Olmedo AJ, Falcone V, Hoffmann K, Büttner-Herold M, Prelog M, Rosenwald A, Hengel H, Lohoff M, Chang HD, Schlegel N, Mei HE, Berberich-Siebelt F. Chiarolla CM, et al. Among authors: hengel h. Mucosal Immunol. 2024 Nov 7:S1933-0219(24)00109-0. doi: 10.1016/j.mucimm.2024.11.001. Online ahead of print. Mucosal Immunol. 2024. PMID: 39521274 Free article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
In Vitro Profiling of the Antiviral Peptide TAT-I24.
Ziu T, Sambur E, Ruzsics Z, Hengel H, Grabherr R, Höfinger S, Harant H. Ziu T, et al. Among authors: hengel h. Int J Mol Sci. 2024 Sep 28;25(19):10463. doi: 10.3390/ijms251910463. Int J Mol Sci. 2024. PMID: 39408791 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
Iruzubieta P, Alves CAPF, Al Shamsi AM, ElGhazali G, Zaki MS, Pinelli L, Lopergolo D, Cho BPH, Jolly AA, Al Futaisi A, Al-Amrani F, Galli J, Fazzi E, Vulin K, Barajas-Olmos F, Hengel H, Aljamal BM, Nasr V, Assarzadegan F, Ragno M, Trojano L, Ojeda NM, Çakar A, Bianchi S, Pescini F, Poggesi A, Al Tenalji A, Aziz M, Mohammad R, Chedrawi A, De Stefano N, Zifarelli G, Schöls L, Haack TB, Rebelo A, Zuchner S, Koc F, Griffiths LR, Orozco L, Helmes KG, Babaei M, Bauer P, Chan Jeong W, Karimiani EG, Schmidts M, Gleeson JG, Chung WK, Alkuraya FS, Shalbafan B, Markus HS, Houlden H, Maroofian R. Iruzubieta P, et al. Among authors: hengel h. EBioMedicine. 2024 Sep;107:105297. doi: 10.1016/j.ebiom.2024.105297. Epub 2024 Aug 26. EBioMedicine. 2024. PMID: 39191170 Free PMC article.
Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
Schmitz AS, Raju J, Köhler W, Klebe S, Cheheb K, Reschke F, Biskup S, Haack TB, Roeben B, Kellner M, Rahner N, Bloch T, Lemke J, Bender B, Schöls L, Hengel H, Hayer SN. Schmitz AS, et al. Among authors: hengel h. J Neurol. 2024 Sep;271(9):6025-6037. doi: 10.1007/s00415-024-12557-0. Epub 2024 Jul 20. J Neurol. 2024. PMID: 39031193 Free PMC article.
Informing pandemic management in Germany with trustworthy living evidence syntheses and guideline development: lessons learned from the COVID-19 evidence ecosystem.
Kunzler AM, Iannizzi C, Burns J, Metzendorf MI, Voigt-Radloff S, Piechotta V, Schmaderer C, Holzmann-Littig C, Balzer F, Benstoem C, Binder H, Boeker M, Dirnagl U, Fichtner F, Golinski M, Grundmann H, Hengel H, Jabs J, Kern WV, Kopp I, Kranke P, Kreuzberger N, Laudi S, Lichtner G, Lieb K, Maun A, Moerer O, Müller A, Mutters NT, Nothacker M, Pfadenhauer LM, Popp M, Rüschemeyer G, Schmucker C, Schwingshackl L, Spies C, Steckelberg A, Stegemann M, Strech D, von Dincklage F, Weibel S, Wunderlich MM, Zöller D, Rehfuess E, Skoetz N, Meerpohl JJ; CEOsys Consortium. Kunzler AM, et al. Among authors: hengel h. J Clin Epidemiol. 2024 Sep;173:111456. doi: 10.1016/j.jclinepi.2024.111456. Epub 2024 Jul 14. J Clin Epidemiol. 2024. PMID: 39002765 Free article.
271 results