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Page 1
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann … See abstract for full author list ➔ Schmidt A, et al. Among authors: kallinich t. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.
Single-cell microbiota phenotyping reveals distinct disease and therapy-associated signatures in Crohn's disease.
Budzinski L, Kang GU, Riedel R, Sempert T, Lietz L, Maier R, Büttner J, Bochow B, Tordai MT, Shah A, Abbas A, Momtaz T, Krause JL, Kempkens R, Lehman K, Heinz GA, Benken AE, Bartsch S, Necke K, Hoffmann U, Mashreghi MF, Biesen R, Kallinich T, Alexander T, Jessen B, Weidinger C, Siegmund B, Radbruch A, Schirbel A, Moser B, Chang HD. Budzinski L, et al. Among authors: kallinich t. Gut Microbes. 2025 Dec;17(1):2452250. doi: 10.1080/19490976.2025.2452250. Epub 2025 Jan 15. Gut Microbes. 2025. PMID: 39815413 Free PMC article.
Age-stratification reveals age-specific intestinal microbiota signatures in juvenile idiopathic arthritis.
Budzinski L, Sempert T, Lietz L, Maier R, Kang GU, von Stuckrad ASL, Goetzke CC, Roth M, Shah A, Abbas A, Lehman K, Necke K, Bartsch S, Hoffmann U, Mashreghi MF, Biesen R, Kallinich T, Chang HD. Budzinski L, et al. Among authors: kallinich t. Mol Cell Pediatr. 2024 Dec 10;11(1):12. doi: 10.1186/s40348-024-00186-6. Mol Cell Pediatr. 2024. PMID: 39653980 Free PMC article.
Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.
Lengvári L, Takács K, Lengyel A, Pálinkás A, Wouters CH, Koné-Paut I, Kuemmerle-Deschner J, Jeyaratnam J, Anton J, Lachmann HJ, Gattorno M, Hofer M, Toplak N, Weiser P, Kallinich T, Ozen S, Hentgen V, Uziel Y, Horváth Z, Szabados M, Brogan P, Constantin T, Frenkel J. Lengvári L, et al. Among authors: kallinich t. Front Immunol. 2024 Nov 12;15:1466844. doi: 10.3389/fimmu.2024.1466844. eCollection 2024. Front Immunol. 2024. PMID: 39600705 Free PMC article. Review.
Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever.
Elhani I, Backes S, Kallinich T, Amaryan G, Belot A, Berendes R, Berger T, Dressler F, Foell D, Fühner S, Giese A, Hinze C, Hitzegrad AL, Horneff G, Jansson A, Klotsche J, Lainka E, Niehues T, Oommen P, Haas JP, Rietschel C, Theodoropoulo K, Vinit C, Weissbarth-Riedel E, Hentgen V, Wittkowski H. Elhani I, et al. Among authors: kallinich t. RMD Open. 2024 Nov 24;10(4):e004677. doi: 10.1136/rmdopen-2024-004677. RMD Open. 2024. PMID: 39581688 Free PMC article.
Physical (in)activity and screen-based media use of adolescents with juvenile idiopathic arthritis over time - data from a German inception cohort.
Milatz F, Pedersen MJ, Klotsche J, Liedmann I, Niewerth M, Hospach A, Horneff G, Klein A, Weller-Heinemann F, Foeldvari I, Kallinich T, Haas JP, Windschall D, Dressler F, Foell D, Kuemmerle-Deschner JB, Minden K. Milatz F, et al. Among authors: kallinich t. Pediatr Rheumatol Online J. 2024 Oct 21;22(1):93. doi: 10.1186/s12969-024-01027-6. Pediatr Rheumatol Online J. 2024. PMID: 39434096 Free PMC article.
Glucose-oxygen deprivation constrains HMGCR function and Rac1 prenylation and activates the NLRP3 inflammasome in human monocytes.
Raulien N, Friedrich K, Strobel S, Raps S, Hecker F, Pierer M, Schilling E, Lainka E, Kallinich T, Baumann S, Fritz-Wallace K, Rolle-Kampczyk U, von Bergen M, Aigner A, Ewe A, Schett G, Cross M, Rossol M, Wagner U. Raulien N, et al. Among authors: kallinich t. Sci Signal. 2024 Jul 16;17(845):eadd8913. doi: 10.1126/scisignal.add8913. Epub 2024 Jul 16. Sci Signal. 2024. PMID: 39012939
145 results