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353 results

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Novel mutation and expanding phenotype in IRF2BP2 deficiency.
Körholz J, Gabrielyan A, Sczakiel HL, Schulze L, Rejzek M, Laass MW, Leuchten N, Tiebel O, Aust D, Conrad K, Röber N, Jacobsen EM, Ehmke N, Berner R, Lucas N, Lee-Kirsch MA, Wiedemuth R, Roesler J, Roers A, Amendt T, Schuetz C. Körholz J, et al. Among authors: lucas n. Rheumatology (Oxford). 2023 Apr 3;62(4):1699-1705. doi: 10.1093/rheumatology/keac575. Rheumatology (Oxford). 2023. PMID: 36193988
PNPT1 mutations may cause Aicardi-Goutières-Syndrome.
Bamborschke D, Kreutzer M, Koy A, Koerber F, Lucas N, Huenseler C, Herkenrath P, Lee-Kirsch MA, Cirak S. Bamborschke D, et al. Among authors: lucas n. Brain Dev. 2021 Feb;43(2):320-324. doi: 10.1016/j.braindev.2020.10.005. Epub 2020 Nov 4. Brain Dev. 2021. PMID: 33158637
Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases.
Wan R, Fänder J, Zakaraia I, Lee-Kirsch MA, Wolf C, Lucas N, Olfe LI, Hendrich C, Jonigk D, Holzinger D, Steindor M, Schmidt G, Davenport C, Klemann C, Schwerk N, Griese M, Schlegelberger B, Stehling F, Happle C, Auber B, Steinemann D, Wetzke M, von Hardenberg S. Wan R, et al. Among authors: lucas n. Front Immunol. 2022 Oct 6;13:1029423. doi: 10.3389/fimmu.2022.1029423. eCollection 2022. Front Immunol. 2022. PMID: 36275728 Free PMC article.
Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation.
Tüngler V, Doebler-Neumann M, Salandin M, Kaufmann P, Wolf C, Lucas N, Harmuth F, Reichbauer J, Krägeloh-Mann I, Schüle R, Lee-Kirsch MA. Tüngler V, et al. Among authors: lucas n. Neurol Genet. 2019 Dec 19;6(1):e384. doi: 10.1212/NXG.0000000000000384. eCollection 2020 Feb. Neurol Genet. 2019. PMID: 32042913 Free PMC article. No abstract available.
SAMHD1 controls innate immunity by regulating condensation of immunogenic self RNA.
Maharana S, Kretschmer S, Hunger S, Yan X, Kuster D, Traikov S, Zillinger T, Gentzel M, Elangovan S, Dasgupta P, Chappidi N, Lucas N, Maser KI, Maatz H, Rapp A, Marchand V, Chang YT, Motorin Y, Hubner N, Hartmann G, Hyman AA, Alberti S, Lee-Kirsch MA. Maharana S, et al. Among authors: lucas n. Mol Cell. 2022 Oct 6;82(19):3712-3728.e10. doi: 10.1016/j.molcel.2022.08.031. Epub 2022 Sep 22. Mol Cell. 2022. PMID: 36150385 Free article.
SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility.
Günther C, Lee-Kirsch MA, Eckhard J, Matanovic A, Kerscher T, Rüschendorf F, Klein B, Berndt N, Zimmermann N, Flachmeier C, Thuß T, Lucas N, Marenholz I, Esparza-Gordillo J, Hübner N, Traupe H, Delaporte E, Lee YA. Günther C, et al. Among authors: lucas n. J Invest Dermatol. 2018 Jun;138(6):1428-1431. doi: 10.1016/j.jid.2018.01.015. Epub 2018 Feb 1. J Invest Dermatol. 2018. PMID: 29409814 Free article. No abstract available.
353 results