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Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting.
J Med Genet. 2021 Mar;58(3):173-176. doi: 10.1136/jmedgenet-2020-106868. Epub 2020 May 23.
J Med Genet. 2021.
PMID: 32447323
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
Lausberg E, Gießelmann S, Dewulf JP, Wiame E, Holz A, Salvarinova R, van Karnebeek CD, Klemm P, Ohl K, Mull M, Braunschweig T, Weis J, Sommer CJ, Demuth S, Haase C, Stollbrink-Peschgens C, Debray FG, Libioulle C, Choukair D, Oommen PT, Borkhardt A, Surowy H, Wieczorek D, Wagner N, Meyer R, Eggermann T, Begemann M, Van Schaftingen E, Häusler M, Tenbrock K, van den Heuvel L, Elbracht M, Kurth I, Kraft F.
Lausberg E, et al.
J Clin Invest. 2021 Jun 15;131(12):e143078. doi: 10.1172/JCI143078.
J Clin Invest. 2021.
PMID: 33945503
Free PMC article.
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Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
Hedberg-Oldfors C, Meyer R, Nolte K, Abdul Rahim Y, Lindberg C, Karason K, Thuestad IJ, Visuttijai K, Geijer M, Begemann M, Kraft F, Lausberg E, Hitpass L, Götzl R, Luna EJ, Lochmüller H, Koschmieder S, Gramlich M, Gess B, Elbracht M, Weis J, Kurth I, Oldfors A, Knopp C.
Hedberg-Oldfors C, et al. Among authors: lausberg e.
Brain. 2020 Aug 1;143(8):2406-2420. doi: 10.1093/brain/awaa206.
Brain. 2020.
PMID: 32779703
Free PMC article.
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A Hypercaloric Diet Induces Early Podocyte Damage in Aged, Non-Diabetic Rats.
Seikrit C, Lausberg E, Buhl EM, Gaspar R, Tabi T, Heffer M, Ducza E, Sztojkov-Ivanov A, Seres AB, Szucs K, Ivic V, Floege J, Vari SG, Boor P, Klinkhammer BM.
Seikrit C, et al. Among authors: lausberg e.
Cell Physiol Biochem. 2021 Dec 23;55(S4):96-112. doi: 10.33594/000000476.
Cell Physiol Biochem. 2021.
PMID: 34936286
Free article.
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Nucleolar-nucleoplasmic shuttling of TARG1 and its control by DNA damage-induced poly-ADP-ribosylation and by nucleolar transcription.
Bütepage M, Preisinger C, von Kriegsheim A, Scheufen A, Lausberg E, Li J, Kappes F, Feederle R, Ernst S, Eckei L, Krieg S, Müller-Newen G, Rossetti G, Feijs KLH, Verheugd P, Lüscher B.
Bütepage M, et al. Among authors: lausberg e.
Sci Rep. 2018 Apr 30;8(1):6748. doi: 10.1038/s41598-018-25137-w.
Sci Rep. 2018.
PMID: 29712969
Free PMC article.
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Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability.
Knopp C, Steiner R, Lausberg E, Hoegen CV, Busse S, Meyer R, Eggermann K, Schüler H, Begemann M, Eggermann T, Kurth I, Schulz JB, Elbracht M, Maier A.
Knopp C, et al. Among authors: lausberg e.
Dtsch Arztebl Int. 2022 Dec 27;119(51-52):895-896. doi: 10.3238/arztebl.m2022.0312.
Dtsch Arztebl Int. 2022.
PMID: 36892325
Free PMC article.
No abstract available.
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PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.
Kampmeier A, Leitão E, Parenti I, Beygo J, Depienne C, Bramswig NC, Hsieh TC, Afenjar A, Beck-Wödl S, Grasshoff U, Haack TB, Bijlsma EK, Ruivenkamp C, Lausberg E, Elbracht M, Haanpää MK, Koillinen H, Heinrich U, Rost I, Jamra RA, Popp D, Koch-Hogrebe M, Rostasy K, López-González V, Sanchez-Soler MJ, Macedo C, Schmetz A, Steinborn C, Weidensee S, Lesmann H, Marbach F, Caro P, Schaaf CP, Krawitz P, Wieczorek D, Kaiser FJ, Kuechler A.
Kampmeier A, et al. Among authors: lausberg e.
Front Cell Dev Biol. 2023 Jan 16;10:1020609. doi: 10.3389/fcell.2022.1020609. eCollection 2022.
Front Cell Dev Biol. 2023.
PMID: 36726590
Free PMC article.
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