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Biallelic variants in YRDC cause a developmental disorder with progeroid features.
Schmidt J, Goergens J, Pochechueva T, Kotter A, Schwenzer N, Sitte M, Werner G, Altmüller J, Thiele H, Nürnberg P, Isensee J, Li Y, Müller C, Leube B, Reinhardt HC, Hucho T, Salinas G, Helm M, Jachimowicz RD, Wieczorek D, Kohl T, Lehnart SE, Yigit G, Wollnik B. Schmidt J, et al. Among authors: salinas g. Hum Genet. 2021 Dec;140(12):1679-1693. doi: 10.1007/s00439-021-02347-3. Epub 2021 Sep 20. Hum Genet. 2021. PMID: 34545459 Free PMC article.
Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy.
Hanses U, Kleinsorge M, Roos L, Yigit G, Li Y, Barbarics B, El-Battrawy I, Lan H, Tiburcy M, Hindmarsh R, Lenz C, Salinas G, Diecke S, Müller C, Adham I, Altmüller J, Nürnberg P, Paul T, Zimmermann WH, Hasenfuss G, Wollnik B, Cyganek L. Hanses U, et al. Among authors: salinas g. Circulation. 2020 Sep 15;142(11):1059-1076. doi: 10.1161/CIRCULATIONAHA.119.044794. Epub 2020 Jul 6. Circulation. 2020. PMID: 32623905
The folate antagonist methotrexate diminishes replication of the coronavirus SARS-CoV-2 and enhances the antiviral efficacy of remdesivir in cell culture models.
Stegmann KM, Dickmanns A, Gerber S, Nikolova V, Klemke L, Manzini V, Schlösser D, Bierwirth C, Freund J, Sitte M, Lugert R, Salinas G, Meister TL, Pfaender S, Görlich D, Wollnik B, Groß U, Dobbelstein M. Stegmann KM, et al. Among authors: salinas g. Virus Res. 2021 Sep;302:198469. doi: 10.1016/j.virusres.2021.198469. Epub 2021 Jun 6. Virus Res. 2021. PMID: 34090962 Free PMC article.
CHARGE syndrome and related disorders: a mechanistic link.
Ufartes R, Grün R, Salinas G, Sitte M, Kahl F, Wong MTY, van Ravenswaaij-Arts CMA, Pauli S. Ufartes R, et al. Among authors: salinas g. Hum Mol Genet. 2021 Nov 16;30(23):2215-2224. doi: 10.1093/hmg/ddab183. Hum Mol Genet. 2021. PMID: 34230955
Prdm12 modulates pain-related behavior by remodeling gene expression in mature nociceptors.
Latragna A, Sabaté San José A, Tsimpos P, Vermeiren S, Gualdani R, Chakrabarti S, Callejo G, Desiderio S, Shomroni O, Sitte M, Kricha S, Luypaert M, Vanhollebeke B, Laumet G, Salinas G, Smith ESJ, Ris L, Bellefroid EJ. Latragna A, et al. Among authors: salinas g. Pain. 2022 Aug 1;163(8):e927-e941. doi: 10.1097/j.pain.0000000000002536. Epub 2021 Dec 24. Pain. 2022. PMID: 34961757 Free PMC article.
260 results