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2019 4
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14 results

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Page 1
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S. Ebstein F, et al. Among authors: feichtinger rg. Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31. Sci Transl Med. 2023. PMID: 37256937 Free PMC article.
Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.
Weis D, Lin LL, Wang HH, Li ZJ, Kusikova K, Ciznar P, Wolf HM, Leiss-Piller A, Wang Z, Wei X, Weis S, Skalicka K, Hrckova G, Danisovic L, Soltysova A, Yang TT, Feichtinger RG, Mayr JA, Qi L. Weis D, et al. Among authors: feichtinger rg. J Clin Invest. 2024 Jan 16;134(2):e170882. doi: 10.1172/JCI170882. J Clin Invest. 2024. PMID: 37943617 Free PMC article.
The Influence of Ketogenic Diets on Psoriasiform-Like Skin Inflammation.
Sternberg F, Leitner J, Aminzadeh-Gohari S, Weber DD, Sanio P, Koller A, Feichtinger RG, Weiss R, Kofler B, Lang R. Sternberg F, et al. Among authors: feichtinger rg. J Invest Dermatol. 2020 Mar;140(3):707-710.e7. doi: 10.1016/j.jid.2019.07.718. Epub 2019 Oct 17. J Invest Dermatol. 2020. PMID: 31630847 Free article. No abstract available.
A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I.
Gonzalez Melo M, Fontana AO, Viertl D, Allenbach G, Prior JO, Rotman S, Feichtinger RG, Mayr JA, Costanzo M, Caterino M, Ruoppolo M, Braissant O, Barbey F, Ballhausen D. Gonzalez Melo M, et al. Among authors: feichtinger rg. Mol Genet Metab. 2021 Dec;134(4):287-300. doi: 10.1016/j.ymgme.2021.10.003. Epub 2021 Nov 10. Mol Genet Metab. 2021. PMID: 34799272 Free article.
Inducing cancer indolence by targeting mitochondrial Complex I is potentiated by blocking macrophage-mediated adaptive responses.
Kurelac I, Iommarini L, Vatrinet R, Amato LB, De Luise M, Leone G, Girolimetti G, Umesh Ganesh N, Bridgeman VL, Ombrato L, Columbaro M, Ragazzi M, Gibellini L, Sollazzo M, Feichtinger RG, Vidali S, Baldassarre M, Foriel S, Vidone M, Cossarizza A, Grifoni D, Kofler B, Malanchi I, Porcelli AM, Gasparre G. Kurelac I, et al. Among authors: feichtinger rg. Nat Commun. 2019 Feb 22;10(1):903. doi: 10.1038/s41467-019-08839-1. Nat Commun. 2019. PMID: 30796225 Free PMC article.
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.
Gonzalez Melo M, Remacle N, Cudré-Cung HP, Roux C, Poms M, Cudalbu C, Barroso M, Gersting SW, Feichtinger RG, Mayr JA, Costanzo M, Caterino M, Ruoppolo M, Rüfenacht V, Häberle J, Braissant O, Ballhausen D. Gonzalez Melo M, et al. Among authors: feichtinger rg. Mol Genet Metab. 2021 Jun;133(2):157-181. doi: 10.1016/j.ymgme.2021.03.017. Epub 2021 Apr 18. Mol Genet Metab. 2021. PMID: 33965309 Free article.
Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy.
Kušíková K, Feichtinger RG, Csillag B, Kalev OK, Weis S, Duba HC, Mayr JA, Weis D. Kušíková K, et al. Among authors: feichtinger rg. Front Pediatr. 2021 Apr 16;9:660076. doi: 10.3389/fped.2021.660076. eCollection 2021. Front Pediatr. 2021. PMID: 33937156 Free PMC article.
14 results