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114 results

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Page 1
High prevalence of extracutaneous involvement in ITG junctional epidermolysis bullosa.
Bonigen J, Charbit-Henrion F, Leclerc-Mercier S, Rosenthal JM, Bursztejn AC, Berthaud R, Steffan J, Chiaverini C, Hadj-Rabia S, Bodemer C. Bonigen J, et al. Among authors: steffan j. J Eur Acad Dermatol Venereol. 2025 Feb 19. doi: 10.1111/jdv.20579. Online ahead of print. J Eur Acad Dermatol Venereol. 2025. PMID: 39969087 No abstract available.
Aberrant splicing in Huntington's disease accompanies disrupted TDP-43 activity and altered m6A RNA modification.
Nguyen TB, Miramontes R, Chillon-Marinas C, Maimon R, Vazquez-Sanchez S, Lau AL, McClure NR, Wu Z, Wang KQ, England WE, Singha M, Stocksdale JT, Heath M, Jang KH, Jung S, Ling K, Jafar-Nejad P, McKnight JI, Ho LN, Dalahmah OA, Faull RLM, Steffan JS, Reidling JC, Jang C, Lee G, Cleveland DW, Lagier-Tourenne C, Spitale RC, Thompson LM. Nguyen TB, et al. Among authors: steffan js. Nat Neurosci. 2025 Feb;28(2):280-292. doi: 10.1038/s41593-024-01850-w. Epub 2025 Jan 6. Nat Neurosci. 2025. PMID: 39762660 Free PMC article.
Huntingtin contains an ubiquitin-binding domain and regulates lysosomal targeting of mitochondrial and RNA-binding proteins.
Fote GM, Eapen VV, Lim RG, Yu C, Salazar L, McClure NR, McKnight J, Nguyen TB, Heath MC, Lau AL, Villamil MA, Miramontes R, Kratter IH, Finkbeiner S, Reidling JC, Paulo JA, Kaiser P, Huang L, Housman DE, Thompson LM, Steffan JS. Fote GM, et al. Among authors: steffan js. Proc Natl Acad Sci U S A. 2024 Aug 6;121(32):e2319091121. doi: 10.1073/pnas.2319091121. Epub 2024 Jul 29. Proc Natl Acad Sci U S A. 2024. PMID: 39074279 Free PMC article.
Aberrant splicing in Huntington's disease via disrupted TDP-43 activity accompanied by altered m6A RNA modification.
Nguyen TB, Miramontes R, Chillon-Marinas C, Maimon R, Vazquez-Sanchez S, Lau AL, McClure NR, England WE, Singha M, Stocksdale JT, Jang KH, Jung S, McKnight JI, Ho LN, Faull RLM, Steffan JS, Reidling JC, Jang C, Lee G, Cleveland DW, Lagier-Tourenne C, Spitale RC, Thompson LM. Nguyen TB, et al. Among authors: steffan js. bioRxiv [Preprint]. 2023 Nov 2:2023.10.31.565004. doi: 10.1101/2023.10.31.565004. bioRxiv. 2023. Update in: Nat Neurosci. 2025 Feb;28(2):280-292. doi: 10.1038/s41593-024-01850-w. PMID: 37961595 Free PMC article. Updated. Preprint.
Regulation of SPDEF expression by DNA methylation in advanced prostate cancer.
Vatanmakanian M, Steffan JJ, Koul S, Ochoa AC, Chaturvedi LS, Koul HK. Vatanmakanian M, et al. Among authors: steffan jj. Front Endocrinol (Lausanne). 2023 Oct 11;14:1156120. doi: 10.3389/fendo.2023.1156120. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37900138 Free PMC article.
One-year outcomes of transcatheter tricuspid valve repair with the Mistral device.
Piayda K, Bertog S, Steffan J, Ilioska-Damköhler P, Beeri R, Sievert K, Sievert H, Yaron I, Danenberg HD. Piayda K, et al. Among authors: steffan j. EuroIntervention. 2023 Jul 17;19(4):e363-e365. doi: 10.4244/EIJ-D-22-01032. EuroIntervention. 2023. PMID: 36912107 Free PMC article. No abstract available.
114 results