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Page 1
Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation.
Cuello F, Knaust AE, Saleem U, Loos M, Raabe J, Mosqueira D, Laufer S, Schweizer M, van der Kraak P, Flenner F, Ulmer BM, Braren I, Yin X, Theofilatos K, Ruiz-Orera J, Patone G, Klampe B, Schulze T, Piasecki A, Pinto Y, Vink A, Hübner N, Harding S, Mayr M, Denning C, Eschenhagen T, Hansen A. Cuello F, et al. EMBO Mol Med. 2021 Jun 7;13(6):e13074. doi: 10.15252/emmm.202013074. Epub 2021 May 16. EMBO Mol Med. 2021. PMID: 33998164 Free PMC article.
A trans locus causes a ribosomopathy in hypertrophic hearts that affects mRNA translation in a protein length-dependent fashion.
Witte F, Ruiz-Orera J, Mattioli CC, Blachut S, Adami E, Schulz JF, Schneider-Lunitz V, Hummel O, Patone G, Mücke MB, Šilhavý J, Heinig M, Bottolo L, Sanchis D, Vingron M, Chekulaeva M, Pravenec M, Hubner N, van Heesch S. Witte F, et al. Genome Biol. 2021 Jun 28;22(1):191. doi: 10.1186/s13059-021-02397-w. Genome Biol. 2021. PMID: 34183069 Free PMC article.
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.
Reichart D, Lindberg EL, Maatz H, Miranda AMA, Viveiros A, Shvetsov N, Gärtner A, Nadelmann ER, Lee M, Kanemaru K, Ruiz-Orera J, Strohmenger V, DeLaughter DM, Patone G, Zhang H, Woehler A, Lippert C, Kim Y, Adami E, Gorham JM, Barnett SN, Brown K, Buchan RJ, Chowdhury RA, Constantinou C, Cranley J, Felkin LE, Fox H, Ghauri A, Gummert J, Kanda M, Li R, Mach L, McDonough B, Samari S, Shahriaran F, Yapp C, Stanasiuk C, Theotokis PI, Theis FJ, van den Bogaerdt A, Wakimoto H, Ware JS, Worth CL, Barton PJR, Lee YA, Teichmann SA, Milting H, Noseda M, Oudit GY, Heinig M, Seidman JG, Hubner N, Seidman CE. Reichart D, et al. Among authors: ruiz orera j. Science. 2022 Aug 5;377(6606):eabo1984. doi: 10.1126/science.abo1984. Epub 2022 Aug 5. Science. 2022. PMID: 35926050 Free PMC article.
Integrative analysis of macrophage ribo-Seq and RNA-Seq data define glucocorticoid receptor regulated inflammatory response genes into distinct regulatory classes.
Ansari SA, Dantoft W, Ruiz-Orera J, Syed AP, Blachut S, van Heesch S, Hübner N, Uhlenhaut NH. Ansari SA, et al. Among authors: ruiz orera j. Comput Struct Biotechnol J. 2022 Oct 3;20:5622-5638. doi: 10.1016/j.csbj.2022.09.042. eCollection 2022. Comput Struct Biotechnol J. 2022. PMID: 36284713 Free PMC article.
Dynamic interplay between RPL3- and RPL3L-containing ribosomes modulates mitochondrial activity in the mammalian heart.
Milenkovic I, Santos Vieira HG, Lucas MC, Ruiz-Orera J, Patone G, Kesteven S, Wu J, Feneley M, Espadas G, Sabidó E, Hübner N, van Heesch S, Völkers M, Novoa EM. Milenkovic I, et al. Among authors: ruiz orera j. Nucleic Acids Res. 2023 Jun 23;51(11):5301-5324. doi: 10.1093/nar/gkad121. Nucleic Acids Res. 2023. PMID: 36882085 Free PMC article.
Evolution and implications of de novo genes in humans.
Broeils LA, Ruiz-Orera J, Snel B, Hubner N, van Heesch S. Broeils LA, et al. Among authors: ruiz orera j. Nat Ecol Evol. 2023 Jun;7(6):804-815. doi: 10.1038/s41559-023-02014-y. Epub 2023 Mar 16. Nat Ecol Evol. 2023. PMID: 36928843 Review.
Evolutionary origins and interactomes of human, young microproteins and small peptides translated from short open reading frames.
Sandmann CL, Schulz JF, Ruiz-Orera J, Kirchner M, Ziehm M, Adami E, Marczenke M, Christ A, Liebe N, Greiner J, Schoenenberger A, Muecke MB, Liang N, Moritz RL, Sun Z, Deutsch EW, Gotthardt M, Mudge JM, Prensner JR, Willnow TE, Mertins P, van Heesch S, Hubner N. Sandmann CL, et al. Among authors: ruiz orera j. Mol Cell. 2023 Mar 16;83(6):994-1011.e18. doi: 10.1016/j.molcel.2023.01.023. Epub 2023 Feb 17. Mol Cell. 2023. PMID: 36806354 Free PMC article.
Standardized annotation of translated open reading frames.
Mudge JM, Ruiz-Orera J, Prensner JR, Brunet MA, Calvet F, Jungreis I, Gonzalez JM, Magrane M, Martinez TF, Schulz JF, Yang YT, Albà MM, Aspden JL, Baranov PV, Bazzini AA, Bruford E, Martin MJ, Calviello L, Carvunis AR, Chen J, Couso JP, Deutsch EW, Flicek P, Frankish A, Gerstein M, Hubner N, Ingolia NT, Kellis M, Menschaert G, Moritz RL, Ohler U, Roucou X, Saghatelian A, Weissman JS, van Heesch S. Mudge JM, et al. Nat Biotechnol. 2022 Jul;40(7):994-999. doi: 10.1038/s41587-022-01369-0. Nat Biotechnol. 2022. PMID: 35831657 Free PMC article. No abstract available.
28 results