Epigenetic Regulation of Gene Transcription

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Multimodal epigenetic changes and altered NEUROD1 chromatin binding in the mouse hippocampus underlie FOXG1 syndrome

Authors Akol I, Izzo A, Gather F, Strack S, Heidrich S, Ó hAilín D, Villarreal A, Hacker C, Rauleac T, Bella C, Fischer A, Manke T, Vogel T Journal Proceedings of the National Academy of Sciences of the United States of America Citation Proc Natl Acad Sci U S A.
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Engineered skeletal muscle recapitulates human muscle development, regeneration and dystrophy

Authors Shahriyari M, Islam MR, Sakib SM, Rinn M, Rika A, Krüger D, Kaurani L, Gisa V, Winterhoff M, Anandakumar H, Shomroni O, Schmidt M, Salinas G, Unger A, Linke WA, Zschüntzsch J, Schmidt J, Bassel-Duby R, Olson EN, Fischer A, Zimmermann WH, Tiburcy M Journal Journal of Cachexia, Sarcopenia
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Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita

Authors Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altmüller J, Nürnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G Journal Human Genetics Citation Human Genetics. preprint under review. 2022 Abstract Arthrogryposis multiplex congenita forms a broad group of
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WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly

Authors Bögershausen N, Krawczyk HE, Jamra RA, Lin SJ, Yigit G, Hüning I, Polo AM, Vona B, Huang K, Schmidt J, Altmüller J, Luppe J, Platzer K, Dörgeloh BB, Busche A, Biskup S, Mendes MI, Smith DEC, Salomons GS, Zibat A, Bültmann E, Nürnberg P, Spielmann M, Lemke JR, Li
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Aging-Associated Changes in Cognition, Expression and Epigenetic Regulation of Chondroitin 6-Sulfotransferase Chst3

Authors Baidoe-Ansah D, Sakib S, Jia S, Mirzapourdelavar H, Strackeljan L Fischer A, Aleshin S, Kaushik R, Dityatev A Journal Cells Citation Cells 2022, 11(13), 2033. Abstract Understanding changes in the expression of genes involved in regulating various components of the neural extracellular matrix (ECM) during aging can provide an
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Conserved reduction of m6A marks during aging and neurodegeneration is linked to altered translation of synaptic transcripts

Authors Castro-Hernández R, Berulava T, Metelova M, Epple R, Peña Centeno T, Sakib MS, Burkhart S, Ninov M, Bohnsack KE, Bohnsack MT, Delalle I, Fischer A Journal BioRxiv Citation bioRxiv 2022.06.08.495100. Abstract N6-methyladenosine (m6A) plays diverse roles in the regulation of mRNA metabolism. In the mammalian brain it has been
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Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome

Authors Schmidt J, Bremmer F, Brockmann K, Kaulfuß S, Wollnik B Journal Clinical Genetics Citation Clin Genet. 2022 Jun 7. Abstract Proteus syndrome is a very rare disorder with progressive, asymmetrical, and disproportionate overgrowth of body parts with a highly variable phenotype. It is associated with mosaicism for the recurrent
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Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration

Authors Luebben AV, Bender D, Becker S, Crowther LM, Erven I, Hofmann K, Söding J, Klemp H, Bellotti C, Stäuble A, Qiu T, Kathayat RS, Dickinson BC, Gärtner J, Sheldrick GM, Krätzner R, Steinfeld R Journal Science Advances Citation Sci Adv. 2022 Apr 15;8(15):eabj8633. Abstract Genetic CLN5 variants are associated
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Rapidly Signal-enhanced Metabolites for Atomic Scale Monitoring of Living Cells with Magnetic Resonance

Authors Ding Y, Korchak S, Mamone S, Jagtap AP, Stevanato G, Sternkopf S, Moll D, Schroeder H, Becker S, Fischer A, Gerhardt E, Outeiro TF, Opazo F, Griesinger C, Glöggler S Journal Chemistry Methods Citation Chem. Methods 2022, e202200023. Abstract Nuclear magnetic resonance (NMR) is widely applied from analytics to
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Roles and dynamics of 3-methylcytidine in cellular RNAs

Authors Bohnsack KE, Kleiber N, Lemus-Diaz N, Bohnsack MT Journal Trends in Biochemical Sciences Citation Trends Biochem Sci. 2022 Mar 29:S0968-0004(22)00063-9. Abstract Modified nucleotides within cellular RNAs significantly influence their biogenesis, stability, and function. As reviewed here, 3-methylcytidine (m3C) has recently come to the fore through the identification of the
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