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Authors Vona B, Regele S, Rad A, Strenzke N, Pater JA, Neumann K, Sturm M, Haack TB, Am Zehnhoff-Dinnesen AG Journal Frontiers in Genetics Citation Front. Genet. 14:1214736. Abstract Genetic heterogeneity makes it difficult to identify the causal genes for hearing loss. Studies from previous decades have mapped numerous genetic

Authors Stewart H, Lu Y, O’Keefe S, Valpadashi A, Cruz-Zaragoza LD, Michel HA, Nguyen SK, Carnell GW, Lukhovitskaya N, Milligan R, Adewusi Y, Jungreis I, Lulla V, Matthews DA, High S, Rehling P, Emmott E, Heeney JL, Davidson AD, Edgar JR, Smith GL, Firth AE Journal iScience Citation iScience. 2023

Authors van Driel K, Rudelt L, Priesemann V, Mikulasch FA Journal Biorxiv Citation bioRxiv 2023.11.16.567335. Abstract Prediction mismatch responses in cortex seem to signal the difference between an internal model of the animal and sensory observations. Often these responses are interpreted as evidence for the existence of error neurons, which

Authors Kalay I, Aykut H, Caliskan Z, Yigit G, Wollnik B Journal Molecular Genetics and Metabolism Reports Citation Mol Genet Metab Rep. 2023 Nov 16;37:101022. Abstract Lysinuric protein intolerance (LPI) is a rare, inherited aminoaciduria caused by biallelic pathogenic variants in the amino acid transporter gene SLC7A7 (OMIM *603593). Individuals

Authors Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O’Connor N, Bhoj EJ, Harr MH, Lemire

Authors Schlotawa l, Matysiak K, Kettwig M, Ahrens-Nicklas RC, Baud M, Berulava T, Brunetti-Pierri N, Gagne A, Herbst ZM, Maguire JA, Monfregola J, Pena T, Radhakrishnan K, Schröder S, Waxman EA, Ballabio A, Dierks T, Fischer A, French DL, Gelb MH, Gärtner J Journal Neuropediatrics Citation Neuropediatrics 2023; 54(S 01):

Authors Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Ghayoor Karimiani E, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Akay Tayfun

Authors Chen Y, Kokic G, Dienemann C, Dybkov O, Urlaub H, Cramer P Journal Nature Structural & Molecular Biology Citation Nat Struct Mol Biol. 2023 Nov 6. Abstract Elongin is a heterotrimeric elongation factor for RNA polymerase (Pol) II transcription that is conserved among metazoa. Here, we report three cryo-EM

Authors Kutschka I, Bertero E, Wasmus C, Xiao K, Yang L, Chen X, Oshima Y, Fischer M, Erk M, Arslan B, Alhasan L, Grosser D, Ermer KJ, Nickel A, Kohlhaas M, Eberl H, Rebs S, Streckfuss-Bömeke K, Schmitz W, Rehling P, Thum T, Higuchi T, Rabinowitz J, Maack C, Dudek

Authors Shi R, Reichardt M, Fiegle DJ, Küpfer LK, Czajka T, Sun Z, Salditt T, Dendorfer A, Seidel T, Bruegmann T Journal Cardiovascular Research Citation Cardiovasc Res. 2023 Nov 2:cvad141. Abstract Aims: Cardiotoxicity is one major reason why drugs do not enter or are withdrawn from the market. Thus, approaches