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Page 1
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Among authors: richter mf. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
Impairment of the neurotrophic signaling hub B-Raf contributes to motoneuron degeneration in spinal muscular atrophy.
Hensel N, Cieri F, Santonicola P, Tapken I, Schüning T, Taiana M, Pagliari E, Joseph A, Fischer S, Heidrich N, Brinkmann H, Kubinski S, Bergmann AK, Richter MF, Jung K, Corti S, Di Schiavi E, Claus P. Hensel N, et al. Among authors: richter mf. Proc Natl Acad Sci U S A. 2021 May 4;118(18):e2007785118. doi: 10.1073/pnas.2007785118. Proc Natl Acad Sci U S A. 2021. PMID: 33931501 Free PMC article.
SARS-CoV-2 Infection During Pregnancy.
Pecks U, Mand N, Kolben T, Rüdiger M, Oppelt P, Zöllkau J, Dempfle A; The CRONOS registry. Pecks U, et al. Dtsch Arztebl Int. 2022 Sep 5;119(35-36):588-594. doi: 10.3238/arztebl.m2022.0266. Dtsch Arztebl Int. 2022. PMID: 35794736 Free PMC article.
Constitutive TNF-α signaling in neonates is essential for the development of tissue-resident leukocyte profiles at barrier sites.
Bickes MS, Pirr S, Heinemann AS, Fehlhaber B, Halle S, Völlger L, Willers M, Richter M, Böhne C, Albrecht M, Langer M, Pfeifer S, Jonigk D, Vieten G, Ure B, von Kaisenberg C, Förster R, von Köckritz-Blickwede M, Hansen G, Viemann D. Bickes MS, et al. FASEB J. 2019 Oct;33(10):10633-10647. doi: 10.1096/fj.201900796R. Epub 2019 Jun 29. FASEB J. 2019. PMID: 31262195
Evolution of Fetal Growth in Symptomatic Sars-Cov-2 Pregnancies.
Hachenberg J, Guenther J, Steinkasserer L, Brodowski L, Dueppers AL, Delius M, Chiaie LD, Lobmaier S, Sourouni M, Richter MF, Manz J, Parchmann O, Schmidt S, Winkler J, Werring P, Kraft K, Kunze M, Manz M, Eichler C, Schaefer V, Berghaeuser M, Schlembach D, Seeger S, Schäfer-Graf U, Kyvernitakis I, Bohlmann MK, Ramsauer B, Morfeld CA, Ruediger M, Pecks U, von Kaisenberg C. Hachenberg J, et al. Among authors: richter mf. Z Geburtshilfe Neonatol. 2024 Feb;228(1):57-64. doi: 10.1055/a-2224-2262. Epub 2024 Feb 8. Z Geburtshilfe Neonatol. 2024. PMID: 38330960 English.
Phage-assisted evolution and protein engineering yield compact, efficient prime editors.
Doman JL, Pandey S, Neugebauer ME, An M, Davis JR, Randolph PB, McElroy A, Gao XD, Raguram A, Richter MF, Everette KA, Banskota S, Tian K, Tao YA, Tolar J, Osborn MJ, Liu DR. Doman JL, et al. Among authors: richter mf. Cell. 2023 Aug 31;186(18):3983-4002.e26. doi: 10.1016/j.cell.2023.07.039. Cell. 2023. PMID: 37657419 Free PMC article.
Base editing rescue of spinal muscular atrophy in cells and in mice.
Arbab M, Matuszek Z, Kray KM, Du A, Newby GA, Blatnik AJ, Raguram A, Richter MF, Zhao KT, Levy JM, Shen MW, Arnold WD, Wang D, Xie J, Gao G, Burghes AHM, Liu DR. Arbab M, et al. Among authors: richter mf. Science. 2023 Apr 21;380(6642):eadg6518. doi: 10.1126/science.adg6518. Epub 2023 Apr 14. Science. 2023. PMID: 36996170 Free PMC article.
58 results