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The enhancer landscape predetermines the skeletal regeneration capacity of stromal cells.
Hochmann S, Ou K, Poupardin R, Mittermeir M, Textor M, Ali S, Wolf M, Ellinghaus A, Jacobi D, Elmiger JAJ, Donsante S, Riminucci M, Schäfer R, Kornak U, Klein O, Schallmoser K, Schmidt-Bleek K, Duda GN, Polansky JK, Geissler S, Strunk D. Hochmann S, et al. Among authors: kornak u. Sci Transl Med. 2023 Mar 22;15(688):eabm7477. doi: 10.1126/scitranslmed.abm7477. Epub 2023 Mar 22. Sci Transl Med. 2023. PMID: 36947595
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.
Terhal P, Venhuizen AJ, Lessel D, Tan WH, Alswaid A, Grün R, Alzaidan HI, von Kroge S, Ragab N, Hempel M, Kubisch C, Novais E, Cristobal A, Tripolszki K, Bauer P, Fischer-Zirnsak B, Nievelstein RAJ, van Dijk A, Nikkels P, Oheim R, Hahn H, Bertoli-Avella A, Maurice MM, Kornak U. Terhal P, et al. Among authors: kornak u. Am J Hum Genet. 2023 Sep 7;110(9):1470-1481. doi: 10.1016/j.ajhg.2023.07.011. Epub 2023 Aug 14. Am J Hum Genet. 2023. PMID: 37582359 Free PMC article.
Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.
Poët M, Kornak U, Schweizer M, Zdebik AA, Scheel O, Hoelter S, Wurst W, Schmitt A, Fuhrmann JC, Planells-Cases R, Mole SE, Hübner CA, Jentsch TJ. Poët M, et al. Among authors: kornak u. Proc Natl Acad Sci U S A. 2006 Sep 12;103(37):13854-9. doi: 10.1073/pnas.0606137103. Epub 2006 Sep 1. Proc Natl Acad Sci U S A. 2006. PMID: 16950870 Free PMC article.
CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.
Barvencik F, Kurth I, Koehne T, Stauber T, Zustin J, Tsiakas K, Ludwig CF, Beil FT, Pestka JM, Hahn M, Santer R, Supanchart C, Kornak U, Del Fattore A, Jentsch TJ, Teti A, Schulz A, Schinke T, Amling M. Barvencik F, et al. Among authors: kornak u. J Bone Miner Res. 2014 Apr;29(4):982-91. doi: 10.1002/jbmr.2100. J Bone Miner Res. 2014. PMID: 24108692 Free article.
160 results