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Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation.
Howaldt A, Hennig AF, Rolvien T, Rössler U, Stelzer N, Knaus A, Böttger S, Zustin J, Geißler S, Oheim R, Amling M, Howaldt HP, Kornak U. Howaldt A, et al. Among authors: kornak u. J Bone Miner Res. 2020 Jul;35(7):1322-1332. doi: 10.1002/jbmr.3995. Epub 2020 Mar 19. J Bone Miner Res. 2020. PMID: 32119750 Free article.
Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis.
Rössler U, Hennig AF, Stelzer N, Bose S, Kopp J, Søe K, Cyganek L, Zifarelli G, Ali S, von der Hagen M, Strässler ET, Hahn G, Pusch M, Stauber T, Izsvák Z, Gossen M, Stachelscheid H, Kornak U. Rössler U, et al. Among authors: kornak u. J Bone Miner Res. 2021 Aug;36(8):1621-1635. doi: 10.1002/jbmr.4322. Epub 2021 May 18. J Bone Miner Res. 2021. PMID: 33905594 Free article.
A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.
Rodríguez de Los Santos M, Rivalan M, David FS, Stumpf A, Pitsch J, Tsortouktzidis D, Velasquez LM, Voigt A, Schilling K, Mattei D, Long M, Vogt G, Knaus A, Fischer-Zirnsak B, Wittler L, Timmermann B, Robinson PN, Horn D, Mundlos S, Kornak U, Becker AJ, Schmitz D, Winter Y, Krawitz PM. Rodríguez de Los Santos M, et al. Among authors: kornak u. Proc Natl Acad Sci U S A. 2021 Jan 12;118(2):e2014481118. doi: 10.1073/pnas.2014481118. Proc Natl Acad Sci U S A. 2021. PMID: 33402532 Free PMC article.
Impaired gastric acidification negatively affects calcium homeostasis and bone mass.
Schinke T, Schilling AF, Baranowsky A, Seitz S, Marshall RP, Linn T, Blaeker M, Huebner AK, Schulz A, Simon R, Gebauer M, Priemel M, Kornak U, Perkovic S, Barvencik F, Beil FT, Del Fattore A, Frattini A, Streichert T, Pueschel K, Villa A, Debatin KM, Rueger JM, Teti A, Zustin J, Sauter G, Amling M. Schinke T, et al. Among authors: kornak u. Nat Med. 2009 Jun;15(6):674-81. doi: 10.1038/nm.1963. Nat Med. 2009. PMID: 19448635
156 results