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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
Mutations in WNT1 cause different forms of bone fragility.
Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, Fischer B, Yigit G, Janda CY, Becker J, Breer S, Altunoglu U, Grünhagen J, Krawitz P, Hecht J, Schinke T, Makareeva E, Lausch E, Cankaya T, Caparrós-Martín JA, Lapunzina P, Temtamy S, Aglan M, Zabel B, Eysel P, Koerber F, Leikin S, Garcia KC, Netzer C, Schönau E, Ruiz-Perez VL, Mundlos S, Amling M, Kornak U, Marini J, Wollnik B. Keupp K, et al. Among authors: kornak u. Am J Hum Genet. 2013 Apr 4;92(4):565-74. doi: 10.1016/j.ajhg.2013.02.010. Epub 2013 Mar 14. Am J Hum Genet. 2013. PMID: 23499309 Free PMC article.
Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.
Oheim R, Zimmerman K, Maulding ND, Stürznickel J, von Kroge S, Kavanagh D, Stabach PR, Kornak U, Tommasini SM, Horowitz MC, Amling M, Thompson D, Schinke T, Busse B, Carpenter TO, Braddock DT. Oheim R, et al. Among authors: kornak u. J Bone Miner Res. 2020 Mar;35(3):528-539. doi: 10.1002/jbmr.3911. Epub 2019 Dec 5. J Bone Miner Res. 2020. PMID: 31805212 Free PMC article.
Relevant genetic variants are common in women with pregnancy and lactation-associated osteoporosis (PLO) and predispose to more severe clinical manifestations.
Butscheidt S, Tsourdi E, Rolvien T, Delsmann A, Stürznickel J, Barvencik F, Jakob F, Hofbauer LC, Mundlos S, Kornak U, Seefried L, Oheim R. Butscheidt S, et al. Among authors: kornak u. Bone. 2021 Jun;147:115911. doi: 10.1016/j.bone.2021.115911. Epub 2021 Mar 12. Bone. 2021. PMID: 33716164 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.
156 results