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Publikationen

 

 

2019

Hoyer-Kuhn H, Rehberg M, Netzer C, Schoenau E, Semler O 2019 Individualized treatment with denosumab in children with osteogenesis imperfecta - follow up of a trial cohort. Orphanet J Rare Dis 14(1):219.

Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmüller J, Nürnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C 2019 Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. Am J Hum Genet 105(4):836-843.

Heumüller SE, Talantikite M, Napoli M, Armengaud J, Mörgelin M, Hartmann U, Sengle G, Paulsson M, Moali C, Wagener R 2019 C-terminal proteolysis of the collagen VI α3 chain by BMP-1 and proprotein convertase(s) releases endotrophin in fragments of different sizes. J Biol Chem 294(37):13769-13780.

Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Chen GS, Sizov K, Nalls M, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou C, Jimenez-Mallebrera C, Li Y1, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E; COL6A1 Intron 11 Study Group, Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F, Bönnemann CG 2019 A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. JCI Insight 4(6).

Holzer T, Probst K, Etich J, Auler M, Georgieva VS, Bluhm B, Frie C, Heilig J, Niehoff A, Nüchel J, Plomann M, Seeger JM, Kashkar H, Baris OR, Wiesner RJ, Brachvogel B 2019 Respiratory chain inactivation links cartilage-mediated growth retardation to mitochondrial diseases. J Cell Biol 218(6):1853-1870.

Jenei-Lanzl Z, Meurer A, Zaucke F 2019 Interleukin-1β signaling in osteoarthritis - chondrocytes in focus. Cell Signal 53:212-223.

Üstün Y, Reibetanz M, Brachvogel B, Nischt R, Eckes B, Zigrino P, Krieg T 2019 Dual role of laminin‑511 in regulating melanocyte migration and differentiation. Matrix Biol 80:59-71.

 

2018

Gebauer JM, Köhler A, Dietmar H, Gompert M, Neundorf I, Zaucke F, Koch M, Baumann U 2018 COMP and TSP-4 interact specifically with the novel GXKGHR motif only found in fibrillar collagens. Sci Rep 8(1):17187

Rehberg M, Winzenrieth R, Hoyer-Kuhn H, Duran I, Schoenau E, Semler O 2018 TBS as a Tool to Differentiate the Impact of Antiresorptives onCortical and Trabecular Bone in Children With OsteogenesisImperfecta. J Clin Densitom Sep 8. Epub ahead of print

Neugebauer J, Heilig J, Hosseinibarkooie S, Ross BC, Mendoza-Ferreira N, Nolte F, Peters M, Hölker I, Hupperich K, Tschanz T, Grysko V, Zaucke F, Niehoff A, Wirth B 2018 Plastin 3 influences bone homeostasis through regulation of osteoclast activity. Hum Mol Genet 27(24):4249-426.