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Your search keyword '"Schreiber, G."' showing total 975 results
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975 results on '"Schreiber, G."'

3. Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxation

Author

Zhu, M., Metzen, F., Hopkinson, M., Betz, J., Heilig, J., Sodhi, J., Imhof, T., Niehoff, A., Birk, D.E., Izu, Y., Krüger, M., Pitsillides, A. A., Altmüller, J., van Osch, G.J.V.M., Straub, V., Schreiber, G., Paulsson, M., Koch, M., and Brachvogel, B.

Subjects
Technology Platforms
Abstract

Collagen XII, belonging to the fibril-associated collagens, is a homotrimeric secreted extracellular matrix (ECM) protein encoded by the COL12A1 gene. Mutations in the human COL12A1 gene cause an Ehlers-Danlos/myopathy overlap syndrome leading to skeletal abnormalities and muscle weakness. Here, we studied the role of collagen XII in joint pathophysiology by analyzing collagen XII deficient mice and human patients. We found that collagen XII is widely expressed across multiple connective tissue of the developing joint. Lack of collagen XII in mice destabilizes tendons and the femoral trochlear groove to induce patellar subluxation in the patellofemoral joint. These changes are associated with an ECM damage response in tendon and secondary quadriceps muscle degeneration. Moreover, patellar subluxation was also identified as a clinical feature of human patients with collagen XII deficiency. The results provide an explanation for joint hyperlaxity in mice and human patients with collagen XII deficiency.

Published
2023

6. Real-World Data on the Efficacy of Gene Replacement Therapy for Spinal Muscular Atrophy (SMA).

Author

Weiß, C., Becker, L.-L., Friese, J., Blaschek, A., Hahn, A., Illsinger, S., Schwartz, O., Bernert, G., von der Hagen, M., Husain, R. A., Goldhahn, K., Pechmann, A., Kirschner, J., Flotats-Bastardas, M., Schreiber, G., Schara, U., Plecko, B., Trollmann, R., Horber, V., and Wilichowski, E.

Subjects
SPINAL muscular atrophy, GENE therapy, GROSS motor ability, NEWBORN screening, GENE targeting
Abstract

This article presents long-term data on the efficacy of gene replacement therapy (GRT) for spinal muscular atrophy (SMA) using onasemnogene abeparvovec (OA). The study includes patients who were older, heavier, or more severely affected than those in previous clinical trials, as well as a large cohort of presymptomatic SMA patients identified through newborn screening. The results show that younger patients treated with OA had better motor function outcomes compared to those treated at a later age. The study provides valuable evidence for future treatment decisions, particularly for patients with limited trial data available. [Extracted from the article]

Published
2023
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8. Shaping laser accelerated ions for future applications – The LIGHT collaboration

Author

Busold, S., Almomani, A., Bagnoud, V., Barth, W., Bedacht, S., Blažević, A., Boine-Frankenheim, O., Brabetz, C., Burris-Mog, T., Cowan, T.E., Deppert, O., Droba, M., Eickhoff, H., Eisenbarth, U., Harres, K., Hoffmeister, G., Hofmann, I., Jaeckel, O., Jaeger, R., Joost, M., Kraft, S., Kroll, F., Kaluza, M., Kester, O., Lecz, Z., Merz, T., Nürnberg, F., Al-Omari, H., Orzhekhovskaya, A., Paulus, G., Polz, J., Ratzinger, U., Roth, M., Schaumann, G., Schmidt, P., Schramm, U., Schreiber, G., Schumacher, D., Stoehlker, T., Tauschwitz, A., Vinzenz, W., Wagner, F., Yaramyshev, S., and Zielbauer, B.

Published
2014
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19. First report of Eremothecium coryli on hazelnut in the Republic of Georgia.

Author

Luongo, L., Pirone, L., Garaguso, I., Schreiber, G., De Gregorio, T., and Vitale, S.

Subjects
HAZELNUTS, FUNGAL diseases of plants, HAZEL, LIFE sciences
Abstract

This article reports the first occurrence of Eremothecium coryli, a fungal plant disease, on hazelnuts in the Republic of Georgia. Hazelnuts are a significant crop in Georgia, with a large portion of the world's production coming from the Samegrelo region. The disease causes dry rot symptoms in the kernels, affecting the quality of the nuts and rendering them unsuitable for the food industry. This is the first known report of Eremothecium coryli as the causal agent of hazelnut dry rot in Georgia. [Extracted from the article]

Published
2024
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