المؤلفون: Adamo, C. S., Beyens, A., Schiavinato, A., Keene, D. R., Tufa, S. F., Mörgelin, M., Brinckmann, J., Sasaki, T., Niehoff, A., Dreiner, M., Pottie, L., Muiño-Mosquera, L., Gulec, E. Y., Gezdirici, A., Braghetta, P., Bonaldo, P., Wagener, R., Paulsson, M., Bornaun, H., De Rycke, R., De Bruyne, M., Baeke, F., Devine, W. P., Gangaram, B., Tam, A., Balasubramanian, M., Ellard, S., Moore, S., Symoens, S., Shen, J., Cole, S., Schwarze, U., Holmes, K. W., Hayflick, S. J., Wiszniewski, W., Nampoothiri, S., Davis, E. C., Sakai, L. Y., Sengle, G., Callewaert, B.

مصطلحات موضوعية: Humans, Mice, Animals, Cutis Laxa/genetics, Elastin/metabolism, Extracellular Matrix Proteins/metabolism, Collagen/genetics, Bone Diseases, Metabolic, Efemp2, Emilin1, Lox, aortic aneurysm, arterial tortuosity, collagen, cutis laxa, elastic fiber, extracellular matrix, fracture

الوصف: EMILIN1 (elastin-microfibril-interface-located-protein-1) is a structural component of the elastic fiber network and localizes to the interface between the fibrillin microfibril scaffold and the elastin core. How EMILIN1 contributes to connective tissue integrity is not fully understood. Here, we report bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, resembling autosomal-recessive cutis laxa type 1B, due to EFEMP2 (FBLN4) deficiency. In both humans and mice, absence of EMILIN1 impairs EFEMP2 extracellular matrix deposition and LOX activity resulting in impaired elastogenesis, reduced collagen crosslinking, and aberrant growth factor signaling. Collagen fiber ultrastructure and histopathology in EMILIN1- or EFEMP2-deficient skin and aorta corroborate these findings and murine Emilin1(-/-) femora show abnormal trabecular bone formation and strength. Altogether, EMILIN1 connects elastic fiber network with collagen fibril formation, relevant for both bone and vascular tissue homeostasis. ; The article is available via Open Access. Click on the 'Additional link' above to access the full-text. ; Published version, accepted version (6 month embargo), submitted version

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297Test(22)00458-X; Am J Hum Genet. 2022 Dec 1;109(12):2230-2252. doi:10.1016/j.ajhg.2022.10.010. Epub 2022 Nov 8.; https://rde.dspace-express.com/handle/11287/622695Test; American journal of human genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.10.010Test
https://rde.dspace-express.com/handle/11287/622695Test

المؤلفون: Liphardt, A.-M., Godonou, E.-T., Mündermann, A., Dreiner, M., Zaucke, F., Wirth, W., Wisser, A., Maschek, S., Eckstein, F., Schett, G., Niehoff, A.

المصدر: Osteoarthritis and Cartilage ; volume 31, page S318-S319 ; ISSN 1063-4584

مصطلحات موضوعية: Orthopedics and Sports Medicine, Biomedical Engineering, Rheumatology

الإتاحة: https://doi.org/10.1016/j.joca.2023.01.343Test
https://api.elsevier.com/content/article/PII:S1063458423003618?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1063458423003618?httpAccept=text/plainTest

المؤلفون: Dreiner, M., Zaucke, F., Mündermann, A., Liphardt, A.-M., Niehoff, A.

المصدر: Osteoarthritis and Cartilage ; volume 30, page S105 ; ISSN 1063-4584

مصطلحات موضوعية: Orthopedics and Sports Medicine, Biomedical Engineering, Rheumatology

الإتاحة: https://doi.org/10.1016/j.joca.2022.02.133Test
https://api.elsevier.com/content/article/PII:S1063458422001674?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1063458422001674?httpAccept=text/plainTest

المؤلفون: Weyers, M., Mählich, D., Dreiner, M., Eckes, B., Niehoff, A.

المصدر: Osteoarthritis and Cartilage ; volume 30, page S169 ; ISSN 1063-4584

مصطلحات موضوعية: Orthopedics and Sports Medicine, Biomedical Engineering, Rheumatology

الإتاحة: https://doi.org/10.1016/j.joca.2022.02.221Test
https://api.elsevier.com/content/article/PII:S1063458422002552?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1063458422002552?httpAccept=text/plainTest

المؤلفون: Niehoff, A., Dreiner, M., Mündermann, A., Zaucke, F., Liphardt, A.-M.

المصدر: Osteoarthritis and Cartilage ; volume 27, page S169-S170 ; ISSN 1063-4584

مصطلحات موضوعية: Orthopedics and Sports Medicine, Biomedical Engineering, Rheumatology

الإتاحة: https://doi.org/10.1016/j.joca.2019.02.253Test
https://api.elsevier.com/content/article/PII:S106345841930295X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S106345841930295X?httpAccept=text/plainTest

المؤلفون: Kuehlmann Britta, M D, Jung E M, Clevert Dirk-André, Dreiner M D, U Helen, Prantl Lukas, M.D Britta Kuehlmann

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://grantmedicaljournals.org/pls/pdf/2017/january/Brit.pdfTest.

الوصف: Introduction: Detection of ruptured breast implants can be challenging, even with MRI. The aim of this study was to examine different breast implants ex vivo with contrast-enhanced ultrasound (CEUS) to determine whether this technique allows screening of implant failure. Objectives: 20 breast implants were examined. Ultrasound was performed using B-mode and CEUS with a multifrequency linear probe after injecting SonoVue to a box filled with NaCl. For interpretation, a scoring system was created (CEUS 1: intact implant, CEUS 5: obvious leakage, called macro-leakage). Results: CEUS was able to detect leakages of all implants, including micro-leakages, verified via microscopy (sensitivity: 100%). Polyurethane (PU) implants with CEUS 2 had a median time of implantation of 14.1 years, silicone implants with CEUS 5 were implanted 3.1 years on average. Silicone implants displayed no significant linear correlation between foreign body capsule formation (Baker score) and CEUS score (correlation coefficient r=0.08). Most of the PU implants with lower Baker grade 3 showed a lower CEUS grade and vice versa, leading to a high correlation (r=0.77). Conclusions: CEUS can be useful to detect implant rupture as an additional method for patients with equivocal sonographic findings. This is a new technique that can help diagnose surface qualities of breast implants.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1054.9879Test; http://grantmedicaljournals.org/pls/pdf/2017/january/Brit.pdfTest

الإتاحة: http://grantmedicaljournals.org/pls/pdf/2017/january/Brit.pdfTest

المؤلفون: Weyers, M, M?hlich, D, Lorenz, C, Dreiner, M, Eckes, B, Niehoff, A

المصدر: Osteologie; 20230101, Issue: Preprints

المؤلفون: M?hlich, D, Maus, I, Dreiner, M, Weyers, M, Li, T, Han, L, Wirth, B, Niehoff, A

المصدر: Osteologie; 20230101, Issue: Preprints