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Page 1
Did you mean wagner raimundo (5 results)?
Furin-like cleavage at the C1-C2 linker region of the ⍺3 chain is not required for collagen VI assembly.
Pasanen-Zentz AL, Zhu M, Schmitz S, Eapen NG, Pzryklenk M, Metzen F, Hadrian K, Mörgelin M, Hansen U, Zevnik B, Tröder SE, Bock F, Moali C, Krüger M, Koch M, Paulsson M, Wagener R, Schiavinato A. Pasanen-Zentz AL, et al. Among authors: wagener r. Matrix Biol. 2026 Feb;143:1-13. doi: 10.1016/j.matbio.2025.11.003. Epub 2025 Nov 15. Matrix Biol. 2026. PMID: 41248837 Free article.
ANTXR2 Deficiency Promotes Cellular Senescence and Chondroid Differentiation in Hyaline Fibromatosis Syndrome Fibroblasts.
Schiavinato A, Pasanen-Zentz AL, Mörgelin M, Wehrle A, Karmacharya S, Rübsam M, Zigrino P, Wagener R, Paulsson M, Lausch E. Schiavinato A, et al. Among authors: wagener r. J Invest Dermatol. 2025 Nov;145(11):2911-2916.e7. doi: 10.1016/j.jid.2025.04.022. Epub 2025 May 12. J Invest Dermatol. 2025. PMID: 40368274 Free article. No abstract available.
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Natera-de Benito D, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: wagener r. Brain. 2025 Sep 3;148(9):3215-3227. doi: 10.1093/brain/awaf116. Brain. 2025. PMID: 40177858 Free PMC article.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: wagener r. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
The UCMD-Causing COL6A1 (c.930 + 189C > T) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains.
Freiburg CD, Solomon-Degefa H, Freiburg P, Mörgelin M, Bolduc V, Schmitz S, Ala P, Muntoni F, Behrmann E, Bönnemann CG, Schiavinato A, Paulsson M, Wagener R. Freiburg CD, et al. Among authors: wagener r. Hum Mutat. 2023 Sep 6;2023:6892763. doi: 10.1155/2023/6892763. eCollection 2023. Hum Mutat. 2023. PMID: 40225172 Free PMC article.
Structure, evolution and expression of zebrafish cartilage oligomeric matrix protein (COMP, TSP5). CRISPR-Cas mutants show a dominant phenotype in myosepta.
Forte-Gomez HF, Gioia R, Tonelli F, Kobbe B, Koch P, Bloch W, Paulsson M, Zaucke F, Forlino A, Wagener R. Forte-Gomez HF, et al. Among authors: wagener r. Front Endocrinol (Lausanne). 2022 Nov 14;13:1000662. doi: 10.3389/fendo.2022.1000662. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36452329 Free PMC article.
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Mörgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M, Pottie L, Muiño-Mosquera L, Gulec EY, Gezdirici A, Braghetta P, Bonaldo P, Wagener R, Paulsson M, Bornaun H, De Rycke R, De Bruyne M, Baeke F, Devine WP, Gangaram B, Tam A, Balasubramanian M, Ellard S, Moore S, Symoens S, Shen J, Cole S, Schwarze U, Holmes KW, Hayflick SJ, Wiszniewski W, Nampoothiri S, Davis EC, Sakai LY, Sengle G, Callewaert B. Adamo CS, et al. Among authors: wagener r. Am J Hum Genet. 2022 Dec 1;109(12):2230-2252. doi: 10.1016/j.ajhg.2022.10.010. Epub 2022 Nov 8. Am J Hum Genet. 2022. PMID: 36351433 Free PMC article.
76 results