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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 2
2004 2
2005 5
2006 3
2007 3
2008 2
2009 6
2010 7
2011 7
2012 2
2013 4
2014 7
2015 3
2016 5
2017 3
2018 5
2019 5
2020 4
2021 1
2022 5
2023 1
2024 2

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72 results

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Page 1
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.
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.
Anchoring Cords: A Distinct Suprastructure in the Developing Skin.
Esho T, Tufa SF, Kobbe B, Wohl AP, Sengle G, Paulsson M, Keene DR, Wagener R. Esho T, et al. Among authors: wagener r. J Invest Dermatol. 2022 Nov;142(11):2940-2948.e2. doi: 10.1016/j.jid.2022.04.025. Epub 2022 May 22. J Invest Dermatol. 2022. PMID: 35613627 Free article.
LTBP1 promotes fibrillin incorporation into the extracellular matrix.
Przyklenk M, Georgieva VS, Metzen F, Mostert S, Kobbe B, Callewaert B, Sengle G, Brachvogel B, Mecham RP, Paulsson M, Wagener R, Koch M, Schiavinato A. Przyklenk M, et al. Among authors: wagener r. Matrix Biol. 2022 Jun;110:60-75. doi: 10.1016/j.matbio.2022.04.004. Epub 2022 Apr 19. Matrix Biol. 2022. PMID: 35452817
Collagen type VI is the antigen recognized by the ER-TR7 antibody.
Schiavinato A, Przyklenk M, Kobbe B, Paulsson M, Wagener R. Schiavinato A, et al. Among authors: wagener r. Eur J Immunol. 2021 Sep;51(9):2345-2347. doi: 10.1002/eji.202149263. Epub 2021 Jul 11. Eur J Immunol. 2021. PMID: 34180542 Free article.
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
van Dijk FS, Semler O, Etich J, Köhler A, Jimenez-Estrada JA, Bravenboer N, Claeys L, Riesebos E, Gegic S, Piersma SR, Jimenez CR, Waisfisz Q, Flores CL, Nevado J, Harsevoort AJ, Janus GJM, Franken AAM, van der Sar AM, Meijers-Heijboer H, Heath KE, Lapunzina P, Nikkels PGJ, Santen GWE, Nüchel J, Plomann M, Wagener R, Rehberg M, Hoyer-Kuhn H, Eekhoff EMW, Pals G, Mörgelin M, Newstead S, Wilson BT, Ruiz-Perez VL, Maugeri A, Netzer C, Zaucke F, Micha D. van Dijk FS, et al. Among authors: wagener r. Am J Hum Genet. 2020 Nov 5;107(5):989-999. doi: 10.1016/j.ajhg.2020.09.009. Epub 2020 Oct 13. Am J Hum Genet. 2020. PMID: 33053334 Free PMC article.
72 results