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Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A, Voraberger B, Rauch F, Mairhofer M, Schmidt K, Guillemyn B, Mitulović G, Reiterer V, Haun M, Mayr MM, Mayr JA, Kimeswenger S, Drews O, Saraff V, Shaw N, Fratzl-Zelman N, Symoens S, Farhan H, Högler W. El-Gazzar A, et al. Among authors: guillemyn b. EMBO Mol Med. 2023 Apr 11;15(4):e16834. doi: 10.15252/emmm.202216834. Epub 2023 Mar 14. EMBO Mol Med. 2023. PMID: 36916446 Free PMC article.
Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.
Syx D, Guillemyn B, Symoens S, Sousa AB, Medeira A, Whiteford M, Hermanns-Lê T, Coucke PJ, De Paepe A, Malfait F. Syx D, et al. Among authors: guillemyn b. J Bone Miner Res. 2015 Aug;30(8):1445-56. doi: 10.1002/jbmr.2473. Epub 2015 May 21. J Bone Miner Res. 2015. PMID: 25656619 Free article.
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.
Syx D, Ishikawa Y, Gebauer J, Boudko SP, Guillemyn B, Van Damme T, D'hondt S, Symoens S, Nampoothiri S, Gould DB, Baumann U, Bächinger HP, Malfait F. Syx D, et al. Among authors: guillemyn b. PLoS Genet. 2021 Feb 1;17(2):e1009339. doi: 10.1371/journal.pgen.1009339. eCollection 2021 Feb. PLoS Genet. 2021. PMID: 33524049 Free PMC article.
Loss of TANGO1 Leads to Absence of Bone Mineralization.
Guillemyn B, Nampoothiri S, Syx D, Malfait F, Symoens S. Guillemyn B, et al. JBMR Plus. 2021 Jan 13;5(3):e10451. doi: 10.1002/jbm4.10451. eCollection 2021 Mar. JBMR Plus. 2021. PMID: 33778321 Free PMC article.
Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model.
D'hondt S, Guillemyn B, Syx D, Symoens S, De Rycke R, Vanhoutte L, Toussaint W, Lambrecht BN, De Paepe A, Keene DR, Ishikawa Y, Bächinger HP, Janssens S, Bertrand MJM, Malfait F. D'hondt S, et al. Among authors: guillemyn b. Matrix Biol. 2018 Sep;70:72-83. doi: 10.1016/j.matbio.2018.03.008. Epub 2018 Mar 15. Matrix Biol. 2018. PMID: 29551664
Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies.
Gistelinck C, Kwon RY, Malfait F, Symoens S, Harris MP, Henke K, Hawkins MB, Fisher S, Sips P, Guillemyn B, Bek JW, Vermassen P, De Saffel H, Witten PE, Weis M, De Paepe A, Eyre DR, Willaert A, Coucke PJ. Gistelinck C, et al. Among authors: guillemyn b. Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8037-E8046. doi: 10.1073/pnas.1722200115. Epub 2018 Aug 6. Proc Natl Acad Sci U S A. 2018. PMID: 30082390 Free PMC article.
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