Syx D - Search Results

1

Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development.

Guillemyn B, De Saffel H, Bek JW, Tapaneeyaphan P, De Clercq A, Jarayseh T, Debaenst S, Willaert A, De Rycke R, Byers PH, Rosseel T, Coucke P, Blaumeiser B, Syx D, Malfait F, Symoens S. Guillemyn B, et al. Among authors: syx d. J Bone Miner Res. 2023 Nov;38(11):1718-1730. doi: 10.1002/jbmr.4914. Epub 2023 Sep 30. J Bone Miner Res. 2023. PMID: 37718532

2

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. 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.

3

Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome.

Delbaere S, Van Damme T, Syx D, Symoens S, Coucke P, Willaert A, Malfait F. Delbaere S, et al. Among authors: syx d. Matrix Biol. 2020 Jul;89:59-75. doi: 10.1016/j.matbio.2019.12.002. Epub 2019 Dec 17. Matrix Biol. 2020. PMID: 31862401

4

b3galt6 Knock-Out Zebrafish Recapitulate β3GalT6-Deficiency Disorders in Human and Reveal a Trisaccharide Proteoglycan Linkage Region.

Delbaere S, De Clercq A, Mizumoto S, Noborn F, Bek JW, Alluyn L, Gistelinck C, Syx D, Salmon PL, Coucke PJ, Larson G, Yamada S, Willaert A, Malfait F. Delbaere S, et al. Among authors: syx d. Front Cell Dev Biol. 2020 Dec 10;8:597857. doi: 10.3389/fcell.2020.597857. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 33363150 Free PMC article.

5

Loss of TANGO1 Leads to Absence of Bone Mineralization.

Guillemyn B, Nampoothiri S, Syx D, Malfait F, Symoens S. Guillemyn B, et al. Among authors: syx d. JBMR Plus. 2021 Jan 13;5(3):e10451. doi: 10.1002/jbm4.10451. eCollection 2021 Mar. JBMR Plus. 2021. PMID: 33778321 Free PMC article.

6

A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract.

Jarayseh T, Guillemyn B, De Saffel H, Bek JW, Syx D, Symoens S, Gansemans Y, Van Nieuwerburgh F, Jagadeesh S, Raja J, Malfait F, Coucke PJ, De Clercq A, Willaert A. Jarayseh T, et al. Among authors: syx d. Hum Genet. 2023 Mar;142(3):457-476. doi: 10.1007/s00439-022-02518-w. Epub 2023 Jan 25. Hum Genet. 2023. PMID: 36697720

7

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.

Guillemyn B, Kayserili H, Demuynck L, Sips P, De Paepe A, Syx D, Coucke PJ, Malfait F, Symoens S. Guillemyn B, et al. Among authors: syx d. Hum Mol Genet. 2019 Jun 1;28(11):1801-1809. doi: 10.1093/hmg/ddz017. Hum Mol Genet. 2019. PMID: 30657919

8

Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen.

Dhooge T, Syx D, Hermanns-Lê T, Hausser I, Mortier G, Zonana J, Symoens S, Byers PH, Malfait F. Dhooge T, et al. Among authors: syx d. Genet Med. 2021 Dec;23(12):2378-2385. doi: 10.1038/s41436-021-01274-y. Epub 2021 Jul 16. Genet Med. 2021. PMID: 34272483 Free article.

9

Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.

Syx D, De Wandele I, Symoens S, De Rycke R, Hougrand O, Voermans N, De Paepe A, Malfait F. Syx D, et al. Hum Mol Genet. 2019 Jun 1;28(11):1853-1864. doi: 10.1093/hmg/ddz024. Hum Mol Genet. 2019. PMID: 30668708

10

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.

Symoens S, Barnes AM, Gistelinck C, Malfait F, Guillemyn B, Steyaert W, Syx D, D'hondt S, Biervliet M, De Backer J, Witten EP, Leikin S, Makareeva E, Gillessen-Kaesbach G, Huysseune A, Vleminckx K, Willaert A, De Paepe A, Marini JC, Coucke PJ. Symoens S, et al. Among authors: syx d, d hondt s. Am J Hum Genet. 2015 Oct 1;97(4):521-34. doi: 10.1016/j.ajhg.2015.08.009. Epub 2015 Sep 10. Am J Hum Genet. 2015. PMID: 26365339 Free PMC article.

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