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Page 1
Glial β-oxidation regulates Drosophila energy metabolism.
Schulz JG, Laranjeira A, Van Huffel L, Gärtner A, Vilain S, Bastianen J, Van Veldhoven PP, Dotti CG. Schulz JG, et al. Among authors: bastianen j. Sci Rep. 2015 Jan 15;5:7805. doi: 10.1038/srep07805. Sci Rep. 2015. PMID: 25588812 Free PMC article.
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Van Gucht I, Meester JAN, Bento JR, Bastiaansen M, Bastianen J, Luyckx I, Van Den Heuvel L, Neutel CHG, Guns PJ, Vermont M, Fransen E, Perik MHAM, Velchev JD, Alaerts M, Schepers D, Peeters S, Pintelon I, Almesned A, Ferla MP, Taylor JC, Dallosso AR, Williams M, Evans J; Genomics England Research Consortium; Rosenfeld JA, Sluysmans T, Rodrigues D, Chikermane A, Bharmappanavara G, Vijayakumar K, Mottaghi Moghaddam Shahri H, Hashemi N, Torbati PN, Toosi MB, Al-Hassnan ZN, Vogt J, Revencu N, Maystadt I, Miller EM, Weaver KN, Begtrup A, Houlden H, Murphy D, Maroofian R, Pagnamenta AT, Van Laer L, Loeys BL, Verstraeten A. Van Gucht I, et al. Among authors: bastianen j. Am J Hum Genet. 2021 Jun 3;108(6):1115-1125. doi: 10.1016/j.ajhg.2021.04.019. Epub 2021 May 18. Am J Hum Genet. 2021. PMID: 34010605 Free PMC article.
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
Meester JAN, Hebert A, Bastiaansen M, Rabaut L, Bastianen J, Boeckx N, Ashcroft K, Atwal PS, Benichou A, Billon C, Blankensteijn JD, Brennan P, Bucks SA, Campbell IM, Conrad S, Curtis SL, Dasouki M, Dent CL, Eden J, Goel H, Hartill V, Houweling AC, Isidor B, Jackson N, Koopman P, Korpioja A, Kraatari-Tiri M, Kuulavainen L, Lee K, Low KJ, Lu AC, McManus ML, Oakley SP, Oliver J, Organ NM, Overwater E, Revencu N, Trainer AH, Trivedi B, Turner CLS, Whittington R, Zankl A, Zentner D, Van Laer L, Verstraeten A, Loeys BL. Meester JAN, et al. Among authors: bastianen j. NPJ Genom Med. 2024 Mar 26;9(1):22. doi: 10.1038/s41525-024-00413-z. NPJ Genom Med. 2024. PMID: 38531898 Free PMC article.
Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.
Verstraeten A, Perik MHAM, Baranowska AA, Meester JAN, Van Den Heuvel L, Bastianen J, Kempers M, Krapels IPC, Maas A, Rideout A, Vandersteen A, Sobey G, Johnson D, Fransen E, Ghali N, Webb T, Al-Hussaini A, de Leeuw P, Delmotte P, Lopez-Sublet M, Pappaccogli M, Sprynger M, Toubiana L; European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI); Van Laer L, Van Dijk FS, Vikkula M, Samani NJ, Persu A, Adlam D, Loeys B; Collaborators of the European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI). Verstraeten A, et al. Among authors: bastianen j. Circulation. 2020 Sep 8;142(10):1021-1024. doi: 10.1161/CIRCULATIONAHA.120.045946. Epub 2020 Sep 8. Circulation. 2020. PMID: 32897753 Free article. No abstract available.