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Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
Renard M, Holm T, Veith R, Callewaert BL, Adès LC, Baspinar O, Pickart A, Dasouki M, Hoyer J, Rauch A, Trapane P, Earing MG, Coucke PJ, Sakai LY, Dietz HC, De Paepe AM, Loeys BL. Renard M, et al. Among authors: sakai ly. Eur J Hum Genet. 2010 Aug;18(8):895-901. doi: 10.1038/ejhg.2010.45. Epub 2010 Apr 14. Eur J Hum Genet. 2010. PMID: 20389311 Free PMC article.
In vivo studies of mutant fibrillin-1 microfibrils.
Charbonneau NL, Carlson EJ, Tufa S, Sengle G, Manalo EC, Carlberg VM, Ramirez F, Keene DR, Sakai LY. Charbonneau NL, et al. Among authors: sakai ly. J Biol Chem. 2010 Aug 6;285(32):24943-55. doi: 10.1074/jbc.M110.130021. Epub 2010 Jun 7. J Biol Chem. 2010. PMID: 20529844 Free PMC article.
Sex, pregnancy and aortic disease in Marfan syndrome.
Renard M, Muiño-Mosquera L, Manalo EC, Tufa S, Carlson EJ, Keene DR, De Backer J, Sakai LY. Renard M, et al. Among authors: sakai ly. PLoS One. 2017 Jul 14;12(7):e0181166. doi: 10.1371/journal.pone.0181166. eCollection 2017. PLoS One. 2017. PMID: 28708846 Free PMC article.
Correction: Sex, pregnancy and aortic disease in Marfan syndrome.
Renard M, Muiño-Mosquera L, Manalo EC, Tufa S, Carlson EJ, Keene DR, Backer J, Sakai LY. Renard M, et al. Among authors: sakai ly. PLoS One. 2018 May 14;13(5):e0197631. doi: 10.1371/journal.pone.0197631. eCollection 2018. PLoS One. 2018. PMID: 29758081 Free PMC article.
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.
Elbitar S, Renard M, Arnaud P, Hanna N, Jacob MP, Guo DC, Tsutsui K, Gross MS, Kessler K, Tosolini L, Dattilo V, Dupont S, Jonquet J, Langeois M, Benarroch L, Aubart M, Ghaleb Y, Abou Khalil Y, Varret M, El Khoury P, Ho-Tin-Noé B, Alembik Y, Gaertner S, Isidor B, Gouya L, Milleron O, Sekiguchi K, Milewicz D, De Backer J, Le Goff C, Michel JB, Jondeau G, Sakai LY, Boileau C, Abifadel M. Elbitar S, et al. Among authors: sakai ly. Genet Med. 2021 Jan;23(1):111-122. doi: 10.1038/s41436-020-00947-4. Epub 2020 Aug 28. Genet Med. 2021. PMID: 32855533 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: sakai ly. 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.
190 results