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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
Dubail J, Huber C, Chantepie S, Sonntag S, Tüysüz B, Mihci E, Gordon CT, Steichen-Gersdorf E, Amiel J, Nur B, Stolte-Dijkstra I, van Eerde AM, van Gassen KL, Breugem CC, Stegmann A, Lekszas C, Maroofian R, Karimiani EG, Bruneel A, Seta N, Munnich A, Papy-Garcia D, De La Dure-Molla M, Cormier-Daire V. Dubail J, et al. Nat Commun. 2018 Aug 6;9(1):3087. doi: 10.1038/s41467-018-05191-8. Nat Commun. 2018. PMID: 30082715 Free PMC article.
Serum bikunin is a biomarker of linkeropathies.
Bruneel A, Dubail J, Roseau C, Prada P, Haouari W, Huber C, Dupré T, Poüs C, Cormier-Daire V, Seta N. Bruneel A, et al. Among authors: dubail j. Clin Chim Acta. 2018 Oct;485:178-180. doi: 10.1016/j.cca.2018.06.044. Epub 2018 Jun 30. Clin Chim Acta. 2018. PMID: 29969625 No abstract available.
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
Haouari W, Dubail J, Lounis-Ouaras S, Prada P, Bennani R, Roseau C, Huber C, Afenjar A, Colin E, Vuillaumier-Barrot S, Seta N, Foulquier F, Poüs C, Cormier-Daire V, Bruneel A. Haouari W, et al. Among authors: dubail j. J Inherit Metab Dis. 2020 Nov;43(6):1349-1359. doi: 10.1002/jimd.12291. Epub 2020 Aug 7. J Inherit Metab Dis. 2020. PMID: 32700771
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
Guasto A, Dubail J, Aguilera-Albesa S, Paganini C, Vanhulle C, Haouari W, Gorría-Redondo N, Aznal-Sainz E, Boddaert N, Planas-Serra L, Schlüter A, Vélez-Santamaría V, Verdura E, Bruneel A, Rossi A, Huber C, Pujol A, Cormier-Daire V. Guasto A, et al. Among authors: dubail j. Brain. 2022 Oct 21;145(10):3711-3722. doi: 10.1093/brain/awac110. Brain. 2022. PMID: 35325049
ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.
Holdener BC, Percival CJ, Grady RC, Cameron DC, Berardinelli SJ, Zhang A, Neupane S, Takeuchi M, Jimenez-Vega JC, Uddin SMZ, Komatsu DE, Honkanen R, Dubail J, Apte SS, Sato T, Narimatsu H, McClain SA, Haltiwanger RS. Holdener BC, et al. Among authors: dubail j. Hum Mol Genet. 2019 Dec 15;28(24):4053-4066. doi: 10.1093/hmg/ddz225. Hum Mol Genet. 2019. PMID: 31600785 Free PMC article.
38 results