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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Besnard T, Sloboda N, Goldenberg A, Küry S, Cogné B, Breheret F, Trochu E, Conrad S, Vincent M, Deb W, Balguerie X, Barbarot S, Baujat G, Ben-Omran T, Bursztejn AC, Carmignac V, Datta AN, Delignières A, Faivre L, Gardie B, Guéant JL, Kuentz P, Lenglet M, Nassogne MC, Ramaekers V, Schnur RE, Si Y, Torti E, Thevenon J, Vabres P, Van Maldergem L, Wand D, Wiedemann A, Cariou B, Redon R, Lamazière A, Bézieau S, Feillet F, Isidor B. Besnard T, et al. Among authors: cariou b. Genet Med. 2019 Sep;21(9):2025-2035. doi: 10.1038/s41436-019-0445-x. Epub 2019 Feb 6. Genet Med. 2019. PMID: 30723320 Free article.
Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia.
Rimbert A, Pichelin M, Lecointe S, Marrec M, Le Scouarnec S, Barrak E, Croyal M, Krempf M, Le Marec H, Redon R, Schott JJ, Magré J, Cariou B. Rimbert A, et al. Among authors: cariou b. Atherosclerosis. 2016 Jul;250:52-6. doi: 10.1016/j.atherosclerosis.2016.04.010. Epub 2016 Apr 11. Atherosclerosis. 2016. PMID: 27179706 Free article.
FACS-assisted CRISPR-Cas9 genome editing of human induced pluripotent stem cells.
Caillaud A, Lévêque A, Thédrez A, Girardeau A, Canac R, Bray L, Baudic M, Barc J, Gaborit N, Lamirault G, Gardie B, Idriss S, Rimbert A, Le May C, Cariou B, Si-Tayeb K. Caillaud A, et al. Among authors: cariou b. STAR Protoc. 2022 Dec 16;3(4):101680. doi: 10.1016/j.xpro.2022.101680. Epub 2022 Sep 16. STAR Protoc. 2022. PMID: 36115027 Free PMC article.
Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.
Rimbert A, Vanhoye X, Coulibaly D, Marrec M, Pichelin M, Charrière S, Peretti N, Valéro R, Wargny M, Carrié A, Lindenbaum P, Deleuze JF, Genin E, Redon R, Rollat-Farnier PA, Goxe D, Degraef G, Marmontel O, Divry E, Bigot-Corbel E, Moulin P, Cariou B, Di Filippo M. Rimbert A, et al. Among authors: cariou b. Arterioscler Thromb Vasc Biol. 2021 Jan;41(1):e63-e71. doi: 10.1161/ATVBAHA.120.315491. Epub 2020 Nov 19. Arterioscler Thromb Vasc Biol. 2021. PMID: 33207932 Free article.
Generation of human induced pluripotent stem cell lines from four unrelated healthy control donors carrying European genetic background.
Girardeau A, Atticus D, Canac R, Cimarosti B, Caillaud A, Chariau C, Simonet F, Cariou B, Charpentier F, Gourraud JB, Probst V, Belbachir N, Jesel L, Lemarchand P, Barc J, Redon R, Gaborit N, Lamirault G. Girardeau A, et al. Among authors: cariou b. Stem Cell Res. 2022 Mar;59:102647. doi: 10.1016/j.scr.2021.102647. Epub 2021 Dec 28. Stem Cell Res. 2022. PMID: 34999420 Free article.
Transintestinal cholesterol excretion in health and disease.
Garçon D, Berger JM, Cariou B, Le May C. Garçon D, et al. Among authors: cariou b. Curr Atheroscler Rep. 2022 Mar;24(3):153-160. doi: 10.1007/s11883-022-00995-y. Epub 2022 Feb 9. Curr Atheroscler Rep. 2022. PMID: 35138569 Review.
[Cholesterol metabolism and beta-cell function].
Langhi C, Cariou B. Langhi C, et al. Among authors: cariou b. Med Sci (Paris). 2010 Apr;26(4):385-90. doi: 10.1051/medsci/2010264385. Med Sci (Paris). 2010. PMID: 20412743 Free article. Review. French.
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng HM, Capper CP, Burgos-Tirado N, Prasad R, Hughes CR, Maudhoo A, Crowne E, Cheetham TD, Brain CE, Suntharalingham JP, Striglioni N, Yuksel B, Gurbuz F, Gupta S, Lindsay R, Couch R, Spoudeas HA, Guran T, Johnson S, Fowler DJ, Conwell LS, McInerney-Leo AM, Drui D, Cariou B, Lopez-Siguero JP, Harris M, Duncan EL, Hindmarsh PC, Auchus RJ, Donaldson MD, Achermann JC, Metherell LA. Maharaj A, et al. Among authors: cariou b. J Endocr Soc. 2018 Oct 30;3(1):201-221. doi: 10.1210/js.2018-00130. eCollection 2019 Jan 1. J Endocr Soc. 2018. PMID: 30620006 Free PMC article.
344 results