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Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
Meyer E, Ricketts C, Morgan NV, Morris MR, Pasha S, Tee LJ, Rahman F, Bazin A, Bessières B, Déchelotte P, Yacoubi MT, Al-Adnani M, Marton T, Tannahill D, Trembath RC, Fallet-Bianco C, Cox P, Williams D, Maher ER. Meyer E, et al. Among authors: dechelotte p. Am J Hum Genet. 2010 Mar 12;86(3):471-8. doi: 10.1016/j.ajhg.2010.02.004. Epub 2010 Mar 4. Am J Hum Genet. 2010. PMID: 20206334 Free PMC article.
Fowler syndrome-a clinical, radiological, and pathological study of 14 cases.
Williams D, Patel C, Fallet-Bianco C, Kalyanasundaram K, Yacoubi M, Déchelotte P, Scott R, Bazin A, Bessières B, Marton T, Cox P. Williams D, et al. Among authors: dechelotte p. Am J Med Genet A. 2010 Jan;152A(1):153-60. doi: 10.1002/ajmg.a.33094. Am J Med Genet A. 2010. PMID: 20014121
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.
Vallette-Kasic S, Brue T, Pulichino AM, Gueydan M, Barlier A, David M, Nicolino M, Malpuech G, Déchelotte P, Deal C, Van Vliet G, De Vroede M, Riepe FG, Partsch CJ, Sippell WG, Berberoglu M, Atasay B, de Zegher F, Beckers D, Kyllo J, Donohoue P, Fassnacht M, Hahner S, Allolio B, Noordam C, Dunkel L, Hero M, Pigeon B, Weill J, Yigit S, Brauner R, Heinrich JJ, Cummings E, Riddell C, Enjalbert A, Drouin J. Vallette-Kasic S, et al. Among authors: dechelotte p. J Clin Endocrinol Metab. 2005 Mar;90(3):1323-31. doi: 10.1210/jc.2004-1300. Epub 2004 Dec 21. J Clin Endocrinol Metab. 2005. PMID: 15613420
Role of toll like receptors in irritable bowel syndrome: differential mucosal immune activation according to the disease subtype.
Belmonte L, Beutheu Youmba S, Bertiaux-Vandaële N, Antonietti M, Lecleire S, Zalar A, Gourcerol G, Leroi AM, Déchelotte P, Coëffier M, Ducrotté P. Belmonte L, et al. Among authors: dechelotte p. PLoS One. 2012;7(8):e42777. doi: 10.1371/journal.pone.0042777. Epub 2012 Aug 17. PLoS One. 2012. PMID: 23028414 Free PMC article.
Increased proteasome-mediated degradation of occludin in irritable bowel syndrome.
Coëffier M, Gloro R, Boukhettala N, Aziz M, Lecleire S, Vandaele N, Antonietti M, Savoye G, Bôle-Feysot C, Déchelotte P, Reimund JM, Ducrotté P. Coëffier M, et al. Among authors: dechelotte p. Am J Gastroenterol. 2010 May;105(5):1181-8. doi: 10.1038/ajg.2009.700. Epub 2009 Dec 8. Am J Gastroenterol. 2010. PMID: 19997094
The expression and the cellular distribution of the tight junction proteins are altered in irritable bowel syndrome patients with differences according to the disease subtype.
Bertiaux-Vandaële N, Youmba SB, Belmonte L, Lecleire S, Antonietti M, Gourcerol G, Leroi AM, Déchelotte P, Ménard JF, Ducrotté P, Coëffier M. Bertiaux-Vandaële N, et al. Among authors: dechelotte p. Am J Gastroenterol. 2011 Dec;106(12):2165-73. doi: 10.1038/ajg.2011.257. Epub 2011 Oct 18. Am J Gastroenterol. 2011. PMID: 22008894
Methotrexate modulates tight junctions through NF-κB, MEK, and JNK pathways.
Beutheu Youmba S, Belmonte L, Galas L, Boukhettala N, Bôle-Feysot C, Déchelotte P, Coëffier M. Beutheu Youmba S, et al. Among authors: dechelotte p. J Pediatr Gastroenterol Nutr. 2012 Apr;54(4):463-70. doi: 10.1097/MPG.0b013e318247240d. J Pediatr Gastroenterol Nutr. 2012. PMID: 22197938
467 results