TTC7A, un acteur essentiel de l’homéostasie de l’intestin et du système immunitaire

Roxane Lemoine; Amélie Bigorgne; Henner Farin; Geneviève de Saint Basile

doi:10.1051/medsci/20143006006

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Volume 30 / Numéro 6-7 (Juin–Juillet 2014)

Med Sci (Paris), 30 6-7 (2014) 616-618

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Numéro		Med Sci (Paris) Volume 30, Numéro 6-7, Juin–Juillet 2014


Page(s)		616 - 618
Section		Nouvelles
DOI		https://doi.org/10.1051/medsci/20143006006
Publié en ligne		11 juillet 2014

Reed RA, Womble MA, Dush MK, et al. Morphogenesis of the primitive gut tube is generated by Rho/ROCK/myosin II-mediated endoderm rearrangements. Dev Dyn 2009 ; 238 : 3111–3125. [CrossRef] [PubMed] [Google Scholar]
Lambrecht W, Kluth D. Hereditary multiple atresias of the gastrointestinal tract: report of a case and review of the literature. J Ped Surg 1998 ; 33 : 794–797. [CrossRef] [Google Scholar]
Rothenberg ME, White FV, Chilmonczyk B, Chatila T. A syndrome involving immunodeficiency and multiple intestinal atresias. Immunodeficiency 1995 ; 5 : 171–178. [PubMed] [Google Scholar]
Bigorgne AE, Farin HF, Lemoine R, et al. TTC7A mutations disrupt intestinal epithelial apicobasal polarity. J Clin Invest 2014 ; 124 : 328–337. [CrossRef] [PubMed] [Google Scholar]
Samuels ME, Majewski J, Alirezaie N, et al. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet 2013 ; 50 : 324–329. [CrossRef] [PubMed] [Google Scholar]
Chen R, Giliani S, Lanzi G, et al. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. J Allergy Clin Immunol 2013 ; 132 : 656–664. [CrossRef] [PubMed] [Google Scholar]
Avitzur Y, Guo C, Mastropaolo LA, et al. Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. Gastroenterology 2014 ; 146 : 1028–1039. [CrossRef] [PubMed] [Google Scholar]
Sato T, Stange DE, Ferrante M, et al. Long-term expansion of epithelial organoids from human colon, adenoma, adenocarcinoma, and Barrett’s epithelium. Gastroenterology 2011 ; 141 : 1762–1772. [CrossRef] [PubMed] [Google Scholar]
Yu W, Shewan AM, Brakeman P, et al. Involvement of RhoA, ROCK I and myosin II in inverted orientation of epithelial polarity. EMBO reports 2008 ; 9 : 923–929. [CrossRef] [PubMed] [Google Scholar]
Fehon RG, McClatchey AI, Bretscher A. Organizing the cell cortex: the role of ERM proteins. Nat Rev Mol Cell Biol 2010 ; 11 : 276–287. [CrossRef] [PubMed] [Google Scholar]

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[1] Reed RA, Womble MA, Dush MK, et al. Morphogenesis of the primitive gut tube is generated by Rho/ROCK/myosin II-mediated endoderm rearrangements. Dev Dyn 2009 ; 238 : 3111–3125. [CrossRef] [PubMed] [Google Scholar]

[2] Lambrecht W, Kluth D. Hereditary multiple atresias of the gastrointestinal tract: report of a case and review of the literature. J Ped Surg 1998 ; 33 : 794–797. [CrossRef] [Google Scholar]

[3] Rothenberg ME, White FV, Chilmonczyk B, Chatila T. A syndrome involving immunodeficiency and multiple intestinal atresias. Immunodeficiency 1995 ; 5 : 171–178. [PubMed] [Google Scholar]

[4] Bigorgne AE, Farin HF, Lemoine R, et al. TTC7A mutations disrupt intestinal epithelial apicobasal polarity. J Clin Invest 2014 ; 124 : 328–337. [CrossRef] [PubMed] [Google Scholar]

[5] Samuels ME, Majewski J, Alirezaie N, et al. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet 2013 ; 50 : 324–329. [CrossRef] [PubMed] [Google Scholar]

[6] Chen R, Giliani S, Lanzi G, et al. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. J Allergy Clin Immunol 2013 ; 132 : 656–664. [CrossRef] [PubMed] [Google Scholar]

[7] Avitzur Y, Guo C, Mastropaolo LA, et al. Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. Gastroenterology 2014 ; 146 : 1028–1039. [CrossRef] [PubMed] [Google Scholar]

[8] Sato T, Stange DE, Ferrante M, et al. Long-term expansion of epithelial organoids from human colon, adenoma, adenocarcinoma, and Barrett’s epithelium. Gastroenterology 2011 ; 141 : 1762–1772. [CrossRef] [PubMed] [Google Scholar]

[9] Yu W, Shewan AM, Brakeman P, et al. Involvement of RhoA, ROCK I and myosin II in inverted orientation of epithelial polarity. EMBO reports 2008 ; 9 : 923–929. [CrossRef] [PubMed] [Google Scholar]

[10] Fehon RG, McClatchey AI, Bretscher A. Organizing the cell cortex: the role of ERM proteins. Nat Rev Mol Cell Biol 2010 ; 11 : 276–287. [CrossRef] [PubMed] [Google Scholar]