TTC7A mutations disrupt intestinal epithelial apicobasal polarity.

Bigorgne, Amélie E; Farin, Henner F; Lemoine, Roxane; Mahlaoui, Nizar; Lambert, Nathalie; Gil, Marine; Schulz, Ansgar; Philippet, Pierre; Schlesser, Patrick; Abrahamsen, Tore G; Oymar, Knut; Davies, E Graham; Ellingsen, Christian Lycke; Leteurtre, Emmanuelle; Moreau-Massart, Brigitte; Berrebi, Dominique; Bole-Feysot, Christine; Nischke, Patrick; Brousse, Nicole; Fischer, Alain; Clevers, Hans; de Saint Basile, Geneviève

Bigorgne, Amélie E; Farin, Henner F; Lemoine, Roxane; Mahlaoui, Nizar; Lambert, Nathalie; Gil, Marine; Schulz, Ansgar; Philippet, Pierre; Schlesser, Patrick; Abrahamsen, Tore G; Oymar, Knut; Davies, E Graham; Ellingsen, Christian Lycke; Leteurtre, Emmanuelle; Moreau-Massart, Brigitte; Berrebi, Dominique; Bole-Feysot, Christine; Nischke, Patrick; Brousse, Nicole; Fischer, Alain; Clevers, Hans; de Saint Basile, Geneviève.

J Clin Invest ; 124(1): 328-37, 2014 Jan.

Article in En | MEDLINE | ID: mdl-24292712

Subject(s)

Intestinal Atresia/genetics; Intestinal Mucosa/pathology; Proteins/genetics; Severe Combined Immunodeficiency/genetics; Base Sequence; Cell Polarity; Cells, Cultured; Child; Consanguinity; DNA Mutational Analysis; Epithelial Cells/physiology; Exome; Female; Genetic Association Studies; Genetic Linkage; Humans; Infant; Intestinal Atresia/immunology; Intestinal Atresia/mortality; Intestinal Atresia/pathology; Lymph Nodes/pathology; Lymphopenia/genetics; Lymphopenia/immunology; Lymphopenia/pathology; Male; Pedigree; Proteins/metabolism; Severe Combined Immunodeficiency/immunology; Severe Combined Immunodeficiency/mortality; Severe Combined Immunodeficiency/pathology; Thymus Gland/abnormalities; Thymus Gland/pathology; rho-Associated Kinases/metabolism

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteins / Severe Combined Immunodeficiency / Intestinal Atresia / Intestinal Mucosa Type of study: Prognostic_studies Limits: Child / Female / Humans / Infant / Male Language: En Journal: J Clin Invest Year: 2014 Type: Article

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