Associated Papers
Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.
Ghorbanpour A et al.
Molecular Medicine (cambridge, Mass.), 2026
TTC7A missense variants in intestinal disease can be classified by molecular and cellular phenotypes.
Shojaei Jeshvaghani Z et al.
Human Molecular Genetics, 2025
TTC7A Variants Results in Gastrointestinal Defects and Immunodeficiency Syndrome: Case Series and Literature Review.
Huang Z et al.
Clinical Reviews in Allergy & Immunology, 2025
Molecular basis for plasma membrane recruitment of PI4KA by EFR3.
Suresh S et al.
Science Advances, 2024
TTC7A: Steward of Intestinal Health.
Jardine S et al.
Cellular and Molecular Gastroenterology and Hepatology, 2019
Congenital intestinal atresias with multiple episodes of sepsis: A case report and review of literature.
Mandiá N et al.
Medicine, 2018
Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.
Neves JF et al.
European Journal of Medical Genetics, 2018
Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy.
Lawless D et al.
Journal of Clinical Immunology, 2017
Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.
Yang W et al.
Clinical Genetics, 2015
TTC7A mutations disrupt intestinal epithelial apicobasal polarity.
Bigorgne AE et al.
The Journal of Clinical Investigation, 2014
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