Associated Papers
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
The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease.
Dhingani N et al.
Scientific Reports, 2020
Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.
Crowley E et al.
Gastroenterology, 2020
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
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
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
Avitzur Y et al.
Gastroenterology, 2014
Select a paper to view details