Associated Papers
Genotype-Phenotype Correlation in TTC7A -Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1.
Imhoff J et al.
American Journal of Medical Genetics. Part A, 2025
The Genetic Architecture of Congenital Diarrhea and Enteropathy.
Gaibee Z et al.
The New England Journal of Medicine, 2025
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
Overcoming problematic growth phenotypes in organoids from patients with monogenic GI disease.
Bugda Gwilt K et al.
Plos One, 2024
Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement.
Gajardo T et al.
The Journal of Allergy and Clinical Immunology, 2023
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy.
Dannheim K et al.
The American Journal of Surgical Pathology, 2022
Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation.
Diociaiuti A et al.
Genes, 2022
Refractory pruritus responds to dupilumab in a patient with TTC7A mutation.
Alipour Tehrany Y et al.
Jaad Case Reports, 2021
A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency.
Mou W et al.
Frontiers in Immunology, 2021
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
Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency.
Jardine S et al.
Gastroenterology, 2020
TTC7A: Steward of Intestinal Health.
Jardine S et al.
Cellular and Molecular Gastroenterology and Hepatology, 2019
Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.
El-Daher MT et al.
Frontiers in Immunology, 2019
Congenital intestinal atresias with multiple episodes of sepsis: A case report and review of literature.
Mandiá N et al.
Medicine, 2018
Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure.
El-Daher MT et al.
Cell Discovery, 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
Novel Mutations of the Tetratricopeptide Repeat Domain 7A Gene and Phenotype/Genotype Comparison.
Lien R et al.
Frontiers in Immunology, 2017
Ichthyosis as the dermatological phenotype associated with TTC7A mutations.
Leclerc-Mercier S et al.
The British Journal of Dermatology, 2016
Stem cell transplantation for tetratricopeptide repeat domain 7A deficiency: long-term follow-up.
Kammermeier J et al.
Blood, 2016
Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.
Yang W et al.
Clinical Genetics, 2015
Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.
Lemoine R et al.
The Journal of Allergy and Clinical Immunology, 2014
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
Avitzur Y et al.
Gastroenterology, 2014