Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency-Reference-Cited by-同舟云学术

Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency

Published:2019-11-07 Issue: Volume:10 Page:
ISSN:1664-3224
Container-title:Frontiers in Immunology
language:
Short-container-title:Front. Immunol.

Author:

El-Daher Marie-Thérèse,Lemale Julie,Bruneau Julie,Leveau Claire,Guerin Frédéric,Lambert Nathalie,Diana Jean-Sébastien,Neven Bénédicte,Sepulveda Fernando E.,Coulomb-L'Hermine Aurore,Molina Thierry,Picard Capucine,Fischer Alain,de Saint Basile Geneviève

Funder

Fondation pour la Recherche Médicale

Agence Nationale de la Recherche

Publisher

Frontiers Media SA

Subject

Immunology,Immunology and Allergy

Reference11 articles.

1. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias;Chen;J Allergy Clin Immunol.,2013

2. TTC7A mutations disrupt intestinal epithelial apicobasal polarity;Bigorgne;J Clin Invest.,2014

3. Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease;Avitzur;Gastroenterology.,2014

4. Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency;Lemoine;J Allergy Clin Immunol.,2014

5. Architecture of the human PI4KIIIalpha lipid kinase complex;Lees;Proc Natl Acad Sci USA.,2017

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Systematic review of phenotypes and genotypes of patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) (related to TTC7A);Intractable & Rare Diseases Research;2024-05-31

2. Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement;Journal of Allergy and Clinical Immunology;2023-10

3. Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation;Genes;2022-05-04

4. Paediatric intestinal pseudo-obstruction: a scoping review;European Journal of Pediatrics;2022-04-28

5. Actin dynamics regulation by TTC7A/PI4KIIIα axis limits DNA damage and cell death during leukocyte migration;2021-10-14