| Actin dynamics regulation by TTC7A/PI4KIIIalpha limits DNA damage and cell death under confinement. | Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement.
Gajardo T, Bernard M, Lô M, Turck E, Leveau C, El-Daher MT, Deslys A, Panikulam P, Menche C, Kurowska M, Le Lay G, Barbier L, Moshous D, Neven B, Farin HF, Fischer A, Ménasché G, de Saint Basile G, Vargas P, Sepulveda FE. | 10/10/2023 |
| 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. | 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, Ouahed J, Field M, Snapper S, Raphael BP, Glover SC, Bishop PR, Bhesania N, Kamin D, Thiagarajah J, Goldsmith JD., Free PMC Article | 05/21/2022 |
| A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency. | A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency.
Mou W, Yang S, Guo R, Fu L, Zhang L, Guo W, Du J, He J, Ren Q, Hao C, Gui J, Huang J., Free PMC Article | 02/12/2022 |
| The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease. | The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease.
Dhingani N, Guo C, Pan J, Li Q, Warner N, Jardine S, Leung G, Kotlarz D, Gonzaga-Jauregui C, Klein C, Snapper SB, Navas-López VM, Muise AM., Free PMC Article | 04/3/2021 |
| TTC7A Variants Previously Described to Cause Enteropathy Are Observed on a Single Haplotype and Appear Non-pathogenic in Pediatric Inflammatory Bowel Disease Patients. | TTC7A Variants Previously Described to Cause Enteropathy Are Observed on a Single Haplotype and Appear Non-pathogenic in Pediatric Inflammatory Bowel Disease Patients.
Ashton JJ, Mossotto E, Beattie RM, Ennis S. | 02/13/2021 |
| TTC7A Deficiency Presenting With Combined Immunodeficiency. | A Novel TTC7A Deficiency Presenting With Combined Immunodeficiency and Chronic Gastrointestinal Problems.
Sharafian S, Alimadadi H, Shahrooei M, Gharagozlou M, Aghamohammadi A, Parvaneh N. | 09/7/2019 |
| TTC7A deficiency identified in a patient with overlapping features of tricho-hepato-enteric syndrome and multiple intestinal atresia with combined immune deficiency syndrome. | Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.
Neves JF, Afonso I, Borrego L, Martins C, Cordeiro AI, Neves C, Lacoste C, Badens C, Fabre A. | 09/1/2018 |
| Studies indicate that mutations in the tetratricopeptide repeat domain 7A (TTC7A) gene cause a severe form of very early onset inflammatory bowel disease | Stem cell transplantation for tetratricopeptide repeat domain 7A deficiency: long-term follow-up.
Kammermeier J, Lucchini G, Pai SY, Worth A, Rampling D, Amrolia P, Silva J, Chiesa R, Rao K, Noble-Jamieson G, Gasparetto M, Ellershaw D, Uhlig H, Sebire N, Elawad M, Notarangelo L, Shah N, Veys P. | 02/3/2018 |
| The results further demonstrate that the skin consequences of TTC7A deficiency in mice and humans are consistent with a role of TTC7A in the balance of keratinocyte maturation, proliferation and cell death processes. | Ichthyosis as the dermatological phenotype associated with TTC7A mutations.
Leclerc-Mercier S, Lemoine R, Bigorgne AE, Sepulveda F, Leveau C, Fischer A, Mahlaoui N, Hadj-Rabia S, de Saint Basile G. | 09/16/2017 |
| identified a perfectly segregating homozygous missense mutation in TTC7A in a consanguinous Turkish pedigree causing combined immunodeficiency with mild structural intestinal defects | Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.
Woutsas S, Aytekin C, Salzer E, Conde CD, Apaydin S, Pichler H, Memaran-Dadgar N, Hosnut FO, Förster-Waldl E, Matthes S, Huber WD, Lion T, Holter W, Bilic I, Boztug K., Free PMC Article | 05/2/2015 |
| Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency | Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.
Lemoine R, Pachlopnik-Schmid J, Farin HF, Bigorgne A, Debré M, Sepulveda F, Héritier S, Lemale J, Talbotec C, Rieux-Laucat F, Ruemmele F, Morali A, Cathebras P, Nitschke P, Bole-Feysot C, Blanche S, Brousse N, Picard C, Clevers H, Fischer A, de Saint Basile G. | 02/7/2015 |
| Identify loss of function mutations in TTC7A in 5 infants with very early onset inflammatory bowel disease. | Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, Elkadri A, Dhillon S, Murchie R, Fattouh R, Huynh H, Walker JL, Wales PW, Cutz E, Kakuta Y, Dudley J, Kammermeier J, Powrie F, Shah N, Walz C, Nathrath M, Kotlarz D, Puchaka J, Krieger JR, Racek T, Kirchner T, Walters TD, Brumell JH, Griffiths AM, Rezaei N, Rashtian P, Najafi M, Monajemzadeh M, Pelsue S, McGovern DP, Uhlig HH, Schadt E, Klein C, Snapper SB, Muise AM., Free PMC Article | 05/17/2014 |
| TTC7A deficiency results in increased Rho kinase activity, which disrupts polarity, growth, and differentiation of intestinal epithelial cells in multiple intestinal atresia. | TTC7A mutations disrupt intestinal epithelial apicobasal polarity.
Bigorgne AE, Farin HF, Lemoine R, Mahlaoui N, Lambert N, Gil M, Schulz A, Philippet P, Schlesser P, Abrahamsen TG, Oymar K, Davies EG, Ellingsen CL, Leteurtre E, Moreau-Massart B, Berrebi D, Bole-Feysot C, Nischke P, Brousse N, Fischer A, Clevers H, de Saint Basile G., Free PMC Article | 03/8/2014 |
| These data strongly suggest that TTC7A gene defects cause combined immunodeficiency with multiple intestinal atresias. | Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
Chen R, Giliani S, Lanzi G, Mias GI, Lonardi S, Dobbs K, Manis J, Im H, Gallagher JE, Phanstiel DH, Euskirchen G, Lacroute P, Bettinger K, Moratto D, Weinacht K, Montin D, Gallo E, Mangili G, Porta F, Notarangelo LD, Pedretti S, Al-Herz W, Alfahdli W, Comeau AM, Traister RS, Pai SY, Carella G, Facchetti F, Nadeau KC, Snyder M, Notarangelo LD., Free PMC Article | 11/16/2013 |
| Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. | Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, Decaluwe H, Gosselin I, Haddad E, Hodgkinson A, Idaghdour Y, Marchand V, Michaud JL, Rodrigue MA, Desjardins S, Dubois S, Le Deist F, Awadalla P, Raymond V, Maranda B., Free PMC Article | 10/19/2013 |
| Observational study of gene-disease association. (HuGE Navigator) | Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk.
Raychaudhuri S, Thomson BP, Remmers EF, Eyre S, Hinks A, Guiducci C, Catanese JJ, Xie G, Stahl EA, Chen R, Alfredsson L, Amos CI, Ardlie KG, BIRAC Consortium, Barton A, Bowes J, Burtt NP, Chang M, Coblyn J, Costenbader KH, Criswell LA, Crusius JB, Cui J, De Jager PL, Ding B, Emery P, Flynn E, Harrison P, Hocking LJ, Huizinga TW, Kastner DL, Ke X, Kurreeman FA, Lee AT, Liu X, Li Y, Martin P, Morgan AW, Padyukov L, Reid DM, Seielstad M, Seldin MF, Shadick NA, Steer S, Tak PP, Thomson W, van der Helm-van Mil AH, van der Horst-Bruinsma IE, Weinblatt ME, Wilson AG, Wolbink GJ, Wordsworth P, YEAR Consortium, Altshuler D, Karlson EW, Toes RE, de Vries N, Begovich AB, Siminovitch KA, Worthington J, Klareskog L, Gregersen PK, Daly MJ, Plenge RM., Free PMC Article | 12/2/2009 |