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Total Number of Papers: 21
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| Abbreviation |
: TTC7A |
| Long Form |
: tetratricopeptide repeat domain 7A |
|
| No. |
Year |
Title |
Co-occurring Abbreviation |
| 1 |
2022 |
A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency. |
CID, MIA, WES |
| 2 |
2022 |
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. |
--- |
| 3 |
2020 |
Maximal Segmental Score Method for Localizing Recessive Disease Variants Based on Sequence Data. |
BMP-1, eMSS, MIA, MSS, OI, VDR |
| 4 |
2020 |
The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease. |
UBR5, VEO-IBD |
| 5 |
2019 |
Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency. |
CIPO, VOIBD |
| 6 |
2019 |
Combined Immunodeficiency With Inflammatory Bowel Disease in a Patient With TTC7A Deficiency. |
IBD |
| 7 |
2019 |
Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency. |
TTC7A-KO, XIAP |
| 8 |
2018 |
Epithelial proliferation in inflammatory skin disease is regulated by tetratricopeptide repeat domain 7 (Ttc7) in fibroblasts and lymphocytes. |
IGF1, Reg3gamma, Ttc7 |
| 9 |
2018 |
High Rates of Positive Severe Combined Immunodeficiency Screening Among Newborns with Severe Intestinal Failure. |
MIA-CID, SCID, TREC |
| 10 |
2018 |
Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure. |
--- |
| 11 |
2018 |
TTC7A: Steward of Intestinal Health. |
--- |
| 12 |
2017 |
Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy. |
--- |
| 13 |
2017 |
Novel Mutations of the Tetratricopeptide Repeat Domain 7A Gene and Phenotype/Genotype Comparison. |
CID, HSCT, IBD, MIA, PIDs |
| 14 |
2015 |
The complex surgical management of the first case of severe combined immunodeficiency and multiple intestinal atresias surviving after the fourth year of life. |
MIA, SCID |
| 15 |
2014 |
Advances in basic and clinical immunology in 2013. |
CARD11, MALT1, PIDs |
| 16 |
2014 |
Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency. |
IBD |
| 17 |
2014 |
Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort. |
HMIA |
| 18 |
2014 |
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. |
VEO-IBD |
| 19 |
2014 |
Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency. |
--- |
| 20 |
2013 |
TTC7A mutations disrupt intestinal epithelial apicobasal polarity. |
CID, MIA |
| 21 |
2013 |
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. |
CID-MIA |
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