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■ Abbreviation / Long Form : TTC7A / tetratricopeptide repeat domain 7A

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Total Number of Papers: 21
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Abbreviation:   TTC7A  (>> Co-occurring Abbreviation)
Long Form:   tetratricopeptide repeat domain 7A
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No. Year Title Co-occurring Abbreviation
2022 A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency. CID, MIA, WES
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. ---
2020 Maximal Segmental Score Method for Localizing Recessive Disease Variants Based on Sequence Data. BMP-1, eMSS, MIA, MSS, OI, VDR
2020 The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease. UBR5, VEO-IBD
2019 Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency. CIPO, VOIBD
2019 Combined Immunodeficiency With Inflammatory Bowel Disease in a Patient With TTC7A Deficiency. IBD
2019 Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency. TTC7A-KO, XIAP
2018 Epithelial proliferation in inflammatory skin disease is regulated by tetratricopeptide repeat domain 7 (Ttc7) in fibroblasts and lymphocytes. IGF1, Reg3gamma, Ttc7
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