Associated Papers
Alternative start codon selection shapes mitochondrial function and rare human diseases.
Ly J et al.
Molecular Cell, 2025
41205602 (PubMed )
Supplement: NIHMS2117943-supplement-MMMC1.pdf
Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD).
Li Y et al.
Journal of Clinical Immunology, 2023
Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review.
Chen X et al.
Frontiers in Pediatrics, 2023
Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.
Zou H et al.
Nucleic Acids Research, 2022
35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1
Hypomorphic variant in TRNT1 induces a milder autoinflammatory disease with congenital cataracts and impaired sexual development.
Bravo García-Morato M et al.
Rheumatology (oxford, England), 2022
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.
Odom J et al.
American Journal of Medical Genetics. Part A, 2022
Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review.
Orlando F et al.
Clinical Rheumatology, 2021
Diseases Associated with Defects in tRNA CCA Addition.
Slade A et al.
International Journal of Molecular Sciences, 2020
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V et al.
Genes, 2020
32340307 (PubMed )
Supplement: genes-11-00460-s001.pdf
Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency.
Kumaki E et al.
International Journal of Hematology, 2019
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.
Giannelou A et al.
Annals of the Rheumatic Diseases, 2018
In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity.
Leibovitch M et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2018
Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood.
Frans G et al.
The Journal of Allergy and Clinical Immunology, 2017
Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.
Hull S et al.
Jama Ophthalmology, 2016
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