Associated Papers
Alternative start codon selection shapes mitochondrial function and rare human diseases.
Ly J et al.
Molecular Cell, 2025
Interface dermatitis in a patient with TRNT1 deficiency: A case report.
Gauger AJ et al.
Jaad Case Reports, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD).
Li Y et al.
Journal of Clinical Immunology, 2023
Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models.
Magistrati M et al.
International Journal of Molecular Sciences, 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
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
Two cases of sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome in Chinese Han children caused by novel compound heterozygous variants of the TRNT1 gene.
Wang J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Diseases Associated with Defects in tRNA CCA Addition.
Slade A et al.
International Journal of Molecular Sciences, 2020
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
Fouquet C et al.
British Journal of Haematology, 2019
Congenital sideroblastic anemia associated with B cell immunodeficiency, periodic fevers, and developmental delay: A case report and review of mucocutaneous features.
Jfri A et al.
Sage Open Medical Case Reports, 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
SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis.
Barton C et al.
Journal of Clinical Pathology, 2018
TRNT1 deficiency: clinical, biochemical and molecular genetic features.
Wedatilake Y et al.
Orphanet Journal of Rare Diseases, 2016
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
DeLuca AP et al.
Human Molecular Genetics, 2016
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Chakraborty PK et al.
Blood, 2014