Associated Papers
Alternative start codon selection shapes mitochondrial function and rare human diseases.
Ly J et al.
Molecular Cell, 2025
Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.
Pantea CL et al.
Scientific Reports, 2025
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
Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.
Maccora I 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
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
Neutrophilic dermatosis: a new skin manifestation and novel pathogenic variant in a rare autoinflammatory disease.
Bardou MLD et al.
The Australasian Journal of Dermatology, 2021
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
Diseases Associated with Defects in tRNA CCA Addition.
Slade A et al.
International Journal of Molecular Sciences, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.
Giannelou A et al.
Annals of the Rheumatic Diseases, 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