Disease on EC 2.7.7.72 - CCA tRNA nucleotidyltransferase
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DISEASE 
TITLE OF PUBLICATION
LINK TO PUBMED
Agammaglobulinemia
A Novel Homozygous TRNT1 Mutation in a Child With an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic Anemia.
Agammaglobulinemia
Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay.
Anemia
A Novel Homozygous TRNT1 Mutation in a Child With an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic Anemia.
Anemia
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
Anemia
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
Anemia
Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts.
Anemia, Hemolytic
A Novel Homozygous TRNT1 Mutation in a Child With an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic Anemia.
Anemia, Sideroblastic
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.
Anemia, Sideroblastic
Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency.
Anemia, Sideroblastic
Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant).
Anemia, Sideroblastic
Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.
Anemia, Sideroblastic
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
Anemia, Sideroblastic
Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts.
Anemia, Sideroblastic
In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity.
Anemia, Sideroblastic
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Anemia, Sideroblastic
Neutrophilic dermatosis: a new skin manifestation and novel pathogenic variant in a rare autoinflammatory disease.
Anemia, Sideroblastic
Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay.
Anemia, Sideroblastic
SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis.
Anemia, Sideroblastic
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.
Brain Diseases
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Breast Neoplasms
Exploration of CCA-added RNAs revealed the expression of mitochondrial non-coding RNAs regulated by CCA-adding enzyme.
Cardiomyopathies
Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency.
Cardiomyopathies
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Cardiomyopathy, Hypertrophic
Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay.
Cataract
Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency.
Cataract
Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.
cca trna nucleotidyltransferase deficiency
Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency.
cca trna nucleotidyltransferase deficiency
TRNT1 deficiency: clinical, biochemical and molecular genetic features.
Common Variable Immunodeficiency
A Novel Homozygous TRNT1 Mutation in a Child With an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic Anemia.
Epilepsy
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Hearing Loss, Sensorineural
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Infections
Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay.
Iron Overload
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
Mitochondrial Diseases
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Neoplasm Metastasis
[Spinal cord metastasis of anaplastic oligodendroglioma of the brain without recurrence of primary tumor. Ccase report and literature review].
Neoplasms
Inhibition of transfer ribonucleic acid nucleotidyl transferase (EC 2.7.7.25) from Ehrlich tumor cells by proflavine sulfate and ethidium bromide.
Neoplasms
[Spinal cord metastasis of anaplastic oligodendroglioma of the brain without recurrence of primary tumor. Ccase report and literature review].
Obesity
Obesity-insulin targeted genes in the 3p26-25 region in human studies and LG/J and SM/J mice.
Obesity, Abdominal
Obesity-insulin targeted genes in the 3p26-25 region in human studies and LG/J and SM/J mice.
Oligodendroglioma
[Spinal cord metastasis of anaplastic oligodendroglioma of the brain without recurrence of primary tumor. Ccase report and literature review].
Retinal Dystrophies
Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.
Retinitis Pigmentosa
Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency.
Retinitis Pigmentosa
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
Retinitis Pigmentosa
In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity.
Retinitis Pigmentosa
TRNT1 deficiency: clinical, biochemical and molecular genetic features.
Seizures
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Thrombocytosis
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
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