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Relevant bibliographies by topics / TRNT1 gene mutation

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Journal articles

Academic literature on the topic 'TRNT1 gene mutation'

Author: Grafiati

Published: 5 June 2025

Last updated: 16 July 2025

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Journal articles on the topic "TRNT1 gene mutation"

1

Catania, Maria Antonietta, Antonino Trizzin, Clara Mosa, et al. "L’ipogammaglobulinemia che aiuta a spiegare una anemia microcitica di difficile interpretazione." Medico e Bambino Pagine elettroniche 25, no. 7 (2022): 152. http://dx.doi.org/10.53126/mebxxvs152.

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The case of a 3-month-year old child presenting with microcytic anaemia is described. He subsequently developed viral encephalitis. The presence of hypogammaglobulinemia and of a mutation in TRNT1 gene at the genome analysis (NSC) led to the diagnosis of SFID syndrome (sideroblastic anaemia, periodic fever, hypogammaglobulinemia, mental disability).

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2

Chakrabarty, Sanjiban, Periyasamy Govindaraj, Bindu Parayil Sankaran, et al. "Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome." Journal of Neurology 268, no. 6 (2021): 2192–207. http://dx.doi.org/10.1007/s00415-020-10390-9.

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Abstract Background Mitochondrial disorders are clinically complex and have highly variable phenotypes among all inherited disorders. Mutations in mitochon drial DNA (mtDNA) and nuclear genome or both have been reported in mitochondrial diseases suggesting common pathophysiological pathways. Considering the clinical heterogeneity of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) phenotype including focal neurological deficits, it is important to look beyond mitochondrial gene mutation. Methods The clinical, histopathological, biochemical analysis for OXPHOS enzy

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3

Novoa Jáuregui, Sandra, Tzu Chen, Sara Torres-Esquius, et al. "Early-Onset Myelodysplastic Syndromes (MDS) with Ring Sideroblasts (RS) without SF3B1 Mutations in Adults: Enrichment with Germline Variants in Genes Responsible for Congenital Sideroblastic Anemias." Blood 142, Supplement 1 (2023): 4610. http://dx.doi.org/10.1182/blood-2023-185836.

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Introduction: Acquired mutations in SF3B1 gene in myeloid neoplasms are classically associated with the presence of RS in Pearl Stain, ineffective erythropoiesis, and favorable prognosis. Nevertheless, in up to 20-25% of adults diagnosed with MDS with RS (WHO 2017), mutations in SF3B1 are not found, and molecular grounds for the presence of RS remain to be ascertained. The objective of our study was to investigate whether the presence of RS could be associated with germline variants in genes responsible for congenital sideroblastic anemia (CSA). Methods: Patients diagnosed with de novo MDS bet

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4

Aiso, Toshiko, and Reiko Ohki. "An rne-1 pnp-7 Double Mutation Suppresses the Temperature-Sensitive Defect of lacZ Gene Expression in a divE Mutant." Journal of Bacteriology 180, no. 6 (1998): 1389–95. http://dx.doi.org/10.1128/jb.180.6.1389-1395.1998.

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ABSTRACT A divE mutant, which has a temperature-sensitive mutation in the tRNA1 Ser gene, exhibits differential loss of the synthesis of certain proteins, such as β-galactosidase and succinate dehydrogenase, at nonpermissive temperatures. In Escherichia coli, the UCA codon is recognized only by tRNA1 Ser. Several genes containing UCA codons are normally expressed after a temperature shift to 42°C in the divE mutant. Therefore, it is unlikely that the defect in protein synthesis at 42°C is simply caused by a defect in the decoding function of the mutant tRNA1 Ser. In this study, we sought to de

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5

Gorodetsky, C., CF Morel, and I. Tein. "P.133 Expanding the phenotype of TRNT1 mutations to include Leigh syndrome." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 45, s2 (2018): S51. http://dx.doi.org/10.1017/cjn.2018.235.

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Background: Children with biallelic mutations in TRNT1 have multi-organ involvement with congenital sideroblastic anemia, -B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) as well as seizures, ataxia and sensorineural hearing loss. The TRNT1 gene encodes the CCA-adding enzyme essential for maturation of both nuclear and mitochondrial transfer RNAs accounting for phenotypic pleitropy. Neurodegenerative Leigh syndrome has not been previously reported. Methods:Case summary: A Portuguese boy presented with global developmental delay, 2 episodes of infantile Leigh encephalop

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6

Fatica, Thet, Turaya Naas, Urszula Liwak, et al. "TRNT-1 Deficiency Is Associated with Loss of tRNA Integrity and Imbalance of Distinct Proteins." Genes 14, no. 5 (2023): 1043. http://dx.doi.org/10.3390/genes14051043.

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Mitochondrial diseases are a group of heterogeneous disorders caused by dysfunctional mitochondria. Interestingly, a large proportion of mitochondrial diseases are caused by defects in genes associated with tRNA metabolism. We recently discovered that partial loss-of-function mutations in tRNA Nucleotidyl Transferase 1 (TRNT1), the nuclear gene encoding the CCA-adding enzyme essential for modifying both nuclear and mitochondrial tRNAs, causes a multisystemic and clinically heterogenous disease termed SIFD (sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental de

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7

Das, Gautam, T. K. Dineshkumar, Swapna Thanedar, and Umesh Varshney. "Acquisition of a stable mutation in metY allows efficient initiation from an amber codon in Escherichia coli." Microbiology 151, no. 6 (2005): 1741–50. http://dx.doi.org/10.1099/mic.0.27915-0.

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Escherichia coli strains harbouring elongator tRNAs that insert amino acids in response to a termination codon during elongation have been generated for various applications. Additionally, it was shown that expression of an initiator tRNA containing a CUA anticodon from a multicopy plasmid in E. coli resulted in initiation from an amber codon. Even though the initiation-based system remedies toxicity-related drawbacks, its usefulness has remained limited for want of a strain with a chromosomally encoded initiator tRNA ‘suppressor’. E. coli K strains possess four initiator tRNA genes: the metZ,

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8

Giannelou, Angeliki, Hongying Wang, Qing Zhou, et al. "Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors." Annals of the Rheumatic Diseases 77, no. 4 (2018): 612–19. http://dx.doi.org/10.1136/annrheumdis-2017-212401.

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ObjectivesTo characterise the clinical features, immune manifestations and molecular mechanisms in a recently described autoinflammatory disease caused by mutations in TRNT1, a tRNA processing enzyme, and to explore the use of cytokine inhibitors in suppressing the inflammatory phenotype.MethodsWe studied nine patients with biallelic mutations in TRNT1 and the syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD). Genetic studies included whole exome sequencing (WES) and candidate gene screening. Patients’ primary cells were used for deep RNA

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9

Liu, Jiaqi, Jintian Xiao, Xiangyu Hao, and Xiangqun Yuan. "Unique Duplication of trnN in Odontoptilum angulatum (Lepidoptera: Pyrginae) and Phylogeny within Hesperiidae." Insects 12, no. 4 (2021): 348. http://dx.doi.org/10.3390/insects12040348.

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To explore the variation and relationship between gene rearrangement and phylogenetic effectiveness of mitogenomes among lineages of the diversification of the tribe Tagiadini in the subfamily Pyrginae, we sequenced the complete mitogenome of Odontoptilum angulatum. The genome is 15,361 bp with the typical 37 genes, a large AT-rich region and an additional trnN (trnN2), which is completely identical to trnN (sequence similarity: 100%). The gene order differs from the typical Lepidoptera-specific arrangement and is unique to Hesperiidae. The presence of a “pseudo-trnS1” in the non-coding region

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10

Yıldırım, Miraç, Ömer Bektaş, Ebru Tunçez, et al. "A Case of Combined Oxidative Phosphorylation Deficiency 35 Associated with a Novel Missense Variant of the <b><i>TRIT1</i></b> Gene." Molecular Syndromology 13, no. 2 (2021): 139–45. http://dx.doi.org/10.1159/000518373.

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Combined oxidative phosphorylation deficiency 35 (COXPD35) is a rare autosomal recessive disorder associated with homozygous or compound heterozygous mutations in the tRNA isopentenyltransferase (<i>TRIT1</i>) gene in chromosome 1p34.2. To date, only 10 types of allelic variants in the <i>TRIT1</i> gene have been previously reported in 9 patients with COXPD35. Herein, we describe a case with a novel homozygous missense variant in <i>TRIT1</i>. A 6-year, 6-month-old boy presented with global developmental delay, microcephaly, intractable seizures, and failure

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