Rnr1 | Ribonucleoside_diphosphate reductase large subunit
- Known as:
- Rnr1 | Ribonucleoside_diphosphate reductase large active sequence peptide
- Catalog number:
- AS09 576
- Category:
- -
- Supplier:
- Agris
- Gene target:
- Rnr1 | Ribonucleoside_diphosphate reductase large subunit
Related genes to: Rnr1 | Ribonucleoside_diphosphate reductase large subunit
- Gene:
- RNR1 NIH gene
- Name:
- RNA, ribosomal 45S cluster 1
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 13p12 not on reference assembly
- Locus Type:
- RNA, cluster
- Date approved:
- 2001-06-22
- Date modifiied:
- 2019-03-21
Related products to: Rnr1 | Ribonucleoside_diphosphate reductase large subunit
(Biotin Conjugates) Phospho-calcium channel 2A subunit Immunogen: peptide Host: Rabbit(cAMP free) Protein Kinase A regulatory subunit-I A Recombinant(cAMP free) Protein Kinase A regulatory subunit-I A Recombinant(FITC-conjugates) Phospho-calcium channel 2A subunit Immunogen: peptide Host: Rabbit(R)-(-)-Hydroxy Chloroquine Diphosphate C18H32ClN3O9P2 CAS: 158749-75-8(R)-(-)-Hydroxy Chloroquine Diphosphate CAS: 158749-75-8 Formula: C18H32ClN3O9P2(R)-D-myo-Inositol-1-(2,3-didecanoyloxy-propyl-hydrogenphosphate)-3,4-diphosphate Triammonium Salt CAS: Formula: C29H66N3O19P3(R)-D-myo-Inositol-1-(2,3-dilauroyloxy-propyl-hydrogenphosphate)-3,4-diphosphate Triammonium Salt CAS: Formula: C33H74N3O19P3(R)-D-myo-Inositol-1-(2,3-dipalmitoyloxy-propyl-hydrogenphosphate)-3,4-diphosphate Triammonium Salt CAS: Formula: C37H82N3O19P3(S)-(+)-Hydroxy Chloroquine Diphosphate C18H32ClN3O9P2 CAS: 158749-76-9(S)-(+)-Hydroxy Chloroquine Diphosphate CAS: 158749-76-9 Formula: C18H32ClN3O9P2([125I]-Tyr0)-Inhibin a-Subunit (1-32) (human)([125I]-Tyr0)-Inhibin a-Subunit (1-32) (human)([125I]-Tyr0)-Inhibin a-Subunit (1-32) (human), CE-marked, Liquid([125I]-Tyr0)-Inhibin a-Subunit (1-32) (human), CE-marked, Liquid Related articles to: Rnr1 | Ribonucleoside_diphosphate reductase large subunit
- This study aimed to characterize the Variant profile of the 4 common deafness-causing genes and evaluated the genotype-phenotype correlation of GJB2 c.109G > A variants in a neonatal cohort, providing insights for early diagnosis of congenital hearing loss. - Source: PubMed
Publication date: 2026/01/17
Li JianjunGuo MengYu WenwenMa LiZhang QiWang QiYang XueyuHe HongyunLiu Wenlan - The implementation of pharmacogenetics in Spain has experienced a significant boost in the last year, driven by the update of the genetic services portfolio of the National Health System, the national Summary of Product Characteristics (SmPC) biomarker database and the development and update of clinical guidelines by scientific societies and expert groups. However, the scope of this implementation is quite limited in the pediatric population because most studies do not include children, which in turn means that, in many cases, guidelines do not specify what to do in this population. This article reviews the tests included in the Common Portfolio of Genetic Services, drugs with pharmacogenetic recommendations in technical data sheets, and the main global and national pharmacogenetic guidelines, extracting and analyzing the existing information for the pediatric population. Drug-gene pairs with greater use in pediatrics are presented in more detail, such as proton pump inhibitors and CYP2C19, Abacavir, allopurinol, carbamazepine, oxcarbazepine, and phenytoin with HLA-A and HLA-B genes, voriconazole and CYP2C19, tacrolimus and CYP3A5, aminoglycosides and MT-RNR1, thiopurines and TMPT/NUDT15, or atomoxetine and CYP2D6. Despite current limitations, the use of pharmacogenetics in pediatrics can and should be implemented in those cases where regulatory agencies and/or scientific societies recommend it. - Source: PubMed
Publication date: 2026/01/13
Taladriz-Sender IreneSalvador-Martín SaraZapata-Cobo PaulaLópez-Fernández Luis AndrésSanjurjo-Sáez MaríaGarcía-González Xandra - Traditional newborn screening (tNBS) for inborn errors of metabolism (IEMs) and deafness has limitations, including the detection of few genetic disorders and variants, high false-positive rates, and long turnaround times. This study aimed to explore the clinical validity of newborn genetic screening (NBGS) in newborns screened for IEMs and deafness. - Source: PubMed
Publication date: 2025/11/06
Men ShuaiWang ZhiweiLiu ShuangTang XinxinLiu ShuaimeiZhao YaliWu YulinWang Leilei - This study explored genetic and drug-induced hearing loss by focusing on the m.827A>G variation of the MT-RNR1 gene. In particular, we investigated the variant's frequency, its association with hearing loss, and its potential interaction with gentamicin-induced damage within the Taiwanese adult population. - Source: PubMed
Publication date: 2025/11/05
Hua Man-WeiLee Ming-HungChen Yi-MingChen I-ChiehYen Ting-Ting - The vast majority of recurrent somatic mutations arising in tumors affect protein-coding genes in the nuclear genome. Here, through population-scale analysis of 14,106 whole tumor genomes, we report the discovery of highly recurrent mutations affecting both the small (12S, MT-RNR1) and large (16S, MT-RNR2) mitochondrial RNA subunits of the mitochondrial ribosome encoded within mitochondrial DNA (mtDNA). Compared to non-hotspot positions, mitochondrial rRNA hotspots preferentially affected positions under purifying selection in the germline and demonstrated structural clustering within the mitoribosome at mRNA and tRNA interacting positions. Using precision mtDNA base editing, we engineered models of an exemplar MT-RNR1 hotspot mutation, m.1227G>A. Multimodal profiling revealed a heteroplasmy-dependent decrease in mitochondrial function and loss of respiratory chain subunits from a heteroplasmic dosage of ~10%. Mutation of conserved positions in ribosomal RNA that disrupt mitochondrial translation therefore represent a class of functionally dominant, pathogenic mtDNA mutations that are under positive selection in cancer genomes. - Source: PubMed
Publication date: 2025/11/03
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