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ADAT3‐related intellectual disability: Further delineation of the phenotype
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1002/mgg3.97openalex-snapshot
Genetics and genomic medicine in Saudi Arabia
inferredcites →https://doi.org/10.1016/j.molmed.2014.01.008openalex-snapshot
Role of tRNA modifications in human diseases
inferredcites →https://doi.org/10.1016/s0300-9084(02)01446-3openalex-snapshot
RNA editing by adenosine deaminases generates RNA and protein diversity
inferredcites →https://doi.org/10.1126/science.286.5442.1146openalex-snapshot
An Adenosine Deaminase that Generates Inosine at the Wobble Position of tRNAs
inferredcites →https://doi.org/10.1136/jmedgenet-2012-101378openalex-snapshot
Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus
inferredcites →https://doi.org/10.1152/physrev.00036.2006openalex-snapshot
Noncoding RNAs and RNA Editing in Brain Development, Functional Diversification, and Neurological Disease
inferredcites →https://doi.org/10.1186/s13059-014-0572-2openalex-snapshot
De novo assembly of bacterial transcriptomes from RNA-seq data
inferredcites →https://doi.org/10.1186/s13059-015-0693-2openalex-snapshot
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases
inferredcites →https://doi.org/10.1186/s13059-015-0779-xopenalex-snapshot
Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism
inferredcites →https://doi.org/10.3390/ijms160817303openalex-snapshot
Distribution of ADAT-Dependent Codons in the Human Transcriptome
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.2139/ssrn.4480199openalex-extracted
ADAT3 Related Autosomal Recessive Intellectual Disability: A Case Report
inferred← citeshttps://doi.org/10.1002/ajmg.a.37877openalex-snapshot
The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM‐PL): Report of two additional patients
inferred← citeshttps://doi.org/10.1002/ajmg.a.38615openalex-snapshot
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities
inferred← citeshttps://doi.org/10.1002/humu.23976openalex-snapshot
An intellectual disability‐associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity
inferred← citeshttps://doi.org/10.1007/s00018-021-03948-xopenalex-snapshot
Modifications of the human tRNA anticodon loop and their associations with genetic diseases
inferred← citeshttps://doi.org/10.1007/s00439-016-1665-7openalex-snapshot
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition
inferred← citeshttps://doi.org/10.1016/bs.mie.2021.06.008openalex-snapshot
Detection of tRNA-specific adenosine deaminase activity and wobble inosine modification in human cell lysates
inferred← citeshttps://doi.org/10.1016/j.ajhg.2022.02.001openalex-snapshot
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
inferred← citeshttps://doi.org/10.1016/j.bbagrm.2018.11.007openalex-snapshot
The emerging impact of tRNA modifications in the brain and nervous system
inferred← citeshttps://doi.org/10.1016/j.ejmg.2018.10.001openalex-snapshot
A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome
inferred← citeshttps://doi.org/10.1016/j.jbc.2023.105089openalex-snapshot
Effect of mRNA/tRNA mutations on translation speed: Implications for human diseases
inferred← citeshttps://doi.org/10.1016/j.pneurobio.2022.102267openalex-snapshot
The role of altered translation in intellectual disability and epilepsy
inferred← citeshttps://doi.org/10.1038/s41380-022-01585-9openalex-snapshot
The tRNA regulome in neurodevelopmental and neuropsychiatric disease
inferred← citeshttps://doi.org/10.1038/s41436-018-0138-xopenalex-snapshot
Autozygome and high throughput confirmation of disease genes candidacy
inferred← citeshttps://doi.org/10.1038/s41439-018-0007-9openalex-snapshot
A novel 8-bp duplication in ADAT3 causes mild intellectual disability
inferred← citeshttps://doi.org/10.1038/s41467-022-34441-zopenalex-snapshot
Structural basis for sequence-independent substrate selection by eukaryotic wobble base tRNA deaminase ADAT2/3
inferred← citeshttps://doi.org/10.1038/s41598-025-06857-2openalex-snapshot
ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant
inferred← citeshttps://doi.org/10.1055/s-0039-1693151openalex-snapshot
Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability
inferred← citeshttps://doi.org/10.1080/15476286.2024.2442856openalex-snapshot
tRNA modifications: greasing the wheels of translation and beyond
inferred← citeshttps://doi.org/10.1093/brain/awaf109openalex-snapshot
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration
inferred← citeshttps://doi.org/10.1093/nar/gkab436openalex-snapshot
The structure of the mouse ADAT2/ADAT3 complex reveals the molecular basis for mammalian tRNA wobble adenosine-to-inosine deamination
inferred← citeshttps://doi.org/10.1093/nar/gkab461openalex-snapshot
Human tRNAs with inosine 34 are essential to efficiently translate eukarya-specific low-complexity proteins
inferred← citeshttps://doi.org/10.1093/nar/gkz011openalex-snapshot
Matching tRNA modifications in humans to their known and predicted enzymes
inferred← citeshttps://doi.org/10.1101/2022.10.24.22281480openalex-snapshot
PhenoScore: AI-based phenomics to quantify rare disease and genetic variation
inferred← citeshttps://doi.org/10.1101/817247openalex-snapshot
A missense variant impairing TRMT1 function in tRNA modification is linked to intellectual disability
inferred← citeshttps://doi.org/10.1111/ahg.12460openalex-snapshot
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing
inferred← citeshttps://doi.org/10.1111/ene.70610openalex-snapshot
Identification and Functional Characterization of Novel and Recurrent NTRK1 Variants in Chinese Families With Congenital Insensitivity to Pain With Anhidrosis: A Combined Clinical, Genetic, and Functional Study
inferred← citeshttps://doi.org/10.1128/mcb.00203-19openalex-snapshot
Formation of tRNA Wobble Inosine in Humans Is Disrupted by a Millennia-Old Mutation Causing Intellectual Disability
inferred← citeshttps://doi.org/10.1186/s12915-020-00920-2openalex-snapshot
Crystal structure of the yeast heterodimeric ADAT2/3 deaminase
inferred← citeshttps://doi.org/10.1212/nxg.0000000000200156openalex-snapshot
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder
inferred← citeshttps://doi.org/10.1242/dmm.050715openalex-snapshot
Founder mutations and rare disease in the Arab world
inferred← citeshttps://doi.org/10.1261/rna.076380.120openalex-snapshot
Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder
inferred← citeshttps://doi.org/10.21203/rs.3.rs-46782/v1openalex-snapshot
Exome Sequencing Revealed Mutations in ADAT3 and HERC2 Genes in two Sudanese Families with Syndromic Mental Retardation
inferred← citeshttps://doi.org/10.3390/genes9120607openalex-snapshot
tRNA-Derived Small RNAs: Biogenesis, Modification, Function and Potential Impact on Human Disease Development
inferred← citeshttps://doi.org/10.3390/ijms19123738openalex-snapshot
Impact of tRNA Modifications and tRNA-Modifying Enzymes on Proteostasis and Human Disease
inferred← citeshttps://doi.org/10.54014/mvpm-tjdsopenalex-snapshot
RNA-seq data analysis of a human lung carcinoma cell line (A549) and investigating the role of NF-kappa B as an effector of ATF3 during Zika virus infection
inferred← citeshttps://doi.org/10.6084/m9.figshare.13331982openalex-snapshot
Additional file 10 of Crystal structure of the yeast heterodimeric ADAT2/3 deaminase
inferred← citeshttps://doi.org/10.6084/m9.figshare.13331988openalex-snapshot
Additional file 11 of Crystal structure of the yeast heterodimeric ADAT2/3 deaminase
inferred← citeshttps://doi.org/10.6084/m9.figshare.13331991openalex-snapshot
Additional file 12 of Crystal structure of the yeast heterodimeric ADAT2/3 deaminase
inferred← citeshttps://doi.org/10.6084/m9.figshare.13331994openalex-snapshot
Additional file 1 of Crystal structure of the yeast heterodimeric ADAT2/3 deaminase
inferred← citeshttps://doi.org/10.6084/m9.figshare.13331997openalex-snapshot
Additional file 2 of Crystal structure of the yeast heterodimeric ADAT2/3 deaminase
inferred← citeshttps://doi.org/10.6084/m9.figshare.13332000openalex-snapshot
Additional file 3 of Crystal structure of the yeast heterodimeric ADAT2/3 deaminase
inferred← citeshttps://doi.org/10.6084/m9.figshare.13332003openalex-snapshot
Additional file 4 of Crystal structure of the yeast heterodimeric ADAT2/3 deaminase
inferred← citeshttps://doi.org/10.6084/m9.figshare.13332006openalex-snapshot
Additional file 5 of Crystal structure of the yeast heterodimeric ADAT2/3 deaminase
inferred← citeshttps://doi.org/10.6084/m9.figshare.13332009openalex-snapshot
Additional file 6 of Crystal structure of the yeast heterodimeric ADAT2/3 deaminase
inferred← citeshttps://doi.org/10.6084/m9.figshare.13332012openalex-snapshot
Additional file 7 of Crystal structure of the yeast heterodimeric ADAT2/3 deaminase
inferred← citeshttps://doi.org/10.6084/m9.figshare.13332015openalex-snapshot
Additional file 8 of Crystal structure of the yeast heterodimeric ADAT2/3 deaminase
inferred← citeshttps://doi.org/10.6084/m9.figshare.13332018openalex-snapshot
Additional file 9 of Crystal structure of the yeast heterodimeric ADAT2/3 deaminase
inferred← citeshttps://doi.org/10.70675/421336dcz88dbz4011z82b9z38a51f3ba7daopenalex-snapshot
Identifying candidate genes predisposing to hereditary spinocerebellar degeneration in a cohort of Sudanese families
inferred← citeshttps://doi.org/10.70675/c4e031efz0a8bz4cfaz93abza990eb954d53openalex-snapshot
Comprendre le rôle des complexes de modification de l’ARNt ADAT3/ADAT2 & WDR4/METTL1 pendant le développement du cortex cérébral
inferred← citeshttps://doi.org/10.70675/c6b28473zf6b6z4024z99bfz05629f0484d7openalex-snapshot
Biochemical, biophysical and structural study of proteins associated to human diseases : tcDAC2 and ADAT complex
inferred← citeshttps://doi.org/10.7759/cureus.19833openalex-snapshot
A Rare Case of Adenosine Deaminase tRNA-Specific 3 Mutation, Adrenal Insufficiency, and Rhabdomyolysis
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