Page last updated: 2024-08-21

pseudouridine and Intellectual Disability

pseudouridine has been researched along with Intellectual Disability in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's2 (66.67)24.3611
2020's1 (33.33)2.80

Authors

AuthorsStudies
Biela, A; Biela, M; Chmielewska, JJ; Chramiec-Głąbik, A; Dobosz, D; Dziembowska, M; Glatt, S; Gos, M; Jeżowski, J; Kościelniak, A; Kosińska, J; Kuzniewska, B; Laczmanska, I; Lin, TY; Nowak, J; Ploski, R; Rzonca-Niewczas, S; Smigiel, R1
Abdel-Salam, GMH; Al-Sheddi, T; Alazami, AM; Alkuraya, FS; Alobeid, E; Maddirevula, S; Phizicky, EM; Sayed, ISM; Shaheen, R; Tasak, M1
Alkuraya, FS; Alobeid, E; Ewida, N; Faqeih, E; Han, L; Phizicky, EM; Shaheen, R1

Other Studies

3 other study(ies) available for pseudouridine and Intellectual Disability

ArticleYear
Destabilization of mutated human PUS3 protein causes intellectual disability.
    Human mutation, 2022, Volume: 43, Issue:12

    Topics: Humans; Hydro-Lyases; Intellectual Disability; Pseudouridine; RNA Processing, Post-Transcriptional

2022
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.
    Human genetics, 2019, Volume: 138, Issue:3

    Topics: Adolescent; Amino Acid Sequence; Child; Chromosome Mapping; Consanguinity; Exome Sequencing; Female; Genes, Recessive; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Intellectual Disability; Male; Microcephaly; Mutation; Pedigree; Phenotype; Pseudouridine; RNA, Transfer

2019
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.
    Human genetics, 2016, Volume: 135, Issue:7

    Topics: Adolescent; Child; Child, Preschool; Cognition; Exome; Female; Homozygote; Humans; Hydro-Lyases; Intellectual Disability; Mutation; Pedigree; Phenotype; Pseudouridine; RNA Processing, Post-Transcriptional; RNA, Transfer

2016