Results 91 to 100 of about 883 (101)

A PUS7 gene pathogenic variant causing self‐injurious behavior, sleep disturbances, and developmental delay: A case report

American Journal of Medical Genetics Part A, 2023
AbstractPUS7 gene pathogenic variants cause a deficiency in an RNA‐independent pseudouridine synthase, which results in a neurodevelopmental phenotype characterized by various degrees of psychomotor delay, acquired microcephaly, aggressive behavior, and intellectual disability.
Alice Muda, Laura Malerba, Lucio Giordano, Elisa Fazzi, Patrizia Accorsi   +4 more
openaire   +2 more sources

Integrative analysis of RNA modification-related gene PUS7 in diagnosis, prognosis, and tumor microenvironment of hepatocellular carcinoma

Computer Methods and Programs in Biomedicine
Hepatocellular carcinoma is a highly aggressive cancer with a poor prognosis. RNA modifications play critical roles in regulating various biological functions in cancers. However, the involvement of RNA modification-related pseudouridine synthase (PUS) genes in hepatocellular carcinoma remains unclear.To explore the diagnostic and prognostic ...
Huimin Li, Meng Pan
exaly   +3 more sources

Evaluation of the Impact of a PUS7 Gene Variant on Dental Development: A Rare Case Report

Molecular Syndromology
Introduction: Pseudouridylation, the enzymatic isomerization of uridine to pseudouridine, is a widespread posttranscriptional RNA modification that contributes to RNA stability and regulation of gene expression. The PUS7 gene encodes pseudouridine synthase 7 (PUS7), and its biallelic pathogenic variants have been associated with a syndromic ...
Büşra Karaduran, Gülhanım Memiş, Canberk Toprak, Volkan Karaman, Mine Koruyucu, Ayça Dilruba Aslanger, Güven Toksoy, Zehra Oya Uyguner   +7 more
openaire   +1 more source

Integrative analysis of nanopore direct RNA sequencing data reveals a role of PUS7-dependent pseudouridylation in regulation of m ⁶ A and m ⁵ C modifications

Abstract Understanding the interactions between different RNA modifications is essential for unraveling their biological functions. Here, we report NanoPsiPy, a computational pipeline that employs nanopore direct RNA sequencing to identify pseudouridine (Ψ) sites and quantify their levels at single-nucleotide ...
Mohit, Bansal, Anirban, Kundu, Anamika, Gupta, Jane, Ding, Andrew, Gibson, Sanjay Varma, RudraRaju, Sunil, Sudarshan, Han-Fei, Ding   +7 more
openaire   +2 more sources

Unravelling the role of Pseudouridine (Ψ) modifier PUS7 in regulating macrophage phenotype

Pseudouridine (Ψ) (structural isomer of uridine) is known to play an important role in regulating RNA functions such as translation fidelity, stability, and splicing. One of the key enzymes regulating the Ψ modification is Pseudouridine synthase 7 (PUS7).
Gupta, Mayuk Saibal, Huart, Camille, Van Ginderachter, Jo   +2 more
openaire  

PUS7 promotes the proliferation of colorectal cancer cells by directly stabilizing SIRT1 to activate the Wnt/β-catenin pathway

Molecular Carcinogenesis, 2023
Shengnan Liu, Xiaoting Wu, Lili Lu
exaly  

The Identification of RNA Modification Gene PUS7 as a Potential Biomarker of Ovarian Cancer

Biology, 2021
Xiangqian Guo, Xiangqian Guo, Huimin Li
exaly  

A PUS7 gene pathogenic variant causing self-injurious behavior, sleep disturbances, and developmental delay: A case report

American Journal of Medical Genetics, Part A, 2023
Lucio Giordano, Laura Malerba, Patrizia Accorsi   +2 more
exaly  

Exploring the role of the master RNA regulator PUS7 and its neuronal microexon in brain development and autism spectrum disorder

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterised by significant genetic complexity and heterogeneity. Despite this diversity, affected individuals exhibit shared gene expression patterns and alternative splicing signatures, suggesting converging molecular mechanisms and common disease drivers.
openaire   +1 more source

Caractérisation biochimique, structurale et fonctionnelle des ARN : pseudouridine synthases Pus7 de la levure Saccharomyces cerevisiae et d’archaea thermophiles

La conversion des résidus U en pseudouridine (?) est la modification la plus fréquente dans les ARN. Cette réaction est catalysée par des ARN:?-synthases qui fonctionnent soit seules, soit au sein de particules snoRNP H/ACA composées de 4 protéines et d’un snoRNA. Nous avons démontré que l’ARN:?-synthase Pus7p de S.
openaire   +1 more source