Associated Papers
EXOSC3 G191 Variants Trigger System-Wide Recalibration of RNA Processing Machinery.
Wijeratne HRS et al.
Biorxiv : the Preprint Server for Biology, 2026
Comparative analyses of disease-linked missense mutations in the RNA exosome modeled in budding yeast reveal distinct functional consequences in translation.
Sterrett MC et al.
Rna (new York, N.y.), 2025
EXOSC3 S1-domain variants implicated in PCH1b alter RNA exosome cap subunit abundance and thermal stability disrupting rRNA processing and targeting of AU-rich mRNA.
Runnebohm AM et al.
Biorxiv : the Preprint Server for Biology, 2025
Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies.
Škarica M et al.
Genes, 2025
Comparative analyses of disease-linked missense mutations in the RNA exosome modeled in budding yeast reveal distinct functional consequences in translation.
Sterrett MC et al.
Biorxiv : the Preprint Server for Biology, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Mutations in Genes Encoding Subunits of the RNA Exosome as a Potential Novel Cause of Thrombotic Microangiopathy.
Wijnsma KL et al.
International Journal of Molecular Sciences, 2024
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V et al.
Blood, 2023
Homozygous EXOSC3 c.395A>C Variants in Pontocerebellar Hypoplasia Type 1B: A Sibling Pair With Childhood Lethal Presentation and Literature Review.
Szeto CH et al.
Cureus, 2023
Atypical hemolytic uremic syndrome induced by SARS-CoV2 infection in infants with EXOSC3 mutation.
Van Quekelberghe C et al.
Pediatric Nephrology (berlin, Germany), 2022
Retrospective Diagnosis of Pontocerebellar Hypoplasia Type 1B in a Family with Two Deceased Newborn Children.
Bradinova I et al.
Journal of Pediatric Genetics, 2022
A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review.
Spyridakis AC et al.
Cureus, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children.
Radvanska E et al.
Bratislavske Lekarske Listy, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
Slavotinek A et al.
Human Molecular Genetics, 2020
RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels.
Müller JS et al.
Life Science Alliance, 2020
A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons.
Morton DJ et al.
Plos Genetics, 2020
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.
Saugier-Veber P et al.
European Journal of Medical Genetics, 2020
The RNA Exosome and Human Disease.
Fasken MB et al.
Methods in Molecular Biology (clifton, N.j.), 2020
MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants.
Chennen K et al.
Plos One, 2020
Modeling Pathogenic Variants in the RNA Exosome.
de Amorim J et al.
Rna & Disease (houston, Tex.), 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.
Beheshtian M et al.
Clinical Genetics, 2019
Disruption of protein function by pathogenic mutations: common and uncommon mechanisms 1.
Taipale M
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2019
Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.
Pinto MM et al.
Muscle & Nerve, 2019
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
Kvarnung M et al.
Clinical Genetics, 2018
A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B).
François-Moutal L et al.
Acs Chemical Biology, 2018
Nuclear mRNA Surveillance Mechanisms: Function and Links to Human Disease.
Singh P et al.
Journal of Molecular Biology, 2018
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.
Ivanov I et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
What's new in pontocerebellar hypoplasia? An update on genes and subtypes.
van Dijk T et al.
Orphanet Journal of Rare Diseases, 2018
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Burns DT et al.
American Journal of Human Genetics, 2018
The RNA exosome and RNA exosome-linked disease.
Morton DJ et al.
Rna (new York, N.y.), 2018
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Stals KL et al.
Prenatal Diagnosis, 2018
[Familial EXOSC3-related pontocerebellar hypoplasia].
Di Giovambattista AP et al.
Anales De Pediatria (barcelona, Spain : 2003), 2017
Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae.
Gillespie A et al.
Rna (new York, N.y.), 2017
Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast.
Fasken MB et al.
Genetics, 2017
dSysMap: exploring the edgetic role of disease mutations.
Mosca R et al.
Nature Methods, 2015
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
Halevy A et al.
Journal of Neurology, 2014
Pontocerebellar hypoplasia.
Rudnik-Schöneborn S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Eggens VR et al.
Orphanet Journal of Rare Diseases, 2014