Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly

18 Feb 2019

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Peptidase Inhibition and Analysis
Share to RNA and protein synthesis mechanisms
Share to RNA modifications and cancer

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 30778726
DOI: 10.1007/s00439-019-01980-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephalyPMID 30778726Read ↗

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.Semantic proximity Read ↗

A PUS7 gene pathogenic variant causing self-injurious behavior, sleep disturbances, and developmental delay: A case report.Semantic proximity Read ↗

PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum.Semantic proximity Read ↗

Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.Semantic proximity Read ↗

The importance of pseudouridylation: human disorders related to the fifth nucleosideSemantic proximity Read ↗

SENP7-Related Fatal Arthrogryposis Multiplex Congenita and Immunodeficiency: A Novel Missense Variation and Syndromic Delineation.Semantic proximity Read ↗

A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.Semantic proximity Read ↗

A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency.Semantic proximity Read ↗

Targeted pseudouridylation: An approach for suppressing nonsense mutations in disease genesSemantic proximity Read ↗

C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification.Semantic proximity Read ↗

Trim71/lin-41 Links an Ancient miRNA Pathway to Human Congenital HydrocephalusSemantic proximity Read ↗

scaRNA1 Levels Alter Pseudouridylation in Spliceosomal RNA U2 Affecting Alternative mRNA Splicing and Embryonic DevelopmentSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.