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

Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2024

Xiao Bing, Dai Weiqian, Zhan Yongkun, Qiu Wenjuan, Zhang Huiwen, Liu DanPing, Xu Na, Yu Yongguo

Abstract excerpt

PURPOSE: Rare genetic variants in the PURA gene cause the PURA-related neurodevelopmental disorder (PURA-NDD), characterized by neonatal abnormalities and developmental delay. Using genome-wide DNA methylation analysis on patients with PURA variants, we aim to establish a PURA-NDD-specific methylation profile and provide further insights on the molecular basis of the PURA-NDD. METHODS: Twenty three individuals...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to Epigenesis, Genetic

Share to Genome-Wide Association Study

Share to Haploinsufficiency

Share to Infant

Share to Neurodevelopmental Disorders

Source

Identifiers

PMID: 38770750
DOI: 10.1016/j.gim.2024.101167

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders.PMID 38770750Read ↗

PURA-Related Neurodevelopmental Disorder: Insight from Eight New Cases.Semantic proximity Read ↗

Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies.Semantic proximity Read ↗

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.Semantic proximity Read ↗

A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.Semantic proximity Read ↗

A clinical analysis and diagnosis course of children with PURA-related neurodevelopmental disorders in Tianjin, ChinaSemantic proximity Read ↗

Expanding The Clinical Phenotype and Genetic Spectrum of PURA-Related Neurodevelopmental DisordersSemantic proximity Read ↗

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.Semantic proximity Read ↗

DNA methylation signatures for chromatinopathies: current challenges and future applications.Semantic proximity Read ↗

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.Semantic proximity Read ↗

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.Semantic proximity Read ↗

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylomeSemantic proximity Read ↗

Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.Semantic proximity Read ↗

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