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

Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.

Human genetics - 1 Sept 2017

Cygan Kamil J, Soemedi Rachel, Rhine Christy L, Profeta Abraham, Murphy Eileen L, Murray Michael F, Fairbrother William G

Abstract excerpt

Defective splicing is a common cause of genetic diseases. On average, 13.4% of all hereditary disease alleles are classified as splicing mutations with most mapping to the critical GT or AG nucleotides within the 5' and 3' splice sites. However, splicing mutations are underreported and the fraction of splicing mutations that compose all disease alleles varies greatly across disease gene. For example, there is a...

Read the complete abstract on PubMed

Topics

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

Share to Cell Line, Tumor
Share to Exome
Share to Retinal Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Retinoblastoma

Share to Retinoblastoma Binding Proteins

Share to RNA, Neoplasm

Share to RNA Splicing

Share to Ubiquitin-Protein Ligases

Source

Open in PubMed Open full text

Identifiers

PMID: 28780672
DOI: 10.1007/s00439-017-1833-4
PMCID: PMC6699175

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.PMID 28780672Read ↗

A novel deep intronic low penetrance RB1 variant in a retinoblastoma family.Semantic proximity Read ↗

Splicing mutations in inherited retinal diseases.Semantic proximity Read ↗

Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma.Semantic proximity Read ↗

A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families.Semantic proximity Read ↗

Comprehensive identification of pathogenic variants in retinoblastoma by long- and short-read sequencing.Semantic proximity Read ↗

Hereditary retinoblastoma iPSC model reveals aberrant spliceosome function driving bone malignancies.Semantic proximity Read ↗

Next-Generation Sequencing of Retinoblastoma Identifies Pathogenic Alterations beyond RB1 Inactivation That Correlate with Aggressive Histopathologic FeaturesSemantic proximity Read ↗

Exonic Variants that Affect Splicing - An Opportunity for "Hidden" Mutations Causing Inherited Retinal Diseases.Semantic proximity Read ↗

Identification of novel genes by targeted exome sequencing in Retinoblastoma.Semantic proximity Read ↗

Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan.Semantic proximity Read ↗

Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma.Semantic proximity Read ↗

Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.Semantic proximity Read ↗

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