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

Variants in the PRPF8 Gene are Associated with Glaucoma.

Molecular neurobiology - 1 May 2018

Micheal Shazia, Hogewind Barend F, Khan Muhammad Imran, Siddiqui Sorath Noorani, Zafar Saemah Nuzhat, Akhtar Farah, Qamar Raheel, Hoyng Carel B, den Hollander Anneke I

Abstract excerpt

Glaucoma is the cause of irreversible blindness worldwide. Mutations in six genes have been associated with juvenile- and adult-onset familial primary open angle glaucoma (POAG) prior to this report but they explain only a small proportion of the genetic load. The aim of the study is to identify the novel genetic cause of the POAG in the families with adult-onset glaucoma. Whole exome sequencing (WES) was...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Family

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Glaucoma

Share to Mutation

Share to Pedigree

Share to Phenotype

Share to RNA-Binding Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 28707069
DOI: 10.1007/s12035-017-0673-5
PMCID: PMC5884903

Genes

PRPF8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variants in the PRPF8 Gene are Associated with Glaucoma.PMID 28707069Read ↗

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.Semantic proximity Read ↗

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani familySemantic proximity Read ↗

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.Semantic proximity Read ↗

Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma.Semantic proximity Read ↗

Whole Exome Sequencing identifies multiple pathogenic variants in a large south Indian family with Primary Open Angle GlaucomaSemantic proximity Read ↗

Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree.Semantic proximity Read ↗

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.Semantic proximity Read ↗

Whole-genome sequencing study of 488,888 individuals identifies rare variants and genes associated with glaucomaSemantic proximity Read ↗

Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons.Semantic proximity Read ↗

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.Semantic proximity Read ↗

Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.Semantic proximity Read ↗

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