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

Identification of TP53BP2 as a Novel Candidate Gene for Primary Open Angle Glaucoma by Whole Exome Sequencing in a Large Multiplex Family.

Molecular neurobiology - 1 Feb 2018

Micheal Shazia, Saksens Nicole T M, Hogewind Barend F, Khan Muhammad Imran, Hoyng Carel B, den Hollander Anneke I

Abstract excerpt

Primary open angle glaucoma (POAG) is a major type of glaucoma characterized by progressive loss of retinal ganglion cells with associated visual field loss without an identifiable secondary cause. Genetic factors are considered to be major contributors to the pathogenesis of glaucoma. The aim of the study was to identify the causative gene in a large family with POAG by applying whole exome sequencing (WES). WES...

Read the complete abstract on PubMed

Topics

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

Share to Apoptosis Regulatory Proteins
Share to Computer Simulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genetic Predisposition to Disease

Share to Genetic Variation

Share to Glaucoma, Open-Angle

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 28150229
DOI: 10.1007/s12035-017-0403-z
PMCID: PMC5820370

Variants

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

Identification of TP53BP2 as a Novel Candidate Gene for Primary Open Angle Glaucoma by Whole Exome Sequencing in a Large Multiplex Family.PMID 28150229Read ↗

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 ↗

Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma.Semantic proximity Read ↗

Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.Semantic proximity Read ↗

Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital GlaucomaSemantic proximity Read ↗

Variants in the PRPF8 Gene are Associated with Glaucoma.Semantic proximity Read ↗

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.Semantic proximity Read ↗

A common variant near TGFBR3 is associated with primary open angle glaucoma.Semantic proximity Read ↗

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma.Semantic proximity Read ↗

Family-based analysis identified CD2 as a susceptibility gene for primary open angle glaucoma in Chinese Han population.Semantic proximity Read ↗

Molecular Analysis of NOTCH2 in Patients with Primary Open-Angle Glaucoma.Semantic proximity Read ↗

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populationsSemantic proximity Read ↗

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