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

Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma.

The Journal of clinical investigation - 1 Dec 2022

Fu Haojie, Siggs Owen M, Knight Lachlan Sw, Staffieri Sandra E, Ruddle Jonathan B, Birsner Amy E, Collantes Edward Ryan, Craig Jamie E, Wiggs Janey L, D'Amato Robert J

Abstract excerpt

Glaucoma is a highly heritable disease that is a leading cause of blindness worldwide. Here, we identified heterozygous thrombospondin 1 (THBS1) missense alleles altering p.Arg1034, a highly evolutionarily conserved amino acid, in 3 unrelated and ethnically diverse families affected by congenital glaucoma, a severe form of glaucoma affecting children. Thbs1R1034C-mutant mice had elevated intraocular pressure...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Amino Acids

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Glaucoma

Share to Glaucoma and retinal disorders

Share to Thrombospondin 1

Share to Trabecular Meshwork

Source

Open in PubMed Open full text

Identifiers

PMID: 36453543
DOI: 10.1172/JCI156967
PMCID: PMC9711877

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma.PMID 36453543Read ↗

Identification of Missense Extracellular Matrix Gene Variants in a Large Glaucoma Pedigree and Investigation of the N700S Thrombospondin-1 Variant in Normal and Glaucomatous Trabecular Meshwork CellsSemantic proximity Read ↗

Thrombospondin Mutations and Patients With Primary Congenital Glaucoma in a United States Population.Semantic proximity Read ↗

Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.Semantic proximity Read ↗

The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the DiseaseSemantic proximity Read ↗

The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease.Semantic proximity Read ↗

Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucoma.Semantic proximity Read ↗

Serine to proline mutation at position 341 of MYOC impairs trabecular meshwork function by causing autophagy deregulationSemantic proximity Read ↗

Altered Ocular Fibrillin Microfibril Composition in Mice With a Glaucoma-Causing Mutation of Adamts10.Semantic proximity Read ↗

Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.Semantic proximity Read ↗

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.Semantic proximity Read ↗

Corneal Dystrophy Mutations Drive Pathogenesis by Targeting TGFBIp Stability and Solubility in a Latent Amyloid-forming Domain.Semantic proximity Read ↗

Serine to proline mutation at position 341 of MYOC impairs trabecular meshwork function by causing autophagy deregulationSemantic proximity Read ↗

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