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

FYCO1 Frameshift Deletion in Wirehaired Pointing Griffon Dogs with Juvenile Cataract.

Genes - 11 Feb 2022

Rudd Garces Gabriela, Christen Matthias, Loechel Robert, Jagannathan Vidhya, Leeb Tosso

Abstract excerpt

Different breed-specific inherited cataracts have been described in dogs. In this study, we investigated an inbred family of Wirehaired Pointing Griffon dogs in which three offspring were affected by juvenile cataract. The pedigree suggested monogenic autosomal recessive inheritance of the trait. Whole-genome sequencing of an affected dog revealed 12 protein-changing variants that were not present in 566 control...

Read the complete abstract on PubMed

Topics

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

Share to Cataract
Share to Dogs
Share to Frameshift Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mice, Knockout

Share to Pedigree

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 35205377
DOI: 10.3390/genes13020334
PMCID: PMC8871958

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

FYCO1 Frameshift Deletion in Wirehaired Pointing Griffon Dogs with Juvenile Cataract.PMID 35205377Read ↗

A Novel Mutation in the FYCO1 Gene Causing Congenital Cataract: Case Study of a Chinese Family.Semantic proximity Read ↗

Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71.Semantic proximity Read ↗

Association study of candidate genes for primary cataracts and fine-mapping of a candidate region on dog chromosome 1 in Entlebucher mountain dogs.Semantic proximity Read ↗

A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs.Semantic proximity Read ↗

CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs.Semantic proximity Read ↗

Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1.Semantic proximity Read ↗

A CRYBB2 mutation in a Taiwanese family with autosomal dominant cataract.Semantic proximity Read ↗

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.Semantic proximity Read ↗

Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract.Semantic proximity Read ↗

Association of FOXC1 Duplications With Juvenile Open-Angle Glaucoma.Semantic proximity Read ↗

Mutations in FYCO1 cause autosomal-recessive congenital cataracts.Semantic proximity Read ↗

Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy.Semantic proximity Read ↗

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