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

Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy.

Animal genetics - 1 Oct 2021

Urkasemsin G, Pongpanich M, Sariya L, Kongcharoen A, Buddhirongawatr R, Rungarunlert S, Ferreira J N, Chetruengchai W, Phokaew C, Srichomthong C, Shotelersuk V

Abstract excerpt

Progressive retinal atrophy (PRA), common autosomal recessive disorder affecting several dog breeds including Shih Tzu, is characterized by degeneration of photoreceptors leading to blindness. To identify PRA genetic variants, three affected and 15 unaffected Shih Tzu and 20 non-Shih Tzu were recruited. Dogs underwent ophthalmologic examination and electroretinography, revealing hallmark retina pathological...

Read the complete abstract on PubMed

Topics

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

Share to Breeding
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dog Diseases

Share to Homozygote

Share to Muscle Proteins

Share to Retinal Degeneration

Share to Whole Genome Sequencing

Source

Identifiers

PMID: 34231238
DOI: 10.1111/age.13118

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy.PMID 34231238Read ↗

Identification of the mutation causing progressive retinal atrophy in Old Danish Pointing Dog.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 ↗

Identification of putative SNPs in progressive retinal atrophy affected Canis lupus familiaris using exome sequencing.Semantic proximity Read ↗

A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal AtrophySemantic proximity Read ↗

Elucidating the genetic basis of canine progressive retinal atrophies in several breeds of dogSemantic proximity Read ↗

A Frameshift Mutation in Golden Retriever Dogs with Progressive Retinal Atrophy Endorses SLC4A3 as a Candidate Gene for Human Retinal DegenerationsSemantic proximity Read ↗

Preliminary characterization of a novel form of progressive retinal atrophy in the German Spitz dog associated with a frameshift mutation in GUCY2D.Semantic proximity Read ↗

Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene.Semantic proximity Read ↗

A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog.Semantic proximity Read ↗

An Intronic SINE insertion in FAM161A that causes exon-skipping is associated with progressive retinal atrophy in Tibetan Spaniels and Tibetan Terriers.Semantic proximity Read ↗

A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs.Semantic proximity Read ↗

Dogs and humans share a common susceptibility gene SRBD1 for glaucoma risk.Semantic proximity Read ↗

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