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 putative SNPs in progressive retinal atrophy affected Canis lupus familiaris using exome sequencing.

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Dec 2015

Reddy Bhaskar, Kelawala Divyesh N, Shah Tejas, Patel Anand B, Patil Deepak B, Parikh Pinesh V, Patel Namrata, Parmar Nidhi, Mohapatra Amit B, Singh Krishna M, Menon Ramesh, Pandya Dipal, Jakhesara Subhash J, Koringa Prakash G, Rao Mandava V, Joshi Chaitanya G

Abstract excerpt

Progressive retinal atrophy (PRA) is one of the major causes of retinal photoreceptor cell degeneration in canines. The inheritance pattern of PRA is autosomal recessive and genetically heterogeneous. Here, using targeted sequencing technology, we have performed exome sequencing of 10 PRA-affected (Spitz=7, Cocker Spaniel=1, Lhasa Aphso=1 and Spitz-Labrador cross breed=1) and 6 normal (Spitz=5, Cocker Spaniel=1)...

Read the complete abstract on PubMed

Topics

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

Share to Conserved Sequence
Share to Dog Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome-Wide Association Study

Share to Molecular Sequence Annotation

Share to Mutation, Missense

Share to Retinal Degeneration

Source

Identifiers

PMID: 26515695
DOI: 10.1007/s00335-015-9607-6

Genes

APP
CPPED1
PITRM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Identification of putative SNPs in progressive retinal atrophy affected Canis lupus familiaris using exome sequencing.PMID 26515695Read ↗

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

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

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

Gene Panel Screening Across Canine Eye Disorders Highlights Genetic Heterogeneity and the Need for Molecular DiscoveriesSemantic proximity Read ↗

Genome sequence, comparative analysis and haplotype structure of the domestic dog.Semantic 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 ↗

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

An improved canine genome and a comprehensive catalogue of coding genes and non-coding transcripts.Semantic proximity Read ↗

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