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 a mutation associated with fatal Foal Immunodeficiency Syndrome in the Fell and Dales pony.

PLoS genetics - 1 Jul 2011

Fox-Clipsham Laura Y, Carter Stuart D, Goodhead Ian, Hall Neil, Knottenbelt Derek C, May Paul D F, Ollier William E, Swinburne June E

Abstract excerpt

The Fell and Dales are rare native UK pony breeds at risk due to falling numbers, in-breeding, and inherited disease. Specifically, the lethal Mendelian recessive disease Foal Immunodeficiency Syndrome (FIS), which manifests as B-lymphocyte immunodeficiency and progressive anemia, is a substantial threat. A significant percentage (∼10%) of the Fell ponies born each year dies from FIS, compromising the long-term...

Read the complete abstract on PubMed

Topics

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

Share to B-Lymphocytes
Share to Chromosome Mapping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes

Share to Genome-Wide Association Study

Share to Horses

Share to Immunologic Deficiency Syndromes

Share to Sequence Homology, Amino Acid

Share to Symporters

Source

Open in PubMed Open full text

Identifiers

PMID: 21750681
DOI: 10.1371/journal.pgen.1002133
PMCID: PMC3131283

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 a mutation associated with fatal Foal Immunodeficiency Syndrome in the Fell and Dales pony.PMID 21750681Read ↗

Foal immunodeficiency syndrome : identification of the causal mutationSemantic proximity Read ↗

Population screening of endangered horse breeds for the foal immunodeficiency syndrome mutation.Semantic proximity Read ↗

Prevalence of the RAPGEF5 c.2624C>A and PLOD1 c.2032G>A variants associated with equine familial isolated hypoparathyroidism and fragile foal syndrome in the US Thoroughbred population (1988-2019).Semantic proximity Read ↗

Predicted genetic burden and frequency of phenotype-associated variants in the horse.Semantic proximity Read ↗

Investigation of Cerebellar Abiotrophy (CA), Lavender Foal Syndrome (LFS), and Severe Combined Immunodeficiency (SCID) Variants in a Cohort of Three MENA Region Horse Breeds.Semantic proximity Read ↗

Identification of genomic loci associated with Rhodococcus equi susceptibility in foals.Semantic proximity Read ↗

Fragile Foal Syndrome (PLOD1 c.2032G>A) occurs across diverse horse populations.Semantic proximity Read ↗

EPAS1 Gain-of-Function Mutation Contributes to High-Altitude Adaptation in Tibetan HorsesSemantic proximity Read ↗

Fragile foal syndrome: manifestations, heterozygous advantage and the future of breeding policies.Semantic proximity Read ↗

Sequence analysis of the equine SLC26A2 gene locus on chromosome 14q15-->q21.Semantic proximity Read ↗

Hanoverian F/W-line contributes to segregation of Warmblood fragile foal syndrome type 1 variant PLOD1:c.2032G>A in Warmblood horses.Semantic proximity Read ↗

In a shake of a lamb's tail: using genomics to unravel a cause of chondrodysplasia in Texel sheep.Semantic proximity Read ↗

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