Associated Papers
Surveillance of a PLOD gene variant linked to fragile foal syndrome in Silesian horses in Poland: implications for genetic monitoring and breeding strategies.
Stefaniuk-Szmukier M et al.
Journal of Veterinary Research, 2025
Haplotype structure and heterozygosity around the fragile foal syndrome variant in Swedish Warmblod horses.
Ablondi M et al.
Animal Genetics, 2025
Mysteries of the collagen triple helix.
Bächinger HP et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2025
Biochemical characterization of collagen I in Warmblood Fragile Foal Syndrome horse lysyl hydroxylase 1 mutation.
Ishikawa Y et al.
Micropublication Biology, 2025
Additional evidence supports GRM6 p.Thr178Met as a cause of congenital stationary night blindness in three horse breeds.
Esdaile E et al.
Veterinary Ophthalmology, 2024
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).
Elcombe ME et al.
Equine Veterinary Journal, 2023
First reported case of fragile foal syndrome type 1 in the Thoroughbred caused by PLOD1 c.2032G>A.
Grillos AS et al.
Equine Veterinary Journal, 2022
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Sakaguchi N et al.
Npj Genomic Medicine, 2022
Performance of Swedish Warmblood fragile foal syndrome carriers and breeding prospects.
Ablondi M et al.
Genetics, Selection, Evolution : Gse, 2022
Quantifying the effect of Warmblood Fragile Foal Syndrome on foaling rates in the German riding horse population.
Wobbe M et al.
Plos One, 2022
Warmblood fragile foal syndrome causative single nucleotide polymorphism frequency in horses in Ireland.
Rowe Á et al.
Irish Veterinary Journal, 2021
De novo mutation of KIT causes extensive coat white patterning in a family of Berber horses.
Martin K et al.
Animal Genetics, 2021
Hanoverian F/W-line contributes to segregation of Warmblood fragile foal syndrome type 1 variant PLOD1:c.2032G>A in Warmblood horses.
Metzger J et al.
Equine Veterinary Journal, 2021
Development of a real-time PCR assay to detect the single nucleotide polymorphism causing Warmblood Fragile Foal Syndrome.
Flanagan S et al.
Plos One, 2021
Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States.
Reiter S et al.
Genes, 2020
Warmblood fragile foal syndrome type 1 mutation (PLOD1 c.2032G>A) is not associated with catastrophic breakdown and has a low allele frequency in the Thoroughbred breed.
Bellone RR et al.
Equine Veterinary Journal, 2020
Warmblood Fragile Foal Syndrome causative single nucleotide polymorphism frequency in Warmblood horses in Brazil.
Dias NM et al.
Veterinary Journal (london, England : 1997), 2019
Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3.
Scietti L et al.
Nature Communications, 2018
Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome.
Monthoux C et al.
Bmc Veterinary Research, 2015
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.
Rohrbach M et al.
Orphanet Journal of Rare Diseases, 2011
Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family.
Yeowell HN et al.
Human Mutation, 2000