ArticleJournal of veterinary internal medicine2020
KDM2B-associated paunch calf syndrome in Marchigiana cattle.
Article in Journal of veterinary internal medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.Genetics, selection, evolution : GSE · 2025Article
- A Heterozygous Missense Variant inAnimals : an open access journal from MDPI · 2021Article
- KDM2B-associated paunch calf syndrome in Marchigiana cattle.Journal of veterinary internal medicine · 2020Article
- MOCOS-associated renal syndrome in a Brown Swiss cattle.Journal of veterinary internal medicineArticle
- Familial osteochondrodysplastic and cardiomyopathic syndrome in Chianina cattle.Journal of veterinary internal medicineArticle
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundChianina, Romagnola, and Marchigiana are the 3 most important Italian breeds of cattle raised in the Apennine Mountains. Inherited disorders have been reported in the Chianina and Romagnola breeds but not in the Marchigiana breed. Recently, a case resembling recessively inherited KDM2B-associated paunch calf syndrome (PCS) in Romagnola cattle was identified in Marchigiana cattle. HYPOTHESIS/
objectivesTo characterize the features of the observed congenital anomaly, evaluate its possible genetic etiology, and determine the prevalence of the deleterious allele in the Marchigiana population. ANIMALS: A single stillborn Marchigiana calf was referred for clinicopathological examination because of the presence of PCS-like morphological lesions.
methodsThe animal was necropsied and the calf and its parents were genotyped. A PCR-based direct gene test was applied to determine the KDM2B genotype and 114 Marchigiana bulls were genotyped.
resultsThe pathological phenotype included facial deformities, enlarged fluid-filled abdomen, and hepatic fibrosis. The affected animal was the offspring of consanguineous mating and homozygous presence of the KDM2B missense variant was confirmed. Both parents were heterozygous for KDM2B and the prevalence of carriers in a selected population of Marchigiana bulls was <2%. CONCLUSIONS AND CLINICAL IMPORTANCE: The characteristic malformations and genetic findings were consistent with the diagnosis of PCS and provide evidence that the deleterious KDM2B variant initially detected in Romagnola cattle also occurs in the Marchigiana breed.
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