FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4283016952> ?p ?o ?g. }

• W4283016952 endingPage "100569" @default.
• W4283016952 startingPage "100569" @default.
• W4283016952 abstract "In the last two decades, the molecular cause of six monogenic autosomal recessive disorders has been identified in native Italian beef cattle: two different ATP2A1 variants for the pseudomyotonia congenita, the first in Chianina and Romagnola (PMT1) and the second in Romagnola (PMT2); a KDM2B variant for the paunch calf syndrome (PCS) in Marchigiana and Romagnola; a NID1 variant for the congenital cataract (CC) in Romagnola; a LAMB1 variant for the hemifacial microsomia (HFM) in Romagnola; an ABCA12 variant for the ichthyosis fetalis (IF) in Chianina and a FA2H variant for the ichthyosis congenita (IC) in Chianina. The aim of this study was to evaluate the potential impact of these disorders in the affected Italian populations. For this purpose, 3331 Chianina, 2812 Marchigiana and 1680 Romagnola bulls born in the last 40 years were considered. The allelic frequency (AF) of the variant for PMT1 was 1.0% in Romagnola, 4.6% in Marchigiana and 5.9% in Chianina. The AF of the variant for PMT2 was 3.3% in Romagnola and 0% in the other two breeds. The AF of the variant for PCS was 11.7% in Romagnola, 2.0% in Marchigiana and 0% in Chianina. The AF of the variants for CC, HFM, IF and IC resulted below 3%, being the variants detected only in the breed populations in which they were previously reported. Considering a selected male population in the single breed, Chianina showed carrier prevalence of 11.9% for PMT1, 7.7% for IC and 6.4% for IF. Romagnola showed carrier prevalence of 23.4% for PCS, 6.7% for PMT2, 4.1% for HFM, 3.2% for CC and 2.0% for PMT1. Marchigiana showed carrier prevalence of 9.1% for PMT1 and 4.0% for PCS. With respect to the Romagnola cattle, the concerning presence of a total of five defect alleles in the population hampers a general approach based on the prevention of carriers from artificial insemination. However, identification of carriers may allow conscious mating to prevent the risk of homozygous descendants as well as the spread of heterozygous offspring. Therefore, systematic genotyping for all seven known harmful alleles is recommended to prevent risk mating between carriers, in particular to avoid the occurrence of affected offspring." @default.
• W4283016952 created "2022-06-18" @default.
• W4283016952 creator A5022898522 @default.
• W4283016952 creator A5028488175 @default.
• W4283016952 creator A5047403471 @default.
• W4283016952 creator A5063839028 @default.
• W4283016952 creator A5088989647 @default.
• W4283016952 date "2022-07-01" @default.
• W4283016952 modified "2023-10-18" @default.
• W4283016952 title "Short communication: Prevalence of deleterious variants causing recessive disorders in Italian Chianina, Marchigiana and Romagnola cattle" @default.
• W4283016952 cites W1980909067 @default.
• W4283016952 cites W1988634590 @default.
• W4283016952 cites W2032638929 @default.
• W4283016952 cites W2033835945 @default.
• W4283016952 cites W2043107286 @default.
• W4283016952 cites W2143950698 @default.
• W4283016952 cites W2811032550 @default.
• W4283016952 cites W3033356762 @default.
• W4283016952 cites W3203391806 @default.
• W4283016952 cites W3211376609 @default.
• W4283016952 doi "https://doi.org/10.1016/j.animal.2022.100569" @default.
• W4283016952 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35717834" @default.
• W4283016952 hasPublicationYear "2022" @default.
• W4283016952 type Work @default.
• W4283016952 citedByCount "1" @default.
• W4283016952 countsByYear W42830169522023 @default.
• W4283016952 crossrefType "journal-article" @default.
• W4283016952 hasAuthorship W4283016952A5022898522 @default.
• W4283016952 hasAuthorship W4283016952A5028488175 @default.
• W4283016952 hasAuthorship W4283016952A5047403471 @default.
• W4283016952 hasAuthorship W4283016952A5063839028 @default.
• W4283016952 hasAuthorship W4283016952A5088989647 @default.
• W4283016952 hasBestOaLocation W42830169521 @default.
• W4283016952 hasConcept C126322002 @default.
• W4283016952 hasConcept C2776482104 @default.
• W4283016952 hasConcept C2908647359 @default.
• W4283016952 hasConcept C54355233 @default.
• W4283016952 hasConcept C71924100 @default.
• W4283016952 hasConcept C86803240 @default.
• W4283016952 hasConcept C99454951 @default.
• W4283016952 hasConceptScore W4283016952C126322002 @default.
• W4283016952 hasConceptScore W4283016952C2776482104 @default.
• W4283016952 hasConceptScore W4283016952C2908647359 @default.
• W4283016952 hasConceptScore W4283016952C54355233 @default.
• W4283016952 hasConceptScore W4283016952C71924100 @default.
• W4283016952 hasConceptScore W4283016952C86803240 @default.
• W4283016952 hasConceptScore W4283016952C99454951 @default.
• W4283016952 hasIssue "7" @default.
• W4283016952 hasLocation W42830169521 @default.
• W4283016952 hasLocation W42830169522 @default.
• W4283016952 hasLocation W42830169523 @default.
• W4283016952 hasLocation W42830169524 @default.
• W4283016952 hasOpenAccess W4283016952 @default.
• W4283016952 hasPrimaryLocation W42830169521 @default.
• W4283016952 hasRelatedWork W1920751942 @default.
• W4283016952 hasRelatedWork W1991523530 @default.
• W4283016952 hasRelatedWork W2002128513 @default.
• W4283016952 hasRelatedWork W2020824267 @default.
• W4283016952 hasRelatedWork W2031436818 @default.
• W4283016952 hasRelatedWork W2057739827 @default.
• W4283016952 hasRelatedWork W2075354549 @default.
• W4283016952 hasRelatedWork W2088062465 @default.
• W4283016952 hasRelatedWork W2092874662 @default.
• W4283016952 hasRelatedWork W2140551111 @default.
• W4283016952 hasVolume "16" @default.
• W4283016952 isParatext "false" @default.
• W4283016952 isRetracted "false" @default.
• W4283016952 workType "article" @default.