about
Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Crooked Tail Syndrome in Belgian Blue CattleA novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newbornsHuman-ovine comparative sequencing of a 250-kb imprinted domain encompassing the callipyge (clpg) locus and identification of six imprinted transcripts: DLK1, DAT, GTL2, PEG11, antiPEG11, and MEG8Ectopic Expression of Retrotransposon-Derived PEG11/RTL1 Contributes to the Callipyge Muscular HypertrophyA 660-Kb deletion with antagonistic effects on fertility and milk production segregates at high frequency in Nordic Red cattle: additional evidence for the common occurrence of balancing selection in livestockA pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy familyKCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrumA mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheepPatrocles: a database of polymorphic miRNA-mediated gene regulation in vertebratesDemonstrating polymorphic miRNA-mediated gene regulation in vivo: application to the g+6223G->A mutation of Texel sheep.A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory response.Fast homozygosity mapping and identification of a zebrafish ENU-induced mutation by whole-genome sequencing.Selection in action: dissecting the molecular underpinnings of the increasing muscle mass of Belgian Blue CattleAssessing the effect of the CLPG mutation on the microRNA catalog of skeletal muscle using high-throughput sequencing.A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina.The callipyge mutation enhances bidirectional long-range DLK1-GTL2 intergenic transcription in cis.Highly effective SNP-based association mapping and management of recessive defects in livestock.The callipyge locus: evidence for the trans interaction of reciprocally imprinted genes.Experimental evaluation does not reveal a direct effect of microRNA from the callipyge locus on DLK1 expressionGenome-wide next-generation DNA and RNA sequencing reveals a mutation that perturbs splicing of the phosphatidylinositol glycan anchor biosynthesis class H gene (PIGH) and causes arthrogryposis in Belgian Blue cattleThe callipyge mutation and other genes that affect muscle hypertrophy in sheepGenetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle.Polymorphic miRNA-mediated gene regulation: contribution to phenotypic variation and disease.Coding and noncoding variants in HFM1, MLH3, MSH4, MSH5, RNF212, and RNF212B affect recombination rate in cattleA missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle.NGS-based reverse genetic screen for common embryonic lethal mutations compromising fertility in livestock.Comparative sequence analysis of the imprinted Dlk1-Gtl2 locus in three mammalian species reveals highly conserved genomic elements and refines comparison with the Igf2-H19 region.A stop-gain in the laminin, alpha 3 gene causes recessive junctional epidermolysis bullosa in Belgian Blue cattle.Detection of copy number variants in the horse genome and examination of their association with recurrent laryngeal neuropathy.Reverse genetic screen for loss-of-function mutations uncovers a frameshifting deletion in the melanophilin gene accountable for a distinctive coat color in Belgian Blue cattle.Results of a haplotype-based GWAS for recurrent laryngeal neuropathy in the horse.Ancestral haplotype-based association mapping with generalized linear mixed models accounting for stratification.BEGAIN: a novel imprinted gene that generates paternally expressed transcripts in a tissue- and promoter-specific manner in sheep.Allelic heterogeneity of Crooked Tail Syndrome: result of balancing selection?Serial translocation by means of circular intermediates underlies colour sidedness in cattle.Towards interbreed IBD fine mapping of the mh locus: double-muscling in the Asturiana de los Valles breed involves the same locus as in the Belgian Blue cattle breed.The mh gene causing double-muscling in cattle maps to bovine Chromosome 2.Cholesterol deficiency causing calf illthrift and diarrhoea.Ectopic Expression of DLK1 Protein in Skeletal Muscle of Padumnal Heterozygotes Causes the Callipyge PhenotypeCis- and Trans-Effects Underlying Polar Overdominance at the Callipyge Locus
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Carole Charlier
@ast
Carole Charlier
@en
Carole Charlier
@es
Carole Charlier
@nl
Carole Charlier
@sl
type
label
Carole Charlier
@ast
Carole Charlier
@en
Carole Charlier
@es
Carole Charlier
@nl
Carole Charlier
@sl
prefLabel
Carole Charlier
@ast
Carole Charlier
@en
Carole Charlier
@es
Carole Charlier
@nl
Carole Charlier
@sl
P106
P21
P31
P496
0000-0002-9694-094X