October 2017
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8 Reads
GWAS PLINK file: plink.ped. (PED)
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Publications (21)
October 2017
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10 Reads
Chi square analysis of the proportion of affected offspring in the early and later canine XX DSD model pedigree. (TIF)
October 2017
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23 Reads
Distribution of 754 stringent-DE genes across 10MB intervals of the CanFam3 genome. (PDF)
October 2017
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12 Reads
Dogs tested by MLPA to screen for CNVs in haplotype Region 3 and the canine RevSex ortholog. (XLSX)
October 2017
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14 Reads
GWAS phenotype file: pheno.txt. (TXT)
October 2017
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10 Reads
Genomic sequence flanking the insertion associated with XX DSD (CFA9:6048201–6048202; CanFam3.1). The guanine insertion is in bold type and enclosed by square brackets. Curved brackets in bold type enclose the SNP array probe sequence for this locus. PCR primers used to genotype this locus (6048201_F1 and 6048201_R1) are underlined. (TIF)
October 2017
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12 Reads
GWAS Quantile-Quantile Plot of the p-values used to assess GWAS model fit and significance. The plot shows that most of the genotypes follow the expected null distribution and marginally significant p-values at the extreme (corresponding to a region of CFA9). (TIF)
October 2017
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14 Reads
Genotypes at the CFA9:6048201 locus for all pet dogs tested in the custom canine array of WGS variants. (XLSX)
October 2017
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8 Reads
List of 244 CFA9 variants identified by WGS of 3 dogs from the XX DSD model pedigree and 1 female control. (XLSX)
October 2017
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7 Reads
Chi square analysis of the proportion of mild and severe phenotypes in affected offspring in the early and later canine XX DSD model pedigree. (TIF)
Citations (3)
... 14 Haploinsufficiency has also been considered, but so far not confirmed. 25 Numerous studies have attempted to understand the mechanism of disease-causing NR5A1/SF-1 variants using various in vitro tools and bioinformatic approaches 14,[26][27][28][29][30] ; however, the reason for the lack of genotype-phenotype correlation remains unclear. Therefore, it remains a challenge to anticipate how different NR5A1/SF-1 variants influence the expression of SF-1 target genes and the levels of proteins, regulators, and modulators in the complex networks of adrenal and gonadal development, as well as steroidogenesis, 1,15 leading to the ultimate phenotype. ...
- Citing Article
- Full-text available
October 2017
... The 5.2-kb region of overlap has a core gonadal enhancer for SOX9 implicated in both 46,XX and 46,XY DSD (Gonen et al., 2017). eSR-B was identified after four 46,XX SRY-negative sex reversal DSD patients presented with duplications in the upstream regulatory region of SOX9 known as RevSex (Benko et al., 2011;Hyon et al., 2015;Ohnesorg et al., 2017;Vetro et al., 2011;Xiao et al., 2013). eSR-B is the RevSex fragment showing overlap amongst these patients and with a highly conserved SOX9 binding motif (Gonen et al., 2017). ...
- Citing Article
March 2017
... In contrast, measurements in PBL usually include analysis of DNA damage repair foci (γH2AX) or gene expression changes. Thus, no stimulation of mitosis is required in these bioassays and the dose assessment can be performed within 12 h post exposure (Ivashkevich et al. 2017). ...
- Citing Article
- Full-text available
January 2017
Journal of Physics Conference Series
