Publications by authors named "Y Plotsky"
Ververi-Brady syndrome (VBS), first reported in 2018, is characterized by intellectual disability, speech delay, and mild dysmorphic facial features. VBS has been linked to de novo loss-of-function variants in the glutamine-rich protein 1 (QRICH1) on chromosome 3p21 and was reported until lately in only five individuals. Four additional cases have just been described substantiating the notion that children with VBS are mildly dysmorphic, mildly to moderately intellectually disabled, have linear growth shortage, are picky eaters, and have notable attention and social behavioral deficits.
View Article and Find Full Text PDFArticle Synopsis
- - The study explores the prevalence of the nt230(del4) MDR1 mutation, which affects sensitivity to certain veterinary drugs, particularly in Rough Collies and other breeds, with data collected from 1,416 dogs in Israel.
- - Frequencies of the mutation in Israeli breeds like Australian Shepherds and German Shepherds align with global figures, while Border Collies show higher rates and Rough Collies lower rates compared to other regions.
- - The findings highlight the need for careful treatment and breeding practices among affected dog breeds and their crosses in Israel, indicating that the true proportion of affected dogs might be understated due to selective sampling by veterinarians.
The quantity of PCR products that are simultaneously amplified from two different loci in a duplex amplification (DA) are significantly lower for one of the loci, as compared to identical PCR amplification in separate single-band amplifications (SBA). This difference in amplification probably occurs already after the second cycle of amplification. To further analyze this phenomenon, we tested different reaction conditions, including annealing times, a wide range of temperatures, various quantities of the template, several nucleotide concentrations, different amounts of TaqI DNA Polymerase, number of amplification cycles and various amounts of primers and primers ratio.
View Article and Find Full Text PDFThis study utilized DNA fingerprints and crosses of two genetically distinct lines of layer-type chickens to identify genetic markers linked to quantitative trait loci (QTL). In phase I, backcross (BC1) hens were separately ranked for each of eight traits and then blood pools were produced in groups along each phenotypic distribution. The DNA was isolated from the blood pools and used in a gradient analysis to screen for DNA fingerprint bands that exhibited intensity gradients associated with the phenotypic traits.
View Article and Find Full Text PDF