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Several variants on chromosome 10 are associated with coarse hair diameter in Dazu black goats (Capra hircus).
Anim Genet
February 2025
College of Animal Science and Technology, Southwest University, Chongqing, China.
Goats typically have double coats, with the outermost coarse hairs providing protection against mechanical and radiation damage. While much attention has been paid to cashmere due to its status as a high-end textile material, there is limited information available on coarse hair. This study aimed to identify genomic variants, such as single nucleotide polymorphisms (SNPs) and insertion/deletions (indels), associated with coarse hair diameter using a genome-wide association study (GWAS).
View Article and Find Full Text PDFWilliams-Beuren Syndrome and Epilepsy: A Retrospective Analysis of 589 Patients.
J Child Neurol
January 2025
Department of Neuropediatrics, University Hospital of Schleswig Holstein, Kiel, Germany.
Although many reports have described the characteristics of Williams-Beuren syndrome, few specifically analyzed epilepsy in patients with Williams-Beuren syndrome. In this retrospective study, we map the prevalence, types, and prognosis of epileptic seizures in a large cohort of 589 patients with Williams-Beuren syndrome, as well as associations between deletions of the membrane-associated guanylate kinase inverted-2-gene (2 gene), which is associated with infantile spasms (IS), and epilepsy in patients with Williams-Beuren syndrome.Our findings indicate that the incidence of epilepsy in patients with Williams-Beuren syndrome is approximately 1.
View Article and Find Full Text PDFGeneration of live mice from haploid ESCs with germline-DMR deletions or switch.
Cell Discov
January 2025
Key Laboratory of Multi-Cell Systems, Shanghai Key Laboratory of Molecular Andrology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Genomic imprinting is required for sexual reproduction and embryonic development of mammals, in which, differentially methylated regions (DMRs) regulate the parent-specific monoallelic expression of imprinted genes. Numerous studies on imprinted genes have highlighted their critical roles in development. However, what imprinting network is essential for development is still unclear.
View Article and Find Full Text PDFExpression of an Efficient Selection Marker Out of a Duplicated Site in the ITRs of a Modified Vaccinia Virus Ankara (MVA).
Vaccines (Basel)
December 2024
ProBioGen AG, 13086 Berlin, Germany.
: Poxviruses are large DNA viruses that replicate in the host cytoplasm without a nuclear phase. As vaccine vectors, they can package and express large recombinant cassettes from different positions of their genomic core region. We present a comparison between wildtype modified vaccinia Ankara (MVA) and isolate CR19, which has significantly expanded inverted terminal repeats (ITRs).
View Article and Find Full Text PDFStructural Variation Interpretation in the Genome Sequencing Era: Lessons from Cytogenetics.
Clin Chem
January 2025
Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, United States.
Background: Structural variation (SV), defined as balanced and unbalanced chromosomal rearrangements >1 kb, is a major contributor to germline and neoplastic disease. Large variants have historically been evaluated by chromosome analysis and now are commonly recognized by chromosomal microarray analysis (CMA). The increasing application of genome sequencing (GS) in the clinic and the relatively high incidence of chromosomal abnormalities in sick newborns and children highlights the need for accurate SV interpretation and reporting.
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