We have taken advantage of the well-established oocyte host transfer technique to optimize a method for CRISPR editing of Xenopus that provides an efficient non-mosaic targeted insertion of small DNA fragment through homology-directed repair mechanism.
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Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome.
Am J Med Genet C Semin Med Genet
January 2025
Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.
Determining karyotype-phenotype correlations for individuals with Turner syndrome ("TS individuals") is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X ("ring X") to 50 non-mosaic 45,X, and 27 mosaic 45,X/46,XX ("mosaic 45,X") individuals.
View Article and Find Full Text PDFKaryotype and phenotype association in Turner syndrome with non-mosaic X chromosome structural rearrangements: Systematic review.
Congenit Anom (Kyoto)
January 2025
Department of Obstetrics and Gynecology, Yokohama City University School of Medicine, Yokohama, Japan.
Article Synopsis
- Turner syndrome is a genetic disorder caused by the deletion of one X chromosome, leading to diverse karyotypes and phenotypes, but predicting phenotypes remains challenging due to mosaicism.
- A study included 487 Turner women with non-mosaic X chromosome structural rearrangements and found prevalence rates of short stature (72.4%) and ovarian dysfunction (78.8%) linked to specific deletion groups.
- Understanding the specific X chromosome breakpoints is crucial for managing Turner syndrome, particularly for predicting and addressing ovarian dysfunction and future fertility issues.
Emergence and evolution of mosaic and alleles in a core genogroup that was historically susceptible to extended spectrum cephalosporins.
Front Microbiol
October 2024
Division of STD Prevention, Centers for Disease Control and Prevention, Atlanta, GA, United States.
Article Synopsis
- The emergence of the FC428 clone of Neisseria gonorrhoeae (Ng) has led to concerns about antimicrobial resistance, with ceftriaxone being the last remaining effective treatment option due to the development of high-level resistance associated with a newly identified allele.
- Analysis of 2,104 genomes showed that three isolates with high-level ceftriaxone resistance grouped in a lineage that includes strains primarily from North America and Southeast Asia, indicating significant global spread and interconnectedness of resistant strains.
- The study identifies potential recombination events that could contribute to the evolution of resistant strains, highlighting the complex nature of antimicrobial resistance and the need for ongoing surveillance and research.
Re-Examination of PGT-A Detected Genetic Pathology in Compartments of Human Blastocysts: A Series of 23 Cases.
J Clin Med
June 2024
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line 3, 199034 Saint Petersburg, Russia.
Article Synopsis
- Preimplantation genetic testing for aneuploidies (PGT-A) is commonly used in assisted reproduction, but surprisingly, it doesn't significantly enhance clinical outcomes due to discrepancies between PGT-A results and the actual chromosomal makeup of blastocysts.
- A study analyzed 23 blastocysts from 17 couples, where PGT-A revealed chromosomal imbalances, by re-biopsying the trophectoderm (TE) and separately examining the inner cell mass (ICM).
- Out of the 23 cases, only 8 had consistent PGT-A results with re-biopsy findings, while 4 showed partial discordance, indicating the complexity of accurately assessing chromosomal status in embryos.
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