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Showing 1–13 of 13 results
Advanced filters: Author: Amy Koski Clear advanced filters

  • Researchers induced ploidy reduction in human oocytes generated by somatic cell nuclear transfer, enabling fertilization and embryo development with integrated somatic and sperm chromosomes, highlighting a proof-of-concept for in vitro gametogenesis.

    • Nuria Marti Gutierrez
    • Aleksei Mikhalchenko
    • Shoukhrat Mitalipov
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-14

  • DNA repair in response to DSBs in the preimplantation embryo is hard to analyze. Here the authors show that over 25% of pre-existing heterozygous loci in control single blastomere samples appeared as homozygous after whole genome amplification, therefore, they validated gene editing seen in human embryos in ESCs.

    • Dan Liang
    • Aleksei Mikhalchenko
    • Shoukhrat Mitalipov
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-15

  • CRISPR–Cas9 genome editing is used to induce a DNA repair response and correct a disease-causing heterozygous mutation in human embryos with reduced mosaicism and preferential repair using the wild-type copy of the gene.

    • Hong Ma
    • Nuria Marti-Gutierrez
    • Shoukhrat Mitalipov
    Research
    Nature
    Volume: 548, P: 413-419

  • The mitochondrial transcription factor A is excluded from the mitochondria in spermatozoa by virtue of phosphorylation of the mitochondrial presequence. This is associated with transport to the nucleus and loss of mitochondrial DNA (mtDNA) from the mitochondria, providing a mechanistic basis for uniparental inheritance of mtDNA in humans.

    • William Lee
    • Angelica Zamudio-Ochoa
    • Dmitry Temiakov
    Research
    Nature Genetics
    Volume: 55, P: 1632-1639

    • Hong Ma
    • Nuria Marti-Gutierrez
    • Shoukhrat Mitalipov
    Research
    Nature
    Volume: 560, P: E10-E23

  • Analysis of mitochondrial replacement therapy shows, even with efficient mutant mitochondrial DNA replacement and maintenance in embryonic stem cells, a gradual loss of donor mitochondrial DNA in some lines owing to a polymorphism in the D-loop, potentially causing preferential replication of specific mitochondrial DNA haplotypes.

    • Eunju Kang
    • Jun Wu
    • Shoukhrat Mitalipov
    Research
    Nature
    Volume: 540, P: 270-275

  • Mutations in mitochondrial (mt)DNA are associated with severe disorders for which treatment is currently limited; this study shows that mtDNA mutations can be genetically corrected and normal metabolic function restored in cells derived from patients with mtDNA disease and reprogrammed to pluripotency through factor-mediated reprogramming or via a somatic cell nuclear transfer approach.

    • Hong Ma
    • Clifford D. L. Folmes
    • Shoukhrat Mitalipov
    Research
    Nature
    Volume: 524, P: 234-238

  • Yeonmi Lee, Aysha Trout, Nuria Marti-Guiterrez et al. examine different aspects of somatic cell haploidization in mouse enucleated oocytes. Their results provide further insight into generating oocytes carrying somatic genomes.

    • Yeonmi Lee
    • Aysha Trout
    • Eunju Kang
    ResearchOpen Access
    Communications Biology
    Volume: 5, P: 1-15

  • In an inter-laboratory study, the authors compare the accuracy and performance of three optical density calibration protocols (colloidal silica, serial dilution of silica microspheres, and colony-forming unit (CFU) assay). They demonstrate that serial dilution of silica microspheres is the best of these tested protocols, allowing precise and robust calibration that is easily assessed for quality control and can also evaluate the effective linear range of an instrument.

    • Jacob Beal
    • Natalie G. Farny
    • Jiajie Zhou
    ResearchOpen Access
    Communications Biology
    Volume: 3, P: 1-29