518 results found
    1. Genetics and Genomics
    2. Neuroscience

    CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks

    Eric Deneault et al.
    Autism-associated iPSC-derived neurons mutant in CNTN5 or EHMT2 are hyperactive.
    1. Evolutionary Biology

    A generally conserved response to hypoxia in iPSC-derived cardiomyocytes from humans and chimpanzees

    Michelle C Ward, Yoav Gilad
    Evolutionarily conserved hypoxic stress response genes are depleted for association with expression quantitative trait loci.
    1. Stem Cells and Regenerative Medicine

    Unique molecular events during reprogramming of human somatic cells to induced pluripotent stem cells (iPSCs) at naïve state

    Yixuan Wang et al.
    During reprogramming of human fibroblasts to naïve iPSCs there is transient reactivation of transcripts with the characteristics of 8-cell-stage-embryos.
    1. Stem Cells and Regenerative Medicine
    2. Genetics and Genomics

    A panel of induced pluripotent stem cells from chimpanzees: a resource for comparative functional genomics

    Irene Gallego Romero et al.
    A panel of chimpanzee induced pluripotent stem cells (iPSCs) will help realise the potential of iPSCs in primate studies, and in combination with genomic technologies, transform studies of comparative evolution.
    1. Genetics and Genomics

    Determining the genetic basis of anthracycline-cardiotoxicity by molecular response QTL mapping in induced cardiomyocytes

    David A Knowles et al.
    Genetic variants that modulate transcriptomic response to doxorubicin in human iPSC-derived cardiomyocytes are predictive of cardiac damage and in vivo sensitivity to anthracycline cardiotoxicity.
    1. Stem Cells and Regenerative Medicine

    Insulin mutations impair beta-cell development in a patient-derived iPSC model of neonatal diabetes

    Diego Balboa et al.
    Mutations causing proinsulin misfolding trigger unfolded protein response and lead to impaired proliferation and reduced mTORC1 signalling of developing beta-cells in a patient-derived induced pluripotent stem cell disease model.
    1. Developmental Biology
    2. Human Biology and Medicine

    CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations

    Hironobu Okuno et al.
    Neural crest cells differentiated from patient-derived cells with mutations in the chromatin remodeler CHD7 show defective delamination, migration and motility in vitro, and defective migration in chick embryos.
    1. Human Biology and Medicine
    2. Stem Cells and Regenerative Medicine

    Persistent epigenetic memory impedes rescue of the telomeric phenotype in human ICF iPSCs following DNMT3B correction

    Shir Toubiana et al.
    Correction of the DNA methyltransferase 3B gene in ICF1 syndrome fails to rescue the abnormal DNA hypomethylation at subtelomeric regions due to accompanied epigenetic abnormalities in these regions.
    1. Evolutionary Biology

    Silencing of transposable elements may not be a major driver of regulatory evolution in primate iPSCs

    Michelle C Ward et al.
    Human and chimpanzee-induced pluripotent stem cells show limited species-specificity in transposable element silencing.
    1. Developmental Biology
    2. Chromosomes and Gene Expression

    Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa

    Budd A Tucker et al.
    Skin cells from a patient with retinitis pigmentosa have been used to generate induced pluripotent stem cells, which could potentially form the basis of new treatments for this disease.

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