623 results found
    1. Developmental Biology
    2. 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. 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. Genetics and Genomics
    2. Medicine

    Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome

    Jeanne L Theis et al.
    Hypoplastic left heart syndrome is reflected by reduced proliferative capacity of patient iPSC-derived cardiomyocytes and requires the activity of LRP2/APOB proteins, likely in conjunction with SHH and WNT signaling pathways.
    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. Cell Biology
    2. Neuroscience

    Quantitative mapping of transcriptome and proteome dynamics during polarization of human iPSC-derived neurons

    Feline W Lindhout et al.
    A dynamic qualitative and quantitative map of human iPSC-derived neuronal stem cells transitioning into polarized neurons with the identification and characterization of a previously unrecognized axon developmental stage.
    1. Neuroscience
    2. Stem Cells and Regenerative Medicine

    16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development

    Julien G Roth et al.
    A model of in vitro human corticogenesis identifies alterations in gene expression caused by loss of 16p11.2 CNV genes in hiPSC-derived progenitor cells.
    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. 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. Chromosomes and Gene Expression

    A promoter interaction map for cardiovascular disease genetics

    Lindsey E Montefiori et al.
    Promoter capture Hi-C in human iPSCs and iPSC-derived cardiomyocytes provides a platform to interrogate gene-regulatory dynamics of cardiomyocyte differentiation and directly links thousands of cardiovascular disease risk loci to hundreds of distal target genes.

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