1,505 results found
    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, Kristin L Muench ... Theo D Palmer
    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. Developmental Biology
    2. Medicine

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

    Hironobu Okuno, Francois Renault Mihara ... Hideyuki Okano
    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. Cell Biology
    2. Neuroscience

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

    Feline W Lindhout, Robbelien Kooistra ... Casper C Hoogenraad
    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. Cell Biology
    2. Stem Cells and Regenerative Medicine

    Differential chondrogenic differentiation between iPSC derived from healthy and OA cartilage is associated with changes in epigenetic regulation and metabolic transcriptomic signatures

    Nazir M Khan, Martha Elena Diaz-Hernandez ... Hicham Drissi
    The iPSCs derived from OA cartilage showed memory of disease which affect its chondrogenic potential and regulation at epigenetic and metabolic level may be used to control the regenerative potential of these iPSCs.
    1. Genetics and Genomics
    2. Neuroscience

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

    Eric Deneault, Muhammad Faheem ... Stephen W Scherer
    Autism-associated iPSC-derived neurons mutant in CNTN5 or EHMT2 are hyperactive.
    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, Chengchen Zhao ... Shaorong Gao
    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

    Skeletal dysplasia-causing TRPV4 mutations suppress the hypertrophic differentiation of human iPSC-derived chondrocytes

    Amanda R Dicks, Grigory I Maksaev ... Farshid Guilak
    Chondrocytes derived from induced pluripotent stem cells with the dysplasia-causing TRPV4 mutations, V620I and T89I mutation, were resistant to BMP4-induced hypertrophy, suggesting a mechanism underlying the effects of TRPV4 dysfunction on the severity of skeletal dysplasia.
    1. Stem Cells and Regenerative Medicine

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

    Shir Toubiana, Miriam Gagliardi ... Sara Selig
    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. Genetics and Genomics
    2. Medicine

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

    Jeanne L Theis, Georg Vogler ... Rolf Bodmer
    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. 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.

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