منابع مشابه
Establishment of LIF-Dependent Human iPS Cells Closely Related to Basic FGF-Dependent Authentic iPS Cells
Human induced pluripotent stem cells (iPSCs) can be divided into a leukemia inhibitory factor (LIF)-dependent naïve type and a basic fibroblast growth factor (bFGF)-dependent primed type. Although the former are more undifferentiated than the latter, they require signal transduction inhibitors and sustained expression of the transgenes used for iPSC production. We used a transcriptionally enhan...
متن کاملCyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting females almost exclusively and is characterized by a wide spectrum of clinical manifestations. Mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene have been found in up to 95% of classical RTT cases and a lesser proportion of atypical cases. Recently, mutations in another X-linked gene, CDKL5 (cyclin-dependent...
متن کاملCDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.
X-linked cyclin-dependent kinase-like 5 (CDKL5 or STK9) has recently been implicated in atypical Rett and X-linked West syndromes, severe neurological disorders associated with mental retardation, loss of communication and motor skills and infantile spasms and seizures in predominantly females. Besides CDKL5, these disease phenotypes are also linked to mutations in the MECP2 and ARX genes. Here...
متن کاملAging in iPS cells
(iPSC) technology [1] holds the promise of recreating disease in vitro in a patient-specific manner. There has been considerable success in using iPSC models to study early-onset genetic diseases, such as our own work on familial dysautonomia [2] or primary herpes simplex encephalitis [3]. The modeling of late-onset diseases in iPSC-derived lineages has been more challenging and such studies of...
متن کاملiPs cells without antibiotic selection
nature methods | VOL.11 NO.3 | MARCH 2014 | 291 nucleases should be replaced with nickases to avoid off-target mutations13,14. However, using nickases to improve fidelity also lowers efficiency, which makes mutants increasingly rare13,14. Therefore, genome engineering is faced with a logistical challenge: high-fidelity precise mutagenesis results in rarer mutagenic events, but isolating a rare ...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2011
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2011.131