Publications by authors named "Carolina Gracia-Diaz"
Article Synopsis
- Genetic variants in the EZH1 chromatin modifier are linked to both dominant and recessive neurodevelopmental disorders in 19 individuals, highlighting its role in disease etiology.
- EZH1 impacts histone modification and is essential for the differentiation of neural progenitor cells, with recessive variants causing loss of function and dominant variants resulting in gain of function due to mutations.
- The findings underscore EZH1's crucial role in neurogenesis and offer a molecular basis for diagnosing certain neurodevelopmental disorders that were previously unclassified.
The KOLF2.1J iPSC line was recently proposed as a reference iPSC to promote the standardization of research studies in the stem cell field. Due to overall good performance differentiating to neural cell lineages, high gene editing efficiency, and absence of genetic variants associated to neurological disorders KOLF2.
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