Publications by authors named "Ivonne Zamorano"
KDM4B (MIM*609765, NM_015015.3, formerly JMJD2B) encodes a histone demethylase and regulates gene expression via demethylation, mainly of H3K9 tri-methylation. Heterozygous KDM4B loss-of-function variants cause autosomal dominant intellectual developmental disorder 65 (MIM#619320), which is characterized by global developmental delay, intellectual disability, language and gross motor delays, structural brain anomalies, characteristic facial features, and clinodactyly.
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- Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder characterized by the abnormal expansion of GCN triplets, affecting muscle function mainly in the tongue and other areas.
- This study analyzed MRI and CT-scan data from 168 genetically confirmed OPMD patients to create heatmaps that illustrate muscle involvement and correlate these findings with genetic and clinical data.
- Results showed that fatty replacement in muscles was present in 96.7% of symptomatic patients, and the findings provided a distinctive pattern for diagnosing OPMD, aiding in understanding the disease's progression and supporting clinical trials.