Genetic Syndromes and Imprinting
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Latest in Genetic Syndromes and Imprinting
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OCRL deficiency in Lowe syndrome causes mitochondrial dysfunction, impaired cilia-related Sonic Hedgehog signaling, and disrupted neuronal differentiation across multiple models.
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Dual-receptor knockdown of insulin and IGF1 receptors in podocytes causes severe kidney disease and cell loss, highlighting their critical role in renal health.
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GZF1 and ZFP57 reciprocally bind to safeguard Dlk1-Dio3 imprinting, preventing methylation changes that threaten parent-specific gene expression during development.
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Pathogenic AGO2 variants cause a spectrum of neurodevelopmental and systemic features, with 97% of individuals showing delayed speech, intellectual disability, and motor delay.
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A novel ANOS1 c.1879T>C variant was identified as likely pathogenic in a large Chinese Kallmann syndrome family, fully co-segregating with the disease in tested members.
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