Genetic Syndromes and Imprinting

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Persistent neuronal stress signalling underlies Angelman syndrome phenotypes.
Nature · 21 Oct 2026 · Journal Article
Loss of UBE3A causes increased ASNS protein levels, activating stress signalling and reducing neuronal protein synthesis in Angelman syndrome models.
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https://jclub.com.au/a/42907508
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Subindividual variation in plants: branch-level phenotypic and epigenetic divergence of pollen grains is correlated with the epigenetic divergence of adjacent leaves
bioRxiv · 16 Oct 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.06.13.732073
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Is genome-wide epigenetic reprogramming a eutherian innovation?
Nature Reviews Genetics · 5 Oct 2026 · Journal Article
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https://jclub.com.au/a/42834119
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Reelin Deficiency Alters the Directional Orientation, Apical Localization and Length of Primary Cilia in Principal Neurons in the Cerebral Cortex
bioRxiv · 5 Oct 2026 · Preprint
Reelin deficiency causes persistent disruptions in primary cilia orientation, localization, and length in principal neurons of the cerebral cortex, especially in laminated regions.
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https://jclub.com.au/a/10.1101/2025.08.24.672028
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Microchimerism in the human brain, quantitative assessment and single nuclei profiling establish cell types and diversity
bioRxiv · 1 Oct 2026 · Preprint
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Sperm AluY Epimutations in Male Partners of Couples with Unexplained Recurrent Pregnancy Loss
bioRxiv · 25 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.09.24.753615
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The Female Side of Autism: Sexual Dichotomies impacting the Helsmoortel-Van der Aa syndrome pathology.
bioRxiv · 25 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.09.20.752986
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PANDA: Phased Analysis of DNA Amplicons for Read-Level Methylation Profiling and Heterogeneity Assessment
bioRxiv · 23 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.04.01.715790
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Defective neuronal differentiation in Lowe syndrome is associated with mitochondrial dysfunction and impaired cilia-related Sonic Hedgehog signaling.
eLife · 18 Sept 2026 · Journal Article
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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Distinct genetic architectures of mRNA expression and splicing QTL in the Diversity Outbred mouse population
bioRxiv · 15 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.03.06.710203
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IAP retrotransposons contribute to the transcriptional diversity of the murine placenta
bioRxiv · 15 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.01.27.702056
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The insulin/IGF axis is critically important for controlling gene transcription in the podocyte.
eLife · 4 Sept 2026 · Journal Article
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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Regulatory mechanisms of maternal imprinting at the murine Dlk1-Dio3 domain.
Nature Communications · 2 Sept 2026 · Journal Article
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https://jclub.com.au/a/42686764
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Reciprocal, methylation-dependent binding of Zfp57 and Gzf1 safeguards Dlk1-Dio3 imprinting during developmental reprogramming.
Nature Communications · 2 Sept 2026 · Journal Article
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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The discovery of gene imprinting.
Nature Reviews Genetics · 1 Sept 2026 · Journal Article
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