Philippe Emmanuel Gautier

This study identifies ATRX deficiency as a driver of aberrant type I interferon signaling via cGAS-dependent transcriptional dysregulation in patients with cerebral white matter disease.

The paper shows that PRC1 and PRC2 are independently recruited to hypomethylated pericentromeric heterochromatin in mESCs without requiring specific mediators.

This paper identifies JMJD5-ISY1-PRMT6 as a pathway regulating metabolism by hydroxylating ISY1 to inhibit PRMT6, showing its role in liver cancer and potential as a therapeutic target.

This study shows that proteostatic failure in ER-phagy, driven by Kras, leads to protein aggregates that prime acinar-ductal metaplasia and pancreatic cancer.

This study shows that genetic mutations in PDAC affect blood biomarker profiles, suggesting genotype-specific biomarkers are needed for early detection.

This study shows that crispant founder mice can be used for phenotypic assessment despite genetic mosaicism, as observed null phenotypes were present in up to 100% of founders.

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

This study shows that DNMT3B PWWP mutations cause hypermethylation of heterochromatin marked by H3K9me3, disrupting DNA methylation homeostasis and contributing to ICF syndrome, cancer, and aging.

This study identifies a critical genomic region on the X chromosome linked to anophthalmia in mice but finds no clear causative mutation, suggesting regulatory changes may underlie the phenotype.

The paper identifies EZH2's interaction with MEG3 to regulate integrin signaling and endothelial cell function through epigenetic mechanisms.

This paper creates a mouse model of Brittle Cornea Syndrome to study the molecular mechanisms of corneal thinning and its pathogenic effects.

This study shows that a DISC1 mutation linked to mental illness disrupts NMDAR dynamics and synaptic function in neurons, affecting excitatory synapses and vesicle dynamics.