Salvatore Spicuglia

Widespread cryptic RAG-mediated recombination in developing T lymphocytes

The paper identifies widespread cryptic RAG-mediated recombination events in mouse thymocytes beyond known antigen receptor loci, showing these events are not explained by local genetic or epigenetic features.

Epromoter 3D interaction-associated regulation in T-acute Lymphoblastic Leukemia

This study identifies Epromoters involved in 3D promoter-promoter interactions that regulate gene expression and are critical for T-ALL cell survival.

PREMATURE BIRTH AND CESAREAN SECTION AFFECT NEONATAL CD4+ T CELL GENE EXPRESSION AND CELLULAR FUNCTION

The paper examines how premature birth and cesarean section affect neonatal CD4+ T cell gene expression and function, finding that vaginal delivery promotes immune activation while cesarean section restrains it.

Identification and Functional Characterization of Regulatory Variants in DPP9 Associated with COVID-19 Severity

The paper identifies and functionally characterizes regulatory variants in DPP9 associated with severe COVID-19 by analyzing genetic risk factors and their impact on gene expression and immune cell function.

An enhancer-centric approach applied to human immune system epigenomes revealed the association of macrophage enhancers with cardiovascular disease

The paper identifies associations between macrophage enhancers and cardiovascular disease variants using epigenomic data from immune cells.

Exonic enhancers are a widespread class of dual-function regulatory elements

The paper identifies exonic enhancers as dual-function regulatory elements that influence gene expression and are associated with disease and evolution.

Epromoters bind key stress-related transcription factors to regulate clusters of stress response genes

The paper identifies Epromoters as cis-regulatory elements that regulate clusters of stress-response genes by recruiting key transcription factors, showing their role across different stress models.

Harnessing ALDH1A2 vulnerability in T-cell acute lymphoblastic leukemia

This study identifies ALDH1A2 as a therapeutic target in T-ALL, showing its essential role in leukemic cell survival and demonstrating potent anti-leukemic activity with Dimate inhibition.

Unraveling a novel dual-function regulatory element showing epistatic interaction with a variant that escapes genome-wide association studies.

The paper identifies a dual-function regulatory element and a malaria risk variant that interact epistatically to influence T-cell activation and severe malaria susceptibility.

A workflow combining single-cell CRISPRi screening and a Sparse supervised autoencoder neural network to detect subtle transcriptomic perturbations induced by lncRNA Knock-Down

The paper develops a Sparse supervised autoencoder to detect subtle transcriptomic changes from CRISPRi screens of lncRNAs in lung cancer cells under hypoxia.

Architecture and evolutionary conservation of Xenopus tropicalis osteoblast-specific regulatory regions shed light on bone diseases and early skeletal evolution

The paper identifies osteoblast-specific regulatory regions in Xenopus tropicalis and shows their conservation with human enhancers, linking them to skeletal diseases and evolutionary origins of bone.

Epigenomic translocation of H3K4me3 broad domains over oncogenes following hijacking of super-enhancers

The paper identifies H3K4me3 broad domains formed by super-enhancer translocations in B-cell and T-cell malignancies, linking them to oncogene activation.

Identification of ATP2B4 regulatory element containing functional genetic variants associated with severe malaria

The paper identifies functional genetic variants in the ATP2B4 regulatory region associated with severe malaria and demonstrates their impact on gene expression and calcium homeostasis.