Anti Proliferative and Pro Apoptotic Effects of Flavonoid Quercetin Are Mediated by CB1 Receptor in Human Colon Cancer Cell Lines

Maria Grazia Refolo, Rosalba D’Alessandro, Natascia Malerba, +6

Journal of Cellular Physiology

Molecular PharmacologyFood Bioactive CompoundChemoprevention StrategyMedicinePharmacology +13

Dosage analysis of the 7q11.23 Williams region identifies <i>BAZ1B</i> as a major human gene patterning the modern human face and underlying self-domestication

Matteo Zanella, Alessandro Vitriolo, Alejandro Andirkó, +13

Science Advances

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

Elisabeth M. Lodder, Pasquelena De Nittis, Charlotte D. Koopman, +30

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsCognitive DisabilityGenetic Epidemiology +6

Dissecting KMT2D missense mutations in Kabuki syndrome patients

Dario Cocciadiferro, Bartolomeo Augello, Pasquelena De Nittis, +10

Human Molecular Genetics

Kmt2d Missense MutationsDevelopmental BiologyMendelian DisorderGenetic DisorderMedicine +9

TRIM50 regulates Beclin 1 proautophagic activity

Carmela Fusco, Barbara Mandriani, Martina Di Rienzo, +11

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Cell RegulationAutophagyImmunologyBeclin 1Medicine +1

Loss of Function of the Gene Encoding the Histone Methyltransferase KMT2D Leads to Deregulation of Mitochondrial Respiration

Consiglia Pacelli, Iolanda Adipietro, Natascia Malerba, +9

Cells

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder

Gabriella Maria Squeo, Bartolomeo Augello, Valentina Massa, +21

Journal of Medical Genetics

The epileptology of GNB5 encephalopathy

Gemma Poke, Chontelle King, Alison M. Muir, +19

Epilepsia

A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient

Natascia Malerba, Shelley Towner, Katherine E. Keating, +3

Frontiers in Genetics

KMT2D haploinsufficiency in Kabuki syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylation

Michele Gabriele, Alessandro Vitriolo, Sara Cuvertino, +23

Epigenetic ChangeGeneticsKmt2d HaploinsufficiencyCell SpecializationEpigenetics +23