A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Michael T. Lam, Simona Coppola, Oliver H.F. Krumbach, +57

The Journal of Experimental Medicine

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Simone Martinelli, Oliver H.F. Krumbach, Francesca Pantaleoni, +45

The American Journal of Human Genetics

Signal TransductionSignaling PathwayCell RegulationFunctional DysregulationGene Expression +3

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Elisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, +45

Human Molecular Genetics

EngineeringGeneticsPathologyMolecular GeneticsRas Genes +15

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Marialetizia Motta, Luca Pannone, Francesca Pantaleoni, +47

The American Journal of Human Genetics

Neurodevelopmental DisordersDevelopmental BiologyGenetic DisorderEnhanced Mapk1 FunctionDegenerative Disease +8

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Elisabetta Flex, Simone Martinelli, Anke Van Dijck, +56

The American Journal of Human Genetics

Genome InstabilityGeneticsAberrant FunctionAutophagyC-terminal Tail +5

Structural, Functional, and Clinical Characterization of a Novel<i>PTPN11</i>Mutation Cluster Underlying Noonan Syndrome

Luca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, +25

Human Mutation

Molecular Diversity and Associated Phenotypic Spectrum of Germline<i>CBL</i>Mutations

Simone Martinelli, Emilia Stellacci, Luca Pannone, +17

Human Mutation

GeneticsPathologyCbl MutationMolecular GeneticsGermline Genetics +15

Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein–Protein Interactions

Sara Bobone, Luca Pannone, Barbara Biondi, +25

Journal of Medicinal Chemistry

<i>De novo DHDDS</i> variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Serena Galosi, Ban H. Edani, Simone Martinelli, +47

Brain

Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders

Simona Coppola, Antonella Insalaco, Erika Zara, +9

Journal of Allergy and Clinical Immunology

Cdc42 CauseDisease MechanismGenetic DisorderAutoinflammatory DisordersPathogenesis +8