Mariangela Amenduni

FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders

Jessica Mariani, Gianfilippo Coppola, Ping Zhang et al. · Cell · 2015 · 1.2K citations · Full text

Neurodevelopmental Disorders, Synaptic Plasticity, Molecular Neuroscience +10

Stimulation of nuclear receptor peroxisome proliferator–activated receptor‐γ limits NF‐κB‐dependent inflammation in mouse cystic fibrosis biliary epithelium

R. Scirpo, Romina Fiorotto, Ambra Villani et al. · Hepatology · 2015 · 146 citations · Full text

Macrophage recruitment by fibrocystin‐defective biliary epithelial cells promotes portal fibrosis in congenital hepatic fibrosis

Luigi Locatelli, Massimiliano Cadamuro, Carlo Spirlı̀ et al. · Hepatology · 2015 · 102 citations · Full text

Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome

Zafar Iqbal, Pilar Cejudo-Martı́n, Arjan de Brouwer et al. · The American Journal of Human Genetics · 2010 · 101 citations · Full text

Frank-ter Haar Syndrome, Transcriptional Regulation, Genetic Disorder +7

One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin

Alexej Abyzov, Livia Tomasini, Bo Zhou et al. · Genome Research · 2017 · 78 citations · Full text

Genetics, Healthy Human Body, Dermatology +18