Publications
Behavioral assessments remain the gold standard for autism spectrum disorder (ASD) diagnosis, and prospective analysis permits objective and longitudinal assessment for the earliest symptoms. Published estimates of sibling recurrence for ASD range from 6.9 to 19.5%. Read more “Predictive Impact of Rare Genomic Copy Number Variations in Siblings of Individuals with Autism Spectrum Disorders”
Publications
The majority of studies on human cancers published to date focus on coding genes. More recently, however, non-coding RNAs (ncRNAs) are gaining growing recognition as important regulatory components. Here we characterise the ncRNA landscape in 442 head and neck squamous cell carcinomas (HNSCs) from the cancer genome atlas (TCGA). Read more “Non-Coding RNAs Profiling in Head and Neck Cancers”
Publications
This study demonstrates that ROHs are much more frequent than previously recognized and often reflect parental relatedness, ascertain autosomal recessive diseases or unravel UPD in many cases. Read more “Regions of Homozygosity Identified by Oligonucleotide SNP Arrays”
Publications
PPARγ is the functioning receptor for the thiazolidinedione (TZD) class of anti-diabetes drugs including rosiglitazone and pioglitazone. These drugs are full classical agonists for this nuclear receptor, but recent data have shown that many PPARγ-based drugs have a separate biochemical activity, blocking the obesity-linked phosphorylation of PPARγ by Cdk5. Read more “Anti-Diabetic Actions of a Non-Agonist PPARγ Ligand Blocking Cdk5-Mediated Phosphorylation”
Publications
T-helper cells that produce interleukin-17 (TH17 cells) are a recently identified CD4+ T-cell subset with characterized pathological roles in autoimmune diseases1,2,3. The nuclear receptors retinoic-acid-receptor-related orphan receptors α and γt (RORα and RORγt, respectively) have indispensable roles in the development of this cell type4,5,6,7. Here we present SR1001, a high-affinity synthetic ligand—the first in a new class of compound—that is specific to both RORα and RORγt and which inhibits TH17 cell differentiation and function. Read more “Suppression of TH17 Differentiation and Autoimmunity by a Synthetic ROR Ligand”