• Publications
  • Influence
A Mammalian microRNA Expression Atlas Based on Small RNA Library Sequencing
A relatively small set of miRNAs, many of which are ubiquitously expressed, account for most of the differences in miRNA profiles between cell lineages and tissues. Expand
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
Three point mutations in the coding region of PAX8 are reported in two sporadic patients and one familial case of TD, implicate PAX8 in the pathogenesis of TD and in normal thyroid development. Expand
Thyroid development and its disorders: genetics and molecular mechanisms.
Studies in murine models and in a few patients with dysgenesis revealed that mutations in regulatory genes expressed in the developing thyroid are responsible for this condition, thus showing that TD can be a genetic and inheritable disease. Expand
Regional expression of the homeobox gene Nkx-2.2 in the developing mammalian forebrain
A novel mouse homeobox-containing gene, Nkx-2.2, which is a member of a family of genes whose homeodomains are homologous to that of the Drosophila NK-2 gene, may be involved in specifying diencephalic neuromeric boundaries. Expand
An autoregulatory loop mediated by miR-21 and PDCD4 controls the AP-1 activity in RAS transformation
It is shown that the miRNA miR-21, which represents the most frequently upregulated oncomir in solid tumors, is induced by AP-1 in response to RAS, and that the tumor suppressors PTEN and PDCD4 are downregulated by RAS in anAP-1- and miR -21-dependent fashion. Expand
A mouse gene related to Distal-less shows a restricted expression in the developing forebrain
A murine homeobox gene is isolated that encodes a homeodomain similar to that encoded by the Drosophila Distalless (DlI) gene, which has a crucial role in Dosophila limb morphogenesis and is expressed in a restricted region of the developing brain. Expand
Molecular events involved in differentiation of thyroid follicular cells
Organogenesis is a complex event, often dependent on inductive tissue interactions, that ultimately promote expression and activation of a combinatorial sequence of transcription factors which areExpand
A mouse model for hereditary thyroid dysgenesis and cleft palate
It is shown that Titf2-null mutant mice exhibit cleft palate and either a sublingual or completely absent thyroid gland, which results in neonatal hypothyroidism that shows similarity to thyroid dysgenesis in humans. Expand
Kras regulatory elements and exon 4A determine mutation specificity in lung cancer
The two Kras isoforms undergo different post-translational modifications; therefore, these findings can have implications for the design of therapeutic strategies for inhibiting oncogenic Kras activity in human cancers. Expand
Mapping and Functional Role of Phosphorylation Sites in the Thyroid Transcription Factor-1 (TTF-1) (*)
Transcriptional activation by TTF-1 could require phosphorylation only in specific cell types since in a co-transfection assay in heterologous cells both wild-type and mutant proteins show a similar transcriptional activity. Expand