CONGENITAL HYPOTHYROIDISM WITH THYROID DYSGENESIS: NEW MUTATIONS, ANIMAL MODELS AND MOLECULAR MECHANISM

Pubblicazioni Scientifiche

• 2000 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  The thyroid transcription factor 2 (TTF-2) is a promoter-specific DNA-binding independent transcriptional repressor

• 2001 PROGRESS IN NUCLEIC ACID RESEARCH AND MOLECULAR BIOLOGY

  A unique combination of transcription factors controls differentiation of thyroid cells

• 1999 BIOCHEMICAL JOURNAL

  Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism

• 1999 MOLECULAR AND CELLULAR BIOLOGY

  The paired-domain transcription factor Pax8 binds to the upstream enhancer of the rat sodium/iodide symporter gene and participates in both thyroid-specific and cyclic-AMP-dependermt transcription

• 1998 NATURE GENETICS

  A mouse model for hereditary thyroid dysgenesis and cleft palate

• 1999 JOURNAL OF BIOLOGICAL CHEMISTRY

  Calreticulin enhances the transcriptional activity of thyroid transcription factor-1 by binding to its homeodomain

• 1998 NATURE GENETICS

  PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis

• 2000 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AME

  Pax8 has a key role in thyroid cell differentiation

• 2004 DEVELOPMENTAL BIOLOGY

  An integrated regulatory network controlling survival and migration in thyroid organogenesis

• 2001 JOURNAL OF BIOLOGICAL CHEMISTRY

  The DNA glycosylase T : G mismatch-specific thymine DNA glycosylase represses thyroid transcription factor-1-activated transcription

• 2004 ENDOCRINE REVIEWS

  Thyroid development and its disorders: Genetics and molecular mechanisms