P E Macchia
Affiliation: University of Chicago
- Recent advances in understanding the molecular basis of primary congenital hypothyroidismP E Macchia
University of Chicago, Department of Medicine, IL 60637, USA
Mol Med Today 6:36-42. 2000..The latter are usually associated with goiter. Recently, the molecular mechanisms of two forms of hormonogenesis defects (iodine transport defects and Pendred syndrome) were elucidated...
- Increased sensitivity to thyroid hormone in mice with complete deficiency of thyroid hormone receptor alphaP E Macchia
Department of Medicine, University of Chicago, MC 3090, 5841 South Maryland Avenue, Chicago, IL 60637, USA
Proc Natl Acad Sci U S A 98:349-54. 2001..This is an in vivo demonstration that a TR deficiency can enhance sensitivity to TH. This effect is likely due to the abrogation of the constitutive "silencing" effect of TRalpha2 in tissues expressing the TRbeta isoforms...
- Thyroid function and effect of aging in combined hetero/homozygous mice deficient in thyroid hormone receptors alpha and beta genesR E Weiss
Department of Medicine, Universty of Chicago, Chicago, Illinois 60637, USA
J Endocrinol 172:177-85. 2002....
- Expression of thyroid transcription factor 1 gene can be regulated at the transcriptional and posttranscriptional levelsR Lonigro
Department of Science and Biomedical Technology, University of Udine, Italy
Cell Growth Differ 7:251-61. 1996....
- PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesisP E Macchia
Stazione Zoologica A Dohrn, Napoli, Italy
Nat Genet 19:83-6. 1998..These genetic alterations implicate PAX8 in the pathogenesis of TD and in normal thyroid development...
- A mouse model for hereditary thyroid dysgenesis and cleft palateM De Felice
Stazione Zoologica Anton Dohrn, Napoli, Italy
Nat Genet 19:395-8. 1998..Thus, mutation of Titf2-/- results in neonatal hypothyroidism that shows similarity to thyroid dysgenesis in humans...
- Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2)P E Macchia
Stazione Zoologica A Dohrn, Naples, Italy
Biochimie 81:433-40. 1999..The polymorphisms identified in this study can be used as markers to study the role of the TITF2 gene in other cases of thyroid dysgenesis, especially in familial cases...