P E Macchia

Summary

Affiliation: University of Chicago
Country: USA

Publications

  1. ncbi Molecular genetics of congenital hypothyroidism
    P E Macchia
    Stazione Zoologica Anton Dohrn Villa Comunale, 80121, Napoli, Italy
    Curr Opin Genet Dev 9:289-94. 1999
  2. ncbi A mouse model for hereditary thyroid dysgenesis and cleft palate
    M De Felice
    Stazione Zoologica Anton Dohrn, Napoli, Italy
    Nat Genet 19:395-8. 1998
  3. ncbi Increased sensitivity to thyroid hormone in mice with complete deficiency of thyroid hormone receptor alpha
    P 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
  4. ncbi Thyroid function and effect of aging in combined hetero/homozygous mice deficient in thyroid hormone receptors alpha and beta genes
    R E Weiss
    Department of Medicine, Universty of Chicago, Chicago, Illinois 60637, USA
    J Endocrinol 172:177-85. 2002
  5. ncbi Expression of thyroid transcription factor 1 gene can be regulated at the transcriptional and posttranscriptional levels
    R Lonigro
    Department of Science and Biomedical Technology, University of Udine, Italy
    Cell Growth Differ 7:251-61. 1996
  6. ncbi PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
    P E Macchia
    Stazione Zoologica A Dohrn, Napoli, Italy
    Nat Genet 19:83-6. 1998
  7. ncbi 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

Collaborators

Detail Information

Publications7

  1. ncbi Molecular genetics of congenital hypothyroidism
    P E Macchia
    Stazione Zoologica Anton Dohrn Villa Comunale, 80121, Napoli, Italy
    Curr Opin Genet Dev 9:289-94. 1999
    ..This demonstrates, for the first time, the heritability of this condition. New genes responsible for thyroid dyshormonogenesis have also been discovered...
  2. ncbi A mouse model for hereditary thyroid dysgenesis and cleft palate
    M 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...
  3. ncbi Increased sensitivity to thyroid hormone in mice with complete deficiency of thyroid hormone receptor alpha
    P 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...
  4. ncbi Thyroid function and effect of aging in combined hetero/homozygous mice deficient in thyroid hormone receptors alpha and beta genes
    R E Weiss
    Department of Medicine, Universty of Chicago, Chicago, Illinois 60637, USA
    J Endocrinol 172:177-85. 2002
    ....
  5. ncbi Expression of thyroid transcription factor 1 gene can be regulated at the transcriptional and posttranscriptional levels
    R Lonigro
    Department of Science and Biomedical Technology, University of Udine, Italy
    Cell Growth Differ 7:251-61. 1996
    ....
  6. ncbi PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
    P 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...
  7. ncbi 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...