PAX8

Summary

Gene Symbol: PAX8
Description: paired box 8
Alias: paired box protein Pax-8, paired domain gene 8
Species: human

Top Publications

  1. ncbi Characterization of the upstream enhancer of the rat sodium/iodide symporter gene
    J T Chun
    Department of Biochemistry and Molecular Biology, Stazione Zoologica Anton Dohrn, Villa Comunale, Napoli, Italy
    Exp Clin Endocrinol Diabetes 109:23-6. 2001
  2. ncbi Transcriptional regulation of human sodium/iodide symporter gene: a role for redox factor-1
    Cinzia Puppin
    Dipartimento di Scienze e Tecnologie Biomediche, University of Udine, Italy
    Endocrinology 145:1290-3. 2004
  3. doi Effect of chilling and cryopreservation on expression of Pax genes in zebrafish (Danio rerio) embryos and blastomeres
    C Lin
    LIRANS Institute of Research in the Applied Natural Sciences, University of Bedfordshire, Bedfordshire, UK
    Cryobiology 59:42-7. 2009
  4. doi On the prevalence of the PAX8-PPARG fusion resulting from the chromosomal translocation t(2;3)(q13;p25) in adenomas of the thyroid
    Markus Klemke
    Center for Human Genetics, University of Bremen, Germany
    Cancer Genet 204:334-9. 2011
  5. ncbi Diagnostic utility of thyroid transcription factors Pax8 and TTF-2 (FoxE1) in thyroid epithelial neoplasms
    Daisuke Nonaka
    Department of Pathology, New York University School of Medicine, New York, NY 10016, USA
    Mod Pathol 21:192-200. 2008
  6. doi Enhancer of zeste homolog 2 overexpression has a role in the development of anaplastic thyroid carcinomas
    Eleonora Borbone
    Istituto di Endocrinologia ed Oncologia Sperimentale Consiglio Nazionale delle Ricerche, Universita di Napoli Federico II, 80131 Naples, Italy
    J Clin Endocrinol Metab 96:1029-38. 2011
  7. ncbi Expression of PAX8-PPAR gamma 1 rearrangements in both follicular thyroid carcinomas and adenomas
    Ana Rita Marques
    Centro de Investigação de Patobiologia Molecular, Instituto Portugues de Oncologia Francisco Gentil, 1099 023 Lisboa Codex, Portugal
    J Clin Endocrinol Metab 87:3947-52. 2002
  8. ncbi Role for p300 in Pax 8 induction of thyroperoxidase gene expression
    R De Leo
    Laboratory of Molecular Pathology and Ultrastructure, Regina Elena Cancer Institute, Via delle Messi d Oro 156, 00158 Rome, Italy
    J Biol Chem 275:34100-5. 2000
  9. ncbi Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8
    C Vilain
    Institut de Recherche Interdisciplinaire en Biologie Humaine et Nucleaire, Faculte de Medecine, Universite Libre de Bruxelles, B 1070 Brussels, Belgium
    J Clin Endocrinol Metab 86:234-8. 2001
  10. ncbi A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child
    T Congdon
    Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University, Chicago, Illinois 60611, USA
    J Clin Endocrinol Metab 86:3962-7. 2001

Research Grants

  1. RONALD JAY KOENIG; Fiscal Year: 2014
  2. RONALD JAY KOENIG; Fiscal Year: 2016
  3. Is thyroxine more than a prohormone?
    Valerie Anne Galton; Fiscal Year: 2013
  4. Neil A Hukriede; Fiscal Year: 2015
  5. Discovering modulators of PAX8 for targeting ovarian cancer
    William C Hahn; Fiscal Year: 2013
  6. Factors Regulating Inner Ear Specification
    Jean Pierre Saint Jeannet; Fiscal Year: 2010
  7. THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERS
    Samuel Refetoff; Fiscal Year: 2005
  8. TUMOR SUPPRESSORS AND DIFFERENTIATED THYROID CANCER
    NORMAN EBERHARDT; Fiscal Year: 2008
  9. STRUCTURE/FUNCTION OF GROWTH HORMONE RELATED GENE
    NORMAN EBERHARDT; Fiscal Year: 2002
  10. INTRACELLULAR AMYLOIDOGENESIS AND APOPTOSIS IN NIDDM
    NORMAN EBERHARDT; Fiscal Year: 2006

Detail Information

Publications236 found, 100 shown here

  1. ncbi Characterization of the upstream enhancer of the rat sodium/iodide symporter gene
    J T Chun
    Department of Biochemistry and Molecular Biology, Stazione Zoologica Anton Dohrn, Villa Comunale, Napoli, Italy
    Exp Clin Endocrinol Diabetes 109:23-6. 2001
    ..A paired-domain transcription factor Pax8 binds to this enhancer and can stimulate the transcription in non-thyroid cells that do not normally support the ..
  2. ncbi Transcriptional regulation of human sodium/iodide symporter gene: a role for redox factor-1
    Cinzia Puppin
    Dipartimento di Scienze e Tecnologie Biomediche, University of Udine, Italy
    Endocrinology 145:1290-3. 2004
    ..Cotransfection experiments performed in nonthyroid HeLa cells demonstrated that APE/Ref-1 exerts both PAX8-dependent and PAX8-independent effects...
  3. doi Effect of chilling and cryopreservation on expression of Pax genes in zebrafish (Danio rerio) embryos and blastomeres
    C Lin
    LIRANS Institute of Research in the Applied Natural Sciences, University of Bedfordshire, Bedfordshire, UK
    Cryobiology 59:42-7. 2009
    ..RT-PCR analysis to determine the effect of chilling and cryopreservation on expression of Pax2a, Pax2b, Pax5 and Pax8 which constitute one subgroup of the Pax gene family...
  4. doi On the prevalence of the PAX8-PPARG fusion resulting from the chromosomal translocation t(2;3)(q13;p25) in adenomas of the thyroid
    Markus Klemke
    Center for Human Genetics, University of Bremen, Germany
    Cancer Genet 204:334-9. 2011
    ..Later, a fusion of the genes PAX8 and PPARG resulting from this translocation was frequently observed in follicular carcinomas and considered as a ..
  5. ncbi Diagnostic utility of thyroid transcription factors Pax8 and TTF-2 (FoxE1) in thyroid epithelial neoplasms
    Daisuke Nonaka
    Department of Pathology, New York University School of Medicine, New York, NY 10016, USA
    Mod Pathol 21:192-200. 2008
    Thyroid-specific transcription factors, Pax8, TTF-1, and TTF-2, are crucial for thyroid organogenesis and differentiation. Compared with TTF-1, the other two markers have scarcely been investigated in surgical pathology...
  6. doi Enhancer of zeste homolog 2 overexpression has a role in the development of anaplastic thyroid carcinomas
    Eleonora Borbone
    Istituto di Endocrinologia ed Oncologia Sperimentale Consiglio Nazionale delle Ricerche, Universita di Napoli Federico II, 80131 Naples, Italy
    J Clin Endocrinol Metab 96:1029-38. 2011
    ..Enhancer of zeste homolog 2 (EZH2) is a histone lysine methyltransferase belonging to the polycomb group protein family. Overexpression of EZH2 has been found in several human malignancies including hematological and solid tumors...
  7. ncbi Expression of PAX8-PPAR gamma 1 rearrangements in both follicular thyroid carcinomas and adenomas
    Ana Rita Marques
    Centro de Investigação de Patobiologia Molecular, Instituto Portugues de Oncologia Francisco Gentil, 1099 023 Lisboa Codex, Portugal
    J Clin Endocrinol Metab 87:3947-52. 2002
    Recently, a translocation t(2;3)(q13;p25), leading to the formation of a chimeric PAX8-peroxisome proliferator-activated receptor (PPAR)gamma 1 oncogene, was detected in follicular thyroid carcinomas (FTC), but not in follicular thyroid ..
  8. ncbi Role for p300 in Pax 8 induction of thyroperoxidase gene expression
    R De Leo
    Laboratory of Molecular Pathology and Ultrastructure, Regina Elena Cancer Institute, Via delle Messi d Oro 156, 00158 Rome, Italy
    J Biol Chem 275:34100-5. 2000
    ..In agreement with our finding and with the ability of the adenoviral protein E1A to bind p300, we show that E1A down-regulates Pax 8 activity...
  9. ncbi Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8
    C Vilain
    Institut de Recherche Interdisciplinaire en Biologie Humaine et Nucleaire, Faculte de Medecine, Universite Libre de Bruxelles, B 1070 Brussels, Belgium
    J Clin Endocrinol Metab 86:234-8. 2001
    ..b>PAX8 is a transcription factor involved in thyroid development...
  10. ncbi A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child
    T Congdon
    Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University, Chicago, Illinois 60611, USA
    J Clin Endocrinol Metab 86:3962-7. 2001
    ..including mutations in the TSHbeta-subunit, the TSH receptor, the G(s)alpha-subunit, and the transcription factor PAX8. Four girls with sporadic congenital hypothyroidism and hypoplastic thyroid glands were analyzed for mutations in ..
  11. ncbi Screening for Pax8 mutations in patients with congenital hypothyroidism in South-West Germany
    Kirsten Lanzerath
    Division of Pediatric Endocrinology and Diabetology, Department of Pediatrics, University of Heidelberg, Heidelberg, Germany
    Horm Res 66:96-100. 2006
    To study the frequency of mutations in the Pax8 gene in a cohort of patients with congenital hypothyroidism (CH) in South West Germany.
  12. doi PAX8 regulates telomerase reverse transcriptase and telomerase RNA component in glioma
    Yu Jen Chen
    Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
    Cancer Res 68:5724-32. 2008
    ..The mRNA level of PAX8 showed a positive correlation with telomerase activity in glioma biopsies (r(2) = 0.75, P < 0...
  13. pmc PAX8 promotes tumor cell growth by transcriptionally regulating E2F1 and stabilizing RB protein
    C G Li
    Department of Pathology, Dunedin School of Medicine, University of Otago, New Zealand
    Oncogene 30:4824-34. 2011
    ..Several PAX proteins (tissue-specific developmental regulators), including PAX8, interact with the RB protein, and thus regulate the cell cycle directly or indirectly...
  14. pmc Pair-Box (PAX8) protein-positive expression is associated with poor disease outcome in women with endometrial cancer
    P Mhawech-Fauceglia
    Department of Pathology at Roswell Park Cancer Institute, Buffalo, NY, USA
    Br J Cancer 107:370-4. 2012
    The Pax8 transcription factor genes have a role in cell differentiation and cell growth, and silencing of Pax8 in cell cultures results in cell death...
  15. ncbi PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors
    A Poleev
    Institute for Molecular Biology, Salzburg, Austria
    Development 116:611-23. 1992
    Recent evidence indicates a crucial role for paired box genes in mouse and human embryogenesis. The murine Pax8 gene encodes a sequence-specific transcription factor and is expressed in the developing secretory system as well as in the ..
  16. ncbi Distinct functional properties of three human paired-box-protein, PAX8, isoforms generated by alternative splicing in thyroid, kidney and Wilms' tumors
    A Poleev
    Institute for Molecular Biology, Salzburg, Austria
    Eur J Biochem 228:899-911. 1995
    ..The murine and human Pax8 genes are expressed in developing and adult thyroid as well as in the developing secretory system and at the lower ..
  17. ncbi PAX 8 regulates human WT1 transcription through a novel DNA binding site
    G C Fraizer
    Department of Biochemistry and Molecular Biology, The University of Texas M D Anderson Cancer Center, Houston, Texas 77030, USA
    J Biol Chem 272:30678-87. 1997
    ..Thus, we identified a novel functional binding site for the transcription factor PAX 8, suggesting that part of its role in kidney development may be as a modulator of WT1 expression in the kidney...
  18. 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
    ..We report mutations in the coding region of PAX8 in two sporadic patients and one familial case of TD...
  19. ncbi Follicular cells of the thyroid gland require Pax8 gene function
    A Mansouri
    MPI of Biophysical Chemistry, Dept of Molecular Cell Biology, Gottingen, Germany
    Nat Genet 19:87-90. 1998
    ..By analysis of Pax8-/- mice, we demonstrate that Pax8 is required for the formation of the follicular cells in the thyroid...
  20. ncbi The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription
    Tina Di Palma
    Istituto di Endocrinologia ed Oncologia Sperimentale, CNR and Department Biologia e Patologia Cellulare e Molecolare, Via Pansini 5, 80131 Naples, Italy
    J Biol Chem 278:3395-402. 2003
    Pax genes encode for transcription factors essential for tissue development in many species. Pax8, the only member of the family expressed in the thyroid tissue, is involved in the morphogenesis of the gland and in the transcriptional ..
  21. ncbi Functional interaction among thyroid-specific transcription factors: Pax8 regulates the activity of Hex promoter
    Cinzia Puppin
    Dipartimento di Scienze e Tecnologie Biomediche, Universita di Udine, Piazzale Kolbe 1, 33100 Udine, Italy
    Mol Cell Endocrinol 214:117-25. 2004
    ..By means of RT-PCR assays we found a correlation between the Hex and Pax8 (a different tissue-specific transcription factor, expressed in TFC) mRNA levels in normal and neoplastic thyroid ..
  22. ncbi Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid
    Laurent Meeus
    IRIBHM, Universite Libre de Bruxelles, Campus Erasme, 808 Route de Lennik, B 1070 Bruxelles, Belgium
    J Clin Endocrinol Metab 89:4285-91. 2004
    ..b>PAX8 is one of these transcription factors, and so far, five mutations have been identified in its paired domain in ..
  23. ncbi Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity
    Helmut Grasberger
    The University of Chicago, MC3090, 5841 South Maryland Avenue, Chicago, IL 60637, USA
    Mol Endocrinol 19:1779-91. 2005
    Mutations in the paired domain transcription factor PAX8 are a rare cause of congenital hypothyroidism due to thyroid dysgenesis...
  24. ncbi Expression, regulation, and function of paired-box gene 8 in the human placenta and placental cancer cell lines
    Elisabetta Ferretti
    Department of Clinical Science, University of Rome, La Sapienza, Rome, Italy
    Endocrinology 146:4009-15. 2005
    ..During development, the paired-box gene 8 (PAX8) is expressed in the thyroid, kidney, and several areas of the central nervous system...
  25. ncbi PAX8-peroxisome proliferator-activated receptor gamma (PPARgamma) disrupts normal PAX8 or PPARgamma transcriptional function and stimulates follicular thyroid cell growth
    Amy Y M Au
    Cancer Genetics Unit, Kolling Institute of Medical Research, University of Sydney, Royal North Shore Hospital, St Leonards, New South Wales 2065, Australia
    Endocrinology 147:367-76. 2006
    ..associated with a chromosomal translocation that fuses the thyroid-specific transcription factor paired box gene 8 (PAX8) with the nuclear receptor peroxisome proliferator-activated receptor gamma (PPARgamma)...
  26. ncbi Emerging roles for PAX8 in ovarian cancer and endosalpingeal development
    Nathan J Bowen
    School of Biology, Georgia Institute of Technology, and Ovarian Cancer Institute, Atlanta, GA 30332, USA
    Gynecol Oncol 104:331-7. 2007
    ..Aberrant transcriptional expression of PAX8 has been reported in epithelial ovarian cancer, prompting us to initiate the molecular characterization of this ..
  27. pmc The solution structure of DNA-free Pax-8 paired box domain accounts for redox regulation of transcriptional activity in the pax protein family
    Luca Codutti
    Dipartimento di Scienze e Tecnologie Biomediche, Universita Degli Studi di Udine, P le Kolbe 4, 33100 Udine, Italy
    J Biol Chem 283:33321-8. 2008
    ..Finally, sequence conservation suggests that our findings could be a general feature of the Pax family transcription factors...
  28. doi TAZ is a coactivator for Pax8 and TTF-1, two transcription factors involved in thyroid differentiation
    Tina Di Palma
    Istituto di Endocrinologia e Oncologia Sperimentale G Salvatore CNR and Dpt Biologia e Patologia Cellulare e Molecolare, Universita di Napoli Federico II, Via S Pansini 5, 80131 Napoli, Italy
    Exp Cell Res 315:162-75. 2009
    b>Pax8 and TTF-1 are transcription factors involved in the morphogenesis of the thyroid gland and in the transcriptional regulation of thyroid-specific genes...
  29. doi Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations
    Lucia Montanelli
    Dipartimento di Endocrinologia e Metabolismo, Centro Eccellenza AmbiSEN, Universita degli Studi di Pisa, Via Paradisa 2, 56124 Cisanello, Pisa, Italy
    Mol Cell Endocrinol 322:64-71. 2010
    ..TD is usually sporadic but mutations in transcription factors (PAX8, TTF1, FOXE1 and NKX2-5) involved in thyroid development have been shown to cause a minority of cases transmitted ..
  30. doi PAX8 Expression in well-differentiated pancreatic endocrine tumors: correlation with clinicopathologic features and comparison with gastrointestinal and pulmonary carcinoid tumors
    Kevin B Long
    Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA, USA
    Am J Surg Pathol 34:723-9. 2010
    ..We recently observed that islet cells show strong, diffuse staining for PAX8 by immunohistochemistry...
  31. doi Utility of paired box gene 8 (PAX8) expression in fluid and fine-needle aspiration cytology: an immunohistochemical study of metastatic ovarian serous carcinoma
    Ryan McKnight
    Department of Pathology and Laboratory Medicine, Emory University Hospital, Atlanta, GA, USA
    Cancer Cytopathol 118:298-302. 2010
    ..Recently, paired box gene 8 (PAX8) has been used in distinguishing ovarian from mammary carcinoma...
  32. doi Pax8: a marker for carcinoma of Müllerian origin in serous effusions
    Guo Xia Tong
    Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA
    Diagn Cytopathol 39:567-74. 2011
    b>PAX8 is a nuclear transcription factor with limited expression in normal and neoplastic tissues in a cell lineage-dependent manner. PAX8 has been detected in embryonic Müllerian ducts, human fallopian tubes, and ovarian carcinomas...
  33. doi Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism
    Tina Di Palma
    IEOS, G Salvatore National Research Council, Naples, Italy
    Clin Endocrinol (Oxf) 73:808-14. 2010
    ..Most cases of TD are sporadic, although familial occurrences have occasionally been described. Recently, mutations in the PAX8 transcription factor have been identified in patients with TD.
  34. doi PAX 8 expression in non-neoplastic tissues, primary tumors, and metastatic tumors: a comprehensive immunohistochemical study
    Ayhan Ozcan
    Departments of Pathology, The Methodist Hospital, Houston, TX 77030, USA
    Mod Pathol 24:751-64. 2011
    ..This tissue/cell-specific expression is maintained during both neoplastic transformation and metastasis. PAX 8 is a sensitive and specific marker for tumors of renal, Müllerian, or thyroid origin in both primary and metastatic sites...
  35. doi A comprehensive analysis of PAX8 expression in human epithelial tumors
    Anna R Laury
    Department of Pathology, Brigham and Women s Hospital, 75 Francis Street, Boston, MA 02115, USA
    Am J Surg Pathol 35:816-26. 2011
    b>PAX8 is a paired-box gene important in embryogenesis of the thyroid, Müllerian, and renal/upper urinary tracts, and expression of PAX8 has been previously described in carcinomas from each of these sites...
  36. doi A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract
    Ana Carvalho
    1 Department of Pediatrics, Hospital of Divino Espirito Santo, Ponta Delgada, Portugal
    Thyroid 23:1074-8. 2013
    ..The objective of this study was to screen the PAX8 gene and the PAX2 gene in a family with six cases of CH spanning three generations and presenting urogenital ..
  37. pmc Comparative in situ hybridization analysis of PAX2, PAX8, and WT1 gene transcription in human fetal kidney and Wilms' tumors
    M R Eccles
    Department of Biochemistry, University of Otago, Dunedin, New Zealand
    Am J Pathol 146:40-5. 1995
    ..Two members of the paired box family of genes, PAX2 and PAX8, are expressed in WT and are potentially involved in its induction...
  38. pmc Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation properties
    Z Kozmik
    Research Institute of Molecular Pathology, Vienna, Austria
    Mol Cell Biol 13:6024-35. 1993
    ..Hence, alternative splicing of Pax-8 gene transcripts not only generates six different Pax-8 variants but is also temporally and spatially regulated during early mouse development...
  39. ncbi The synergistic activity of thyroid transcription factor 1 and Pax 8 relies on the promoter/enhancer interplay
    Stefania Miccadei
    Laboratory of Immunology, Regina Elena Cancer Institute, Rome 00158, Italy
    Mol Endocrinol 16:837-46. 2002
    ..We have characterized the cis and trans requirements of the TTF1/Pax 8 synergistic activity on the thyroperoxidase gene. We show that their synergy is also important for thyroglobulin gene transcription...
  40. ncbi PAX8 and peroxisome proliferator-activated receptor gamma 1 gene expression status in benign and malignant thyroid tissues
    Ludovic Lacroix
    CNRS UMR 8125 Commissariat a l Energie Atomique, LRC29V, and Department of Clinical Biology, Institut Gustave Roussy, 94805 Villejuif Cedex, France
    Eur J Endocrinol 151:367-74. 2004
    Genetic alterations involving the thyroid transcription factor PAX8 and the peroxisome proliferator-activated receptor gamma 1 (PPARgamma1) genes have been described in thyroid neoplasms...
  41. ncbi Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant
    Massimo Tonacchera
    Dipartimento di Endocrinologia e Metabolismo, Centro di Eccellenza AmbiSEN, Universita di Pisa, Pisa, Italy
    Clin Endocrinol (Oxf) 67:34-40. 2007
    To analyse the coding region of PAX8 in individuals with congenital (CH) or post neonatal hypothyroidism due to dysgenetic (TD) or eutopic thyroid glands.
  42. ncbi Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism
    Eva Al Taji
    Department of Paediatrics, 3rd Faculty of Medicine, Charles University, Prague, Czech Republic
    Eur J Endocrinol 156:521-9. 2007
    Mutations in NKX2.1, NKX2.5, FOXE1 and PAX8 genes, encoding for transcription factors involved in the development of the thyroid gland, have been identified in a minority of patients with syndromic and non-syndromic congenital ..
  43. doi Expression of pax8 as a useful marker in distinguishing ovarian carcinomas from mammary carcinomas
    Daisuke Nonaka
    Department of Pathology, New York University School of Medicine, New York, NY 10016, USA
    Am J Surg Pathol 32:1566-71. 2008
    ..Metastatic breast carcinoma can mimic a primary ovarian carcinoma. Pax8 is a crucial transcription factor for organogenesis of the thyroid gland, kidney, and Müllerian system, and it ..
  44. doi Poly(ADP-ribose) polymerase 1 binds to Pax8 and inhibits its transcriptional activity
    Tina Di Palma
    Department di Biologia e Patologia Cellulare e Molecolare, Istituto di Endocrinologia e Oncologia Sperimentale G Salvatore CNR, Universita di Napoli Federico II, Via S Pansini 5, 80131 Napoli, Italy
    J Mol Endocrinol 41:379-88. 2008
    b>Pax8 is a transcription factor that plays an important role in the regulation of genes that are exclusively expressed in differentiated thyroid cells...
  45. doi Expression of PAX8 in normal and neoplastic renal tissues: an immunohistochemical study
    Guo Xia Tong
    Department of Pathology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Mod Pathol 22:1218-27. 2009
    ..Together with PAX2, PAX8 is a nephric-lineage transcription factor and is required for the establishment of renal-lineage cells and the ..
  46. doi Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients
    Satoshi Narumi
    Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 95:1981-5. 2010
    ..Gene mutations of transcription factors that are predominantly expressed in the thyroid gland cause congenital hypothyroidism (CH). The prevalence of CH due to transcription factor mutations remains undetermined...
  47. doi PAX8 is expressed in pancreatic well-differentiated neuroendocrine tumors and in extrapancreatic poorly differentiated neuroendocrine carcinomas in fine-needle aspiration biopsy specimens
    Claudia M Haynes
    Department of Pathology, Stanford University, Stanford, California, USA
    Cancer Cytopathol 119:193-201. 2011
    PAX (paired box) genes encode a family of transcription factors important for organogenesis. Recently, PAX8 has been recognized as a potential immunohistochemical marker of pancreatic neuroendocrine tumors...
  48. doi Immunoexpression of PAX 8 in endometrial cancer: relation to high-grade carcinoma and p53
    Andreas H Brunner
    Department of Obstetrics and Gynecology, Landesklinikum Thermenregion Moedling Vienna Center for Medical Statistics, Informatics, and Intelligent Systems, Medical University of Vienna, Sr Maria Restitutag 12, Moedling Vienna, Austria
    Int J Gynecol Pathol 30:569-75. 2011
    ..PAX 8 overexpression correlates with p53 expression and high-grade endometrial carcinomas but seems not to be useful as a prognostic parameter...
  49. pmc Pair Box 8 (PAX8) protein expression in high grade, late stage (stages III and IV) ovarian serous carcinoma
    Paulette Mhawech-Fauceglia
    Department of Pathology, University of Southern California, Los Angeles, CA 90033 5000, USA
    Gynecol Oncol 127:198-201. 2012
    Pair-Box 8 (PAX8) is a transcription factor which has been found to be overexpressed in ovarian serous carcinoma (OSC)...
  50. doi Utility of PAX8 and PAX2 immunohistochemistry in the identification of renal cell carcinoma in diagnostic cytology
    Stewart M Knoepp
    Department of Pathology, University of Michigan Medical School, 1500E Medical Center Drive, Ann Arbor, MI 48109, USA
    Diagn Cytopathol 40:667-72. 2012
    ..Recently, PAX2 was shown to be useful in this regard. In this study, we sought to compare the utility of PAX8 to that of PAX2 immunohistochemistry in the diagnosis of RCC in cytology specimens...
  51. ncbi PAX8-PPARgamma rearrangement is frequently detected in the follicular variant of papillary thyroid carcinoma
    P Castro
    Institute of Molecular Pathology and Immunology of the University of Porto, 4200 465 Porto, Portugal
    J Clin Endocrinol Metab 91:213-20. 2006
    ..The clinicopathological characteristics and the molecular features of the follicular variant of papillary thyroid carcinoma (FVPTC) remain controversial...
  52. ncbi Congenital hypothyroidism clinical aspects and late consequences
    Atilla Buyukgebiz
    Dokuz Eylül Faculty of Medicine, Department of Pediatric Endocrinology and Adolescence Inciralti, Izmir, Turkiye
    Pediatr Endocrinol Rev 1:185-90; discussion 190. 2003
    ..most common cause of permenant CH is thyroid dysgenesis (85-90%) in which the transcription factors TTF1,TTF2 and PAX8 would appear to be obvious candidate genes in the aetiology...
  53. pmc Evolution of developmental roles of Pax2/5/8 paralogs after independent duplication in urochordate and vertebrate lineages
    Susan Bassham
    Center for Ecology and Evolutionary Biology, University of Oregon, Eugene, OR 97403, USA
    BMC Biol 6:35. 2008
    ..of urochordate and vertebrate lineages, two rounds of independent gene duplications resulted in the Pax2, Pax5, and Pax8 genes of most vertebrates (the sister group of the urochordates), and an additional duplication provided the pax2a ..
  54. ncbi Recurrent fusion oncogenes in carcinomas
    Manuel R Teixeira
    Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, 4200 072 Porto, Portugal
    Crit Rev Oncog 12:257-71. 2006
    ..characterizing carcinomas is summarized, namely, the RET and NTRK1 fusion oncogenes in papillary thyroid carcinoma, PAX8-PPARG in follicular thyroid carcinoma, MECT1-MAML2 in mucoepidermoid carcinoma, the TFE3 and TFEB fusion oncogenes ..
  55. ncbi Pax 2/8-regulated Gata 3 expression is necessary for morphogenesis and guidance of the nephric duct in the developing kidney
    David Grote
    McGill Cancer Centre and Biochemistry Department, McGill University, 3655 Promenade Sir William Osler, Montreal, Quebec H3G 1Y6, Canada
    Development 133:53-61. 2006
    ..The transcription factors Pax2 and Pax8 are essential for the initiation of pro- and mesonephros development...
  56. ncbi Characterization and developmental expression of the amphioxus homolog of Notch (AmphiNotch): evolutionary conservation of multiple expression domains in amphioxus and vertebrates
    L Z Holland
    Marine Biology Research Division, University of California at San Diego, La Jolla, California 92093 0202, USA
    Dev Biol 232:493-507. 2001
    ..A comparison with Notch1 and Pax5 and Pax8 expression in the embryonic mouse kidney helps support homology of the amphioxus and vertebrate kidneys...
  57. pmc Underexpression of peroxisome proliferator-activated receptor (PPAR)gamma in PAX8/PPARgamma-negative thyroid tumours
    A R Marques
    , , Rua Professor Lima Basto, 1099 023 Lisboa Codex, Portugal
    Br J Cancer 91:732-8. 2004
    ..We have demonstrated that NT tissues express PPARgamma both at mRNA and at protein level. PAX8-PPARgamma fusion gene expression was found in 25% (six of 24) of follicular thyroid carcinomas (FTCs) and in 17% (..
  58. ncbi Pax2.1 is required for the development of thyroid follicles in zebrafish
    Thomas Wendl
    Institute for Developmental Biology, University of Cologne, Gyrhofstrasse 17, D 50923 Köln, Germany
    Development 129:3751-60. 2002
    ..We show that pax2.1 and pax8, members of the zebrafish pax2/5/8 paralogue group, are expressed in the thyroid primordium...
  59. doi Melanotic Xp11 translocation renal cancers: a distinctive neoplasm with overlapping features of PEComa, carcinoma, and melanoma
    Pedram Argani
    Department of Pathology, The Johns Hopkins Hospital, The Johns Hopkins University, Baltimore, MD 21231 2410, USA
    Am J Surg Pathol 33:609-19. 2009
    ..protein, MiTF, or any epithelial marker (cytokeratins, epithelial membrane antigen), renal tubular marker (CD10, PAX8, PAX2, RCC Marker) or muscle marker (actin, desmin)...
  60. pmc The role of the PAX8/PPARgamma fusion oncogene in the pathogenesis of follicular thyroid cancer
    Norman L Eberhardt
    Department of Medicine, Division of Endocrinology, Mayo Clinic and Foundation, Rochester, MN 55905, United States
    Mol Cell Endocrinol 321:50-6. 2010
    ..Recent studies have focused on a chromosomal translocation, t(2;3) (q13;p25), fusing PAX8, a transcription factor that is essential for normal thyroid gland development, with the peroxisome proliferator-..
  61. ncbi Review: molecular thyroidology
    W E Winter
    Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville 32610 0275, USA
    Ann Clin Lab Sci 31:221-44. 2001
    ..receptor loss-of-function mutations); defects in thyroid gland formation: transcription factor mutations (TTF-2 and Pax8); defects in peripheral thyroid hormone metabolism (defective intrapituitary conversion of T4 to T3; hemangioma ..
  62. doi Diagnostic markers and prognostic factors in thyroid cancer
    Menno R Vriens
    Department of Surgery, University of California, San Francisco, CA, USA
    Future Oncol 5:1283-93. 2009
    ..Combined testing of RET/PTC, NTRK, RAS and PAX8-PPARgamma, which are mutually exclusive mutations, helps improve the accuracy of fine-needle aspiration biopsy...
  63. doi Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma
    Hussein Raef
    Department of Genetics MBC 03, King Faisal Specialist Hospital and Research Centre, P O Box 3354, Riyadh 11211, Saudi Arabia
    J Clin Endocrinol Metab 95:1000-6. 2010
    ..Dyshormonogenesis due to genetic defect in thyroglobulin (Tg) synthesis and secretion can lead to congenital hypothyroidism...
  64. doi Identification of a paired box gene 8-peroxisome proliferator-activated receptor gamma (PAX8-PPARgamma) rearrangement mosaicism in a patient with an autonomous functioning follicular thyroid carcinoma bearing an activating mutation in the TSH receptor
    J Lado-Abeal
    UETeM Unidade de Enfermedades Tiroideas e Metabolicas, Department of Medicine, School of Medicine, University of Santiago de Compostela, Santiago de Compostela 15705, Spain
    Endocr Relat Cancer 17:599-610. 2010
    ..search for mutations in candidate genes and for paired box gene 8-peroxisome proliferator-activated receptor gamma (PAX8-PPARgamma) rearrangement in a well-differentiated angioinvasive follicular thyroid carcinoma (FTC) causing ..
  65. doi A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea
    Alfonso Massimiliano Ferrara
    Dipartimento di Endocrinologia ed Oncologia Molecolare e Clinica, Universita degli Studi di Napoli Federico II, Napoli, Italy
    Thyroid 18:1005-9. 2008
    ..The aim of this study was to establish the genetic defects that cause that phenotype and study the molecular mechanisms of the pathology...
  66. ncbi Transcriptional regulation of the human sodium/iodide symporter gene by Pax8 and TTF-1
    T L Schmitt
    Department of Internal Medicine I, University Clinic of Ulm, Germany
    Exp Clin Endocrinol Diabetes 109:27-31. 2001
    ..We investigated the influence of the thyroid-specific transcription factors TTF-1 and Pax8 on the NIS promoter and its 5'-flanking sequence...
  67. ncbi Thyroid hormone regulates heparan sulfate proteoglycan expression in the growth plate
    J H D Bassett
    Molecular Endocrinology Group, Division of Medicine and Medical Research Council Clinical Sciences Centre, Hammersmith Hospital, Du Cane Road, London W12 0NN, United Kingdom
    Endocrinology 147:295-305. 2006
    ..12-wk-old rats rendered euthyroid, thyrotoxic, or hypothyroid at 6 wk of age, 14-d-old congenitally hypothyroid Pax8-null mice, and TRalpha/TRbeta double-null mice lacking all thyroid hormone receptors...
  68. ncbi Maturation of ribbon synapses in hair cells is driven by thyroid hormone
    Gaston Sendin
    InnerEarLab, Department of Otolaryngology and Center for Molecular Physiology of the Brain, Göttingen University Medical School, 37075 Gottingen, Germany
    J Neurosci 27:3163-73. 2007
    ..recordings of Ca2+ currents and exocytic membrane capacitance changes in IHCs of athyroid and TH-substituted Pax8-/- mice during postnatal development...
  69. ncbi Refinement of bovine chromosome 2 linkage map near the mh locus reveals rearrangements between the bovine and human genomes
    T S Sonstegard
    Beltsville Agricultural Research Center BARC, MD 20705, USA
    Anim Genet 29:341-7. 1998
    ..used to place the human orthologues of engrailed-1 (EN1), interleukin 1 beta (IL1B), and paired-box-containing 8 (PAX8) genes on the cattle map to further define the positions of breakpoints in conserved synteny and gene order...
  70. 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
    ..the same mouse (TRalphao/o; TRbeta-/-) resulted in serum TSH values only slightly lower than those in athyreotic, Pax8 knockout mice...
  71. ncbi [Well differentiated thyroid carcinoma: new perspectives and old dilemmas]
    Luca Di Tommaso
    Dipartimento di Patologia, Facolta di Medicina, Universita di Milano, Istituto Clinico Humanitas, Rozzano, Milano
    Ann Ital Chir 77:199-208. 2006
    ..of molecular biology in the diagnosis of well differentiated thyroid carcinoma; indeed markers such as RET/PTC or PAX8/PPARgamma, which to date have been employed mainly in basic research, might represent useful diagnostic (and ..
  72. doi Developmental changes of cone opsin expression but not retinal morphology in the hypothyroid Pax8 knockout mouse
    Anika Glaschke
    Max Planck Institute for Brain Research, Frankfurt am Main, Germany
    Invest Ophthalmol Vis Sci 51:1719-27. 2010
    ..of postnatal hypothyroidism on retinal development and spatial patterning of cone opsin expression were studied in Pax8-deficient mice...
  73. ncbi Expression of pituitary hormones in the Pax8-/- mouse model of congenital hypothyroidism
    Sonke Friedrichsen
    Max Planck Institut fur Experimentelle Endokrinologie, D 30625 Hannover, Germany
    Endocrinology 145:1276-83. 2004
    ..b>Pax8-/- mice, which are born without a thyroid gland, were used to study the influence of thyroid hormones on the ..
  74. ncbi Hearing loss in athyroid pax8 knockout mice and effects of thyroxine substitution
    Stephanie Christ
    Max Planck Institut fur Experimentelle Endokrinologie, Hannover, Germany
    Audiol Neurootol 9:88-106. 2004
    b>Pax8-/- mice do not develop thyroid follicular structures and thus provide an ideal animal model to study the consequences of congenital hypothyroidism. Despite their athyroidism, Pax8-/- mice survive up to postnatal day 21 (P21)...
  75. ncbi Expression and thyroid hormone regulation of annexins in the anterior pituitary
    Jens Mittag
    Max Planck Institute for Experimental Endocrinology, Feodor Lynen Str 7, D 30625 Hannover, Germany
    J Endocrinol 195:385-92. 2007
    ..in analyzing the mRNA expression of the annexins in the severely disorganized pituitaries of the athyroid Pax8(-/-) mice in comparison with that of control animals...
  76. ncbi Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland
    D Plachov
    Max Planck Institute for Biophysical Chemistry, Department of Molecular Cell Biology, FRG
    Development 110:643-51. 1990
    ..Here we describe the isolation of Pax8, a novel paired box containing clone from an 8.5 day p.c. mouse embryo cDNA library...
  77. pmc 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-dependent transcription
    M Ohno
    Stazione Zoologica Anton Dohrn, 80121 Naples, Italy
    Mol Cell Biol 19:2051-60. 1999
    ..The thyroid-specific transcription factor Pax8 binds at two of these sites...
  78. pmc Eya1 regulates the growth of otic epithelium and interacts with Pax2 during the development of all sensory areas in the inner ear
    Dan Zou
    McLaughlin Research Institute for Biomedical Sciences, 1520 23rd Street South, MT 59405, USA
    Dev Biol 298:430-41. 2006
    ..with Eya1 or Six1 during inner ear morphogenesis, we have analyzed the expression pattern of Eya1, Pax2 and Pax8 on adjacent sections of otic epithelium from E8.5 to 9...
  79. ncbi Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetus
    Gabor Szinnai
    Faculty of Medicine René Descartes, Paris V, Site Necker, Institut National de la Santé et de la Recherche Médicale Equipe Mixte 0363, Pediatric Endocrine Unit, Assistance Publique Hopitaux de Paris AP HP, Hopital Necker Enfants Malades, Paris, France
    J Clin Endocrinol Metab 92:70-6. 2007
    ..Terminal differentiation of the human thyroid is characterized by the onset of follicle formation and thyroid hormone synthesis at 11 gestational weeks (GW)...
  80. ncbi Pax2 and pax8 regulate branching morphogenesis and nephron differentiation in the developing kidney
    Melina Narlis
    McGill Cancer Centre and Biochemistry Department, McGill University, 3655 Promenade Sir William Osler, Montreal, Quebec H3G 1Y6, Canada
    J Am Soc Nephrol 18:1121-9. 2007
    ..this later function, kidney development was analyzed in embryos that were compound heterozygous for Pax2 and for Pax8, a closely related member of the Pax gene family...
  81. pmc Effects of increased renal tubular vascular endothelial growth factor (VEGF) on fibrosis, cyst formation, and glomerular disease
    Samy Hakroush
    Centrum für Biomedizin und Medizintechnik Mannheim, University of Heidelberg, Germany
    Am J Pathol 175:1883-95. 2009
    ..We studied a new conditional transgenic mouse system [Pax8-rtTA/(tetO)(7)VEGF], which allows increased tubular VEGF production in adult mice...
  82. doi Endosalpingiosis in axillary lymph nodes: a possible pitfall in the staging of patients with breast carcinoma
    Adriana D Corben
    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
    Am J Surg Pathol 34:1211-6. 2010
    ..The epithelium demonstrated positive nuclear immunoreactivity for WT1 and PAX8, and was devoid of myoepithelium or basement membrane...
  83. ncbi Perspective: genetic defects in the etiology of congenital hypothyroidism
    Peter Kopp
    Division of Endocrinology, Metabolism and Molecular Medicine, Northwestern University, Chicago, Illinois 60611, USA
    Endocrinology 143:2019-24. 2002
    ..known to date only explain a minority of these cases and include mutations in the paired box transcription factor PAX8, and the thyroid transcription factors TTF1 and TTF2...
  84. ncbi [Genetic causes of the thyroid carcinomas]
    S Jindrichova
    Endokrinologický ustav oddĕlení molekulární endokrinologie, Praha
    Cas Lek Cesk 143:664-8. 2004
    ..They can activate these kinases and induce mutation in BRAF gene. The presence of PAX8/PPARgamma fused gene and ras mutations are important in the development of follicular thyroid carcinoma...
  85. ncbi Male congenital hypothyroid Pax8-/- mice are infertile despite adequate treatment with thyroid hormone
    Joachim Wistuba
    Institute of Reproductive Medicine of the University, Domagkstr 11, 48149 Munster, Germany
    J Endocrinol 192:99-109. 2007
    ..In this study, Pax8(-/-) mice that are born without a thyroid gland were used as an animal model to study the consequences of ..
  86. doi Gbetagamma dimers released in response to thyrotropin activate phosphoinositide 3-kinase and regulate gene expression in thyroid cells
    Miguel A Zaballos
    Instituto de Investigaciones Biomedicas Alberto Sols, Consejo Superior de Investigaciones Cientificas, Universidad Autonoma de Madrid, 28029 Madrid, Spain
    Mol Endocrinol 22:1183-99. 2008
    ..the thyroid cell, including transcription of the sodium-iodide symporter (NIS) gene through a mechanism involving Pax8 binding to the NIS promoter...
  87. doi Do benign thyroid nodules have malignant potential? An evidence-based review
    Nimmi Arora
    Department of Surgery, New York Presbyterian Hospital Cornell University, 1300 York Avenue, New York, NY 10065, USA
    World J Surg 32:1237-46. 2008
    ..This is true at least in part because of uncertainty over whether some benign nodules harbor malignant potential...
  88. pmc Notch signaling augments the canonical Wnt pathway to specify the size of the otic placode
    Chathurani S Jayasena
    Gonda Department of Cell and Molecular Biology, House Ear Institute, 2100 West 3rd Street, Los Angeles, CA 90057, USA
    Development 135:2251-61. 2008
    ..mutations in the Notch and Wnt pathways reveal that some aspects of otic placode development - such as Pax8 expression and the morphological thickening of the placode - can be regulated independently by either Notch or Wnt ..
  89. pmc Thyrotropin-independent induction of thyroid endoderm from embryonic stem cells by activin A
    Risheng Ma
    Thyroid Research Unit, Mount Sinai School of Medicine, James J Peters Veterans Affairs Medical Center, New York, New York 10468, USA
    Endocrinology 150:1970-5. 2009
    ..isolated by the fluorescence-activated cell sorter simultaneously expressed not only TSHR and NIS proteins but also PAX8 mRNA, an expression pattern unique to thyroid cells and expected in committed thyroid progenitor cells...
  90. ncbi Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis
    A M Ferrara
    Department of Molecular and Clinical Endocrinology and Oncology, University of Naples Federico II, Naples, Italy
    J Endocrinol Invest 32:238-41. 2009
    ..1, PAX8, FOXE1, and NKX2.5) have been associated with the disease...
  91. ncbi Wnt-6 is expressed in the ureter bud and induces kidney tubule development in vitro
    Petri Itäranta
    Biocenter Oulu, Department of Biochemistry, University of Oulu, Linnanmaa 90570 Oulu, Finland
    Genesis 32:259-68. 2002
    ..Wnt-6 cells induce tubules with similar kinetics to spinal cord (SPC) and lead to induced expression of Pax2, Pax8, Sfrp2, and E-cadherin genes, early markers of tubulogenesis...
  92. ncbi TAZ interacts with TTF-1 and regulates expression of surfactant protein-C
    Kwon Sik Park
    Division of Pulmonary Biology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
    J Biol Chem 279:17384-90. 2004
    ..TAZ binds to TTF-1, increasing the transcriptional activity of TTF-1 on the SP-C promoter. Developmental and cell-selective regulation of TAZ provides a mechanism by which the activity of TTF-1 on target genes is modulated...
  93. ncbi Unusual thyroid tumors: a review of pathologic and molecular diagnosis
    Jennifer L Hunt
    University of Pittsburgh Medical Center, Department of Pathology, 200 Lothrop Street, Pittsburgh, PA 15213, USA
    Expert Rev Mol Diagn 5:725-34. 2005
    ..be diagnostically useful or explain, in part, their pathogenesis, including the well-known Ret/PTC and PPARgamma-PAX8 translocations, point mutations in the Ret, Ras and BRAF genes, and loss of heterozygosity of multiple different ..
  94. ncbi [Thyroid transcription factors involved in the thyroid hormones biosynthesis]
    Michał Ambroziak
    Zakład Biochemii Klinicznej, Centrum Medyczne Kształcenia Podyplomowego, Warszawa
    Postepy Biochem 51:288-96. 2005
    ..Three thyroid transcription factors Titf1/Nkx2-1, Foxel and Pax8 seem to be essential for thyroid development, growth and function...
  95. ncbi PAX8 expression in human bladder cancer
    Lucia Pellizzari
    Istituto di Genetica, Policlinico Universitario di Udine, Napoli, Italy
    Oncol Rep 16:1015-20. 2006
    b>PAX8 is a transcription factor with a role in ontogenesis of the urinary tract. The aim of the present investigation was to investigate PAX8 expression in normal bladder and in non-invasive urothelial tumours...
  96. ncbi Six1 and Six4 are essential for Gdnf expression in the metanephric mesenchyme and ureteric bud formation, while Six1 deficiency alone causes mesonephric-tubule defects
    Hiroki Kobayashi
    Division of Integrative Cell Biology, Institute of Molecular Embryology and Genetics, Kumamoto University, 2 2 1 Honjo, Kumamoto 860 0811, Japan
    Mech Dev 124:290-303. 2007
    ..Six1/Six4-deficient metanephric mesenchyme cells were directed toward kidney lineage but failed to express Pax2, Pax8, or Gdnf, whereas the expression of these genes was partially reduced or unchanged in the case of Six1 deficiency...
  97. pmc Deletion of the RNaseIII enzyme dicer in thyroid follicular cells causes hypothyroidism with signs of neoplastic alterations
    Wendy Rodriguez
    Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire I R I B H M, Faculte de Medecine, Universite Libre de Bruxelles ULB, Brussels, Belgium
    PLoS ONE 7:e29929. 2012
    ..of follicular cells and an ongoing de-differentiation in the center of the thyroid gland, with a loss of Pax8, FoxE1, Nis and Tpo expression...
  98. doi Nephrogenic adenoma of the urinary tract: a review
    Borislav A Alexiev
    Department of Pathology, University of Maryland Medical Center, Baltimore, MD 21201, USA
    Int J Surg Pathol 20:123-31. 2012
    ..Immunohistochemical studies with antibodies targeting members of the paired box gene family (PAX2 and/or PAX8) in NAs may be helpful in the differential diagnosis of urothelial lesions and prostatic adenocarcinoma...
  99. doi Protein gene product 9.5 is diagnostically helpful in delineating high-grade renal cell cancer involving the renal medullary/sinus region from invasive urothelial cell carcinoma of the renal pelvis
    Sven Gunia
    Department of Pathology, Johanniter Hospital Stendal, 39576 Stendal, Germany
    Hum Pathol 44:712-7. 2013
    ..5, CD10, vimentin, CEA, p63, CK5/6, CK7, CK20, PAX2, PAX8, CD117 (c-Kit), AE1/3, α-methyl CoA racemase, actin, and desmin. Briefly, strong protein gene product 9...
  100. doi Significant variation of immunohistochemical marker expression in paired primary and metastatic clear cell renal cell carcinomas
    Zenggang Pan
    Department of Pathology, University of Colorado Medical Center, Aurora, CO, USA
    Am J Clin Pathol 140:410-8. 2013
    ..To compare the immunohistochemical expression of diagnostic markers in primary clear cell renal cell carcinomas (RCCs) and their matched metastases...
  101. doi Peripheral hemangioblastoma: clinicopathologic characterization in a series of 22 cases
    Leona A Doyle
    Department of Pathology, Brigham and Women s Hospital Department of Pathology, Harvard Medical School, Boston, MA
    Am J Surg Pathol 38:119-27. 2014
    ..in 65% (13/20); they also expressed GLUT1 (7/10, mostly weak), SMA (4/5), epithelial membrane antigen (2/8, focal), PAX8 (1/10), and desmin (1/4). Brachyury was consistently negative (0/19), as were keratin, HMB-45, melan-A, and GFAP...

Research Grants18

  1. RONALD JAY KOENIG; Fiscal Year: 2014
    ..transcriptional activity, metabolic effects and tumorigenicity of a unique nuclear receptor transcription factor, PAX8-PPARg Fusion Protein (PPFP) that is produced as a consequence of a chromosomal translocation in follicular thyroid ..
  2. RONALD JAY KOENIG; Fiscal Year: 2016
    ..Approximately 35% of follicular thyroid carcinomas harbor a chromosomal translocation that fuses paired box gene 8 (PAX8) with the peroxisome proliferator-activated receptor gamma gene (PPARG), resulting in production of a PAX8-PPARG ..
  3. Is thyroxine more than a prohormone?
    Valerie Anne Galton; Fiscal Year: 2013
    ..We plan to test this hypothesis using our newly created D1/D2KO/Pax8-/- mouse, which can neither synthesize TH, nor convert administered T4 to T3...
  4. Neil A Hukriede; Fiscal Year: 2015
    ..Aim 2: We will determine the importance of Pax2/Pax8 and Lhx1 during normal kidney organogenesis and during the regenerative response by performing loss-of-function and ..
  5. Discovering modulators of PAX8 for targeting ovarian cancer
    William C Hahn; Fiscal Year: 2013
    ..lines coupled with the comprehensive characterization of ovarian cancer genomes pinpointed the expression of the PAX8 transcription factor as a critical vulnerability of the majority of ovarian tumors...
  6. Factors Regulating Inner Ear Specification
    Jean Pierre Saint Jeannet; Fiscal Year: 2010
    ..In this tissue, Sox9 expression is regulated by Fgf and Wnt signaling and co-localizes with Pax8, one of the earliest gene expressed in response to otic placode inducing signals...
  7. THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERS
    Samuel Refetoff; Fiscal Year: 2005
    ..large families with dominantly inherited RTSH, in which the involvement of 5 other candidate genes (TSH receptor, Pax8, TTF-1, TTF-2 and GSa) has been ruled out, will be analyzed by genome-wide screening...
  8. TUMOR SUPPRESSORS AND DIFFERENTIATED THYROID CANCER
    NORMAN EBERHARDT; Fiscal Year: 2008
    ..This rearrangement involves a t(2;3)(q 13;p25) translocation, which fuses the thyroid specific transcription factor pax8 gene (chromosome 2) and the PPARgamma receptor gene (chromosome 3), resulting in the expression of a fusion protein,..
  9. STRUCTURE/FUNCTION OF GROWTH HORMONE RELATED GENE
    NORMAN EBERHARDT; Fiscal Year: 2002
    ..The chromosomal TEF-P locus will be cloned and characterized, including chromosomal localization and promoter characterization (Aim 3). ..
  10. INTRACELLULAR AMYLOIDOGENESIS AND APOPTOSIS IN NIDDM
    NORMAN EBERHARDT; Fiscal Year: 2006
    ..These studies will increase our understanding of the contribution of intracellular amyloid accumulation, induction of apoptosis, and/or interference with ER trafficking to the pathogenesis of NIDDM. ..
  11. Post-transcriptional regulation of gene expression by thyroid hormone receptors
    Bin Xu; Fiscal Year: 2008
    ..The findings of TR targeted mRNAs will reveal novel functions of TR to regulate gene expression at post-transcriptional levels related to the brain function and neurodevelopment.. [unreadable] [unreadable]..
  12. Studies of a Novel Therapeutic Target in Non-Small Cell Lung Cancer (NSCLC)
    Ravi Salgia; Fiscal Year: 2011
    ..Conduct an anti-c-Met phase I/I I clinical trial against NSCLC. Through the achievement of the goals proposed in these specific aims, we will arrive at novel therapy against c- Met in lung cancer. ..
  13. DISSECTING THE EAR NEUROSENSORY DEVELOPMENT.
    Bernd Fritzsch; Fiscal Year: 2010
    ..Such information is crucial to govern the use of neurotrophins for regeneration, plasticity and maintenance of adult innervation. ..
  14. DEVELOPMENTAL MECHANISMS OF HOXA5 SPATIAL REGULATION
    Lucie Jeannotte; Fiscal Year: 2003
    ..Completion of these aims will provide critical information required for elucidating the pathway controlling Hoxa5 expression, information useful to develop a detailed understanding of regional patterning during development. ..
  15. Nuclear cofactors in Human Thyroid Disease
    Roy Weiss; Fiscal Year: 2007
    ..3) Determine the cause for hypersensitivity to TH. This will allow clinicians to better identify factors influencing thyroid function. ..
  16. TGF Beta receptor biology in human renal cell carcinoma
    JOHN COPLAND; Fiscal Year: 2009
    ..Completion of these studies will define the role of TbetaR3 loss in RCC carcinogenesis, the function of TbetaR3 in normal renal biology and carcinogenesis, and the mechanism of regulation of TbetaR3 in RCC biology. ..
  17. Function and structure of pendrin in thyroid cells
    Peter Kopp; Fiscal Year: 2007
    ..These studies will provide fundamental insights into the (patho)physiology of this novel anion transporter that has important functions in the thyroid, the kidney and the inner ear. ..
  18. Thyroid Hormone Receptor Isoforms & Coactivators In Vivo
    Roy Weiss; Fiscal Year: 2005
    ..Such information would generate important leads in understanding the specific mechanistic aspects of TH action. ..