Paired box protein Pax-8
The PAX8 gene encodes a transcription factor which is important in organogenesis. Mutations cause aurosomal dominant congenital nongoitrous hypothyroidism 2.
Genetests:
Related Diseases:
References:
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Pilz AJ et al. (1993) Mapping of the human homologs of the murine paired-box-containing genes.
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Trueba SS et al. (2005) PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations.
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Cheung L et al. (2003) Detection of the PAX8-PPAR gamma fusion oncogene in both follicular thyroid carcinomas and adenomas.
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Bouchard M et al. (2002) Nephric lineage specification by Pax2 and Pax8.
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Fan Y et al. (2002) Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions.
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Tell G et al. (1999) Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism.
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7. |
Mansouri A et al. (1999) Role of Genes in Endoderm-derived Organs.
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8. |
Mansouri A et al. (1998) Follicular cells of the thyroid gland require Pax8 gene function.
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9. |
Torban E et al. (1997) F329L polymorphism in the human PAX8 gene.
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10. |
Koseki H et al. (1993) Fine genetic mapping of the proximal part of mouse chromosome 2 excludes Pax-8 as a candidate gene for Danforth's short tail (Sd).
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Plachov D et al. (1990) Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland.
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Walther C et al. (1991) Pax: a murine multigene family of paired box-containing genes.
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13. |
Kroll TG et al. (2000) PAX8-PPARgamma1 fusion oncogene in human thyroid carcinoma [corrected].
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14. |
Congdon T et al. (2001) A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.
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15. |
Vilain C et al. (2001) Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.
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16. |
Macchia PE et al. (1998) PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.
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Grasberger H et al. (2005) Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity.
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Meeus L et al. (2004) Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid.
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Dwight T et al. (2003) Involvement of the PAX8/peroxisome proliferator-activated receptor gamma rearrangement in follicular thyroid tumors.
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20. |
Stapleton P et al. (1993) Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.
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21. |
NCBI article
NCBI 7849
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OMIM.ORG article
Omim 167415
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Orphanet article
Orphanet ID 124103
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24. |
Wikipedia article
Wikipedia EN (PAX8)
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Update: Aug. 14, 2020