Paired-box-Protein Pax-8

Pilz AJ et al. (1993) Mapping of the human homologs of the murine paired-box-containing genes.

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.

Cheung L et al. (2003) Detection of the PAX8-PPAR gamma fusion oncogene in both follicular thyroid carcinomas and adenomas.

Bouchard M et al. (2002) Nephric lineage specification by Pax2 and Pax8.

Fan Y et al. (2002) Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions.

Tell G et al. (1999) Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism.

Mansouri A et al. (1999) Role of Genes in Endoderm-derived Organs.

Mansouri A et al. (1998) Follicular cells of the thyroid gland require Pax8 gene function.

Torban E et al. (1997) F329L polymorphism in the human PAX8 gene.

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).

Plachov D et al. (1990) Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland.

Walther C et al. (1991) Pax: a murine multigene family of paired box-containing genes.

Kroll TG et al. (2000) PAX8-PPARgamma1 fusion oncogene in human thyroid carcinoma [corrected].

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.

Vilain C et al. (2001) Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.

Macchia PE et al. (1998) PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.

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.

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.

Dwight T et al. (2003) Involvement of the PAX8/peroxisome proliferator-activated receptor gamma rearrangement in follicular thyroid tumors.

Stapleton P et al. (1993) Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.

NCBI article

OMIM.ORG article

Orphanet article

Wikipedia Artikel