Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Congenital nongoitrous hypothyroidism 2
PAX8

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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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6.

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

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7.

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

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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.

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

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10.

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

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11.

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

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12.

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

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13.

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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14.

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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15.

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

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16.

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

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17.

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

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18.

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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19.

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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20.

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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Update: Sept. 26, 2018