Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Paired-box-Protein Pax-8

Das PAX8-gen kodierte einen Transkriptionsfaktor, der eine wichtige Funktion in der Organgenese besitzt. Mutationen verusrsachen die autosomal dominate kongenitale Hypothyreose ohne Struma 2.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Kongenitale Hypothyreose ohne Struma 2
PAX8

Referenzen:

1.

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

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
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).

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

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

[^]
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.

[^]
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.

[^]
15.

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

[^]
16.

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

[^]
17.

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

[^]
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.

[^]
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.

[^]
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.

[^]

 

 
Ihre Nachricht: