Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Monocarboxylat-Transporter 8

Das SLC16A2-Gen kodiert den Membrantransporter für Schilddrüsenhormon. Bei Mutationen kommt es zur x-chromosomal dominanten Trijodthyronin-Resistenz, dem Allan-Herndon-Dudley-Syndrom.

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:

Allan-Herndon-Dudley-Syndrom
SLC16A2

Referenzen:

1.

Visser WE et. al. (2010) Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome.

[^]
2.

Lafrenière RG et. al. (1994) A novel transmembrane transporter encoded by the XPCT gene in Xq13.2.

[^]
3.

Passos-Bueno MR et. al. (1993) Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?

[^]
4.

Debrand E et. al. (1998) Cloning and localization of the murine Xpct gene: evidence for complex rearrangements during the evolution of the region around the Xist gene.

[^]
5.

Friesema EC et. al. (2003) Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter.

[^]
6.

Dumitrescu AM et. al. (2004) A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.

[^]
7.

Schwartz CE et. al. (2005) Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

[^]
8.

Maranduba CM et. al. (2006) Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter.

[^]
9.

Dumitrescu AM et. al. (2006) Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice.

[^]
10.

Trajkovic M et. al. (2007) Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8.

[^]
11.

Jansen J et. al. (2008) Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.

[^]
12.

Frints SG et. al. (2008) MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

[^]
13.

Roberts LM et. al. (2008) Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier.

[^]
14.

Wirth EK et. al. (2009) Neuronal 3',3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome.

[^]

 

 
Ihre Nachricht: