Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Dual-Oxidase 2

Das DUOX2-Gen kodiert ein wichtiges Enzym der Schilddrüsenhormonsynthese. Mutationen führen zu gestörter Schilddrüsenhormonproduktion mit Strumabildung, der autosomal rezessiven Thyroiddyshormonogenesis 6.

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:

Thyroiddyshormonogenesis 6
DUOX2

Referenzen:

1.

Dupuy C et. al. (1999) Purification of a novel flavoprotein involved in the thyroid NADPH oxidase. Cloning of the porcine and human cdnas.

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2.

De Deken X et. al. (2000) Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family.

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3.

Caillou B et. al. (2001) Expression of reduced nicotinamide adenine dinucleotide phosphate oxidase (ThoX, LNOX, Duox) genes and proteins in human thyroid tissues.

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4.

Lacroix L et. al. (2001) Expression of nicotinamide adenine dinucleotide phosphate oxidase flavoprotein DUOX genes and proteins in human papillary and follicular thyroid carcinomas.

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5.

Moreno JC et. al. (2002) Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.

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6.

Vigone MC et. al. (2005) Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.

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7.

Grasberger H et. al. (2006) Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent.

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8.

Niethammer P et. al. (2009) A tissue-scale gradient of hydrogen peroxide mediates rapid wound detection in zebrafish.

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