Dual-Oxidase 2
Das DUOX2-Gen kodiert ein wichtiges Enzym der Schilddrüsenhormonsynthese. Mutationen führen zu gestörter Schilddrüsenhormonproduktion mit Strumabildung, der autosomal rezessiven Thyroiddyshormonogenesis 6.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Moreno JC et al. (2002) Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.
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2. |
Vigone MC et al. (2005) Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.
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3. |
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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4. |
De Deken X et al. (2000) Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family.
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5. |
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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6. |
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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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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9. |
NCBI article
NCBI 50506
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10. |
OMIM.ORG article
Omim 606759
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11. |
Orphanet article
Orphanet ID 121233
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Update: 14. August 2020