Zinkfinger-Protein GLIS3
Das Zinkfinger-Protein GLIS3 ist ein Transkriptionsfaktor, der sowohl als Repressor, wie auch als Aktivator fungiert. Mutationen führen zu autosomal rezessivem neonatalem Diabetes mellitus mit angeborenem Hypothyreoidismus.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Taha D et al. (2003) Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?
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2. |
Senée V et al. (2006) Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.
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3. |
Dimitri P et al. (2011) Novel GLIS3 mutations demonstrate an extended multisystem phenotype.
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4. |
Dimitri P et al. (2015) Expanding the Clinical Spectrum Associated With GLIS3 Mutations.
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5. |
Kim YS et al. (2003) GLIS3, a novel member of the GLIS subfamily of Krüppel-like zinc finger proteins with repressor and activation functions.
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6. |
Beak JY et al. (2008) Functional analysis of the zinc finger and activation domains of Glis3 and mutant Glis3(NDH1).
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7. |
Kang HS et al. (2009) Glis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease.
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8. |
Orphanet article
Orphanet ID 165848
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9. |
NCBI article
NCBI 169792
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10. |
OMIM.ORG article
Omim 610192
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Update: 14. August 2020