Nukleärer Faktor NFIA
Das NFIA-Gen kodiert einen Transkriptionsfaktor. Mutationen sind bei Fehlbildungen des Gehirns und des Urogenitalsystems gesehen worden.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Campbell CG et al. (2002) Interstitial microdeletion of chromosome 1p in two siblings.
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2. |
Shanske AL et al. (2004) Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation.
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3. |
Lu W et al. (2007) NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
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4. |
Rao A et al. (2014) An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.
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5. |
Nyboe D et al. (2015) Familial craniosynostosis associated with a microdeletion involving the NFIA gene.
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6. |
Negishi Y et al. (2015) Truncating mutation in NFIA causes brain malformation and urinary tract defects.
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7. |
Qian F et al. (1995) Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH.
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8. |
das Neves L et al. (1999) Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum.
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9. |
Nagase T et al. (2000) Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
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10. |
Gründer A et al. (2003) Genomic organization, splice products and mouse chromosomal localization of genes for transcription factor Nuclear Factor One.
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11. |
Deneen B et al. (2006) The transcription factor NFIA controls the onset of gliogenesis in the developing spinal cord.
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12. |
Rosa A et al. (2007) The interplay between the master transcription factor PU.1 and miR-424 regulates human monocyte/macrophage differentiation.
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13. |
NCBI article
NCBI 4774
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14. |
OMIM.ORG article
Omim 600727
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15. |
Orphanet article
Orphanet ID 409843
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Update: 14. August 2020