Forkhead-Box-Protein I1
Das FOXI1-Gen kodiert einen Transkriptionsfaktor. Mutationen führen zu autosomal rezessiver Entwicklungsstörung des Innenohres mit vergrößertem vestibularem Aquädukt.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Pierrou S et al. (1994) Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending.
|
2. |
Larsson C et al. (1995) Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12).
|
3. |
Yang T et al. (2007) Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
|
4. |
Hulander M et al. (1998) The winged helix transcription factor Fkh10 is required for normal development of the inner ear.
|
5. |
Hulander M et al. (2003) Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice.
|
6. |
Blomqvist SR et al. (2004) Distal renal tubular acidosis in mice that lack the forkhead transcription factor Foxi1.
|
7. |
Blomqvist SR et al. (2006) Epididymal expression of the forkhead transcription factor Foxi1 is required for male fertility.
|
8. |
Montoro DT et al. (2018) A revised airway epithelial hierarchy includes CFTR-expressing ionocytes.
|
9. |
Plasschaert LW et al. (2018) A single-cell atlas of the airway epithelium reveals the CFTR-rich pulmonary ionocyte.
|
Update: 14. August 2020