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Center for Nephrology and Metabolic Disorders
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Forkhead box protein I1

The gene encodes a transcription factor. Mutations cause autosomal recessive enlargement of the vestibular aqueduct.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Enlarged vestibular aqueduct



Pierrou S et al. (1994) Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending.

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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).

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Yang T et al. (2007) Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).

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Hulander M et al. (1998) The winged helix transcription factor Fkh10 is required for normal development of the inner ear.

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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.

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Blomqvist SR et al. (2004) Distal renal tubular acidosis in mice that lack the forkhead transcription factor Foxi1.

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Blomqvist SR et al. (2006) Epididymal expression of the forkhead transcription factor Foxi1 is required for male fertility.

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Montoro DT et al. (2018) A revised airway epithelial hierarchy includes CFTR-expressing ionocytes.

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Plasschaert LW et al. (2018) A single-cell atlas of the airway epithelium reveals the CFTR-rich pulmonary ionocyte.

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Update: Aug. 14, 2020
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