The gene for human fibronectin glomerulopathy maps to 1q32, in the region of the regulation of complement activation gene cluster
Article Abstract:
Human fibronectin glomerulopathy (GFND), a newly recognized autosomal dominant kidney disease of unknown cause characterized histologically by massive amounts of fibronectin in the subendothelial spaces of renal glomerular capillaries, is discussed. It has been mapped to 1q32, in the region of the regulation of complement activation gene cluster through a total-genome search for linkage using a 193-member, 5-generation pedigree with 13 affected persons.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)
Article Abstract:
A study was conducted to determine the involvement of transcriptional control of SLC26A4 in Pendred syndrome. It is shown that the transcriptional control of SLC26A4 expression involves a key cis-regulatory element in the SLC26A4 promoter and its associated transcription factor FOXI1 both of which play a role in the pathogenesis of Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
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