[From gene to disease; the nail-patella syndrome and the LMX1B gene]
Publication year
2003Source
Nederlands Tijdschrift voor Geneeskunde, 147, 2, (2003), pp. 67-9ISSN
Publication type
Article / Letter to editor
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Organization
Human Genetics
Journal title
Nederlands Tijdschrift voor Geneeskunde
Volume
vol. 147
Issue
iss. 2
Page start
p. 67
Page end
p. 9
Subject
UMCN 5.1: Genetic defects of metabolismAbstract
Nail-patella syndrome (NPS) is an autosomal dominant hereditary disorder characterised by nail dysplasia, patellar apoplasia/hypoplasia, iliac horns, elbow dysplasia, and frequently primary open angle glaucoma and progressive nephropathy. The gene underlying NPS, LMX1B on chromosome 9q34.1, is a transcription factor involved in the normal dorsoventral patterning of the limb and normal development of the glomerular basement membrane in the kidney. Recent studies suggest a role for LMX1B in the regulation of collagen IV expression and in the transcriptional regulation of podocyte specification and differentiation. At present, no evidence for a correlation between the presence and severity of the clinical anomalies and the LMX1B genotype has been found.
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- Academic publications [245050]
- Faculty of Medical Sciences [93209]
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