TIMP-1 expression is increased in X-linked progressive retinal atrophy despite its exclusion as a candidate gene

X-linked progressive retinal atrophy ( XLPRA) is the only known natural animal model for X-linked retinitis pigmentosa ( XLRP), a blinding disorder in man. The tissue inhibitor metalloproteinase 1 gene ( TIMP-1), present in close proximity to one of the two XLRP loci, was tested as a candidate for X...

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Veröffentlicht in:	Gene 1998-12, Vol.225 (1), p.67-75
Hauptverfasser:	Zeiss, Caroline J, Acland, Gregory M, Aguirre, Gustavo D, Kunal Ray
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence amino acid sequences Animal model Animals Base Sequence cattle Cloning complementary DNA degeneration DNA - chemistry DNA - genetics DNA, Complementary - chemistry DNA, Complementary - genetics Dog Dog Diseases - genetics Dogs Exons Female genbank/af079767 Gene Expression Genes - genetics Genetic Linkage genetic polymorphism humans intragenic polymorphism Introns Male metalloproteinases mice Molecular Sequence Data nucleotide sequences Pedigree promoter regions retina Retina - metabolism Retina - pathology retinal atrophy Retinal degeneration Retinal Degeneration - genetics Retinal expression Reverse Transcriptase Polymerase Chain Reaction RFLP RNA - genetics RNA - metabolism RP, semi-quantitative RT-PCR segregation Sequence Homology, Amino Acid Sequence Homology, Nucleic Acid sex linkage species differences structural genes Tissue Distribution Tissue Inhibitor of Metalloproteinase-1 - genetics X Chromosome - genetics X-linked inheritance
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