Retinitis Pigmentosa 10
|
0.720 |
Biomarker
|
disease |
BEFREE |
We show that AAV-mediated co-expression in the murine retina of a mutant human IMPDH1 gene together with short hairpin RNAs (shRNA) validated in vitro and in vivo, targeting both human and mouse IMPDH1, substantially suppresses the negative pathological effects of mutant IMPDH1, at a point where, in the absence of shRNA, expression of mutant protein in the RP10 model essentially ablates all photoreceptors in transfected areas of the retina.
|
18385099 |
2008 |
Retinitis Pigmentosa 10
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
|
16384941 |
2006 |
Retinitis Pigmentosa 10
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency.
|
16671097 |
2006 |
Retinitis Pigmentosa 10
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.
|
11875050 |
2002 |
Retinitis Pigmentosa 10
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice.
|
11875049 |
2002 |
Retinitis Pigmentosa 10
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Retinitis Pigmentosa 10
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Retinitis Pigmentosa 10
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Retinitis Pigmentosa 10
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the retinal inosine monophosphate dehydrogenase1 (IMPDH1) gene is believed to be one cause of retinitis pigmentosa (RP).
|
31838626 |
2020 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We successfully identified causative mutations in patients from the Chinese families with RDS: the known mutation IMPDH1 c.942_944delGAA in a family with retinitis pigmentosa, the novel mutation ABCA4 c.1924T>A in a family with Stargardt disease, and the novel mutation NMNAT1 c.272A>G and known mutation NMNAT1 c.196C>T in a family with Leber congenital amaurosis.
|
24791140 |
2014 |
Retinitis Pigmentosa
|
0.700 |
Biomarker
|
disease |
BEFREE |
Towards a pathological mechanism for IMPDH1-linked retinitis pigmentosa.
|
22183375 |
2012 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Molecular recruitment as a basis for negative dominant inheritance? propagation of misfolding in oligomers of IMPDH1, the mutated enzyme in the RP10 form of retinitis pigmentosa.
|
21791244 |
2011 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
IMPDH1 mutations account for 2% of all adRP cases and are a rare cause of Leiber Congenital Amaurosis.
|
20238057 |
2010 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We show here, in a murine model of autosomal dominant RP (RP10) involving expression of an Arg224Pro mutation within the IMPDH1 gene, that treatment with the low-molecular-weight drug, 17-allylamino-17-demethoxygeldanamycin (17-AAG), an ansamycin antibiotic that binds to heat shock protein Hsp90, activating a heat shock response in mammalian cells, protects photoreceptors against degeneration induced by aggregating mutant IMPDH1 protein, systemic delivery of this low-molecular-weight drug to the retina being facilitated by RNA interference-mediated modulation of the inner-blood retina barrier.
|
20817636 |
2010 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
We screened RHO, PRPF31, RP1, and IMPDH1 and identified causative mutations in 4% of isolated and 2% of adRP patients from India.
|
18552984 |
2008 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We screened RHO, PRPF31, RP1, and IMPDH1 and identified causative mutations in 4% of isolated and 2% of adRP patients from India.
|
18552984 |
2008 |
Retinitis Pigmentosa
|
0.700 |
Biomarker
|
disease |
CTD_human |
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
|
16384941 |
2006 |
LEBER CONGENITAL AMAUROSIS 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
|
16384941 |
2006 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Aiming towards an understanding of the molecular background of retinitis pigmentosa, this paper describes the phenotype of a Swedish family with a mutation in IMPDH1.
|
16272056 |
2005 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa.
|
16038673 |
2005 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
|
15851576 |
2005 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa.
|
15465556 |
2004 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice.
|
11875049 |
2002 |
Retinitis Pigmentosa
|
0.700 |
Biomarker
|
disease |
BEFREE |
Since many of the genes known to cause retinitis pigmentosa are under CRX control in photoreceptors, IMPDH1 became a high-priority candidate for mutation screening.
|
11875050 |
2002 |