|
Leber Congenital Amaurosis
|
0.630 |
GermlineCausalMutation
|
disease |
ORPHANET |
The coding sequence and flanking intron/exon junctions of IMPDH1 were analyzed in 203 patients with autosomal dominant RP (adRP), 55 patients with autosomal recessive RP (arRP), 7 patients with isolated RP, 17 patients with macular degeneration (MD), and 24 patients with Leber congenital amaurosis (LCA).
|
16384941 |
2006 |
|
Leber Congenital Amaurosis
|
0.630 |
GermlineCausalMutation
|
disease |
ORPHANET |
Review and update on the molecular basis of Leber congenital amaurosis.
|
25685757 |
2015 |
|
Retinitis Pigmentosa 10
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
LEBER CONGENITAL AMAUROSIS 11
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Retinal Diseases
|
0.020 |
AlteredExpression
|
group |
BEFREE |
First, we show that while recombinant adeno-associated viral (AAV)-mediated expression of mutant human IMPDH1 protein in the mouse retina results in an aggressive retinopathy modelling the human counterpart, expression of a normal human IMPDH1 gene under similar conditions has no observable pathological effect on retinal function, indicating that over-expression of a therapeutic replacement gene may be relatively well tolerated.
|
18385099 |
2008 |
|
Diabetes
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Area under the effect curve values for gene expression: IMPDH1 [ND: 22.1 (13.8-31.3) versus D: 4.5 (2.3-6.5), P < 0.001] and IMPDH2 [ND: 15.3 (11.0-21.7) versus D: 6.1 (4.6-8.6), P < 0.001], protein level: IMPDHI [ND: 1.0 (0.5-1.3) versus 0.5 (0.4-0.7), P = 0.002] and IMPDHII [ND: 1.0 (0.6-1.6) versus D: 0.7 (0.6-0.8) P < 0.001] and enzyme activity [ND: 180 (105-245) versus D: 29.9 (15.3-35.6) µmole·s(-1)·mole(-1) adenosine monophosphate, P < 0.001] was significantly lower in transplant recipients with diabetes.
|
23666569 |
2013 |
|
Diabetes Mellitus
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Area under the effect curve values for gene expression: IMPDH1 [ND: 22.1 (13.8-31.3) versus D: 4.5 (2.3-6.5), P < 0.001] and IMPDH2 [ND: 15.3 (11.0-21.7) versus D: 6.1 (4.6-8.6), P < 0.001], protein level: IMPDHI [ND: 1.0 (0.5-1.3) versus 0.5 (0.4-0.7), P = 0.002] and IMPDHII [ND: 1.0 (0.6-1.6) versus D: 0.7 (0.6-0.8) P < 0.001] and enzyme activity [ND: 180 (105-245) versus D: 29.9 (15.3-35.6) µmole·s(-1)·mole(-1) adenosine monophosphate, P < 0.001] was significantly lower in transplant recipients with diabetes.
|
23666569 |
2013 |
|
Retinitis Pigmentosa 10
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Retinitis Pigmentosa 10
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Retinitis Pigmentosa
|
0.700 |
Biomarker
|
disease |
BEFREE |
Towards a pathological mechanism for IMPDH1-linked retinitis pigmentosa.
|
22183375 |
2012 |
|
Retinitis Pigmentosa
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
|
Retinitis Pigmentosa
|
0.700 |
Biomarker
|
disease |
CTD_human |
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 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
LEBER CONGENITAL AMAUROSIS 11
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
LEBER CONGENITAL AMAUROSIS 11
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Leber Congenital Amaurosis
|
0.630 |
Biomarker
|
disease |
CTD_human |
The coding sequence and flanking intron/exon junctions of IMPDH1 were analyzed in 203 patients with autosomal dominant RP (adRP), 55 patients with autosomal recessive RP (arRP), 7 patients with isolated RP, 17 patients with macular degeneration (MD), and 24 patients with Leber congenital amaurosis (LCA).
|
16384941 |
2006 |
|
Leber Congenital Amaurosis
|
0.630 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
Congenital Amaurosis of Retinal Origin
|
0.300 |
Biomarker
|
disease |
CTD_human |
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
|
16384941 |
2006 |