Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The 10 most common genes causing adRP (IMPDH1, KLHL7, NR2E3, PRPF3/RP18, PRPF31/RP11, PRPF8/RP13, PRPH2/RDS, RHO, RP1, and TOPORS) were chosen for PCR-based dideoxy sequencing, along with the two X-linked RP genes, RPGR and RP2.
|
23950152 |
2013 |
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The RP10 form of autosomal dominant retinitis pigmentosa (adRP) is caused by missense mutations within the gene encoding inosine 5'-monophosphate dehydrogenase type 1.
|
20238059 |
2010 |
Autosomal dominant retinitis pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10).
|
18385099 |
2008 |
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
|
16384941 |
2006 |
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in IMPDH1 cause the RP10 form of autosomal dominant retinitis pigmentosa (adRP) and are a rare cause of dominant Leber congenital amaurosis (LCA).
|
16936083 |
2006 |
Autosomal dominant retinitis pigmentosa
|
0.100 |
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 |
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that mutations of the IMPDH1 gene cause ADRP in the Japanese population.
|
16038673 |
2005 |
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two mutations of IMPDH1 (inosine 5'-monophosphate dehydrogenase type I), R224P and D226N, have recently been found to cause adRP (autosomal dominant retinitis pigmentosa).
|
15882147 |
2005 |
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
IMPDH1 mutations account for approximately 2% of cases of dominant RP in North America.
|
15851576 |
2005 |
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) have recently been discovered to cause a form of autosomal dominant retinitis pigmentosa (adRP).
|
16272056 |
2005 |
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.
|
16214101 |
2005 |
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa.
|
15465556 |
2004 |
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
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 |
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We identified two American families with the RP10 form of adRP by linkage mapping and used these families to reduce the linkage interval to 3.45 Mb between the flanking markers D7S686 and RP-STR8.
|
11875050 |
2002 |
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Single-strand conformational analysis and PCR product sequencing were used to screen members of one family previously mapped to the RP10 locus and 47 small unmapped families with autosomal dominant retinitis pigmentosa.
|
10706894 |
2000 |
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The RP10 locus for adRP on chromosome 7q was first mapped in a Spanish family; later, an unrelated American family was identified that also showed linkage to 7q.
|
8723719 |
1996 |
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These results confirm an earlier report of linkage to an adRP locus (RP10) in an unrelated family of Spanish origin and indicate that RP10 may be a significant gene for inherited retinal degeneration.
|
7814030 |
1995 |