|
Choroideremia
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Choroideremia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Choroideremia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Choroideremia
|
1.000 |
Biomarker
|
disease |
HPO |
|
|
|
|
Choroideremia
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Using various probes from the Xq21 region which is known to carry the choroideremia (tapetochoroideal dystrophy, TCD) locus, we have screened the DNAs from eight unrelated male choroidermia patients for microdeletions.
|
3481306 |
1987 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
By Southern blot analysis we have mapped ten different polymorphic DNA loci relative to the position of the deletion and the choroideremia locus TCD.
|
3422216 |
1988 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In order to characterize a previously described submicroscopic deletion encompassing (part of) the choroideremia (tapetochoroidal dystrophy: TCD) gene, we have cloned a 10.5-kb EcoRI fragment from the patient's DNA; this fragment carries the junction between both deletion endpoints ("junction fragment").
|
1979308 |
1990 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Aberrant splicing of the CHM gene is a significant cause of choroideremia.
|
1302003 |
1992 |
|
Choroideremia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Aberrant splicing of the CHM gene is a significant cause of choroideremia.
|
1302003 |
1992 |
|
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
We suggest that REP-2 substitutes for the absent function of REP-1 in nonretinal cells of patients with choroideremia, thus preventing cellular dysfunction throughout the body.
|
8294464 |
1994 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, all CHM gene mutations detected thus far in choroideremia patients give rise to the introduction of a premature stop codon.
|
7981671 |
1994 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutation in the choroideremia gene.
|
7951216 |
1994 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cloning of the 5' end of the CHM gene and the elucidation of its intron-exon structure enabled us to localize the X-chromosomal breakpoint in a CHM female with an X;7 translocation between exons 3 and 4.
|
7981670 |
1994 |
|
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
The variation of the clinical phenotype among family members carrying the same mutation indicates that the severity of choroideremia is not solely a function of the CHM gene.
|
8749050 |
1995 |
|
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Using recombinant Rab geranylgeranyl transferase and REPs to label unprenylated cytosolic proteins, we identified one unprenylated protein in choroideremia lymphoblasts that was prenylated in vitro more efficiently by REP-1 than by REP-2.
|
7592656 |
1995 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two females suffering from CHM were reported to have translocations that disrupt the REP-1 gene.
|
9067750 |
1997 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the CHM gene in a Japanese patient with choroideremia associated with pinealoma.
|
9349950 |
1997 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To characterize the effect on mRNA splicing of a yet undescribed mutation located in intron 13 splice-donor sequence (IVS13 + 3A --> C) in the Rab-Escort-protein 1 gene of a patient with choroideremia.
|
9678418 |
1998 |
|
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
The authors also showed the absence of REP-1 in the peripheral leukocytes of males affected with CHM.
|
9754170 |
1998 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
REP-1 gene mutations in Japanese patients with choroideremia.
|
10447648 |
1999 |
|
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
A number of mutations involving the gene that codes for Rab escort protein-1 (REP-1) have been detected in CHM patients.
|
10420196 |
1999 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The virtual absence of any missense mutation found to be responsible for choroideremia makes the RT-PCR-based protein truncation test the most relevant genotypic diagnostic procedure for identifying mutations in the CHM gene.
|
10420193 |
1999 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we performed extensive analysis of the REP-1 gene in patients with CHM from several institutions in Japan.
|
10447648 |
1999 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutational analysis of patients with the diagnosis of choroideremia.
|
12203991 |
2002 |