|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In addition, analysis of cloned DNA segments from within the SMA candidate region has identified the presence of a novel, chromosome 5-specific, low copy repeated sequence which is distributed throughout the region containing the SMA gene as well as in at least four other regions of chromosome 5.
|
8401498 |
1993 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we report linkage analyses in 64 SMA families with nine polymorphic markers closely linked to the SMA gene, which allowed us to narrow the SMA region to about 4 cM and to define a new proximal genetic border by the locus D5S125 (EF(TG/AG)n. Based on haplotype analysis and specific recombination events, the following order of the loci was determined: 5cen-D5S76-D5S6-D5S125-SMA-(5'MAP-1B-3'MAP- 1B)/D5S112-JK53CA1/2-(D5S39-D5S127)-5qter.
|
8432521 |
1993 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
The interval containing the SMA gene has been defined by linkage analysis as 5qcen-D5S435-SMA-D5S557-5qter.
|
8088834 |
1994 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
The SMN gene is homozygously deleted for both exons 7 and 8 or exon 7 only in 96% of type I SMA, 94% of type II SMA and 82% of type III SMA as well as in 0.3% of SMA parents.
|
8595417 |
1995 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
In both cases the patients were homozygously deleted for the survival motor neuron (SMN) gene (exons 7 and 8) but only the type I SMA patient was deleted for the neuronal apoptosis inhibitory protein (NAIP) gene (exons 5 and 6).
|
7581364 |
1995 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that this gene, termed the survival motor neuron (SMN) gene, is an SMA-determining gene.
|
7813012 |
1995 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This observation gives strong support to the view that mutations of the SMN gene are responsible for the SMA phenotype as it is the first frameshift mutation reported in SMA.
|
7581461 |
1995 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our results confirm the variability in the number of NAIP signals in non-SMA chromosomes (2-6) and show that SMN is present on average twice per chromosome although in one chromosome 4-5 signals for the SMN-containing cosmid probe were detected.
|
9067434 |
1996 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.
|
8808598 |
1996 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The homozygous deletions of exons 7 and 8 of the SMN gene were found in all SMA patients studied.
|
8882869 |
1996 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, a gene determining spinal muscular atrophy (SMA), termed survival motor neuron (SMN) gene, has been isolated from the 5q13 region.
|
8786072 |
1996 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
In addition, these findings are compatible with a modifying role for the centromeric SMN genes and the NAIP genes in the severity of the SMA phenotype.
|
8957014 |
1996 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified one type I SMA patient with an 11 bp duplication in exon 6 which causes a frameshift and premature termination of the deduced SMNT protein.
|
8922999 |
1996 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
These data suggest that, in these three families at least, the SMA phenotype is caused or influenced by another gene(s) additional to SMN.
|
8887955 |
1996 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Prenatal prediction of spinal muscular atrophy. Experience with linkage studies and consequences of present SMN deletion analysis.
|
8875190 |
1996 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, a spinal muscular atrophy (SMA) determining gene, termed survival motor neuron (SMN) gene, has been isolated from the 5q13 region and found deleted in most patients.
|
8968751 |
1996 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although deletions or mutations in the SMNT gene are most highly correlated with SMA, it is not clear to what extent NAIP or other genes influence the SMA phenotype, or whether a small fraction of SMA patients actually have functional copies of both SMNT and NAIP.
|
8852661 |
1996 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Absence or interruption of the SMN gene in the AMC-SMA association will make the diagnosis easier and genetic counselling will now become feasible.
|
8787675 |
1996 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Two candidate genes (NAIP and SMN) have recently been reported for childhood onset spinal muscular atrophy (SMA).
|
8929942 |
1996 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Seven index patients being not deleted for the SMN gene who belonged to a well-defined SMA plus variant that has already been shown to be unlinked with chromosome 5q markers: diaphragmatic SMA, SMA plus olivopontocerebellar hypoplasia, SMA with congenital arthrogryposis and bone fractures.2.
|
8677029 |
1996 |
|
Spinal Muscular Atrophy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Our results indicate that an absent or decreased anti-apoptotic activity of SMN in concert with Bcl-2 underlies the pathogenesis of SMA.
|
9389483 |
1997 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Linkage studies, as well as the analysis of the SMN gene, recognised that SMA variants (with severe arthogryposis or cerebellar or diaphragmatic involvement) are not linked to chromosome 5q markers.
|
9185186 |
1997 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
One of the responsible genes for SMA is the survival motor neuron (SMN) gene, which is homozygously absent or interrupted in more than 90% of SMA patients.
|
9153454 |
1997 |