|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SMN could affect several molecular processes, among which aberrant pre-mRNA splicing caused by defective snRNP biogenesis is hypothesized as a major cause of SMA.
|
25483032 |
2014 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is caused by homozygous survival of motor neurons 1 (SMN1) gene deletions, leaving a duplicate gene, SMN2, as the sole source of SMN protein.
|
20194437 |
2010 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The survival of motor neurons (SMN) gene, the SMA disease gene, is homozygously deleted or mutated in more than 98% of SMA patients.
|
10500148 |
1999 |
|
Spinal Muscular Atrophy
|
0.100 |
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
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In contrast, most chronic SMA patients have at least one SMA allele with either an intragenic SMN(T) deletion or a SMN(C):SMN(T) chimeric gene which replaces the normal SMN(T) gene.
|
9295075 |
1997 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two almost identical SMN genes are present on 5q13: the SMN1 gene, which is the spinal muscular atrophy-determining gene, and the SMN2 gene.
|
21673580 |
2011 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Changes in NRG1 in C boutons were also investigated in mouse models of MN diseases: i.e., spinal muscular atrophy (SMNΔ7) and ALS (SOD1(G93A)).
|
24803543 |
2014 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal Muscular Atrophy (SMA) is caused by genetic mutations in the SMN1 gene, resulting in drastically reduced levels of Survival of Motor Neuron (SMN) protein.
|
30368521 |
2018 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The molecular analysis of the survival motor neuron (SMN) gene and several closely flanking polymorphic markers in an atypical pedigree with four patients suffering from spinal muscular atrophy (SMA) over two generations has raised new aspects concerning the etiology and the molecular spectrum of autosomal recessive SMA.
|
9341891 |
1997 |
|
Spinal Muscular Atrophy
|
0.100 |
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
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The neuromuscular disorder spinal muscular atrophy (SMA), the most common inherited killer of infants, is caused by insufficient expression of survival motor neuron (SMN) protein.
|
28017471 |
2017 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is caused by homozygous mutation or deletion of the SMN1 gene encoding survival of motor neuron (SMN) protein, resulting in the selective loss of alpha-motor neurons.
|
19535574 |
2009 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is primarily a neurodegenerative disease caused by the homozygous deletion of the survival motor neuron 1 (SMN1) gene, thereby reducing SMN protein expression.
|
29209912 |
2018 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A highly homologous centromeric copy of the SMN gene (SMNc) remains intact in SMA patients.
|
11147573 |
2000 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Exon 7 of the telSMN gene is homozygously absent in approximately 95% of SMA patients, whereas loss of cenSMN does not cause SMA.
|
9837824 |
1998 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SMA is cause by mutations in the survival motor neuron (SMN) gene.
|
19758605 |
2009 |
|
Spinal Muscular Atrophy
|
0.100 |
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
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In humans, the SMN gene is duplicated; SMA results from the loss of SMN1 but SMN2 remains intact.
|
19897588 |
2010 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal Muscular atrophy (SMA) Type I is a fatal autosomal recessive disease caused by homozygous deletion of telometric region of exon 7/8 of the SMN gene.
|
12768044 |
2003 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
It is possible that genes other than SMN and NAIP may be involved, while somatic mosaicism of SMN gene mutations could be implicated in the segmental nature of distal upper limb SMA.
|
11921836 |
2001 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The Survival Motor Neuron (SMN) gene shows deletions in the majority of patients with Spinal Muscular Atrophy (SMA), a disease of motor neuron degeneration.
|
9147655 |
1997 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Of extraordinary interest, the structural analysis highlights three SMN residues (Asp44, Glu134 and Gln136) with SMA-linked missense mutations, which cause disruptions of electrostatic interactions for Asp44, Glu134 and Gln136, and result in three functionally deficient SMA-linked SMN mutants, Asp44Val, Glu134Lys and Gln136Glu.
|
28570645 |
2017 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.
|
10339583 |
1999 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive childhood onset spinal muscular atrophy (SMA) is a leading cause of infant mortality caused by mutations in the survival motor neuron (SMN) gene.
|
10439956 |
1999 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This method was used not only to quantify the copy numbers of highly homogenous telomeric SMN (SMN1)/centromeric SMN genes in exons 7 and 8 but also to determine intragenic mutations in all nine exons for complete diagnosis of spinal muscular atrophy (SMA).
|
20564270 |
2010 |