Results 221 to 230 of about 12,639 (247)
Some of the next articles are maybe not open access.
A Duplex Allele-Specific Amplification PCR to Detect SMN1 Deletion
Genetic Testing and Molecular Biomarkers, 2009Spinal muscular atrophy (SMA), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron (SMN) gene identified and mapped to chromosome 5q13. SMN is present in two highly homologous copies (SMN1 and SMN2).
Patrícia de Campos, Pieri +6 more
openaire +2 more sources
Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR
Neuromuscular Disorders, 2020Spinal muscular atrophy (SMA) is caused by homozygous deletions of the SMN1 gene in approximately 95% of patients. The remaining 5% of patients with SMA retain at least one copy of the SMN1 gene carrying insertions, deletions, or point mutations. Although molecular genetic testing for most SMA patients is quite easy, diagnosing "nondeletion" SMA ...
Yan, Xu +10 more
openaire +2 more sources
Determination of SMN1 and SMN2 copy number using TaqMan™ technology
Human Mutation, 2003Infantile spinal muscular atrophy (SMA) is a neuromuscular disease caused by homozygous deletion of the SMN1 gene in more than 90% of patients. Identification of carriers for the SMN1 deletion is important for diagnostic purposes and for genetic counseling.
Thomas Eggermann
exaly +4 more sources
Neuromuscular Disorders, 2012
Abstract About 96% of SMA patients display biallelic loss (deletion or conversion) of the SMN1 gene, while remaining patients combine the deletion on one allele with an intragenic mutation on the other. The aim of the study described here was thus to identify point mutations in a group of 606 patients diagnosed for SMA with excluded biallelic loss ...
M. Jedrzejowska +5 more
openaire +1 more source
Abstract About 96% of SMA patients display biallelic loss (deletion or conversion) of the SMN1 gene, while remaining patients combine the deletion on one allele with an intragenic mutation on the other. The aim of the study described here was thus to identify point mutations in a group of 606 patients diagnosed for SMA with excluded biallelic loss ...
M. Jedrzejowska +5 more
openaire +1 more source
SMN1 gene copy number analyses for SMA healthy carriers in Italian population.
Journal of pediatric genetics, 2012The routine molecular test for spinal muscular atrophy (SMA) diagnosis is based on the detection of a homozygous deletion of exons 7 and 8 of the telomeric copy of the survival motor neuron gene (SMN1). The presence of the centromeric copy of the SMN gene (SMN2) does not allow the detection of the hemizygous absence of the SMN1 gene, which ...
Alessandra Patitucci +8 more
openaire +3 more sources
2022
Spinal muscular atrophy (SMA), a genetically based neuromuscular disease, is an autosomal recessive diseaseprogressed by the loss of motor neuron cells. The incidence of SMA, which is classified as an inherited monogenicdisease, is higher than other rare diseases. SMA is mostly caused by mutations in the SMN1 gene.
TEKE, KEREM +4 more
openaire +1 more source
Spinal muscular atrophy (SMA), a genetically based neuromuscular disease, is an autosomal recessive diseaseprogressed by the loss of motor neuron cells. The incidence of SMA, which is classified as an inherited monogenicdisease, is higher than other rare diseases. SMA is mostly caused by mutations in the SMN1 gene.
TEKE, KEREM +4 more
openaire +1 more source
C117T variant in the SMN1 gene found in the Japanese population
Pediatrics International, 2007AbstractBackground: The SMN genes are closely related to the development of spinal muscular atrophy (SMA); mutated SMN1 causes SMA and functional SMN2 modifies the severity of SMA. SMN1 and SMN2 are almost identical, being distinguished by only five base pair substitutions located at the 3’‐end of the genes.
Ahmad Hamim, Sadewa +4 more
openaire +2 more sources
Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2
Brain and Development, 2018The SMN genes, SMN1 and SMN2, are highly homologous genes which are related to the development or clinical severity of spinal muscular atrophy. Some alternative splicing patterns of the SMN genes have been well documented. In 2007, an SMN1 transcript with a full sequence of intron 3 was reported as the first intron-retained SMN transcript.Intron ...
Nur Imma Fatimah, Harahap +12 more
openaire +2 more sources
TAT-SMN1-mediated protein delivery into mammalian cells
2018Die spinale Muskelatrophie (SMA) ist eine schwerwiegende, autosomal-rezessiv vererbte neurodegenerative Erkrankung mit einer Trägerwahrscheinlichkeit von 1:40–1:60. Die Erkrankung betrifft eine von 10.000 Lebendgeburten pro Jahr. Spinale Muskelatrophie wird durch die Deletion des survival motor neuron 1 (SMN1) Gens bzw.
openaire +1 more source