نتایج جستجو برای: smn1
تعداد نتایج: 481 فیلتر نتایج به سال:
[This corrects the article DOI: 10.1371/journal.pone.0152439.].
Spinal muscular atrophy (SMA) is caused by homozygous loss of the survival motor neuron (SMN1) gene. In virtually all SMA patients, a nearly identical copy gene is present, SMN2. SMN2 cannot fully compensate for the loss of SMN1 because the majority of transcripts derived from SMN2 lack a critical exon (exon 7), resulting in a dysfunctional SMN protein. Therefore, the critical distinction betwe...
Spinal muscular atrophy (SMA) is a autosomal recessive disease characterized by weakness, hypotonia and atrophy. SMA caused mutation or deletion of the survivor motor neuron gene (SMN1), which located in telomere region chromosome 5q13. Incidence 1:6000-10000 newborn. Confirmatory diagnosis can be established molecular genetic analysis. Here 2- month- old female baby was admitted into departmen...
Spinal muscular atrophy is caused by loss of the SMN1 gene and retention of SMN2. The SMN2 copy number inversely correlates with phenotypic severity and is a modifier of disease outcome. The SMN2 gene essentially differs from SMN1 by a single nucleotide in exon 7 that modulates the incorporation of exon 7 into the final SMN transcript. The majority of the SMN2 transcripts lack exon 7 and this l...
In this issue of Arteriosclerosis, Thrombosis, and Vascular Biology, Shimoyama et al1 demonstrates that neointimal formation after vascular injury is enhanced in CCN3 knockout mice, suggesting that CCN3 suppresses neointimal thickening. In addition, the results from in vitro approaches further demonstrate that CCN3 inhibits vascular smooth muscle cell (VSMC) growth and migration, and the inhibi...
BACKGROUND DNA copy number variation is associated with genetic disorders and cancer. Available methods to discern variation in copy number are typically costly, slow, require specialized equipment, and/or lack precision. METHODS Multiplex PCR with different primer pairs and limiting deoxynucleotide triphosphates (dNTPs) (3-12 μmol/L) were used for relative quantification and copy number asse...
The lymphotropic Herpesvirus saimiri (HVS) causes acute leukemia, T-cell lymphoma, and death in New World monkeys. HVS encodes seven small RNAs (HSURs) of unknown function. The HSURs acquire host Sm proteins and assemble Sm cores similar to those found on the spliceosomal small nuclear RNPs (snRNPs). Here we show that, like host snRNPs, HSURs use the SMN (survival of motor neurons) complex to a...
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