نتایج جستجو برای: smn gene

تعداد نتایج: 1142093  

Hassan Malekinejad, Rahim Hobbenaghi, Sanaz Sheikhzadeh

Mycophenolate mofetil (MMF) as an immunosuppressive agent is used to prevent graft rejection. One of the adverse effects of long time administration of MMF is the gastrointestinal disorder. This study aimed to investigate the gastroprotective effect of silymarin (SMN) on MMF-induced gastrointestinal (GI) disorders. Twenty-four adult female Wistar rats were assigned into three groups including t...

Journal: :PLoS ONE 2008
Tristan H. Coady Travis D. Baughan Monir Shababi Marco A. Passini Christian L. Lorson

RNA modalities are developing as a powerful means to re-direct pathogenic pre-mRNA splicing events. Improving the efficiency of these molecules in vivo is critical as they move towards clinical applications. Spinal muscular atrophy (SMA) is caused by loss of SMN1. A nearly identical copy gene called SMN2 produces low levels of functional protein due to alternative splicing. We previously report...

Journal: :Human molecular genetics 1996
D W Parsons P E McAndrew U R Monani J R Mendell A H Burghes T W Prior

The gene for autosomal recessive spinal muscular atrophy (SMA) has been mapped to 5q12 in a region that contains repeated markers and genes. Three cDNAs that detect deletions in SMA patients have been reported. One of these, the survival motor neuron (SMN) cDNA, is encoded by two genes (SMNT and SMNC) which are distinguished by base changes in exons 7 and 8. Exon 7 of the SMNT gene is not detec...

2012
Li-Kai Tsai

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder, leading to progressive muscle weakness, atrophy, and sometimes premature death. SMA is caused by mutation or deletion of the survival motor neuron-1 (SMN1) gene. An effective treatment does not presently exist. Since the severity of the SMA phenotype is inversely correlated with expression levels of SMN, the SMN...

2017
C. A. Wijngaarde A. C. Blank M. Stam R. I. Wadman L. H. van den Berg W. L. van der Pol

BACKGROUND Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearly identical SMN gene (SMN2) in the human genome ensures production of residual levels of the ubiquitously expressed SMN protein. Alpha-motor neurons in the ventral horns of the ...

Journal: :Psychoradiology 2023

Abstract Background It has been postulated that musicianship can lead to enhanced brain and cognitive reserve, but the neural mechanisms of this effect have poorly understood. Lifelong professional in conjunction with novel imaging techniques offers a unique opportunity examine network differences between musicians matched controls. Objective In study we aim investigate how resting-state functi...

Journal: :Neuron 2017
Constantin d’Ydewalle Daniel M. Ramos Noah J. Pyles Shi-Yan Ng Mariusz Gorz Celeste M. Pilato Karen Ling Lingling Kong Amanda J. Ward Lee L. Rubin Frank Rigo C. Frank Bennett Charlotte J. Sumner

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. SMA therapeutics development efforts have focused on identifying strategies to increase SMN expression. We identified a long non-coding RNA (lncRNA) that arises from the antisense strand of SMN, SMN-AS1, which is enri...

Journal: :Human molecular genetics 2012
Paul N Porensky Chalermchai Mitrpant Vicki L McGovern Adam K Bevan Kevin D Foust Brain K Kaspar Stephen D Wilton Arthur H M Burghes

Spinal muscular atrophy (SMA) is an autosomal-recessive disorder characterized by α-motor neuron loss in the spinal cord anterior horn. SMA results from deletion or mutation of the Survival Motor Neuron 1 gene (SMN1) and retention of SMN2. A single nucleotide difference between SMN1 and SMN2 results in exclusion of exon 7 from the majority of SMN2 transcripts, leading to decreased SMN protein l...

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