نتایج جستجو برای: ژن smn1
تعداد نتایج: 16245 فیلتر نتایج به سال:
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder, characterized by the degeneration of motor neurons of the spinal cord, thus leading to the deaths of newborns. More than 95% of SMA patients are caused by the absence of survival motor neuron 1 (SMN1) gene exon 7, located on chromosome 5q13. The SMA disease prevalence and SMA mutations in Thailand have never been reported...
Spinal muscular atrophy is caused by mutations in the SMN1 gene, the product of which is part of a multi-component complex involved in the assembly of small nuclear ribonucleoproteins. A recent study indicates that SMN may also play a role in pre-mRNA splicing.
Background: Spinal muscular atrophy (SMA) is a genetic motor neuron disease caused by mutations in the SMN1 (Survival Motor Neuron) gene, which leads to hypotonia and muscle weakness with high mortality related respiratory involvement. Gene therapy (GT) (onasemnogeno aberpavovec) for SMA, through an adeno-associated viral vector 9 (AAV9) was recently approved our country, but its safety efficac...
Humans carry two nearly identical copies of Survival Motor Neuron gene: SMN1 and SMN2. Mutations or deletions of SMN1, which codes for SMN, cause spinal muscular atrophy (SMA), a leading genetic disease associated with infant mortality. Aberrant expression or localization of SMN has been also implicated in other pathological conditions, including male infertility, inclusion body myositis, amyot...
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. Estimated incidence is 1 in 6,000 to 1 in 10,000 live births and carrier frequency of 1/40-1/60. This disease is characterized by generalized muscle weakness and atrophy predominati...
Determination of the copy number of the survival motor neuron (SMN) gene is important for detecting spinal muscular atrophy (SMA) carriers and compound heterozygous patients. Multiplex ligationdependent probe amplification (MLPA) assay is a simple and efficient technique used for detecting variations in the copy numbers of different genes. Race- and ethnicity-based variation in the SMA carrier ...
Introduction Spinal muscular atrophy (SMA) and sporadic amyotrophic lateral sclerosis (SALS) are both motor neuron disorders. SMA results from the deletion of the survival motor neuron (SMN) 1 gene. High or low SMN1 copy number and the absence of SMN2 have been reported as risk factors for the development or severity of SALS. Objective To investigate the role of SMN gene copy number in the on...
Case presentation: Male patient whose hypotonia was observed around 2 months-old. He diagnosed with Spinal Muscular Atrophy (SMA) when he 4 months-old - heterozygous deletion of the SMN1 gene (1 copy exon 7 and 8), copies SMN2 (2 8 8). In SMN1, a p.Pro246Thrfs*10 variant is observed, characterizing compound heterozygosity. This always had has an excellent multidisciplinary follow-up – motor res...
How deficiency in SMN1 selectively affects motoneurons in spinal muscular atrophy is poorly understood. Here, Imlach et al. and Lotti et al. show that aberrant splicing of Stasimon in cholinergic sensory neurons and interneurons leads to motoneuron degeneration, suggesting that altered circuit function may underlie the disorder.
INTRODUCTION Childhood-onset proximal spinal muscular atrophies (SMAs) are an autosomal recessive, clinically heterogeneous group of neuropathies characterised by the selective degeneration of anterior horn cells. SMA has an estimated incidence of 1 in 10,000 live births. The causative genes are survival motor neuron (SMN) gene and neuronal apoptosis inhibitory protein (NAIP) gene. Deletions of...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید