نتایج جستجو برای: smn2 protein
تعداد نتایج: 1234838 فیلتر نتایج به سال:
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease and one of the leading inherited causes of infant mortality. SMA results from insufficient levels of the survival motor neuron (SMN) protein, and studies in animal models of the disease have shown that increasing SMN protein levels ameliorates the disease phenotype. Our group previously identified and optimized a new ...
BACKGROUND To address it's persistently high maternal mortality rate of 276/100,000 live births, the government of Pakistan created a new cadre of community based midwives (CMW). One expectation is that CMWs will improve access to maternal health services for underserved women. Recent research shows the CMWs have largely failed to establish midwifery practices, because CMW's lack of skills, bot...
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that is characterized by the loss of motor neurons, resulting in progressive muscle atrophy. It is caused by the loss of functional survival motor neuron (SMN) protein due to mutations or deletion in the SMN1 gene. A potential treatment strategy for SMA is to upregulate levels of SMN protein. Several agents that a...
BACKGROUND Spinal muscular atrophy (SMA) is caused by SMN1 dysfunction, and the copy number of SMN2 and NAIP can modify the phenotype of SMA. The aim of this study was to analyze the copy numbers and gene structures of SMA-related genes in Chinese SMA patients and unrelated healthy controls. METHODS Forty-two Chinese SMA patients and two hundred and twelve unrelated healthy Chinese individual...
Clickable ligands like N,N'-bis((pyridin-2-yl)methyl)prop-2-yn-1-amine (L(1)) and N-((1-methyl-1H-imidazol-2-yl)methyl)-N-(pyridin-2-ylmethyl)prop-2-yn-1-amine (L(2)) have been used to synthesise a series of manganese(ii) complexes for grafting onto appropriate solid supports. These ligands mimic the 2-His-1-carboxylate facial chelation present in the active site of the manganese-dependent diox...
OBJECTIVE To describe 12 yr experience of molecular genetic diagnosis of Spinal Muscular Atrophy (SMA) in 460 cases of Turkish patients. MATERIALS & METHODS A retrospective analysis was performed on data from 460 cases, referred to Medical Genetics Laboratory, Ege University's Hospital, Izmir, Turkey, prediagnosed as SMA or with family history of SMA between 2003 and 2014. The PCR-restriction...
BACKGROUND Autosomal recessive spinal muscle atrophy (SMA) is characterized by the loss of α motor neurons resulting in progressive muscle loss and respiratory failure. SMA is one of the most common inherited causes of infant death with a carrier frequency of 1 in 50 and a calculated prevalence of about 1 in 11,000 live births in the US. The low amount of functional survival motor neuron (SMN) ...
Motor neuron loss and neurogenic atrophy are hallmarks of spinal muscular atrophy (SMA), a leading genetic cause of infant deaths. Previous studies have focused on deciphering disease pathogenesis in motor neurons. However, a systematic evaluation of atrophy pathways in muscles is lacking. Here, we show that these pathways are differentially activated depending on severity of disease in two dif...
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