نتایج جستجو برای: smn1

تعداد نتایج: 481  

Journal: :Neurology India 2008
Bhairavi Swaminathan S Shylashree Meera Purushottam A B Taly A Nalini

BACKGROUND Proximal spinal muscular atrophy (SMA) is a genetically heterogeneous disease with paresis and muscle atrophy due to loss of anterior horn cell function. The survival of motor neuron gene (SMN) and neuronal apoptosis inhibitory protein (NAIP) play a primary role. Both the gene homologues exist as inverted duplications on Chromosome 5q. The telomeric/functional (SMN1) and the centrome...

Journal: :iranian journal of child neurology 0
afrooz rashnonejad 1.young researchers and elites club, north tehran branch, islamic azad university, tehran, iran huseyin onay 2. department of medical genetics, faculty of medicine, ege university, izmir, turkey tahir atik 3. department of pediatrics, faculty of medicine, ege university, izmir, turkey ozlem atan sahin 4. department of molecular biology and biochemistry, health sciences institute, acibadem university, istanbul, tureky sarenur gokben 5. division of child neurology, department of pediatrics, faculty of medicine, ege university, izmir, turkey hasan tekgul 5. division of child neurology, department of pediatrics, faculty of medicine, ege university, izmir, turkey

how to cite this article: rashnonejad a, onay h, atik t, atan sahin o, gokben s, tekgul h, ozkinay f. molecular genetic analysis of survival motor neuron gene in 460 turkish cases with suspicious spinal muscular atrophy disease. iran j child neurol. autumn 2016; 10(4):30-35. abstract objective to describe 12 yr experience of molecular genetic diagnosis of spinal muscular atrophy (sma) in 460 ca...

Journal: :Developmental dynamics : an official publication of the American Association of Anatomists 2008
Monique A Lorson Lee D Spate Randall S Prather Christian L Lorson

Spinal muscular atrophy (SMA) is an autosomal recessive disorder that is characterized by the degeneration of the motor neurons of the spinal cord leading to muscle atrophy. SMA is a result of a loss-of-function of the gene survival motor neuron-1 (SMN1). We have chosen to generate a transgenic swine model of SMA for the development and testing of therapeutics and evaluation of toxicology. To t...

2013
Charles M. Strom Ben Anderson Mei Peng Urjit Patel Corey D. Braastad Weimin Sun

Purpose: To compare the accuracy of a commercially available MLPA kit with a laboratory developed RT-PCR assay for the detection of SMN1 and SMN2 copy numbers in clinical samples. Methods: We developed and validated a laboratory developed real time PCR based test capable of detecting SMN1 and SMN2 copy numbers in individuals. We also validated an MLPA kit purchased from MRC Holland for the same...

Background & Aims: Spinal muscular atrophy (SMA) is a common disorder with autosomal recessive inheritance pattern. The frequency of carriers of this disease is one in forty to one in sixty. SMA occurs in 98% of cases due to the homozygous deletion of SMN1 exons 7 and 8. The purpose of this study was to evaluating the deletion and point mutations of the SMN1 gene in patients with SMA in west Az...

Journal: :Arquivos De Neuro-psiquiatria 2023

Background: Spinal muscular atrophy (SMA) is a disorder caused by homozygous loss of function the SMN1 gene. This gene produces survival motor neuron (SMN) protein, which important in homeostasis. The SMN2 has homology with SMN1, but only expresses 10% functional full-length SMN protein. treatment available Brazilian public health system Nusinersen, an antisense oligonucleotide that increases p...

Journal: :Analytica chimica acta 2014
Chun-Chi Wang Chi-Jen Shih Yuh-Jyh Jong Shou-Mei Wu

This is the first ligase chain reaction used for diagnosis of spinal muscular atrophy (SMA). Universal fluorescent tri-probe ligation (UFTPL), a novel strategy used for distinguishing the multi-nucleotide alternations at single base, is developed to quantitatively analyze the SMN1/SMN2 genes in diagnosis of SMA. Ligase chain reaction was performed by adding three probes including universal fluo...

2015
Nur Imma Fatimah Harahap Dian Kesumapramudya Nurputra Mawaddah Ar Rochmah Ai Shima Naoya Morisada Toru Takarada Atsuko Takeuchi Yumi Tohyama Shinichiro Yanagisawa Hisahide Nishio

Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder that is currently incurable. SMA is caused by decreased levels of the survival motor neuron protein (SMN), as a result of loss or mutation of SMN1. Although the SMN1 homolog SMN2 also produces some SMN protein, it does not fully compensate for the loss or dysfunction of SMN1. Salbutamol, a β2-adrenergic recepto...

Journal: :Indian journal of biochemistry & biophysics 2003
Akanchha Kesari Monisha Mukherjee Balraj Mittal

Polymerase chain reaction (PCR), followed by restriction digestion is universally used for molecular diagnosis of spinal muscular atrophy (SMA). In the present study, we have used a modified strategy based on amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) to develop a rapid and reliable method for mutation detection and prenatal diagnosis in SMA patients. The telo...

2017
Eun-Ji Ahn Mi-Sun Yum Eun-Hee Kim Han-Wook Yoo Beom Hee Lee Gu-Hwan Kim Tae-Sung Ko

BACKGROUND AND PURPOSE Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Most SMA patients have a homozygous deletion in survival of motor neuron 1 (SMN1) gene, and neuronal apoptosis inhibitory protein (NAIP) gene is considered a phenotype modifier. We investigated the genotype-phenotype correlation of SMN1 a...

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