نتایج جستجو برای: مخلوطهای sma

تعداد نتایج: 19226  

2000
Bernd Schneider

Since the 1960s, Stone Mastic Asphalt (SMA) pavement surfaces have been used successfully in Germany on heavily trafficked roads. Because of its excellent performance characteristics, road authorities in Germany as well as major European Countries quickly adopted SMA as a standard wearing course. As a consequence of an asphalt study tour in Europe of an American delegation in 1990, SMA test sec...

2011

Superelastic Shape Memory Alloy (SMA) is accepted when it used as connection in steel structures. The seismic behaviour of steel frames with SMA is being assessed in this study. Three eightstorey steel frames with different SMA systems are suggested, the first one of which is braced with diagonal bracing system, the second one is braced with nee bracing system while the last one is which the SM...

Journal: :Journal of medical genetics 1995
G Novelli F Capon L Tamisari E Grandi C Angelini P Guerrini B Dallapiccola

Two sibs affected by the severe neonatal form of spinal muscular atrophy (SMA) with diaphragmatic paralysis are described. The two sibs were discordant for the haplotypes determined by DNA markers flanking the SMA locus. This supports non-linkage of SMA to chromosome 5 in this family and indicates that the uncommon SMA type I variant associated with early onset respiratory failure maps outside ...

Journal: :Molecular biology of the cell 2001
B Hinz G Celetta J J Tomasek G Gabbiani C Chaponnier

To evaluate whether alpha-smooth muscle actin (alpha-SMA) plays a role in fibroblast contractility, we first compared the contractile activity of rat subcutaneous fibroblasts (SCFs), expressing low levels of alpha-SMA, with that of lung fibroblasts (LFs), expressing high levels of alpha-SMA, with the use of silicone substrates of different stiffness degrees. On medium stiffness substrates the p...

Journal: :Human molecular genetics 2016
Zhihua Feng Karen K Y Ling Xin Zhao Chunyi Zhou Gary Karp Ellen M Welch Nikolai Naryshkin Hasane Ratni Karen S Chen Friedrich Metzger Sergey Paushkin Marla Weetall Chien-Ping Ko

Spinal muscular atrophy (SMA) is a genetic disease characterized by atrophy of muscle and loss of spinal motor neurons. SMA is caused by deletion or mutation of the survival motor neuron 1 (SMN1) gene, and the nearly identical SMN2 gene fails to generate adequate levels of functional SMN protein due to a splicing defect. Currently, several therapeutics targeted to increase SMN protein are in cl...

Journal: :American journal of medical genetics. Part A 2010
Thomas W Prior Pamela J Snyder Britton D Rink Dennis K Pearl Robert E Pyatt David C Mihal Todd Conlan Betsy Schmalz Laura Montgomery Katie Ziegler Carolee Noonan Sayaka Hashimoto Shannon Garner

Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in 10,000 live births. The homozygous absence of SMN1 exon 7 has been observed in the majority of patients and is being utilized as a reliable and sensitive SMA diagnostic test. Treatment and prevention of SMA are complement...

2017
Vaibhav A. Diwadkar Avisa Asemi Ashley Burgess Asadur Chowdury Steven L. Bressler

The dorsal Anterior Cingulate Cortex (dACC) and the Supplementary Motor Area (SMA) are known to interact during motor coordination behavior. We previously discovered that the directional influences underlying this interaction in a visuo-motor coordination task are asymmetric, with the dACC→SMA influence being significantly greater than that in the reverse direction. To assess the specificity of...

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...

آیرملو, هرمز, امین بخش, محمد, برزگر, محمد, جبارپور بنیادی, مرتضی, خندقی, رضا, شیمیا, محمد, عمرانی, امید, نداف نیا, حسین,

Background: Spinal muscular atrophy includes a group of neuromuscular disorders characterized by degeneration of anterior horn cells in the spinal cord, and leads to progressive muscular weakness. NAIP is one of the genes that inhibits motor neuron apoptosis. Deletion of this gene is usually observed in type I SMI. The aim of this study was to investigate the frequency and pathogenicity of NAIP...

2015
Michiko Yoshida Shiho Kitaoka Naohiro Egawa Mayu Yamane Ryunosuke Ikeda Kayoko Tsukita Naoki Amano Akira Watanabe Masafumi Morimoto Jun Takahashi Hajime Hosoi Tatsutoshi Nakahata Haruhisa Inoue Megumu K. Saito

Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations of the survival of motor neuron 1 (SMN1) gene. In the pathogenesis of SMA, pathological changes of the neuromuscular junction (NMJ) precede the motor neuronal loss. Therefore, it is critical to evaluate the NMJ formed by SMA patients' motor neurons (MNs), and to identify drugs that can restore the normal condition. We...

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