نتایج جستجو برای: sma

تعداد نتایج: 18948  

2015
Ping Fang Liang Li Jian Zeng Wan-Jun Zhou Wei-Qing Wu Ze-Yan Zhong Ti-Zhen Yan Jian-Sheng Xie Jing Huang Li Lin Ying Zhao Xiang-Min Xu

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...

Journal: :علوم و تکنولوژی پلیمر 0
محمدعلی سمسارزاده حجت ماهی حسن آبادی

linear low density polyethylene (lldpe) was blended with esterified styrene-maleic anhydride (esma) and its physical and mechanical properties were studied. styrene-maleic anhydride (sma) copolymer was synthesized by precipitation reaction. then, sma was esterified by 1-decanol in methylethyl ketone solvent. from the ftir spectrum of esma it is evident that the corresponding peaks of anhydride ...

Journal: :American journal of physiology. Gastrointestinal and liver physiology 2000
M Buck D J Kim K Houglum T Hassanein M Chojkier

Expression of alpha-smooth muscle actin (alpha-SMA) defines the phenotype of activated (myofibroblastic) hepatic stellate cells. These cells, but not quiescent stellate cells, have a high level of alpha-SMA and c-Myb expression, as well as increased c-Myb-binding activities to the proximal alpha-SMA E box. Therefore, we analyzed the role of c-Myb in alpha-SMA transcription and stellate cell act...

Journal: :Human molecular genetics 2010
Monir Shababi Javad Habibi Hsiao T Yang Spencer M Vale Will A Sewell Christian L Lorson

Spinal muscular atrophy (SMA) is an autosomal recessive disorder, which is the leading genetic cause of infantile death. SMA is the most common inherited motor neuron disease and occurs in approximately 1:6000 live births. The gene responsible for SMA is called Survival Motor Neuron-1 (SMN1). Interestingly, a human-specific copy gene is present on the same region of chromosome 5q, called SMN2. ...

Journal: :The Journal of clinical investigation 2014
Thomas M Wishart Chantal A Mutsaers Markus Riessland Michell M Reimer Gillian Hunter Marie L Hannam Samantha L Eaton Heidi R Fuller Sarah L Roche Eilidh Somers Robert Morse Philip J Young Douglas J Lamont Matthias Hammerschmidt Anagha Joshi Peter Hohenstein Glenn E Morris Simon H Parson Paul A Skehel Thomas Becker Iain M Robinson Catherina G Becker Brunhilde Wirth Thomas H Gillingwater

The autosomal recessive neurodegenerative disease spinal muscular atrophy (SMA) results from low levels of survival motor neuron (SMN) protein; however, it is unclear how reduced SMN promotes SMA development. Here, we determined that ubiquitin-dependent pathways regulate neuromuscular pathology in SMA. Using mouse models of SMA, we observed widespread perturbations in ubiquitin homeostasis, inc...

Journal: :The Kobe journal of medical sciences 2002
Tran Van Khanh Yasuhiro Takeshima Yosuke Harada Hisahide Nishio Nguyen Thi Ngoc Dao Nguyen Thi Hoan Bui Phuong Thao Masafumi Matsuo

Most patients with spinal muscular atrophy (SMA) have been reported to show homozygous deletion of the gene responsible for SMA, SMN1. However, whether SMA patients homozygous for the SMN1 deletion exist in Southeast Asian countries, including Vietnam, remains to be determined, because molecular genetic analyses of SMA patients from these countries have not been reported. In this preliminary st...

Journal: :Blood 1991
A Peled D Zipori O Abramsky H Ovadia E Shezen

Human fibrotic bone marrow (BM) stroma has been shown to contain alpha-smooth muscle actin (alpha-SMA)-positive cells. These closely resemble myofibroblasts that were described in other fibrotic tissues. We studied the expression of alpha-SMA in a series of murine BM-derived stromal cell lines to investigate the cellular origin and functional significance of myofibroblast-like cells in hematopo...

Journal: :NeuroImage 2012
Michael Schwartze Kathrin Rothermich Sonja A. Kotz

The ability to assess temporal structure is crucial in order to adapt to an ever-changing environment. Increasing evidence suggests that the supplementary motor area (SMA) is involved in both sensory and sensorimotor processing of temporal structure. However, it is not entirely clear whether the structural differentiation of the SMA translates into functional specialization, and how the SMA rel...

2017
Marc-Olivier Deguise Rashmi Kothary

Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by motor neuron degeneration, although defects in multiple cell types and tissues have also been implicated. Three independent laboratories recently identified immune organ defects in SMA. We therefore propose a novel pathogenic mechanism contributory to SMA, resulting in higher susceptibility to infection and exacerbated d...

M. Moradi M. Shariyat, S. Samaee

In the past few years, extensive improvements have been accomplished in reinforcing the structures through using shape memory alloys (SMAs). These materials absorb or dissipate energy through establishing a reversible hysteresis loop during a cyclic mechanical loading. This unique characteristic of the SMAs has made them appropriate for sensing, actuation, absorbing the impact energy, and vibra...

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