emery dreifuss disease humeroperoneal muscular dystrophy

Báo cáo Y học: The Emery–Dreifuss muscular dystrophy associated-protein emerin is phosphorylated on serine 49 by protein kinase A pptx

... membrane in 14 patients with Emery Dreifuss muscular dystrophy Nat Genet 12, 254–259 Manilal S, thi Man N, Sewry CA & Morris GE (1996) The Emery Dreifuss muscular dystrophy protein, emerin, is ... on chromosome Xq28 and mutations within this gene give rise to X-linked Emery Dreifuss muscular dystrophy (X-EDMD), a neuromuscular condition with an associated life-threatening cardiac conduction ... death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery Dreifuss muscular dystrophy Eur J Biochem 271, 1035–1045 Holaska JM, Lee KK, Kowalski AK & Wilson KL (2003)...

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Báo cáo khóa học: Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery–Dreifuss muscular dystrophy pdf

Danh mục: Báo cáo khoa học

... responsible for Emery Dreifuss muscular dystrophy Nat Genet 8, 323–327 Emery, A.E.H (1989) Emery Dreifuss syndrome J Med Genet 26, 637–641 Emery, A.E.H (2000) Emery Dreifuss muscular dystrophy – ... contribute to the Emery Dreifuss muscular dystrophy phenotype J Cell Sci 111, 781–792 22 Morris, G.E & Manilal, S (1999) Heart to heart: from nuclear proteins to Emery Dreifuss muscular dystrophy Hum ... apoptosis, human disease and the functional evolution of the nuclear lamina Trends Bioch Sci 26, 41–47 18 Manilal, S., Nguyen, T.M., Sewry, C.A & Morris, G.E (1996) The Emery Dreifuss muscular dystrophy...

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Tài liệu Muscular dystrophy docx

Danh mục: Anh ngữ phổ thông

... of muscular dystrophy The other major types of muscular dystrophy include: • • • • • Limb-girdle muscular dystrophy Congenital muscular dystrophy Oculopharyngeal muscular dystrophy Distal muscular ... muscular dystrophy Distal muscular dystrophy Emery- Dreifuss muscular dystrophy Limb-girdle muscular dystrophy Muscles usually affected first by this form of muscular dystrophy include: • • Hips Shoulders ... features of Emery- Dreifuss MD Emery- Dreifuss MD usually begins in the childhood to early teen years and progresses slowly Causes Muscular dystrophy is a general term for a group of inherited diseases...

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Báo cáo khoa học: Effect of oculopharyngeal muscular dystrophy-associated extension of seven alanines on the ﬁbrillation properties of the N-terminal domain of PABPN1 pot

Danh mục: Báo cáo khoa học

... oculopharyngeal muscular dystrophy Neuromusc Disord 7, 63–69 ´ 16 Calado A, Tome FMS, Brais B, Rouleau GA, Kuhn U, ¨ Wahle E & Carmo-Fonseca M (2000) Nuclear inclusions in oculopharyngeal muscular dystrophy ... References Scheibel T & Buchner J (2006) Protein aggregation as a cause for disease In Molecular Chaperones in Health and Disease; Handbook of Experimental Pharmacology (Gaestel M, ed.), pp 199–219 ... Trinucleotide repeats and neurodegenerative disease Brain 127, 2385–2405 Selkoe DJ (2004) Cell biology of protein misfolding: the examples of Alzheimer’s and Parkinson’s diseases Nature Cell Biol 6, 1054–1061...

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muscular dystrophy, methods and protocols

Danh mục: Sinh học

... fascicular architecture 3.3 Emery- Dreifuss Muscular Dystrophy Few histopathologists have first-hand experience of more than a handful of presumptive Emery- Dreifuss muscular dystrophy (EDMD) (8) biopsies, ... Muscular Dystrophy: Methods and Protocols Edited by: K M D Bushby and L V B Anderson © Humana Press Inc., Totowa, NJ Bushby and Anderson Table Muscular Dystrophy Genes and Proteins Muscular dystrophy ... producing an Emery- Dreifuss MD phenotype (2) Other disease- associated genes appear to cause MD in a completely unrelated way, such as the involvement of calpain in a form of limbgirdle muscular dystrophy...

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Báo cáo sinh học: " Improvement of cardiac contractile function by peptide-based inhibition of NF-B in the utrophin/dystrophin-deficient murine model of muscular dystrophy" potx

Danh mục: Hóa học - Dầu khí

... heart in the mdx mouse model of Duchenne Muscular Dystrophy PLoS One 2010, 5:e11220 Bushby K, Lochmuller H, Lynn S, Straub V: Interventions for muscular dystrophy: molecular medicines entering ... stimulation[11,12,25] For this proof-of-principle study, we did not include additional models of muscular dystrophy or wild-type mice However, we can compare the contractile response to our previous ... failure stemming from a variety of etiologies, NBD treatment may be useful beyond the field of muscular dystrophy Acknowledgements This study was supported by a grant from the National Institutes...

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báo cáo hóa học:" Improvement of cardiac contractile function by peptide-based inhibition of NF-B in the utrophin/dystrophin-deficient murine model of muscular dystrophy" doc

Danh mục: Hóa học - Dầu khí

... heart in the mdx mouse model of Duchenne Muscular Dystrophy PLoS One 2010, 5:e11220 Bushby K, Lochmuller H, Lynn S, Straub V: Interventions for muscular dystrophy: molecular medicines entering ... stimulation[11,12,25] For this proof-of-principle study, we did not include additional models of muscular dystrophy or wild-type mice However, we can compare the contractile response to our previous ... failure stemming from a variety of etiologies, NBD treatment may be useful beyond the field of muscular dystrophy Acknowledgements This study was supported by a grant from the National Institutes...

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Báo cáo y học: " Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report" ppt

Danh mục: Báo cáo khoa học

... of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation J Clin Invest 2002, 110:807-814 Cooke R: Stem cells aimed at muscular dystrophy: evidence suggests ... marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report Journal of Medical Case Reports 2011 5:216 Competing interests The ... MC, van Paassen HM, van Broeckhoven C, Pearson PL, van Ommen GJ: Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications...

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Carrier detection in families affected by duchenne muscular dystrophy using multiplex ligation dependent probe amplification (1)

Danh mục: Y dược - Sinh học

... Duchenne muscular dystrophy using Multiplex Ligation- dependent Probe Amplification” CHAPTER INTRODUCTION 1.1 Duchenne muscular dystrophy 1.1.1 Characteristics of DMD Duchenne muscular dystrophy ... complex (DGC) in skeletal muscular [4] 12 Figure 5: The steps in PCR 15 Figure 6: Test hybridization on a metaphase from the 18 Duchenne muscular dystrophy carrier [29] ... in the 1860s Although the disease was discovered a long time ago, as recently as the early 1980s, people still did not understand the cause of any form of muscular dystrophy In 1986, researchers...

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Carrier detection in families affected by duchenne muscular dystrophy using multiplex ligation dependent probe amplification (2)

Danh mục: Y dược - Sinh học

... Duchenne muscular dystrophy using Multiplex Ligation- dependent Probe Amplification” CHAPTER INTRODUCTION 1.1 Duchenne muscular dystrophy 1.1.1 Characteristics of DMD DMD is an X-linked recessive disease ... phát bệnh nhân có đột biến lặp đoạn exon 11-20 51-60 gen dystrophy Kỹ thuật MLPA thực theo khuyến nghị nhà sản xuất PREFACE Duchenne muscular dystrophy (DMD) is one of the most common fatal genetic ... TÓM TẮT Bệnh loạn dưỡng Duchenne (Duchenne Muscular Dystrophy- DMD) bệnh di truyền lặn liên kết với nhiễm sắc thể X gây đột biến gen dystrophin.Theo...

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Cambridge.University.Press.Vascular.Disease.A.Handbook.for.Nurses.Oct.2005.pdf

Danh mục: TOEFL - IELTS - TOEIC

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Báo cáo y học: "Can Occult Cystobiliary Fistulas in Hepatic Hydatid Disease Be Predicted Before Surgery"

Danh mục: Y học thưởng thức

... complicated hepatic hydatid disease after surgical intervention Endoscopy 2001, 33:858-63 Koksal N, Muftuoglu T, Gunerhan Y, et al Management of intrabiliary ruptured hydatid disease of the liver Hepatogastroenterology ... the management of hepatobiliary hydatid disease J Clin Gastroenterol 2002, 35:160-74 http://www.medsci.org Int J Med Sci 2011, 320 21 Milicevic H Hydatid disease In: Blumgart L, Fong Y, editors ... bleeding and biliary leakage from liver residual surface after total pericystectomy for hydatid disease. by Cois A, Forty-five patients underwent total pericystectomy and liver residual surface...

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Báo cáo y học: "Two-year Outcome of Turkish Patients Treated with Zotarolimus Versus Paclitaxel Eluting Stents in an Unselected Population with Coronary Artery Disease in the Real World: A Prospective Non-randomized Registry in Southern Turk

Danh mục: Y học thưởng thức

... Int J Med Sci 2011, (BMSs) in patients with symptomatic coronary artery disease of simple to moderate complexity (1-3) The use of the Zotarolimus-eluting stent (ZES; Medtronic ... Santa Rosa, CA) for treating single de novo lesions in patients with symptomatic coronary artery disease has been examined in the first four trials of the ongoing ENDEAVOR clinical trials program ... the rates of clinical and angiographic restenosis in patients with symptomatic coronary artery disease (CAD; 4) Also the safety and efficacy of Paclitaxel-eluting stent (PES; Taxus, Boston Scientific...

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Báo cáo y học: "Efficacy of Sirolimus-Eluting Stents Compared With Paclitaxel-Eluting Stents in an Unselected Population With Coronary Artery Disease: 24-Month Outcomes of Patients in a Prospective Non-randomized Registry in Southern Turkey&

Danh mục: Y học thưởng thức

... report the 24-month outcomes of unselected patients in southern Turkey who had coronary artery disease that was treated with either the SES or the PES METHODS Patient Population The study population ... consecutive series of all patients who had undergone coronary stent implantation for coronary artery disease between February 2005 and March 2007; 103 of the patients received the SES (CYPHER; Cordis ... Natick, Massachusetts) Patients were eligible for enrollment if there was symptomatic coronary artery disease or positive functional testing, and angiographic evidence of a target lesion stenosis of...

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Báo cáo y học: "Percutaneous laser disc decompression for thoracic disc disease: report of 10 cases"

Danh mục: Y học thưởng thức

... herniations, most published studies have focused on the use of PLDD for the treatment of lumbar disc disease Thoracic discogenic pain or herniation causing neural impingement is less common than that ... thoracic region In order to assess the efficacy and safety of PLDD for the treatment of thoracic disc disease, we performed a study of ten patients with thoracic discogenic pain who were unresponsive ... postoperatively Note that remaining patients reported minimal or no improvement Discussion Thoracic disc disease is much less common than that of lumbar and cervical discs However, certain types of impact,...

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Báo cáo y học: "The Geography of Chronic Obstructive Pulmonary Disease Across Time: California in 1993 and 1999"

Danh mục: Y học thưởng thức

... obstructive pulmonary disease worldwide Monaldi Archives for Chest Disease 2001; 56: 261-264 Anto JM, Vermeire P, Vestbo J, Sunyer J Epidemiology of chronic obstructive pulmonary disease European ... understood and the healthcare costs associated with the disease are poorly characterized Few studies have attempted to quantify the impact of the disease on patient health, the healthcare system, caregivers ... very expensive disease to treat as well as costly in regard to premature morbidity and mortality, it is imperative that we develop a thorough understanding of the dimensions of this disease, both...

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Báo cáo y học: "Relationships between free radical levels during carotid endarterectomy and markers of arteriosclerotic disease"

Danh mục: Y học thưởng thức

... ICAM-1 The outcome of the PCA of the radical data, data concerning the degree of arteriosclerotic disease and some relevant clinical data are shown in Figure In order to increase the lucidity of ... stenosis was associated with higher MMP-9 values, suggesting that a more severe atherosclerotic disease causes elevated MMP-9 levels Inhibition of MMP-9 in conjunction with these operations might ... correlation was found between the expression of ICAM-1 and the severity of symptomatic carotid disease [26] Oxidised, low-density lipoprotein (oxLDL) is found within the atherosclerotic blood...

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Báo cáo y học: "BRCA1 May Modulate Neuronal Cell Cycle Re-Entry in Alzheimer Disease"

Danh mục: Y học thưởng thức

... Alzheimer disease patients contain cytoskeletal components Proc Natl Acad Sci U S A 1985; 82: 3916-20 Mori H, Kondo J, Ihara Y Ubiquitin is a component of paired helical filaments in Alzheimer's disease ... Alzheimer disease brains Proc Natl Acad Sci U S A 1987; 84: 3033-6 Perry G, Cras P, Siedlak SL, et al Beta protein immunoreactivity is found in the majority of neurofibrillary tangles of Alzheimer's disease ... cycle control, in Alzheimer's disease Aging Cell 2003; 2: 105-10 Ogawa O, Zhu X, Lee HG, et al Ectopic localization of phosphorylated histone H3 in Alzheimer's disease: a mitotic catastrophe?...

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Báo cáo y học: "Association of the T+294C polymorphism in PPAR δ with low HDL cholesterol and coronary heart disease risk in women"

Danh mục: Y học thưởng thức

... 12.0 software The association between the +294T/C polymorphism and serum lipids, coronary heart disease, and body mass index (BMI) was calculated using the Student’s t-test analysis with genotype ... Weinberg Equilibrium Overall the C allele frequency was higher in patients with coronary heart disease than in those without, but this difference was not statistically significant The plasma ... significantly lower VLDL In the entire group no significant interaction between genotype and coronary heart disease could be detected Eliminating patients with diabetes mellitus or triglycerides higher than...

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Báo cáo y học: "Hepatitis C Virus Serologic and Virologic Tests and Clinical Diagnosis of HCVRelated Liver Disease"

Danh mục: Y học thưởng thức

... patients, or continued to slow liver disease progression without clearing the virus (Figure 1A) The benefits of maintenance therapy on the outcome of HCV-associated liver disease are currently under investigation ... hepatitis C depends on multiple parameters, including a precise assessment of the severity of liver disease and of its foreseeable outcome, the presence of absolute or relative contra-indications ... of a sustained virological response, of the order of 40% to 50%, a precise assessment of liver disease prognosis by means of a liver biopsy or a non-invasive method based on serological markers...

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