Muscular dystrophy methods protocols (44 résultats)

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Taschenbuch. Etat : Neu. Druck auf Anfrage Neuware - Printed after ordering - This volume explores experimental approaches used to study Duchenne muscular dystrophy (DMD), an X-linked degenerative skeletal muscle disease caused by mutations in the dystrophin gene. Including the latest progress and scientific achievements, the book covers recent discoveries achieved through in vivo gene editing which have proven to be promising in restoring dystrophin expression, at least in ameliorating skeletal muscle symptoms, and the contents focus on 'Omics' techniques in gene expression, protein expression, miRNAs, and long non-coding RNA analysis, as well as experimental studies of the structural/functional changes affecting the skeletal and cardiac muscles and ongoing preclinical studies and clinical trials. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshootingand avoiding known pitfalls. Authoritative and practical, Duchenne Muscular Dystrophy: Methods and Protocols serves as a guide for researchers exploring the complicated nature of dystrophin in the hope of helping the victims of this disorder.…

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Taschenbuch. Etat : Neu. Druck auf Anfrage Neuware - Printed after ordering - The term 'muscular dystrophy' (MD) describes a group of primary genetic disorders of muscle that often have a distinctive and recognizable clinical p- notype, accompanied by characteristic, but frequently not pathognomonic, pathological features. Research into the molecular basis of the MDs by a c- bination of positional cloning and candidate gene analysis has provided the basis for a reclassification of these disorders, with genetic and protein data augmenting traditional clinically based nomenclature. These findings have brought insights into the molecular pathogenesis of MD, with an increasing number of potential pathways involved in arriving at a dystrophic phenotype. Some common themes can be recognized, however, including the involvement of five members of the dystrophin-associated complex (dystrophin and four sarcoglycans) in different types of MD, and the involvement of two nuclear envelope proteins in producing an Emery-Dreifuss MD phenotype. Other d- ease-associated genes appear to cause MD in a completely unrelated way, such as the involvement of calpain 3 in a form of limb-girdle muscular dystrophy. Section 1 of Muscular Dystrophy: Methods and Protocols reviews tra- tional strategies used to identify MDs. Meantime, techniques developed as a result of the research strategies described previously have become an integral part of the management of many patients with MD and their families, and these techniques are addressed in Sections 2 (DNA-based tests) and 3 (p- tein-based analyses). The continued effort to translate this enhanced und- standing into a molecular cure or treatment for MD is reviewed in Section 4.…

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Taschenbuch. Etat : Neu. Muscular Dystrophy | Methods and Protocols | Katherine M. D. Bushby (u. a.) | Taschenbuch | xii | Englisch | 2010 | Springer Nature B.V. | EAN 9781617371400 | Verantwortliche Person für die EU: Humana Press in Springer Science + Business Media, Heidelberger Platz 3, 14197 Berlin, juergen[dot]hartmann[at]springer[dot]com | Anbieter: preigu.…

Taschenbuch. Etat : Neu. Duchenne Muscular Dystrophy | Methods and Protocols | Camilla Bernardini | Taschenbuch | xii | Englisch | 2018 | Humana | EAN 9781493984664 | Verantwortliche Person für die EU: Humana Press in Springer Science + Business Media, Heidelberger Platz 3, 14197 Berlin, juergen[dot]hartmann[at]springer[dot]com | Anbieter: preigu. …

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Etat : New. Assembles a collection of key techniques for the analysis of DNA and protein from patients suspected to suffer from muscular dystrophy. This work explores various DNA techniques that focus on both the X-linked muscular dystrophies and the autosomal recessive muscular dystrophies. It is suitable for diagnostic laboratories, and clinicians. Editor(s): Bushby, Katherine; Anderson, Louise V.B. Series: Methods in Molecular Medicine. Num Pages: 458 pages, biography. BIC Classification: MBG; MMFM; MNS. Category: (P) Professional & Vocational; (UP) Postgraduate, Research & Scholarly; (UU) Undergraduate. Dimension: 235 x 155 x 30. Weight in Grams: 866. . 2001. 2001st Edition. Hardcover. . . . .…

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Buch. Etat : Neu. Druck auf Anfrage Neuware - Printed after ordering - This volume discusses protocols for key laboratory techniques used to study Duchenne and Becker muscular dystrophies. The chapters in this book cover a wide array of topics such as biochemical assays, quantification of dystrophin and related proteins, and measurements of muscle physiology. The chapters also cover methods of DMD sequence analysis; processing and isolation of cells from muscle tissue; culture and study of patient-derived cells; and work with animal models of DMD. Written in the highly successfulMethods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls.Comprehensive and authoritative, Duchenne Muscular Dystrophy: Methods and Protocols is a valuable resource that will contribute to the standardization of practices in the study of dystrophin and dystrophin-related disease.…

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Etat : New. Assembles a collection of key techniques for the analysis of DNA and protein from patients suspected to suffer from muscular dystrophy. This work explores various DNA techniques that focus on both the X-linked muscular dystrophies and the autosomal recessive muscular dystrophies. It is suitable for diagnostic laboratories, and clinicians. Editor(s): Bushby, Katherine; Anderson, Louise V.B. Series: Methods in Molecular Medicine. Num Pages: 458 pages, biography. BIC Classification: MBG; MMFM; MNS. Category: (P) Professional & Vocational; (UP) Postgraduate, Research & Scholarly; (UU) Undergraduate. Dimension: 235 x 155 x 30. Weight in Grams: 866. . 2001. 2001st Edition. Hardcover. . . . . Books ship from the US and Ireland.…

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Buch. Etat : Neu. Neuware - The term 'muscular dystrophy' (MD) describes a group of primary genetic disorders of muscle that often have a distinctive and recognizable clinical p- notype, accompanied by characteristic, but frequently not pathognomonic, pathological features. Research into the molecular basis of the MDs by a c- bination of positional cloning and candidate gene analysis has provided the basis for a reclassification of these disorders, with genetic and protein data augmenting traditional clinically based nomenclature. These findings have brought insights into the molecular pathogenesis of MD, with an increasing number of potential pathways involved in arriving at a dystrophic phenotype. Some common themes can be recognized, however, including the involvement of five members of the dystrophin-associated complex (dystrophin and four sarcoglycans) in different types of MD, and the involvement of two nuclear envelope proteins in producing an Emery-Dreifuss MD phenotype. Other d- ease-associated genes appear to cause MD in a completely unrelated way, such as the involvement of calpain 3 in a form of limb-girdle muscular dystrophy. Section 1 of Muscular Dystrophy: Methods and Protocols reviews tra- tional strategies used to identify MDs. Meantime, techniques developed as a result of the research strategies described previously have become an integral part of the management of many patients with MD and their families, and these techniques are addressed in Sections 2 (DNA-based tests) and 3 (p- tein-based analyses). The continued effort to translate this enhanced und- standing into a molecular cure or treatment for MD is reviewed in Section 4.…