Product Type
Condition
Binding
Collectible Attributes
Free Shipping
Seller Location
Seller Rating
Published by GRIN Publishing Jun 2015, 2015
ISBN 10: 3656945969ISBN 13: 9783656945963
Seller: BuchWeltWeit Ludwig Meier e.K., Bergisch Gladbach, Germany
Book Print on Demand
Taschenbuch. Condition: Neu. This item is printed on demand - it takes 3-4 days longer - Neuware -Doctoral Thesis / Dissertation from the year 2015 in the subject Medicine - Human Genetics, grade: 1, University of Rome 'La Sapienza' (University of Rome 'La Sapienza'), course: Clinical Immunology, language: English, abstract: Vici syndrome is a complex multisystem disorder characterized by congenital malformations of the brain, cataracts, skin hypopigmentation, progressive damage of cardiac function and muscle, immune deficiency. Affected children do not respond to vaccination, have low levels of antibodies in the blood and suffering from severe and frequent infections. The disease is caused by a mutation of the gene EPG5, which encodes a protein essential for the trafficking and function of intracellular vesicles.Cells use vesicles to eliminate uwanted material and remove dead cells. The unwanted material is incorporated into a vesicle and then merged with lysosomes containing proteins that digest the contents to be eliminated (autophagy).This system is essential already during the embryonic stage and then for life. Therefore, its failure causes a disease involving various organs and systems. Since infections are frequent in patients with Vici Syndrome, we think that EPG5 plays a role in the immune system:In this project i propose to assess whether EPG5 is necessary for cells to capture and degrade microorganisms and foreign particles, a necessary step to start the immune reaction. To do this i use cells from patients and healthy controls with fluorescent molecules to study the formation and trafficking of vesicles and evaluate the activation of immune cells by measuring the levels of antibodies and cytokines.Other metabolic diseases and multisystem syndromes, often also associated with immunodeficiency, are in fact caused by genes involved in trafficking, merge or release of vesicles in the cell. My study is a prototype, intended to clarify the underlying mechanisms of a defect in a specific immune complex disease. The results will be used to develop therapies appropriate to fight at least in part the symptoms and risks in patients with multisystem genetic disease. 100 pp. Englisch.
Published by Grin Publishing, 2015
ISBN 10: 3656945969ISBN 13: 9783656945963
Seller: Lucky's Textbooks, Dallas, TX, U.S.A.
Book
Condition: New.
Published by Grin Verlag Gmbh, 2015
ISBN 10: 3656945969ISBN 13: 9783656945963
Seller: PBShop.store US, Wood Dale, IL, U.S.A.
Book Print on Demand
PAP. Condition: New. New Book. Shipped from UK. THIS BOOK IS PRINTED ON DEMAND. Established seller since 2000.
Published by GRIN Publishing, 2015
ISBN 10: 3656945969ISBN 13: 9783656945963
Seller: Ria Christie Collections, Uxbridge, United Kingdom
Book Print on Demand
Condition: New. PRINT ON DEMAND Book; New; Fast Shipping from the UK. No. book.
Published by GRIN Publishing 2015-06, 2015
ISBN 10: 3656945969ISBN 13: 9783656945963
Seller: Chiron Media, Wallingford, United Kingdom
Book
PF. Condition: New.
Published by GRIN Publishing, 2015
ISBN 10: 3656945969ISBN 13: 9783656945963
Seller: AHA-BUCH GmbH, Einbeck, Germany
Book Print on Demand
Taschenbuch. Condition: Neu. nach der Bestellung gedruckt Neuware - Printed after ordering - Doctoral Thesis / Dissertation from the year 2015 in the subject Medicine - Human Genetics, grade: 1, University of Rome 'La Sapienza' (University of Rome 'La Sapienza'), course: Clinical Immunology, language: English, abstract: Vici syndrome is a complex multisystem disorder characterized by congenital malformations of the brain, cataracts, skin hypopigmentation, progressive damage of cardiac function and muscle, immune deficiency. Affected children do not respond to vaccination, have low levels of antibodies in the blood and suffering from severe and frequent infections. The disease is caused by a mutation of the gene EPG5, which encodes a protein essential for the trafficking and function of intracellular vesicles.Cells use vesicles to eliminate uwanted material and remove dead cells. The unwanted material is incorporated into a vesicle and then merged with lysosomes containing proteins that digest the contents to be eliminated (autophagy).This system is essential already during the embryonic stage and then for life. Therefore, its failure causes a disease involving various organs and systems. Since infections are frequent in patients with Vici Syndrome, we think that EPG5 plays a role in the immune system:In this project i propose to assess whether EPG5 is necessary for cells to capture and degrade microorganisms and foreign particles, a necessary step to start the immune reaction. To do this i use cells from patients and healthy controls with fluorescent molecules to study the formation and trafficking of vesicles and evaluate the activation of immune cells by measuring the levels of antibodies and cytokines.Other metabolic diseases and multisystem syndromes, often also associated with immunodeficiency, are in fact caused by genes involved in trafficking, merge or release of vesicles in the cell. My study is a prototype, intended to clarify the underlying mechanisms of a defect in a specific immune complex disease. The results will be used to develop therapies appropriate to fight at least in part the symptoms and risks in patients with multisystem genetic disease.
Published by Grin Verlag Gmbh, 2015
ISBN 10: 3656945969ISBN 13: 9783656945963
Seller: PBShop.store UK, Fairford, GLOS, United Kingdom
Book Print on Demand
PAP. Condition: New. New Book. Delivered from our UK warehouse in 4 to 14 business days. THIS BOOK IS PRINTED ON DEMAND. Established seller since 2000.