Samenvatting Gezonde en zieke cellen I | Overzicht ziektebeelden en signaalroutes
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Course
Gezonde en zieke cellen I
Institution
Universiteit Utrecht (UU)
Book
Robbins & Cotran Pathologic Basis of Disease
Alle ziektebeelden en signaalroutes in schematische overzichten over de stof uit alle onderwijsvormen van gezonde en zieke cellen I. (Oesteogenesis imperfecta, Marfan syndroom, sikkelcelanemie, erfelijke sferocytose, I-cell disease of mucolipidosis II, familiaire hypercholesterolemie, Cystic Fibros...
ROBBINS AND COTRAN PATHOLOGIC BASIS OF DISEASE, Ninth Edition Anki flashcard
Necrosis
La Batalla Silenciosa: Entendiendo la Inflamación Aguda y su Poder en la Defensa del Cuerpo"
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Universiteit Utrecht (UU)
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Gezonde en zieke cellen I
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GZC I overzicht ziektebeelden
Week 1
Oesteogenesis Imperfecta Marfan syndroom Sikkelcelanemie Erfelijke sferocytose
Overerving Autosomaal dominant Autosomaal dominant Autosomaal recessief Autosomaal dominant
1 Ankyrine
Niet-functionerend 2 Band 3
Collageen type I Fibrilline-1 Β-globine
eiwit 3 Band 4.2
4 Spectrine
1 Frameshift
Vervanging glycine → ander Mutaties in genen die 1 Vervanging glutamaat →
Oorzaak 2 Te vroege stopcodon, leidt
aminozuur coderen voor FBN-1 valine of stopcodon
tot geen synthese
Treksterkte en veerkracht 1 Grootste onderdeel van 1 twee β-globineketens + Skelet vormen dat
bieden microfibrillen in ECM → twee α-globineketens plasmamembraan
Lineaire fibrillen vormen vormen steigers voor vormen hemoglobine stabiliseert
Normale functie bindweefsel in: elastine 2 Transport O2 en CO2
1 Kraakbeen 2 Vooral aanwezig in aorta
2 Bloedvaten en ligamenten
3 Huid
4 Helende wonden
5 Littekens
1 Extreem breekbare botten 1 Lange extremiteiten door 1 Anemie 1 Anemie
2 Blauw oogwit overschot TGF-β 2 Ischemie 2 Splenomegalie
Ziekteverschijnselen 3 Gehoorverlies 2 Aortadilatatie 3 Icterus 3 Icterus
4 Kleine, misvormde, blauw- 3 Mitralisklepprolaps
gele tanden 4 Zwakke ligamenten
5 Kyfose of scoliose
GZC I → overzicht ziektebeelden → 1
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