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P. 134




RESEARCH GROUPS






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PROGRAMME:
Group U734

Genetic Medicine
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Group Members
Lead Researcher
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STAFF MEMBERS
Gonzlez Manchón, Consuelo
Alquzar Burillo, Carolina 

Horrillo Ledesma, Anglica
Contact:
ASSOCIATED MEMBERS
CIB, CSIC, Dep. de Medicina Celular y Molecular 
C/ Ramiro de Maztu, 9. 28040 Madrid. Fontela Casado, Toms 
Garca Arias-Salgado, Elena 
Phone: (+34) 91 837 31 12 · E.mail:[email protected] 
Website: https://www.cib.csic.es/es/grupo.php?idgrupo=58”
Martn Requero, ngeles 
Snchez Ayuso, Matilde
https://www.cib.csic.es/es/grupo.php?idgrupo=57


Main lines of research


• X-linked hyper IgM syndrome animal model generation. Preparation of 

mice with CD40L-/- platelets and/or vascular endothelial cells and com- 

parative analysis with complete CD40L-/- mice.

• Molecular basis of platelet hyperreactivity associated to thrombotic pro- 
cesses.
13
• Use of lymphoblastic cell lines from Amytrophic Lateral Sclerosis (ALS), 20
T 
frontotemporal dementia (associated to progranuline mutations) and Alz- R
PO
heimer patients for a systematic study of mechanisms of cell death and E
survival in neurodegeneration.
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• Molecular basis of hemorrhagic syndromes (Glanzmann thromboasthenia, NU
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Bernard-Soulier syndrome, FXIII deficiency).
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 /
• Function of the GPIb-IX complex in thrombin-induced platelet activation.
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ER
• Production of animal models with conditional ablation of the podocalyxin B
CI
gene in several tissues.

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