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Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein

Voss, Katrin, Stahl, Sonja, Hogan, Benjamin M., Reinders, Jörg, Schleider, Elisa, Schulte-Merker, Stefan and Felbor, Ute (2009) Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein. Human mutation 30 (6), pp. 1003-1011.

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Abstract

Cerebral cavernous malformations (CCMs) may cause recurrent headaches, seizures, and hemorrhagic stroke and have been associated with loss-of-function mutations in CCM1/KRIT1, CCM2, and CCM3/programmed cell death 10 (PDCD10). The CCM3/PDCD10 amino acid sequence does not reveal significant homologies to protein domains with known structure. With the help of the only published human in-frame ...

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Item type:Article
Date:June 2009
Institutions:Medicine > Institut für Funktionelle Genomik > Lehrstuhl für Funktionelle Genomik (Prof. Oefner)
Identification Number:
ValueType
19370760PubMed ID
10.1002/humu.20996DOI
Classification:
NotationType
Amino Acids/geneticsMESH
AnimalsMESH
Apoptosis Regulatory Proteins/metabolismMESH
Cardiovascular Abnormalities/metabolismMESH
Carrier Proteins/metabolismMESH
Cell LineMESH
Exons/geneticsMESH
Frameshift Mutation/geneticsMESH
Gene Knockdown TechniquesMESH
Heart/embryologyMESH
HumansMESH
Intracellular Signaling Peptides and Proteins/metabolismMESH
Membrane Proteins/metabolismMESH
Microtubule-Associated Proteins/metabolismMESH
PhenotypeMESH
PhosphorylationMESH
Phosphoserine/metabolismMESH
Phosphothreonine/metabolismMESH
Protein BindingMESH
Protein Interaction MappingMESH
Protein Structure, TertiaryMESH
Protein-Serine-Threonine Kinases/metabolismMESH
Proto-Oncogene Proteins/metabolismMESH
Sequence DeletionMESH
Zebrafish/geneticsMESH
Zebrafish Proteins/geneticsMESH
Dewey Decimal Classification:500 Science > 570 Life sciences
600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:No
Item ID:30676
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