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

Article

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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• Medicine > Institut für Funktionelle Genomik > Lehrstuhl für Funktionelle Genomik (Prof. Oefner)

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Details

Item type	Article
Journal or Publication Title	Human mutation
Publisher	WILEY
Place of Publication	HOBOKEN
Volume	30
Number of Issue or Book Chapter	6
Page Range	pp. 1003-1011
Date	June 2009
Date of publication	19 Aug 2014 07:19
Institutions	Medicine > Institut für Funktionelle Genomik > Lehrstuhl für Funktionelle Genomik (Prof. Oefner)
Identification Number	Value Type 19370760 PubMed ID 10.1002/humu.20996 DOI
Classification	Notation Type Amino Acids/genetics MESH Animals MESH Apoptosis Regulatory Proteins/metabolism MESH Cardiovascular Abnormalities/metabolism MESH Carrier Proteins/metabolism MESH Cell Line MESH Exons/genetics MESH Frameshift Mutation/genetics MESH Gene Knockdown Techniques MESH Heart/embryology MESH Humans MESH Intracellular Signaling Peptides and Proteins/metabolism MESH Membrane Proteins/metabolism MESH Microtubule-Associated Proteins/metabolism MESH Phenotype MESH Phosphorylation MESH Phosphoserine/metabolism MESH Phosphothreonine/metabolism MESH Protein Binding MESH Protein Interaction Mapping MESH Protein Structure, Tertiary MESH Protein-Serine-Threonine Kinases/metabolism MESH Proto-Oncogene Proteins/metabolism MESH Sequence Deletion MESH Zebrafish/genetics MESH Zebrafish Proteins/genetics MESH
Keywords	20-LIKE KINASE-3 MST3; CARDIOVASCULAR-SYSTEM; CELL-MIGRATION; CCM3 MUTATIONS; PATHOGENESIS; PATHWAY; KRIT1; ACTIVATION; APOPTOSIS; GOLGI; cerebral cavernous malformation; CCM3; PDCD10; CCM2; STK25; MST4
Dewey Decimal Classification	600 Technology > 610 Medical sciences Medicine 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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