Reduced von Willebrand factor secretion is associated with loss of Weibel-Palade body formation.
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Reduced von Willebrand factor secretion is associated with loss of Weibel-Palade body formation. / Castaman, G; Giacomelli, S H; Jacobi, P M; Obser, Tobias; Budde, U; Rodeghiero, F; Schneppenheim, Reinhard; Haberichter, S L.
In: J THROMB HAEMOST, Vol. 10, No. 5, 5, 2012, p. 951-958.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Reduced von Willebrand factor secretion is associated with loss of Weibel-Palade body formation.
AU - Castaman, G
AU - Giacomelli, S H
AU - Jacobi, P M
AU - Obser, Tobias
AU - Budde, U
AU - Rodeghiero, F
AU - Schneppenheim, Reinhard
AU - Haberichter, S L
PY - 2012
Y1 - 2012
N2 - von Willebrand disease (VWD) is caused by mutations in von Willebrand factor (VWF) that have different pathophysiologic effect in causing low plasma VWF levels. Type 1 VWD includes quantitative plasma VWF deficiency with normal VWF structure and function.
AB - von Willebrand disease (VWD) is caused by mutations in von Willebrand factor (VWF) that have different pathophysiologic effect in causing low plasma VWF levels. Type 1 VWD includes quantitative plasma VWF deficiency with normal VWF structure and function.
KW - Humans
KW - Genetic Predisposition to Disease
KW - Phenotype
KW - Homozygote
KW - Mutation, Missense
KW - Heterozygote
KW - Fluorescent Antibody Technique
KW - Protein Multimerization
KW - Transfection
KW - Microscopy, Confocal
KW - Protein Binding
KW - HEK293 Cells
KW - Down-Regulation
KW - Collagen/metabolism
KW - Platelet Glycoprotein GPIb-IX Complex/metabolism
KW - Weibel-Palade Bodies/metabolism/pathology/secretion
KW - von Willebrand Disease, Type 1/blood/genetics/pathology
KW - von Willebrand Factor/genetics/metabolism/secretion
KW - Humans
KW - Genetic Predisposition to Disease
KW - Phenotype
KW - Homozygote
KW - Mutation, Missense
KW - Heterozygote
KW - Fluorescent Antibody Technique
KW - Protein Multimerization
KW - Transfection
KW - Microscopy, Confocal
KW - Protein Binding
KW - HEK293 Cells
KW - Down-Regulation
KW - Collagen/metabolism
KW - Platelet Glycoprotein GPIb-IX Complex/metabolism
KW - Weibel-Palade Bodies/metabolism/pathology/secretion
KW - von Willebrand Disease, Type 1/blood/genetics/pathology
KW - von Willebrand Factor/genetics/metabolism/secretion
M3 - SCORING: Journal article
VL - 10
SP - 951
EP - 958
JO - J THROMB HAEMOST
JF - J THROMB HAEMOST
SN - 1538-7933
IS - 5
M1 - 5
ER -