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Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
- Source :
- Nature genetics, 43(8), 735-737. Nature Publishing Group, Nature genetics
- Publication Year :
- 2011
- Publisher :
- Springer Science and Business Media LLC, 2011.
-
Abstract
- Gray platelet syndrome (GPS) is a predominantly recessive platelet disorder that is characterized by mild thrombocytopenia with large platelets and a paucity of α-granules; these abnormalities cause mostly moderate but in rare cases severe bleeding. We sequenced the exomes of four unrelated individuals and identified NBEAL2 as the causative gene; it has no previously known function but is a member of a gene family that is involved in granule development. Silencing of nbeal2 in zebrafish abrogated thrombocyte formation.
- Subjects :
- Adult
Blood Platelets
Male
Embryo, Nonmammalian
Platelet disorder
Molecular Sequence Data
Nerve Tissue Proteins
030204 cardiovascular system & hematology
Cytoplasmic Granules
Gray Platelet Syndrome
Article
Gray platelet syndrome
Animals, Genetically Modified
03 medical and health sciences
Young Adult
0302 clinical medicine
Sequence Homology, Nucleic Acid
Genetics
medicine
Gene silencing
Animals
Humans
Platelet
Zebrafish
Gene
Exome sequencing
030304 developmental biology
Aged
Regulation of gene expression
0303 health sciences
biology
Base Sequence
Secretory Vesicles
Gene Expression Regulation, Developmental
Sequence Analysis, DNA
Middle Aged
biology.organism_classification
medicine.disease
Pedigree
Immunology
Female
Subjects
Details
- ISSN :
- 10614036
- Database :
- OpenAIRE
- Journal :
- Nature genetics, 43(8), 735-737. Nature Publishing Group, Nature genetics
- Accession number :
- edsair.doi.dedup.....4abc58bd4c63583725787a8614ccc3d5