Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
| Autor: | Augusto Rendon, Ana Cvejic, Paquita Nurden, Peter A. Smethurst, Ross Kettleborough, Randy J. Read, Willem H. Ouwehand, Katrin Voss, Rémi Favier, Graham Kiddle, Paul Bertone, Marie-Christine Alessi, Myrto Kostadima, Botond Sipos, Cornelis A. Albers, Alan T. Nurden, Evelien E. Bouwmans, Gregory E. Jordan, Jonathan Stephens, Suthesh Sivapalaratnam |
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| Přispěvatelé: | Cvejic, Ana [0000-0003-3204-9311], Bertone, Paul [0000-0001-5059-4829], Read, Randy [0000-0001-8273-0047], Stephens, Jonathan [0000-0003-2020-9330], Rendon Restrepo, Augusto [0000-0001-8994-0039], Ouwehand, Willem [0000-0002-7744-1790], Apollo - University of Cambridge Repository, Vascular Medicine |
| Rok vydání: | 2011 |
| Předmět: |
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 |
| Zdroj: | Nature genetics, 43(8), 735-737. Nature Publishing Group Nature genetics |
| ISSN: | 1061-4036 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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