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Exome sequencing identifies NBEAL2 as the causative gene for Gray Platelet Syndrome
Gray platelet syndrome (GPS) is a predominantly recessive platelet disorder characterized by a 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 cases and iden...
| Autores principales: | , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428934/ https://www.ncbi.nlm.nih.gov/pubmed/21765411 http://dx.doi.org/10.1038/ng.885 |
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| author | Albers, Cornelis A Cvejic, Ana Favier, Rémi Bouwmans, Evelien E Alessi, Marie-Christine Bertone, Paul Jordan, Gregory Kettleborough, Ross NW Kiddle, Graham Kostadima, Myrto Read, Randy J Sipos, Botond Sivapalaratnam, Suthesh Smethurst, Peter A Stephens, Jonathan Voss, Katrin Nurden, Alan Rendon, Augusto Nurden, Paquita Ouwehand, Willem H |
| author_facet | Albers, Cornelis A Cvejic, Ana Favier, Rémi Bouwmans, Evelien E Alessi, Marie-Christine Bertone, Paul Jordan, Gregory Kettleborough, Ross NW Kiddle, Graham Kostadima, Myrto Read, Randy J Sipos, Botond Sivapalaratnam, Suthesh Smethurst, Peter A Stephens, Jonathan Voss, Katrin Nurden, Alan Rendon, Augusto Nurden, Paquita Ouwehand, Willem H |
| author_sort | Albers, Cornelis A |
| collection | PubMed |
| description | Gray platelet syndrome (GPS) is a predominantly recessive platelet disorder characterized by a 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 cases and identified as the causative gene NBEAL2, a gene with previously unknown function but a member of a gene family involved in granule development. Silencing of nbeal2 in zebrafish abrogated thrombocyte formation. |
| format | Online Article Text |
| id | pubmed-3428934 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2011 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-34289342012-08-28 Exome sequencing identifies NBEAL2 as the causative gene for Gray Platelet Syndrome Albers, Cornelis A Cvejic, Ana Favier, Rémi Bouwmans, Evelien E Alessi, Marie-Christine Bertone, Paul Jordan, Gregory Kettleborough, Ross NW Kiddle, Graham Kostadima, Myrto Read, Randy J Sipos, Botond Sivapalaratnam, Suthesh Smethurst, Peter A Stephens, Jonathan Voss, Katrin Nurden, Alan Rendon, Augusto Nurden, Paquita Ouwehand, Willem H Nat Genet Article Gray platelet syndrome (GPS) is a predominantly recessive platelet disorder characterized by a 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 cases and identified as the causative gene NBEAL2, a gene with previously unknown function but a member of a gene family involved in granule development. Silencing of nbeal2 in zebrafish abrogated thrombocyte formation. 2011-07-17 /pmc/articles/PMC3428934/ /pubmed/21765411 http://dx.doi.org/10.1038/ng.885 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article Albers, Cornelis A Cvejic, Ana Favier, Rémi Bouwmans, Evelien E Alessi, Marie-Christine Bertone, Paul Jordan, Gregory Kettleborough, Ross NW Kiddle, Graham Kostadima, Myrto Read, Randy J Sipos, Botond Sivapalaratnam, Suthesh Smethurst, Peter A Stephens, Jonathan Voss, Katrin Nurden, Alan Rendon, Augusto Nurden, Paquita Ouwehand, Willem H Exome sequencing identifies NBEAL2 as the causative gene for Gray Platelet Syndrome |
| title | Exome sequencing identifies NBEAL2 as the causative gene for Gray Platelet Syndrome |
| title_full | Exome sequencing identifies NBEAL2 as the causative gene for Gray Platelet Syndrome |
| title_fullStr | Exome sequencing identifies NBEAL2 as the causative gene for Gray Platelet Syndrome |
| title_full_unstemmed | Exome sequencing identifies NBEAL2 as the causative gene for Gray Platelet Syndrome |
| title_short | Exome sequencing identifies NBEAL2 as the causative gene for Gray Platelet Syndrome |
| title_sort | exome sequencing identifies nbeal2 as the causative gene for gray platelet syndrome |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428934/ https://www.ncbi.nlm.nih.gov/pubmed/21765411 http://dx.doi.org/10.1038/ng.885 |
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