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Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
Using exome sequencing and a variant prioritisation strategy that focuses on loss-of-function variants, we identified biallelic, loss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies. CEP57 is a centrosomal protein and is involved in nucleating and stabilizing microtubule...
| 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/PMC3508359/ https://www.ncbi.nlm.nih.gov/pubmed/21552266 http://dx.doi.org/10.1038/ng.822 |
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| author | Snape, Katie Hanks, Sandra Ruark, Elise Barros-Núňez, Patricio Elliott, Anna Murray, Anne Lane, Andrew H Shannon, Nora Callier, Patrick Chitayat, David Clayton-Smith, Jill FitzPatrick, David Gisselsson, David Jacquemont, Sebastien Asakura-Hay, Keiko Micale, Mark Tolmie, John Turnpenny, Peter Wright, Michael Douglas, Jenny Rahman, Nazneen |
| author_facet | Snape, Katie Hanks, Sandra Ruark, Elise Barros-Núňez, Patricio Elliott, Anna Murray, Anne Lane, Andrew H Shannon, Nora Callier, Patrick Chitayat, David Clayton-Smith, Jill FitzPatrick, David Gisselsson, David Jacquemont, Sebastien Asakura-Hay, Keiko Micale, Mark Tolmie, John Turnpenny, Peter Wright, Michael Douglas, Jenny Rahman, Nazneen |
| author_sort | Snape, Katie |
| collection | PubMed |
| description | Using exome sequencing and a variant prioritisation strategy that focuses on loss-of-function variants, we identified biallelic, loss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies. CEP57 is a centrosomal protein and is involved in nucleating and stabilizing microtubules. Our data indicate that these and/or additional functions of CEP57 are crucial in maintaining correct chromosomal number during cell division. |
| format | Online Article Text |
| id | pubmed-3508359 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2011 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-35083592012-11-28 Mutations in CEP57 cause mosaic variegated aneuploidy syndrome Snape, Katie Hanks, Sandra Ruark, Elise Barros-Núňez, Patricio Elliott, Anna Murray, Anne Lane, Andrew H Shannon, Nora Callier, Patrick Chitayat, David Clayton-Smith, Jill FitzPatrick, David Gisselsson, David Jacquemont, Sebastien Asakura-Hay, Keiko Micale, Mark Tolmie, John Turnpenny, Peter Wright, Michael Douglas, Jenny Rahman, Nazneen Nat Genet Article Using exome sequencing and a variant prioritisation strategy that focuses on loss-of-function variants, we identified biallelic, loss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies. CEP57 is a centrosomal protein and is involved in nucleating and stabilizing microtubules. Our data indicate that these and/or additional functions of CEP57 are crucial in maintaining correct chromosomal number during cell division. 2011-05-08 2011-06 /pmc/articles/PMC3508359/ /pubmed/21552266 http://dx.doi.org/10.1038/ng.822 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 Snape, Katie Hanks, Sandra Ruark, Elise Barros-Núňez, Patricio Elliott, Anna Murray, Anne Lane, Andrew H Shannon, Nora Callier, Patrick Chitayat, David Clayton-Smith, Jill FitzPatrick, David Gisselsson, David Jacquemont, Sebastien Asakura-Hay, Keiko Micale, Mark Tolmie, John Turnpenny, Peter Wright, Michael Douglas, Jenny Rahman, Nazneen Mutations in CEP57 cause mosaic variegated aneuploidy syndrome |
| title | Mutations in CEP57 cause mosaic variegated aneuploidy syndrome |
| title_full | Mutations in CEP57 cause mosaic variegated aneuploidy syndrome |
| title_fullStr | Mutations in CEP57 cause mosaic variegated aneuploidy syndrome |
| title_full_unstemmed | Mutations in CEP57 cause mosaic variegated aneuploidy syndrome |
| title_short | Mutations in CEP57 cause mosaic variegated aneuploidy syndrome |
| title_sort | mutations in cep57 cause mosaic variegated aneuploidy syndrome |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3508359/ https://www.ncbi.nlm.nih.gov/pubmed/21552266 http://dx.doi.org/10.1038/ng.822 |
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