Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
(2011) In Nature Genetics 43(6). p.527-529- Abstract
- Using exome sequencing and a variant prioritization 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 findings indicate that these and/or additional functions of CEP57 are crucial for maintaining correct chromosomal number during cell division.
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https://lup.lub.lu.se/record/1985853
- author
- organization
- publishing date
- 2011
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Nature Genetics
- volume
- 43
- issue
- 6
- pages
- 527 - 529
- publisher
- Nature Publishing Group
- external identifiers
-
- wos:000291017000008
- scopus:79957612407
- pmid:21552266
- ISSN
- 1546-1718
- DOI
- 10.1038/ng.822
- language
- English
- LU publication?
- yes
- id
- b1768494-b728-4b98-a5d9-61962594b3cb (old id 1985853)
- date added to LUP
- 2016-04-01 14:08:15
- date last changed
- 2022-03-21 22:22:33
@article{b1768494-b728-4b98-a5d9-61962594b3cb, abstract = {{Using exome sequencing and a variant prioritization 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 findings indicate that these and/or additional functions of CEP57 are crucial for maintaining correct chromosomal number during cell division.}}, author = {{Snape, Katie and Hanks, Sandra and Ruark, Elise and Barros-Nunez, Patricio and Elliott, Anna and Murray, Anne and Lane, Andrew H. and Shannon, Nora and Callier, Patrick and Chitayat, David and Clayton-Smith, Jill and FitzPatrick, David R. and Gisselsson Nord, David and Jacquemont, Sebastien and Asakura-Hay, Keiko and Micale, Mark A. and Tolmie, John and Turnpenny, Peter D. and Wright, Michael and Douglas, Jenny and Rahman, Nazneen}}, issn = {{1546-1718}}, language = {{eng}}, number = {{6}}, pages = {{527--529}}, publisher = {{Nature Publishing Group}}, series = {{Nature Genetics}}, title = {{Mutations in CEP57 cause mosaic variegated aneuploidy syndrome}}, url = {{http://dx.doi.org/10.1038/ng.822}}, doi = {{10.1038/ng.822}}, volume = {{43}}, year = {{2011}}, }