Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression-Reference-Cited by-同舟云学术

Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression

Published:2018-07-23 Issue:8 Volume:128 Page:3517-3534
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:

Author:

Aziz Khaled,Sieben Cynthia J.,Jeganathan Karthik B.,Hamada Masakazu,Davies Brian A.,Velasco Raul O. Fierro,Rahman Nazneen,Katzmann David J.,van Deursen Jan M.

Funder

National Institutes of Health

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Link

https://www.jci.org/articles/view/120316/files/pdf

Reference66 articles.

1. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

2. A primary microcephaly protein complex forms a ring around parental centrioles

3. Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

4. Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

5. CEP152 is a genome maintenance protein disrupted in Seckel syndrome

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