Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin-Reference-Cited by-同舟云学术

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

Published:2015-03-02 Issue:4 Volume:47 Page:338-344
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Izumi Kosuke,Nakato Ryuichiro,Zhang Zhe,Edmondson Andrew C,Noon Sarah,Dulik Matthew C,Rajagopalan Ramakrishnan,Venditti Charles P,Gripp Karen^ORCID,Samanich Joy,Zackai Elaine H,Deardorff Matthew A,Clark Dinah,Allen Julian L,Dorsett Dale,Misulovin Ziva,Komata Makiko,Bando Masashige,Kaur Maninder,Katou Yuki,Shirahige Katsuhiko,Krantz Ian D

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.3229.pdf

Reference42 articles.

1. Lin, C. et al. Dynamic transcriptional events in embryonic stem cells mediated by the super elongation complex (SEC). Genes Dev. 25, 1486–1498 (2011).

2. Yamaguchi, Y., Shibata, H. & Handa, H. Transcription elongation factors DSIF and NELF: promoter-proximal pausing and beyond. Biochim. Biophys. Acta 1829, 98–104 (2013).

3. Heidemann, M., Hintermair, C., Voß, K. & Eick, D. Dynamic phosphorylation patterns of RNA polymerase II CTD during transcription. Biochim. Biophys. Acta 1829, 55–62 (2013).

4. Lin, C. et al. AFF4, a component of the ELL/P-TEFb elongation complex and a shared subunit of MLL chimeras, can link transcription elongation to leukemia. Mol. Cell 37, 429–437 (2010).

5. Liu, J. & Krantz, I.D. Cornelia de Lange syndrome, cohesin, and beyond. Clin. Genet. 76, 303–314 (2009).

Cited by 117 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Proteome-scale prediction of molecular mechanisms underlying dominant genetic diseases;PLOS ONE;2024-08-22

2. Cohesin — bridging the gap among gene transcription, genome stability, and human diseases;FEBS Letters;2024-06-09

3. Rapid P-TEFb-dependent transcriptional reorganization underpins the glioma adaptive response to radiotherapy;Nature Communications;2024-05-30

4. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles;Genome Medicine;2024-05-30

5. Espectro Cornelia de Lange;Anales de Pediatría;2024-05