Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review-Reference-Cited by-同舟云学术

Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review

Published:2017-07-24 Issue:6 Volume:37 Page:575-581
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Sheikh Farrukh,Hawwari Abbas,Alhissi Safa,Al Gazlan Sulaiman,Al Dhekri Hasan,Rehan Khaliq Agha M.,Borrero Esteban,El-Baik Lina,Arnaout Rand,Al-Mousa Hamoud,Alazami Anas M.

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

http://link.springer.com/article/10.1007/s10875-017-0423-5/fulltext.html

Reference24 articles.

1. Burma S, Chen BP, Chen DJ. Role of non-homologous end joining (NHEJ) in maintaining genomic integrity. DNA Repair (Amst). 2006;5(9–10):1042–8.

2. Ahnesorg P, Smith P, Jackson SP. XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. Cell. 2006;124(2):301–13.

3. Lu H, et al. Length-dependent binding of human XLF to DNA and stimulation of XRCC4.DNA ligase IV activity. J Biol Chem. 2007;282(15):11155–62.

4. Tsai CJ, Kim SA, Chu G. Cernunnos/XLF promotes the ligation of mismatched and noncohesive DNA ends. Proc Natl Acad Sci U S A. 2007;104(19):7851–6.

5. Deshpande RA, Wilson TE. Modes of interaction among yeast Nej1, Lif1 and Dnl4 proteins and comparison to human XLF, XRCC4 and Lig4. DNA Repair (Amst). 2007;6(10):1507–16.

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