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[Revise subclass] ataxia-telangiectasia-like disorder 1 should be is-a DNA repair disorder? #8436

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ValWood opened this issue Nov 24, 2024 · 0 comments

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ValWood commented Nov 24, 2024

Mondo term (ID and Label)

MONDO:0024557 ataxia-telangiectasia-like disorder

Suggested revision and reasons

add is_a

DNA repair disease" (MONDO:0021190) ?
 
Human syndromes with genomic instability and multiprotein machines that repair DNA double-strand breaks.
De la Torre C, Pincheira J, López-Sáez JF.
Histol Histopathol. 2003 Jan;18(1):225-43. doi: 10.14670/HH-18.225.
PMID: 12507302 Review.

 
Regulation of Mre11/Rad50 by Nbs1: effects on nucleotide-dependent DNA binding and association with ataxia-telangiectasia-like disorder mutant complexes.
Lee JH, Ghirlando R, Bhaskara V, Hoffmeyer MR, Gu J, Paull TT.
J Biol Chem. 2003 Nov 14;278(46):45171-81. doi: 10.1074/jbc.M308705200. Epub 2003 Sep 8.
PMID: 12966088 

Mre11-Rad50-Nbs1 is a keystone complex connecting DNA repair machinery, double-strand break signaling, and the chromatin template.
Williams RS, Williams JS, Tainer JA.
Biochem Cell Biol. 2007 Aug;85(4):509-20. doi: 10.1139/O07-069.
PMID: 17713585 Review.

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