Associated Papers
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.
Jauch AJ et al.
The Journal of Allergy and Clinical Immunology, 2023
Hypomorphic mutations in human DNA ligase IV lead to compromised DNA binding efficiency, hydrophobicity and thermal stability.
Maddi ER et al.
Protein Engineering, Design & Selection : Peds, 2021
Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population.
Luo X et al.
Frontiers in Immunology, 2021
Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.
Staines Boone AT et al.
Frontiers in Pediatrics, 2018
Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.
Fadda A et al.
Bmc Medical Genetics, 2016
The spatial organization of non-homologous end joining: from bridging to end joining.
Ochi T et al.
Dna Repair, 2014
Reprint of "The clinical impact of deficiency in DNA non-homologous end-joining".
Woodbine L et al.
Dna Repair, 2014
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.
Stewart DR et al.
Plos One, 2014
24892279 (PubMed )
Supplement: pone.0098686.s006.xlsx › Sheet1
Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.
IJspeert H et al.
Human Mutation, 2013
24027040 (PubMed )
Supplement: humu0034-1611-sd1.pdf
Structure of the catalytic region of DNA ligase IV in complex with an Artemis fragment sheds light on double-strand break repair.
Ochi T et al.
Structure (london, England : 1993), 2013
Ligase IV syndrome.
Chistiakov DA
Advances in Experimental Medicine and Biology, 2010
DNA damage and repair: from molecular mechanisms to health implications.
Altieri F et al.
Antioxidants & Redox Signaling, 2008
Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome.
Toita N et al.
American Journal of Medical Genetics. Part A, 2007
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