Varaico: Literature-Extracted Genetic Variants

Gene:LIG4
Variant:p.Y288C
Back to variants list

LIG4

NM_206937.2:p.Y288C

Associated Papers

Promoted Misrejoining of X-ray Radiation-induced DNA Double-Strand Breaks in Novel DNA Ligase IV-Deficient Mouse Cells.

Kawata M et al.

Radiation Research, 2026

DNA damage and repair: underlying mechanisms leading to microcephaly.

Ribeiro JH et al.

Frontiers in Cell and Developmental Biology, 2023

Spatiotemporal Gradient of Cortical Neuron Death Contributes to Microcephaly in Knock-In Mouse Model of Ligase 4 Syndrome.

Lun MP et al.

The American Journal of Pathology, 2019

DNA-PKcs, ATM, and ATR Interplay Maintains Genome Integrity during Neurogenesis.

Enriquez-Rios V et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2017

Genetic predisposition for beta cell fragility underlies type 1 and type 2 diabetes.

Dooley J et al.

Nature Genetics, 2016

The DNA Ligase IV Syndrome R278H Mutation Impairs B Lymphopoiesis via Error-Prone Nonhomologous End-Joining.

Park J et al.

Journal of Immunology (baltimore, Md. : 1950), 2016

Congenital microcephaly.

Alcantara D et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014

PRKDC mutations in a SCID patient with profound neurological abnormalities.

Woodbine L et al.

The Journal of Clinical Investigation, 2013

Genetic polymorphisms of DNA double-strand break repair pathway genes and glioma susceptibility.

Zhao P et al.

Bmc Cancer, 2013

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

Structural insights into the role of domain flexibility in human DNA ligase IV.

Ochi T et al.

Structure (london, England : 1993), 2012

Requirement for DNA ligase IV during embryonic neuronal development.

Gatz SA et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011

[Relationship between genetic polymorphisms of DAT1 VNTR and cancer with abnormal Hilit].

Peng X et al.

Wei Sheng Yan Jiu = Journal of Hygiene Research, 2010

Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome.

Rucci F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

Ligase IV syndrome.

Chistiakov DA

Advances in Experimental Medicine and Biology, 2010

Impaired lymphocyte development and antibody class switching and increased malignancy in a murine model of DNA ligase IV syndrome.

Nijnik A et al.

The Journal of Clinical Investigation, 2009

Unravelling the association of partial T-cell immunodeficiency and immune dysregulation.

Liston A et al.

Nature Reviews. Immunology, 2008

DNA-damage repair; the good, the bad, and the ugly.

Hakem R

The Embo Journal, 2008

DNA double-strand break repair and development.

Phillips ER et al.

Oncogene, 2007

DNA repair is limiting for haematopoietic stem cells during ageing.

Nijnik A et al.

Nature, 2007

Ligase IV syndrome.

Chistiakov DA et al.

European Journal of Medical Genetics, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."