Varaico: Literature-Extracted Genetic Variants

Gene:PRKDC
Variant:p.L3062R
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PRKDC

NM_006904.7:p.L3062R

Associated Papers

Human DNA-dependent protein kinase catalytic subunit deficiency: A comprehensive review and update.

Adelon J et al.

The Journal of Allergy and Clinical Immunology, 2024

DNA-PKcs is required for cGAS/STING-dependent viral DNA sensing in human cells.

Hristova DB et al.

Iscience, 2024

Structural analysis of the basal state of the Artemis:DNA-PKcs complex.

Watanabe G et al.

Nucleic Acids Research, 2022

Physical ARTEMIS:DNA-PKcs interaction is necessary for V(D)J recombination.

Niewolik D et al.

Nucleic Acids Research, 2022

Uncovering DNA-PKcs ancient phylogeny, unique sequence motifs and insights for human disease.

Lees-Miller JP et al.

Progress in Biophysics and Molecular Biology, 2021

DNA-Dependent Protein Kinase Catalytic Subunit: The Sensor for DNA Double-Strand Breaks Structurally and Functionally Related to Ataxia Telangiectasia Mutated.

Matsumoto Y et al.

Genes, 2021

Function and Molecular Mechanism of the DNA Damage Response in Immunity and Cancer Immunotherapy.

Ye Z et al.

Frontiers in Immunology, 2021

DNA-PK deficiency potentiates cGAS-mediated antiviral innate immunity.

Sun X et al.

Nature Communications, 2020

DNA-PKcs chemical inhibition versus genetic mutation: Impact on the junctional repair steps of V(D)J recombination.

Anne Esguerra Z et al.

Molecular Immunology, 2020

ATM, ATR and DNA-PKcs kinases-the lessons from the mouse models: inhibition ≠ deletion.

Menolfi D et al.

Cell & Bioscience, 2020

Two siblings with PRKDC defect who presented with cutaneous granulomas and review of the literature.

Esenboga S et al.

Clinical Immunology (orlando, Fla.), 2018

Newly recognized Mendelian disorders with rheumatic manifestations.

de Jesus AA et al.

Current Opinion in Rheumatology, 2015

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.

Mathieu AL et al.

The Journal of Allergy and Clinical Immunology, 2015

Congenital defects in V(D)J recombination.

de Villartay JP

British Medical Bulletin, 2015

The catalytic subunit of DNA-dependent protein kinase is required for cellular resistance to oxidative stress independent of DNA double-strand break repair.

Li M et al.

Free Radical Biology & Medicine, 2014

DNA-PKcs is required to maintain stability of Chk1 and Claspin for optimal replication stress response.

Lin YF et al.

Nucleic Acids Research, 2014

DNA double strand break repair via non-homologous end-joining.

Davis AJ et al.

Translational Cancer Research, 2013

Diseases associated with defective responses to DNA damage.

O'Driscoll M

Cold Spring Harbor Perspectives in Biology, 2012

Essential role for DNA-PK-mediated phosphorylation of NR4A nuclear orphan receptors in DNA double-strand break repair.

Malewicz M et al.

Genes & Development, 2011

Genetics of SCID.

Cossu F

Italian Journal of Pediatrics, 2010

A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensitivity in a patient with xeroderma pigmentosum.

Abbaszadeh F et al.

Journal of Medical Genetics, 2010

Radiosensitive severe combined immunodeficiency disease.

Dvorak CC et al.

Immunology and Allergy Clinics of North America, 2010

DNA-PKcs deficiency in human: long predicted, finally found.

van der Burg M et al.

Current Opinion in Allergy and Clinical Immunology, 2009

A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.

van der Burg M et al.

The Journal of Clinical Investigation, 2009

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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."