Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies (Q58610783)

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1 May 2020

title

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies (English)

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Chitra Dinakar

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Charlotte Cunningham-Rundles

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Lin Radigan

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Jean-Laurent Casanova

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Erwin W Gelfand

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Austen Worth

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Kerstin Felgentreff

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Patrick Maffucci

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Jose Chavez

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Thomas J Jurkiw

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Patrick J O'Brien

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Paul R Reynolds

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Patricia Cortes

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Mohammad Ehlayel

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Tawfeg Ben-Omran

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language of work or name

English

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publication date

5 November 2018

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Journal of Clinical Investigation

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published in

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volume

128

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issue

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page(s)

5489-5504

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describes a project that uses

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cites work

Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene

1 reference

12 December 2020

Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents

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Relative increase of T cells expressing the gamma/delta rather than the alpha/beta receptor in ataxia-telangiectasia

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Altered formation of DNA in human cells treated with inhibitors of DNA topoisomerase II (etoposide and teniposide)

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DNA ligase: structure, mechanism, and function

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Multiple hypersensitivity to mutagens in a cell strain (46BR) derived from a patient with immuno-deficiencies

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A biochemical defect in the repair of alkylated DNA in cells from an immunodeficient patient (46BR).

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Adult presentation of adenosine deaminase deficiency

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Aberrant DNA repair and DNA replication due to an inherited enzymatic defect in human DNA ligase I

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Recognition and processing of damaged DNA.

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Structure and function of mammalian DNA ligases

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DNA ligase IV is essential for V(D)J recombination and DNA double-strand break repair in human precursor lymphocytes

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DNA ligases in the repair and replication of DNA.

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12 December 2020

DNA ligase I null mouse cells show normal DNA repair activity but altered DNA replication and reduced genome stability

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ATP-dependent DNA ligases

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12 December 2020

Replication failure, genome instability, and increased cancer susceptibility in mice with a point mutation in the DNA ligase I gene

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12 December 2020

Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study

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12 December 2020

Human DNA ligase I completely encircles and partially unwinds nicked DNA

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12 December 2020

Translocation of XRCC1 and DNA ligase IIIalpha from centrosomes to chromosomes in response to DNA damage in mitotic human cells

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12 December 2020

DNA ligase III as a candidate component of backup pathways of nonhomologous end joining

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12 December 2020

A variant of SCID with specific immune responses and predominance of gamma delta T cells

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12 December 2020

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

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12 December 2020

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.

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Megaloblastic anemia and other causes of macrocytosis

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Development and selection of gammadelta T cells

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Clonogenic assay of cells in vitro.

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12 December 2020

Sealing of chromosomal DNA nicks during nucleotide excision repair requires XRCC1 and DNA ligase III alpha in a cell-cycle-specific manner

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12 December 2020

DNA ligase I deficiency leads to replication-dependent DNA damage and impacts cell morphology without blocking cell cycle progression.

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12 December 2020

Fast and accurate short read alignment with Burrows-Wheeler transform

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12 December 2020

A framework for variation discovery and genotyping using next-generation DNA sequencing data

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12 December 2020

Kinetic mechanism of human DNA ligase I reveals magnesium-dependent changes in the rate-limiting step that compromise ligation efficiency

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12 December 2020

DNA ligase III: a spotty presence in eukaryotes, but an essential function where tested

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12 December 2020

Close link between development and function of gamma-delta T cells

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12 December 2020

Identity by descent between distant relatives: detection and applications

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12 December 2020

DNA ligases I and III cooperate in alternative non-homologous end-joining in vertebrates

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12 December 2020

Stable expression clones and auto-induction for protein production in E. coli.

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12 December 2020

DNA ligase I is not essential for mammalian cell viability

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Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders

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Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease

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γδ T Lymphocytes in the Diagnosis of Human T Cell Receptor Immunodeficiencies

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12 December 2020

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.

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12 December 2020

Redundant function of DNA ligase 1 and 3 in alternative end-joining during immunoglobulin class switch recombination

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12 December 2020

Ligase I and ligase III mediate the DNA double-strand break ligation in alternative end-joining

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12 December 2020

The mutation significance cutoff: gene-level thresholds for variant predictions

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12 December 2020

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

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Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals

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Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

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DNA ligase IV syndrome; a review

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12 December 2020

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.

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12 December 2020

Identifiers

DOI

10.1172/JCI99629

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1 May 2020

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1 May 2020

PubMed publication ID

30395541

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