(Q44575368)

4 December 2017

title

Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination (English)

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4 December 2017

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Hans E Krokan

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Hans D Ochs

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Bodil Kavli

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Wen-I Lee

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Shigeaki Nonoyama

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Nadia Catalan

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Leman Yel

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Monique Forveille

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4 December 2017

Alain Fischer

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4 December 2017

language of work or name

English

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publication date

7 September 2003

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4 December 2017

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4 December 2017

volume

4

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4 December 2017

issue

10

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4 December 2017

page(s)

1023-1028

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Mechanism and control of class-switch recombination

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cites work

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7 January 2021

Molecular mechanism of class switch recombination: linkage with somatic hypermutation

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7 January 2021

Linking class-switch recombination with somatic hypermutation

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7 January 2021

Hyper-IgM syndromes: a model for studying the regulation of class switch recombination and somatic hypermutation generation

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7 January 2021

Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM

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7 January 2021

CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM

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7 January 2021

The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome

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7 January 2021

CD40 Ligand Gene Defects Responsible for X-Linked Hyper-IgM Syndrome

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7 January 2021

Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

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7 January 2021

Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)

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7 January 2021

Specific expression of activation-induced cytidine deaminase (AID), a novel member of the RNA-editing deaminase family in germinal center B cells

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7 January 2021

Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme

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7 January 2021

DNA double-strand breaks: prior to but not sufficient in targeting hypermutation

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7 January 2021

AID is required to initiate Nbs1/gamma-H2AX focus formation and mutations at sites of class switching

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7 January 2021

AID mutates E. coli suggesting a DNA deamination mechanism for antibody diversification

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7 January 2021

Transcription-targeted DNA deamination by the AID antibody diversification enzyme

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7 January 2021

Activation-induced cytidine deaminase deaminates deoxycytidine on single-stranded DNA but requires the action of RNase

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7 January 2021

Transcription enhances AID-mediated cytidine deamination by exposing single-stranded DNA on the nontemplate strand

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7 January 2021

Immunoglobulin isotype switching is inhibited and somatic hypermutation perturbed in UNG-deficient mice

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7 January 2021

Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination

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7 January 2021

Cell-cycle-regulated DNA double-stranded breaks in somatic hypermutation of immunoglobulin genes

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7 January 2021

Nuclear and mitochondrial uracil-DNA glycosylases are generated by alternative splicing and transcription from different positions in the UNG gene

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7 January 2021

Nuclear and mitochondrial splice forms of human uracil-DNA glycosylase contain a complex nuclear localisation signal and a strong classical mitochondrial localisation signal, respectively

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7 January 2021

Deficiency in Msh2 affects the efficiency and local sequence specificity of immunoglobulin class-switch recombination: parallels with somatic hypermutation.

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7 January 2021

Reduced isotype switching in splenic B cells from mice deficient in mismatch repair enzymes

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7 January 2021

CD40-deficient mice generated by recombination-activating gene-2-deficient blastocyst complementation.

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7 January 2021

Mice deficient for the CD40 ligand

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7 January 2021

The immune responses in CD40-deficient mice: impaired immunoglobulin class switching and germinal center formation

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7 January 2021

Altering the pathway of immunoglobulin hypermutation by inhibiting uracil-DNA glycosylase.

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7 January 2021

R-loops at immunoglobulin class switch regions in the chromosomes of stimulated B cells

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7 January 2021

The influence of transcriptional orientation on endogenous switch region function

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7 January 2021

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7 January 2021

De novo protein synthesis is required for the activation-induced cytidine deaminase function in class-switch recombination

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7 January 2021

Early onset brain tumor and lymphoma in MSH2-deficient children

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7 January 2021

Isolation and characterization of a human cDNA encoding uracil-DNA glycosylase

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7 January 2021

Excision of deaminated cytosine from the vertebrate genome: role of the SMUG1 uracil-DNA glycosylase

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7 January 2021

Cloning and expression of human G/T mismatch-specific thymine-DNA glycosylase

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7 January 2021

The thymine glycosylase MBD4 can bind to the product of deamination at methylated CpG sites

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7 January 2021

Cutting edge: the G-U mismatch glycosylase methyl-CpG binding domain 4 is dispensable for somatic hypermutation and class switch recombination

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7 January 2021

Sequence variation in the human uracil-DNA glycosylase (UNG) gene

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7 January 2021

Properties of a Recombinant Human Uracil-DNA Glycosylase from the UNG Gene and Evidence that UNG Encodes the Major Uracil-DNA Glycosylase

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7 January 2021

Identifiers

DOI

10.1038/NI974

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4 December 2017

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