Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination (Q36946520)

17 August 2017

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination (English)

1 reference

17 August 2017

7

Alain Fischer

0 references

Eamonn Sheridan

5

Eamonn Sheridan

0 references

Sophie Peron

Sophie Péron

1

0 references

Anne Durandy

Anne Durandy

8

0 references

Pauline Gardès

3

Pauline Gardès

1 reference

17 August 2017

Ayse Metin

2

1 reference

17 August 2017

Marie-Alexandra Alyanakian

4

1 reference

17 August 2017

Eamonn Sheridan

5

1 reference

17 August 2017

Christian Peter Kratz

6

1 reference

17 August 2017

language of work or name

English

0 references

publication date

29 September 2008

1 reference

Journal of Experimental Medicine

17 August 2017

1 reference

17 August 2017

205

1 reference

17 August 2017

11

1 reference

17 August 2017

2465-2472

1 reference

Mechanism and regulation of class switch recombination

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

APE1- and APE2-dependent DNA breaks in immunoglobulin class switch recombination.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

IgH class switching and translocations use a robust non-classical end-joining pathway

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

Mutations affecting a putative MutLalpha endonuclease motif impact multiple mismatch repair functions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

Role for Msh5 in the regulation of Ig class switch recombination

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

Somatic hypermutation and class switch recombination in Msh6(-/-)Ung(-/-) double-knockout mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

Reconstitution of 5'-directed human mismatch repair in a purified system

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

Mismatch recognition and uracil excision provide complementary paths to both Ig switching and the A/T-focused phase of somatic mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

A role for Msh6 but not Msh3 in somatic hypermutation and class switch recombination

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

Dimerization of MLH1 and PMS2 Limits Nuclear Localization of MutLα

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

Role for mismatch repair proteins Msh2, Mlh1, and Pms2 in immunoglobulin class switching shown by sequence analysis of recombination junctions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

Switch junction sequences in PMS2-deficient mice reveal a microhomology-mediated mechanism of Ig class switch recombination.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

Different mismatch repair deficiencies all have the same effects on somatic hypermutation: intact primary mechanism accompanied by secondary modifications

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

Hypermutation in Ig V genes from mice deficient in the MLH1 mismatch repair protein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

Activation-induced cytidine deaminase-dependent DNA breaks in class switch recombination occur during G1 phase of the cell cycle and depend upon mismatch repair

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

Endonucleolytic function of MutLalpha in human mismatch repair.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

Long-range PCR facilitates the identification of PMS2-specific mutations.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

PMS2 mutations in childhood cancer

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

Impact of DNA ligase IV on nonhomologous end joining pathways during class switch recombination in human cells.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

The block in immunoglobulin class switch recombination caused by activation-induced cytidine deaminase deficiency occurs prior to the generation of DNA double strand breaks in switch mu region

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571921

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

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1084%2FJEM.20080789

Childhood T-cell non-Hodgkin's lymphoma, colorectal carcinoma and brain tumor in association with café-au-lait spots caused by a novel homozygous PMS2 mutation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18824584

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

MutLalpha: at the cutting edge of mismatch repair

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18824584

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1084/JEM.20080789

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

18824584

1 reference