(Q33678784)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20805886%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20805886%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

Qiang Pan-Hammarström

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20805886%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

4

Reuben S Harris

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20805886%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

3

Lennart Hammarström

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20805886%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

author name string

Steven M Offer

series ordinal

1

1 reference

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13 February 2020

language of work or name

English

0 references

publication date

18 August 2010

1 reference

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13 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20805886%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20805886%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

issue

8

1 reference

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13 February 2020

page(s)

e12260

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20805886%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

13 February 2020

copyright license

start time

18 August 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

DNA Repair in mammalian cells: Mismatched repair: variations on a theme

1 reference

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21 June 2018

Hypogammaglobulinaemia

1 reference

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Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

The catalytic subunit of DNA-dependent protein kinase regulates proliferation, telomere length, and genomic stability in human somatic cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Mechanism and regulation of class switch recombination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Antibody deficiency diseases.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Antibody diversification by somatic mutation: from Burnet onwards

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Deconstructing common variable immunodeficiency by genetic analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Role for Msh5 in the regulation of Ig class switch recombination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

An antibody-deficiency syndrome due to mutations in the CD19 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

AID in somatic hypermutation and class switch recombination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Immunoglobulin gene diversification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Correspondence of function and phylogeny of ABC proteins based on an automated analysis of 20 model protein data sets.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Efficiency and power in genetic association studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Inducible DNA breaks in Ig S regions are dependent on AID and UNG

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

TACI is mutant in common variable immunodeficiency and IgA deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Haploview: analysis and visualization of LD and haplotype maps

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Examination of Msh6- and Msh3-deficient mice in class switching reveals overlapping and distinct roles of MutS homologues in antibody diversification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Class-switch recombination: interplay of transcription, DNA deamination and DNA repair

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

AID: how does it aid antibody diversity?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Facile methods for generating human somatic cell gene knockouts using recombinant adeno-associated viruses

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Msh2 ATPase activity is essential for somatic hypermutation at a-T basepairs and for efficient class switch recombination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Transcription-targeted DNA deamination by the AID antibody diversification enzyme

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Crystal structures of mismatch repair protein MutS and its complex with a substrate DNA

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Transformation of MutL by ATP binding and hydrolysis: a switch in DNA mismatch repair

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

The tumor spectrum in HNPCC.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

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

21 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012260

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012260

Delineation of the role of the Mre11 complex in class switch recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012260

Family and linkage study of selective IgA deficiency and common variable immunodeficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012260

Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012260

Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012260

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923613

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer

30 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012260

Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1

21 January 2018

1 reference

12 December 2020

Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6

1 reference

12 December 2020

Novel mutations in a Japanese patient with CD19 deficiency

1 reference

12 December 2020

Missense mutations in hMLH1 associated with colorectal cancer

1 reference

12 December 2020

Alternative end joining during switch recombination in patients with ataxia-telangiectasia

1 reference

12 December 2020

Hereditary colorectal cancer

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0012260

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20805886%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20805886%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

PubMed publication ID

20805886

1 reference