(Q36331599)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

severe combined immunodeficiency

27 February 2020

main subject

1 reference

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Michela Di Virgilio

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Qiang Pan-Hammarström

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

23

Michael Hummel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

21

Lennart Hammarström

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

26

Bodo Grimbacher

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

17

Sevgi Keles

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

3

Ismail Reisli

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

7

Alejandro A Schäffer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

4

Alla Bulashevska

1 reference

27 February 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

22

Marta Rizzi

1 reference

27 February 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

Timo Volk

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Ulrich Pannicke

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Julia Ritter

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Andrea Björkman

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Manfred Fliegauf

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Esra H Sayar

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Paul Fisch

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Dietmar Pfeifer

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Hongzhi Cao

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Fang Yang

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Karin Zimmermann

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Zafer Caliskaner

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

S Ükrü Güner

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Detlev Schindler

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Klaus Schwarz

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

publication date

16 October 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

issue

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

page(s)

7361-7372

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity

27 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Donor CD4 T Cell Diversity Determines Virus Reactivation in Patients After HLA-Matched Allogeneic Stem Cell Transplantation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

IgH chain class switch recombination: mechanism and regulation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Fast gapped-read alignment with Bowtie 2

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

The variant call format and VCFtools

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Mapping of switch recombination junctions, a tool for studying DNA repair pathways during immunoglobulin class switching

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

A method and server for predicting damaging missense mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

A homozygous CARD9 mutation in a family with susceptibility to fungal infections

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Non-homologous end joining in class switch recombination: the beginning of the end

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Functional and biochemical dissection of the structure-specific nuclease ARTEMIS

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

The metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

RAG mutations in human B cell-negative SCID.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Deficiency of innate and acquired immunity caused by an IKBKB mutation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Involvement of Artemis in nonhomologous end-joining during immunoglobulin class switch recombination

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be tested

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

MiTCR: software for T-cell receptor sequencing data analysis.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

An immunodeficiency disease with RAG mutations and granulomas

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Defective Artemis nuclease is characterized by coding joints with microhomology in long palindromic-nucleotide stretches

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664172

Regulation of switching and production of IgA in human B cells in donors with duplicated alpha1 genes

22 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Reduced immunoglobulin class switch recombination in the absence of Artemis

1 reference

12 December 2020

An Artemis polymorphic variant reduces Artemis activity and confers cellular radiosensitivity

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDV437

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26476407%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference