(Q33733794)

29 July 2017

title

Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome (English)

1 reference

29 July 2017

main subject

DNA ligase IV deficiency

1 reference

1 reference

Marton Keszei

9

0 references

Pietro Luigi Poliani

object named as

Pietro Luigi Poliani

13

0 references

Luigi D Notarangelo

2

object named as

Luigi D Notarangelo

1 reference

29 July 2017

18

Shan Zha

1 reference

29 July 2017

Francesca Rucci

1

1 reference

29 July 2017

Alex Fazeli

3

1 reference

29 July 2017

Laura Patrizi

4

1 reference

29 July 2017

Thomas Hickernell

5

1 reference

29 July 2017

Tiziana Paganini

6

1 reference

29 July 2017

Kristen M Coakley

7

1 reference

29 July 2017

Cynthia Detre

8

1 reference

29 July 2017

Jolan E Walter

10

1 reference

29 July 2017

Lauren Feldman

11

1 reference

29 July 2017

Hwei-Ling Cheng

12

1 reference

29 July 2017

Jing H Wang

14

1 reference

29 July 2017

Barbara B Balter

15

1 reference

29 July 2017

Mike Recher

16

1 reference

29 July 2017

Emma-Maria Andersson

17

1 reference

29 July 2017

Silvia Giliani

19

1 reference

29 July 2017

Cox Terhorst

20

1 reference

29 July 2017

Frederick W Alt

21

1 reference

29 July 2017

Catherine T Yan

22

1 reference

29 July 2017

language of work or name

English

0 references

publication date

1 February 2010

1 reference

Proceedings of the National Academy of Sciences of the United States of America

29 July 2017

published in

1 reference

29 July 2017

volume

107

1 reference

29 July 2017

issue

7

1 reference

29 July 2017

page(s)

3024-3029

1 reference

Impaired lymphocyte development and antibody class switching and increased malignancy in a murine model of DNA ligase IV syndrome.

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn 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=2840307

A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

XLF-Cernunnos promotes DNA ligase IV-XRCC4 re-adenylation following ligation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

Lymphocyte-specific compensation for XLF/cernunnos end-joining functions in V(D)J 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=2840307

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

Homeostatically proliferating CD4 T cells are involved in the pathogenesis of an Omenn syndrome murine model

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn 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=2840307

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 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=2840307

Mechanism and control of V(D)J recombination versus class switch recombination: similarities and differences

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

Artemis and p53 cooperate to suppress oncogenic N-myc amplification in progenitor B 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=2840307

Mechanism and regulation of human non-homologous DNA end-joining

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

Impact of DNA ligase IV on the fidelity of end joining in human 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=2840307

Defective DNA repair and increased genomic instability in Artemis-deficient murine 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=2840307

Leaky Scid phenotype associated with defective V(D)J coding end processing in Artemis-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=2840307

Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J 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=2840307

Impaired nonhomologous end-joining provokes soft tissue sarcomas harboring chromosomal translocations, amplifications, and deletions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

DNA ligase IV mutations identified in patients exhibiting developmental delay and 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=2840307

Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune 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=2840307

DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

Recombination signal sequences restrict chromosomal V(D)J recombination beyond the 12/23 rule.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

The DNA-dependent protein 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=2840307

Catalytic subunit of DNA-dependent protein kinase: impact on lymphocyte development and tumorigenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

Targeted disruption of the gene encoding DNA ligase IV leads to lethality in embryonic 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=2840307

Late embryonic lethality and impaired V(D)J recombination in mice lacking DNA ligase IV

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

Ku70: a candidate tumor suppressor gene for murine T cell lymphoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

DNA-PKcs: a T-cell tumour suppressor encoded at the mouse scid locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

Growth retardation and leaky SCID phenotype of Ku70-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=2840307

Impaired CD19 expression and signaling, enhanced antibody response to type II T independent antigen and reduction of B-1 cells in CD81-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=2840307

Impairment of V(D)J recombination in double-strand break repair mutants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

Severe combined immunodeficiency (SCID) in the mouse. Pathology, reconstitution, neoplasms.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

A severe form of human combined immunodeficiency due to mutations in DNA ligase IV.

21 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914865107

Omenn syndrome is associated with mutations in DNA ligase IV.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914865107

A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914865107

Intra- and inter-allelic ordering of T cell receptor beta chain gene assembly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914865107

Excess BAFF rescues self-reactive B cells from peripheral deletion and allows them to enter forbidden follicular and marginal zone niches.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

Reduced competitiveness of autoantigen-engaged B cells due to increased dependence on BAFF.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840307

A targeted DNA-PKcs-null mutation reveals DNA-PK-independent functions for KU in V(D)J recombination

30 October 2018

1 reference

12 December 2020

Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome

1 reference

12 December 2020

Use of the intracellular fluorescent dye CFSE to monitor lymphocyte migration and proliferation

1 reference

12 December 2020

IgH class switch recombination to IgG1 in DNA-PKcs-deficient B cells

1 reference

12 December 2020

B lymphocyte life span, rate of division and differentiation are regulated by total cell number

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0914865107

1 reference

29 July 2017

0 references

1 reference

29 July 2017

1 reference