(Q53255032)

12 May 2018

title

Abnormalities in DNA double-strand break response beyond primary immunodeficiency. (English)

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12 May 2018

Shinichiro Nakada

1

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publication date

12 April 2011

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12 May 2018

International Journal of Hematology

published in

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12 May 2018

volume

93

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12 May 2018

issue

4

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12 May 2018

page(s)

425-433

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12 May 2018

https://scigraph.springernature.com/pub.10.1007/s12185-011-0836-5

exact match

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cites work

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RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination

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Somatic generation of antibody diversity

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

21 January 2018

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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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AID mediates hypermutation by deaminating single stranded DNA.

21 January 2018

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Processive AID-catalysed cytosine deamination on single-stranded DNA simulates somatic hypermutation

21 January 2018

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Mismatch repair converts AID-instigated nicks to double-strand breaks for antibody class-switch recombination

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

DNA-PKcs and Artemis function in the end-joining phase of immunoglobulin heavy chain class switch recombination

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

The Artemis:DNA-PKcs endonuclease cleaves DNA loops, flaps, and gaps

21 January 2018

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The mechanism of human nonhomologous DNA end joining

21 January 2018

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

21 January 2018

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

21 January 2018

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Requirement of the MRN complex for ATM activation by DNA damage

21 January 2018

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ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex

21 January 2018

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DNA double-stranded breaks induce histone H2AX phosphorylation on serine 139

21 January 2018

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ATM phosphorylates histone H2AX in response to DNA double-strand breaks

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

RNF8 ubiquitylates histones at DNA double-strand breaks and promotes assembly of repair proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

RNF8 transduces the DNA-damage signal via histone ubiquitylation and checkpoint protein assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Orchestration of the DNA-damage response by the RNF8 ubiquitin ligase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

A critical role for the ubiquitin-conjugating enzyme Ubc13 in initiating homologous recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes

21 January 2018

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The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

RNF168 binds and amplifies ubiquitin conjugates on damaged chromosomes to allow accumulation of repair proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Non-canonical inhibition of DNA damage-dependent ubiquitination by OTUB1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

RAP80 targets BRCA1 to specific ubiquitin structures at DNA damage sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Ubiquitin-binding protein RAP80 mediates BRCA1-dependent DNA damage response

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Structural basis for specific recognition of Lys 63-linked polyubiquitin chains by tandem UIMs of RAP80

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Methylation of histone H4 lysine 20 controls recruitment of Crb2 to sites of DNA damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Genetic dissection of vertebrate 53BP1: a major role in non-homologous end joining of DNA double strand breaks

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Brca1 controls homology-directed DNA repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

DNA double strand break repair defects, primary immunodeficiency disorders, and 'radiosensitivity'.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

RAG mutations in human B cell-negative SCID.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Partial V(D)J recombination activity leads to Omenn syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Omenn syndrome due to ARTEMIS mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

ATM damage response and XLF repair factor are functionally redundant in joining DNA breaks

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Rnf8 deficiency impairs class switch recombination, spermatogenesis, and genomic integrity and predisposes for cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Class switching and meiotic defects in mice lacking the E3 ubiquitin ligase RNF8

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

53BP1 links DNA damage-response pathways to immunoglobulin heavy chain class-switch recombination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

53BP1 facilitates long-range DNA end-joining during V(D)J recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

53BP1 promotes non-homologous end joining of telomeres by increasing chromatin mobility

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Immunodeficiency and infections in ataxia-telangiectasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8-year follow-up study in a single centre.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Immunoglobulin class switch recombination is impaired in Atm-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

ATM is required for efficient recombination between immunoglobulin switch regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Genomic instability, endoreduplication, and diminished Ig class-switch recombination in B cells lacking Nbs1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Genomic instability in mice lacking histone H2AX

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

MDC1 maintains genomic stability by participating in the amplification of ATM-dependent DNA damage signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

H2AX prevents DNA breaks from progressing to chromosome breaks and translocations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Role of genomic instability and p53 in AID-induced c-myc-Igh translocations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0836-5

Histone H2AX: a dosage-dependent suppressor of oncogenic translocations and tumors

21 January 2018

1 reference

12 December 2020

Nbs1 promotes ATM dependent phosphorylation events including those required for G1/S arrest

1 reference

12 December 2020

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

1 reference

12 December 2020

Mechanism and regulation of class switch recombination

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial Reticuloendotheliosis with Eosinophilia

1 reference

12 December 2020

10.1007/S12185-011-0836-5

Identifiers

DOI

1 reference

12 May 2018

1 reference

12 May 2018