(Q61171861)

1

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Veronica Marrella

2

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Cristina Sobacchi

3

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Francesca Rucci

4

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Laura Fariselli

5

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Silvia Giliani

6

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Gaetana Lanzi

7

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Luigi?D. Notarangelo

8

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Domenico Delia

9

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Roberto Colombo

10

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Paolo Vezzoni

11

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Anna Villa

European Journal of Immunology

12

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language of work or name

English

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publication date

April 2005

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published in

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volume

35

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issue

4

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page(s)

1250-1256

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1250-6

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cites work

RAG mutations in human B cell-negative SCID.

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200425555

7 January 2021

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200425555

7 January 2021

Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200425555

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200425555

7 January 2021

Growth retardation and leaky SCID phenotype of Ku70-deficient mice.

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200425555

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200425555

7 January 2021

Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200425555

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200425555

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200425555

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200425555

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200425555

7 January 2021

Functional and biochemical dissection of the structure-specific nuclease ARTEMIS

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200425555

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200425555

7 January 2021

A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200425555

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200425555

7 January 2021

Metallo-beta-lactamase fold within nucleic acids processing enzymes: the beta-CASP family

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200425555

7 January 2021

Disruption of mouse SNM1 causes increased sensitivity to the DNA interstrand cross-linking agent mitomycin C

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200425555

7 January 2021

DNA double-strand breaks: signaling, repair and the cancer connection

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200425555

7 January 2021

N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200425555

7 January 2021