(Q40802404)

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Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.

scientific article published on 29 May 2001

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11382771%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11382771%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

ataxia telangiectasia

1 reference

based on heuristic

inferred from title

Grant S Stewart

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11382771%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Tatjana Stankovic

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11382771%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

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J I Last

2

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Europe PubMed Central

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8 November 2019

N Haites

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11382771%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

A M Kidd

5

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Europe PubMed Central

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8 November 2019

P J Byrd

6

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11382771%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

A M Taylor

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11382771%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

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29 May 2001

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Europe PubMed Central

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8 November 2019

Journal of Biological Chemistry

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11382771%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

276

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Europe PubMed Central

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8 November 2019

32

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8 November 2019

30133-30141

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11382771%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Predominance of null mutations in ataxia-telangiectasia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Human Rad50 is physically associated with human Mre11: identification of a conserved multiprotein complex implicated in recombinational DNA repair

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Ataxia telangiectasia mutant protein activates c-Abl tyrosine kinase in response to ionizing radiation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Enhanced phosphorylation of p53 by ATM in response to DNA damage

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Activation of the ATM kinase by ionizing radiation and phosphorylation of p53

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Characterization of ATM expression, localization, and associated DNA-dependent protein kinase activity

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Rapid ATM-dependent phosphorylation of MDM2 precedes p53 accumulation in response to DNA damage

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Substrate specificities and identification of putative substrates of ATM kinase family members

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Ataxia telangiectasia-mutated phosphorylates Chk2 in vivo and in vitro

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

ATM-dependent phosphorylation of nibrin in response to radiation exposure

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

The Nijmegen breakage syndrome protein is essential for Mre11 phosphorylation upon DNA damage

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Regulation of p53 in response to DNA damage

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

A role for ATR in the DNA damage-induced phosphorylation of p53

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

DNA damage induces phosphorylation of the amino terminus of p53

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Activation of the c-Abl tyrosine kinase in the stress response to DMA-damaging agents

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Interaction between ATM protein and c-Abl in response to DNA damage

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Requirement for Atm in ionizing radiation-induced cell death in the developing central nervous system

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Atm and Bax cooperate in ionizing radiation-induced apoptosis in the central nervous system

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Abnormal development of Purkinje cells and lymphocytes in Atm mutant mice

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Defective neurogenesis resulting from DNA ligase IV deficiency requires Atm

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

ATM binds to beta-adaptin in cytoplasmic vesicles

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

β-NAP, a cerebellar degeneration antigen, is a neuron-specific vesicle coat protein

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

V(D)J recombination activates a p53-dependent DNA damage checkpoint in scid lymphocyte precursors.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Mutations in the p53 and SCID genes cooperate in tumorigenesis.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Interplay of p53 and DNA-repair protein XRCC4 in tumorigenesis, genomic stability and development

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

The Jnk1 and Jnk2 protein kinases are required for regional specific apoptosis during early brain development

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M103160200

21 January 2018

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