(Q35768395)

10 August 2017

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations (English)

1 reference

10 August 2017

ataxia telangiectasia

1 reference

inferred from title

author

Dominique Stoppa-Lyonnet

series ordinal

7

object named as

Dominique Stoppa-Lyonnet

0 references

Virginie Jacquemin

series ordinal

1

object named as

Virginie Jacquemin

1 reference

10 August 2017

8

Marc-Henri Stern

1 reference

10 August 2017

6

Anthony Laugé

1 reference

10 August 2017

4

Dorine Bellanger

1 reference

10 August 2017

2

Guillaume Rieunier

1 reference

10 August 2017

Sandrine Jacob

3

1 reference

10 August 2017

Catherine Dubois d'Enghien

series ordinal

5

1 reference

10 August 2017

language of work or name

1 reference

9 November 2011

1 reference

European Journal of Human Genetics

10 August 2017

1 reference

10 August 2017

20

1 reference

10 August 2017

305-312

1 reference

10 August 2017

3

1 reference

describes a project that uses

10 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3283185/fullTextXML

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.196

0 references

cites work

mTORC1 signaling under hypoxic conditions is controlled by ATM-dependent phosphorylation of HIF-1α.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

ATM activation by oxidative stress

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

ATM signals to TSC2 in the cytoplasm to regulate mTORC1 in response to ROS

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

Cytoplasmic ATM in neurons modulates synaptic function

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

Chromatin relaxation in response to DNA double-strand breaks is modulated by a novel ATM- and KAP-1 dependent pathway

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

Identification of domains of ataxia-telangiectasia mutated required for nuclear localization and chromatin association.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

Ataxia-telangiectasia, an evolving phenotype

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

Caspases and mitochondria in c-Myc-induced apoptosis: identification of ATM as a new target of caspases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

Localization of a portion of extranuclear ATM to peroxisomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

Cleavage and inactivation of ATM during apoptosis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

Analysis of the ATM protein in wild-type and ataxia telangiectasia cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

Predominance of null mutations in ataxia-telangiectasia.

12 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.196

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.196

Clinical spectrum of ataxia-telangiectasia in adulthood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.196

Modeling ATM mutant proteins from missense changes confirms retained kinase activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.196

Evaluation of in silico splice tools for decision-making in molecular diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.196

A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.196

Detection of DNA damage in individual cells by analysis of histone H2AX phosphorylation

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283185

Cleavage of ATM during radiation-induced apoptosis: caspase-3-like apoptotic protease as a candidate

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22071889

12 December 2020

inferred from PubMed ID database lookup

High frequencies of inversions and translocations of chromosomes 7 and 14 in ataxia telangiectasia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22071889

12 December 2020

inferred from PubMed ID database lookup

Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22071889

12 December 2020

inferred from PubMed ID database lookup

Diversity ofATM gene mutations detected in patients with ataxia-telangiectasia

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.196

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2011.196

1 reference

Dimensions Publication ID

10 August 2017

0 references

1 reference

10 August 2017

1 reference