Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks (Q30413950)

21 August 2017

Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks (English)

1 reference

21 August 2017

1 reference

1 reference

21 August 2017

P Concannon

0 references

N T Martin

1 reference

21 August 2017

K Nakamura

1 reference

21 August 2017

U Paila

1 reference

21 August 2017

J Woo

1 reference

21 August 2017

C Brown

1 reference

21 August 2017

J A Wright

1 reference

21 August 2017

S N Teraoka

1 reference

21 August 2017

S Haghayegh

1 reference

21 August 2017

D McCurdy

1 reference

21 August 2017

M Schneider

1 reference

21 August 2017

H Hu

1 reference

21 August 2017

R A Gatti

1 reference

21 August 2017

20 March 2014

1 reference

21 August 2017

Cell Death and Disease

1 reference

21 August 2017

1 reference

21 August 2017

e1130

1 reference

GEMINI: integrative exploration of genetic variation and genome annotations

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

ATM-dependent MiR-335 targets CtIP and modulates the DNA damage response

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

α-Lipoic acid ameliorates mitochondrial impairment and reverses apoptosis in FABP3-overexpressing embryonic cancer cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Role of 53BP1 oligomerization in regulating double-strand break repair

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Predicting functional effect of human missense mutations using PolyPhen-2.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Direct and indirect antioxidant properties of α-lipoic acid and therapeutic potential.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Redox modulation of the DNA damage response

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

BRCA1-associated exclusion of 53BP1 from DNA damage sites underlies temporal control of DNA repair

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Oxidatively generated complex DNA damage: tandem and clustered lesions.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

DNA damage induces reactive oxygen species generation through the H2AX-Nox1/Rac1 pathway.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Comprehensive profiling of radiosensitive human cell lines with DNA damage response assays identifies the neutral comet assay as a potential surrogate for clonogenic survival

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Assessing 'radiosensitivity' with kinetic profiles of γ-H2AX, 53BP1 and BRCA1 foci

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

RAP80-directed tuning of BRCA1 homologous recombination function at ionizing radiation-induced nuclear foci

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Structural basis for dimerization and activity of human PAPD1, a noncanonical poly(A) polymerase

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

BRCA1, PARP, and 53BP1: conditional synthetic lethality and synthetic viability

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Defective mitochondrial mRNA maturation is associated with spastic ataxia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Expression of DNA repair and apoptosis genes in mitochondrial mutant and normal cells following exposure to ionizing radiation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Mitochondrial gene expression changes in normal and mitochondrial mutant cells after exposure to ionizing radiation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Bisbenzamidine derivative, pentamidine represses DNA damage response through inhibition of histone H2A acetylation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Role of oxidatively induced DNA lesions in human pathogenesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Clinical radiation sensitivity with DNA repair disorders: an overview

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Mitochondrial mutant cells are hypersensitive to ionizing radiation, phleomycin and mitomycin C.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

N-acetyl cysteine protects against ionizing radiation-induced DNA damage but not against cell killing in yeast and mammals

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

CtIP-BRCA1 modulates the choice of DNA double-strand-break repair pathway throughout the cell cycle.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

How mitochondria produce reactive oxygen species

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Stable PNPase RNAi silencing: its effect on the processing and adenylation of human mitochondrial RNA

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Intrinsic mitochondrial dysfunction in ATM-deficient lymphoblastoid cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Roles of ATM and NBS1 in chromatin structure modulation and DNA double-strand break repair

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Multiparameter metabolic analysis reveals a close link between attenuated mitochondrial bioenergetic function and enhanced glycolysis dependency in human tumor cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

BRCA1 regulates RAD51 function in response to DNA damage and suppresses spontaneous sister chromatid replication slippage: implications for sister chromatid cohesion, genome stability, and carcinogenesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Oxidative stress as a multiple effector in Fanconi anaemia clinical phenotype

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

DNA damage-induced activation of ATM and ATM-dependent signaling pathways

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Phosphorylation of SMC1 is a critical downstream event in the ATM-NBS1-BRCA1 pathway

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Requirement of the MRN complex for ATM activation by DNA damage

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Insights into DNA recombination from the structure of a RAD51-BRCA2 complex

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Early diagnosis of ataxia-telangiectasia using radiosensitivity testing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

The inherited basis of human radiosensitivity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Cell cycle checkpoint signaling through the ATM and ATR kinases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

A critical role for histone H2AX in recruitment of repair factors to nuclear foci after DNA damage

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Structural biology of Rad50 ATPase: ATP-driven conformational control in DNA double-strand break repair and the ABC-ATPase superfamily

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

A novel assay for apoptosis. Flow cytometric detection of phosphatidylserine expression on early apoptotic cells using fluorescein labelled Annexin V

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973239

Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1.

20 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FCDDIS.2014.99

Mitochondria-targeted superoxide dismutase (SOD2) regulates radiation resistance and radiation stress response in HeLa cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FCDDIS.2014.99

Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FCDDIS.2014.99

Refinement of the dichlorofluorescein assay for flow cytometric measurement of reactive oxygen species in irradiated and bystander cell populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FCDDIS.2014.99

Quantitative microplate-based respirometry with correction for oxygen diffusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FCDDIS.2014.99

Involvement of Intracellular Reactive Oxygen Species and Mitochondria in the Radiosensitivity of Human Hematopoietic Stem Cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FCDDIS.2014.99

Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FCDDIS.2014.99

Analysis of dihydroethidium fluorescence for the detection of intracellular and extracellular superoxide produced by NADPH oxidase

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24651433

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/CDDIS.2014.99

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

24651433

1 reference