(Q27007538)

language of work or name

1 reference

February 2012

1 reference

Annals of the New York Academy of Sciences

published in

1 reference

volume

1250

1 reference

page(s)

33-40

1 reference

Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Single nucleotide polymorphisms associated with risk for contralateral breast cancer in the Women's Environment, Cancer, and Radiation Epidemiology (WECARE) Study

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

The ATM protein kinase and cellular redox signaling: beyond the DNA damage response

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Synthesis and evaluation of compounds that induce readthrough of premature termination codons

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Nonaminoglycoside compounds induce readthrough of nonsense mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Introducing sense into nonsense in treatments of human genetic diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Characterization of molecular mechanisms underlying mutations in dystrophic epidermolysis bullosa using site-directed mutagenesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

PTC124 targets genetic disorders caused by nonsense mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Aminoglycoside-induced translational read-through in disease: overcoming nonsense mutations by pharmacogenetic therapy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Drug evaluation: PTC-124--a potential treatment of cystic fibrosis and Duchenne muscular dystrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Analysis of the contribution of individual substituents in 4,6-aminoglycoside-ribosome interaction

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Effects of a number of classes of 50S inhibitors on stop codon readthrough during protein synthesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Readthrough of dystrophin stop codon mutations induced by aminoglycosides

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

RNA CODEWORDS AND PROTEIN SYNTHESIS, V. EFFECT OF STREPTOMYCIN ON THE FORMATION OF RIBOSOME-sRNA COMPLEXES

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

STREPTOMYCIN, SUPPRESSION, AND THE CODE

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

PHENOTYPIC REPAIR BY STREPTOMYCIN OF DEFECTIVE GENOTYPES IN E. COLI

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Early diagnosis of ataxia-telangiectasia using radiosensitivity testing

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Heterozygous ATM mutations do not contribute to early onset of breast cancer

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3754805

A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia

31 May 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2012.06467.X

Rapid screen for truncating ATM mutations by PTT-ELISA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2012.06467.X

Immunoassay to measure ataxia-telangiectasia mutated protein in cellular lysates

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2012.06467.X

High incidence of protein-truncating TP53 mutations in BRCA1-related breast cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2012.06467.X

A high-throughput nonisotopic protein truncation test

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/22364446

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Misreading of RNA codewords induced by aminoglycoside antibiotics

1 reference

https://pubmed.ncbi.nlm.nih.gov/22364446

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Incidence of cancer in 161 families affected by ataxia-telangiectasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22364446

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/J.1749-6632.2012.06467.X

1 reference

1 reference

1 reference

PubMed publication ID

22364446

1 reference