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Journal Article
Human Mutation, ISSN 1059-7794, 01/2012, Volume 33, Issue 1, pp. 198 - 208
A recent challenge for investigators studying the progressive neurological disease ataxia-telangiectasia (A-T) is to identify mutations whose effects might be... 
ATM | Large genomic deletions | Ataxia-telangiectasia | Functional analysis of DNA variants | Mutationtargeted therapy | Japanese ATM mutation | POPULATION | ACTIVATION | DNA-DAMAGE | HAPLOTYPES | large genomic deletions | 55-PERCENT | ataxia-telangiectasia | functional analysis of DNA variants | GENE | EXONIC SPLICING ENHANCERS | FAMILIES | VIVO-MORPHOLINOS | GENETICS & HEREDITY | mutation-targeted therapy | AUTOPHOSPHORYLATION | Sequence Deletion | Frameshift Mutation | Oligodeoxyribonucleotides, Antisense - pharmacology | Exons | Humans | Morpholinos - therapeutic use | Molecular Sequence Data | Molecular Targeted Therapy | RNA Splicing | DNA-Binding Proteins - agonists | T-Lymphocytes - metabolism | DNA Mutational Analysis | Gentamicins - pharmacology | T-Lymphocytes - drug effects | Base Sequence | Tumor Suppressor Proteins - genetics | Cell Cycle Proteins - genetics | Ataxia Telangiectasia - drug therapy | T-Lymphocytes - pathology | Cell Line | Gentamicins - therapeutic use | Protein-Serine-Threonine Kinases - genetics | Oligodeoxyribonucleotides, Antisense - therapeutic use | Ataxia Telangiectasia Mutated Proteins | Cell Cycle Proteins - agonists | Codon, Nonsense | DNA-Binding Proteins - genetics | Asian Continental Ancestry Group | Pedigree | Morpholinos - pharmacology | Ataxia Telangiectasia - genetics | Heterozygote | Aminoglycosides - pharmacology | Tumor Suppressor Proteins - agonists | Aminoglycosides - therapeutic use
Journal Article
Journal Article
Free Radical Biology and Medicine, ISSN 0891-5849, 2009, Volume 47, Issue 3, pp. 250 - 260
Journal Article
Journal Article
Journal of Clinical Oncology, ISSN 0732-183X, 05/2018, Volume 36, Issue 15_suppl, pp. e24178 - e24178
Journal Article
Clinical Cancer Research, ISSN 1078-0432, 04/2007, Volume 13, Issue 8, pp. 2344 - 2353
Purpose: The expression of suppressors of cytokine signaling 1 (SOCS1) and SOCS3 genes is dysregulated in several solid tumors, causing aberrant activation of... 
ABERRANT METHYLATION | SIGNALING PATHWAYS | CONSTITUTIVE EXPRESSION | ONCOLOGY | CYTOKINE SIGNALING-3 | CELL LYMPHOMA | EPIDERMAL-GROWTH-FACTOR | IN-VIVO | HUMAN HEPATOCELLULAR-CARCINOMA | FACTOR RECEPTOR | NEGATIVE REGULATOR
Journal Article
Cancer Research, ISSN 0008-5472, 07/2017, Volume 77, Issue 13 Supplement, pp. 4683 - 4683
Journal Article
Journal Article
Radiotherapy and Oncology, ISSN 0167-8140, 10/2011, Volume 101, Issue 1, p. 35
DNA repair assays to identify radiosensitive patients have had limited clinical implementation due to long turn-around times or limited specificity. This study... 
Medical colleges | Analysis
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 07/2014, Volume 2, Issue 4, pp. 332 - 340
We studied 10 Mennonite patients who carry the c.6200C>A missense mutation (p.A2067D) in the ATM gene, all of whom exhibited a phenotypic variant of... 
cancer susceptibility | telangiectasia | dystonia | radiosensitivity | Ataxia | ATM | cDNA | missense mutation | sequencing | Proteins | Haplotypes | Chemotherapy | Genes | Mutation | Kinases | Cancer | cDNA sequencing | Original
Journal Article
Journal of Molecular Biology, ISSN 0022-2836, 2006, Volume 362, Issue 2, pp. 173 - 183
Journal Article