Published in J Pediatr on June 01, 2002
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet (2010) 2.74
Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes. Clin Chem (2009) 1.63
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. Am J Hum Genet (2016) 1.41
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum Mol Genet (2008) 1.37
Clinical radiation sensitivity with DNA repair disorders: an overview. Int J Radiat Oncol Biol Phys (2009) 1.36
Nonaminoglycoside compounds induce readthrough of nonsense mutations. J Exp Med (2009) 1.31
Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia. Cell Death Differ (2011) 1.21
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. Hum Mutat (2009) 1.18
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. Neurology (2012) 1.17
Radioprotective effects of manganese-containing superoxide dismutase mimics on ataxia-telangiectasia cells. Free Radic Biol Med (2009) 1.11
Extreme growth failure is a common presentation of ligase IV deficiency. Hum Mutat (2013) 1.08
ATM-NF-kappaB connection as a target for tumor radiosensitization. Curr Cancer Drug Targets (2007) 1.06
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders. PLoS One (2014) 0.95
Arginine-rich cell-penetrating peptide dramatically enhances AMO-mediated ATM aberrant splicing correction and enables delivery to brain and cerebellum. Hum Mol Genet (2011) 0.93
A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene. Mol Ther (2013) 0.92
Ataxia telangiectasia: a review. Orphanet J Rare Dis (2016) 0.88
ATM-dependent MiR-335 targets CtIP and modulates the DNA damage response. PLoS Genet (2013) 0.87
Assessing 'radiosensitivity' with kinetic profiles of γ-H2AX, 53BP1 and BRCA1 foci. Radiother Oncol (2011) 0.85
SMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic models. Ann N Y Acad Sci (2012) 0.84
Comprehensive profiling of radiosensitive human cell lines with DNA damage response assays identifies the neutral comet assay as a potential surrogate for clonogenic survival. Radiat Res (2011) 0.83
p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes. J Clin Invest (2013) 0.83
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs). J Clin Immunol (2015) 0.82
ISG15 deregulates autophagy in genotoxin-treated ataxia telangiectasia cells. J Biol Chem (2012) 0.82
ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype. Hum Genet (2005) 0.80
Cellular responses to ionising radiation of AT heterozygotes: differences between missense and truncating mutation carriers. Br J Cancer (2004) 0.79
Radiation therapy and adjuvant chemotherapy in a patient with a malignant glioneuronal tumor and underlying ataxia telangiectasia: a case report and review of the literature. J Clin Oncol (2012) 0.79
Chromosome instability and oxidative stress markers in patients with ataxia telangiectasia and their parents. Biomed Res Int (2013) 0.78
Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology. J Pediatr (2012) 0.78
Radiation Sensitivity and Radiation Necrosis in the Short Telomere Syndromes. Int J Radiat Oncol Biol Phys (2015) 0.78
Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report. Am J Case Rep (2015) 0.78
A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity. Mol Genet Genomic Med (2014) 0.77
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. J Clin Invest (2016) 0.77
Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks. Cell Death Dis (2014) 0.75
Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing. Eur J Pediatr (2006) 0.75
Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168. Front Immunol (2017) 0.75
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell (2006) 5.33
Efficacy of folic acid supplementation in stroke prevention: a meta-analysis. Lancet (2007) 4.74
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Chern semimetal and the quantized anomalous Hall effect in HgCr2Se4. Phys Rev Lett (2011) 2.74
Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst) (2004) 2.35
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) (2010) 2.33
LAD-1/variant syndrome is caused by mutations in FERMT3. Blood (2008) 2.22
Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. Science (2012) 2.06
Study design: evaluating gene-environment interactions in the etiology of breast cancer - the WECARE study. Breast Cancer Res (2004) 2.03
Upregulation of SATB1 promotes tumor growth and metastasis in liver cancer. Liver Int (2012) 2.02
Genetics, cytokines and human infectious disease: lessons from weakly pathogenic mycobacteria and salmonellae. Nat Genet (2002) 1.98
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest (2003) 1.93
Radiation exposure, the ATM Gene, and contralateral breast cancer in the women's environmental cancer and radiation epidemiology study. J Natl Cancer Inst (2010) 1.91
Natural history and early diagnosis of LAD-1/variant syndrome. Blood (2006) 1.85
ATM is down-regulated by N-Myc-regulated microRNA-421. Proc Natl Acad Sci U S A (2010) 1.85
Impact of DNA ligase IV on nonhomologous end joining pathways during class switch recombination in human cells. J Exp Med (2005) 1.84
Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans. J Infect Dis (2004) 1.71
Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. Proc Natl Acad Sci U S A (2004) 1.64
Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes. Clin Chem (2009) 1.63
The mutation spectrum in RECQL4 diseases. Eur J Hum Genet (2008) 1.61
Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. J Cell Biol (2007) 1.59
A randomised comparison of a novel abluminal groove-filled biodegradable polymer sirolimus-eluting stent with a durable polymer everolimus-eluting stent: clinical and angiographic follow-up of the TARGET I trial. EuroIntervention (2013) 1.53
Long-term survival in severe combined immune deficiency: the role of persistent maternal engraftment. J Pediatr (2005) 1.53
Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths. Hum Mutat (2004) 1.53
Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families. J Pediatr (2002) 1.52
Reactive semiconductor nanocrystals for chemoselective biolabeling and multiplexed analysis. ACS Nano (2011) 1.51
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. Clin Immunol (2004) 1.51
Discovery of molecular mechanisms of traditional Chinese medicinal formula Si-Wu-Tang using gene expression microarray and connectivity map. PLoS One (2011) 1.49
Genetic testing as part of the early hearing detection and intervention (EHDI) process. Genet Med (2004) 1.48
Hereditary C1q deficiency: a new family with C1qA deficiency. Turk J Pediatr (2010) 1.46
MicroRNAs: new players in the DNA damage response. J Mol Cell Biol (2010) 1.46
Plasma catecholamine release-inhibitory peptide catestatin in patients with essential hypertension. J Cardiovasc Med (Hagerstown) (2011) 1.41
Resveratrol differentially modulates inflammatory responses of microglia and astrocytes. J Neuroinflammation (2010) 1.41
Using a standardized follow-up program to improve coronary heart disease secondary prevention. Anatol J Cardiol (2015) 1.39
Intrinsic mitochondrial dysfunction in ATM-deficient lymphoblastoid cells. Hum Mol Genet (2007) 1.37
ATM-deficient thymic lymphoma is associated with aberrant tcrd rearrangement and gene amplification. J Exp Med (2010) 1.36
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol (2010) 1.36
Clinical radiation sensitivity with DNA repair disorders: an overview. Int J Radiat Oncol Biol Phys (2009) 1.36
Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer. Hum Mutat (2003) 1.33
Nonaminoglycoside compounds induce readthrough of nonsense mutations. J Exp Med (2009) 1.31
Inherited and acquired immunodeficiencies underlying tuberculosis in childhood. Immunol Rev (2015) 1.29
Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression. Mol Genet Metab (2003) 1.27
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. Hum Mol Genet (2004) 1.24
DNA modification by sulfur: analysis of the sequence recognition specificity surrounding the modification sites. Nucleic Acids Res (2007) 1.23
Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides. Proc Natl Acad Sci U S A (2007) 1.22
Circulating and tumor-infiltrating myeloid-derived suppressor cells in patients with colorectal carcinoma. PLoS One (2013) 1.22
HLA-DRB1 and -DQB1 loci in three west African ethnic groups: genetic relationship with sub-Saharan African and European populations. Hum Immunol (2009) 1.22
ATM is not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch mu region. J Immunol (2003) 1.21
Ataxia-telangiectasia: diagnosis and treatment. Semin Pediatr Neurol (2003) 1.20
Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions. Blood (2013) 1.18
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A (2007) 1.16
AID-induced genotoxic stress promotes B cell differentiation in the germinal center via ATM and LKB1 signaling. Mol Cell (2010) 1.16
Radiologic-pathologic analysis of contrast-enhanced and diffusion-weighted MR imaging in patients with HCC after TACE: diagnostic accuracy of 3D quantitative image analysis. Radiology (2014) 1.14
Comparison of automated nucleic acid extraction methods with manual extraction. J Mol Diagn (2008) 1.14
Activation of ATM and Chk2 kinases in relation to the amount of DNA strand breaks. Oncogene (2004) 1.12
SMC1 involvement in fragile site expression. Hum Mol Genet (2005) 1.11
Radioprotective effects of manganese-containing superoxide dismutase mimics on ataxia-telangiectasia cells. Free Radic Biol Med (2009) 1.11
DNA phosphorothioation in Streptomyces lividans: mutational analysis of the dnd locus. BMC Microbiol (2009) 1.09
Extreme growth failure is a common presentation of ligase IV deficiency. Hum Mutat (2013) 1.08
Skewed T-cell receptor repertoire, decreased thymic output, and predominance of terminally differentiated T cells in ataxia telangiectasia. Blood (2002) 1.07
Improved HIV-1 RNA quantitation by COBAS AmpliPrep/COBAS TaqMan HIV-1 Test, v2.0 using a novel dual-target approach. J Clin Virol (2010) 1.06
Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination. J Clin Invest (2003) 1.06
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. Hum Mutat (2011) 1.05
Phosphorothioate DNA as an antioxidant in bacteria. Nucleic Acids Res (2012) 1.03
Combination of carotid intima-media thickness and plaque for better predicting risk of ischaemic cardiovascular events. Heart (2011) 1.03
A novel target of IscS in Escherichia coli: participating in DNA phosphorothioation. PLoS One (2012) 1.02
High-throughput screening identifies two classes of antibiotics as radioprotectors: tetracyclines and fluoroquinolones. Clin Cancer Res (2009) 1.02
Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report. Ital J Pediatr (2010) 1.01
Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage. Cancer Sci (2005) 1.01
Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia. Br Med Bull (2007) 1.01
Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a. Hum Mutat (2005) 1.01
Isocitrate dehydrogenase 1/2 mutational analyses and 2-hydroxyglutarate measurements in Wilms tumors. Pediatr Blood Cancer (2010) 1.01
Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency. Eur J Pediatr (2008) 1.00
Variants in the ATM gene associated with a reduced risk of contralateral breast cancer. Cancer Res (2008) 1.00
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. Hum Mutat (2003) 1.00
Primacy of the 3B approach to control risk factors for cardiovascular disease in type 2 diabetes patients. Am J Med (2013) 0.99
Structural insights into DndE from Escherichia coli B7A involved in DNA phosphorothioation modification. Cell Res (2012) 0.99
Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor beta1 deficient patients and evidence for the existence of partial IL-12 receptor beta1 deficiency. Eur J Immunol (2003) 0.99
Case-control study of risk factors for no light perception after open-globe injury: eye injury vitrectomy study. Retina (2011) 0.99
Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan. Int J Hematol (2009) 0.99
Superiority of the Bryan(®) disc prosthesis for cervical myelopathy: a randomized study with 3-year followup. Clin Orthop Relat Res (2011) 0.99
DNA double strand break repair defects, primary immunodeficiency disorders, and 'radiosensitivity'. Curr Opin Allergy Clin Immunol (2009) 0.98
ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects. Hum Mutat (2003) 0.97
Papillary thyroid carcinoma shows elevated levels of 2-hydroxyglutarate. Tumour Biol (2010) 0.97
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene. Am J Med Genet A (2009) 0.96
A lean laboratory: operational simplicity and cost effectiveness of the Luminex xTAG™ respiratory viral panel. J Mol Diagn (2011) 0.96
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide. Neurogenetics (2012) 0.96
Differential biological role of CD3 chains revealed by human immunodeficiencies. J Immunol (2007) 0.95
Prevalence and associated factors of diabetes and impaired fasting glucose in Chinese hypertensive adults aged 45 to 75 years. PLoS One (2012) 0.95
Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency. Clin Infect Dis (2013) 0.95
Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia. PLoS One (2008) 0.95
Rapid screen for truncating ATM mutations by PTT-ELISA. Mutat Res (2008) 0.94
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions. Hum Mutat (2006) 0.94
Aberrant overexpression of miR-421 downregulates ATM and leads to a pronounced DSB repair defect and clinical hypersensitivity in SKX squamous cell carcinoma. Radiother Oncol (2012) 0.94
IL-12 receptor deficiency revisited: IL-23-mediated signaling is also impaired in human genetic IL-12 receptor beta1 deficiency. Eur J Immunol (2003) 0.94
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. Proc Natl Acad Sci U S A (2013) 0.93
Stable brain ATM message and residual kinase-active ATM protein in ataxia-telangiectasia. J Neurosci (2011) 0.93