Si mostrano 100 riferimenti a partire da 1 |
Per ulteriori informazioni selezionare i riferimenti di interesse.
Sensitivity to camptothecin in Aspergillus nidulans identifies a novel gene, scaA(+), related to the cellular DNA damage response
MOLECULAR GENETICS AND GENOMICS
DNA damage processing defects and disease
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
Chromosome instability syndromes
BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
Ataxia telangiectasia: new neurons and ATM
TRENDS IN MOLECULAR MEDICINE
"Host factors" - evolution of concepts of individual sensitivity and susceptibility
INTERNATIONAL JOURNAL OF HYGIENE AND ENVIRONMENTAL HEALTH
Molecular genetics of human microcephaly
CURRENT OPINION IN NEUROLOGY
A DNA damage response pathway controlled by Tel1 and the Mre11 complex
MOLECULAR CELL
The pathogenesis of ataxia-telangiectasia - Learning from a Rosetta Stone
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
Characterization of a novel human SMC heterodimer homologous to the Schizosaccharomyces pombe Rad18/Apr18 complex
MOLECULAR BIOLOGY OF THE CELL
Unraveling DNA repair in human: Molecular mechanisms and consequences of repair defect
CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY
p53 contains a DNA break-binding motif similar to the functional part of BRCT-related region of Rb
ONCOGENE
Complementation of chromosomal aberrations in AT/NBS hybrids: inadequacy of RDS as an endpoint in complementation studies with immortal NBS cells
MUTATION RESEARCH-DNA REPAIR
High frequency of deletions at the hypoxanthine-guanine phosphoribosyltransferase locus in an ataxia-telangiectasia lymphoblastoid cell line irradiated with gamma-rays
JAPANESE JOURNAL OF CANCER RESEARCH
The yeast Xrs2 complex functions in S phase checkpoint regulation
GENES & DEVELOPMENT
Sources of variation in patient response to radiation treatment
INTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS
Juvenile rheumatoid arthritis-like polyarthritis in Nijmegen breakage syndrome
JOURNAL OF RHEUMATOLOGY
The inherited basis of human radiosensitivity
ACTA ONCOLOGICA
Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization
MOLECULAR AND CELLULAR BIOLOGY
Mre11 complex and DNA replication: Linkage to E2F and sites of DNA synthesist
MOLECULAR AND CELLULAR BIOLOGY
Chk2 activation dependence on Nbs1 after DNA damage
MOLECULAR AND CELLULAR BIOLOGY
Involvement of Brca1 in S-phase and G(2)-phase checkpoints after ionizing irradiation
MOLECULAR AND CELLULAR BIOLOGY
Intercellular distribution of aberrations detected by means of chromosome painting in cells of patients with cancer prone chromosome instability syndromes
EXPERIMENTAL ONCOLOGY
Genomic instability: potential contributions to tumour and normal tissue response, and second tumours, after radiotherapy
RADIOTHERAPY AND ONCOLOGY
No evidence for deletions of the NBS1 gene in lymphomas
CANCER GENETICS AND CYTOGENETICS
Combined immunodeficiency, chromosomal instability, and postnatal growth deficiency in a Japanese girl
AMERICAN JOURNAL OF MEDICAL GENETICS
Age-related changes of DNA damage recognition and repair capacity in cellsof the immune system
MECHANISMS OF AGEING AND DEVELOPMENT
RINT-1, a novel Rad50-interacting protein, participates in radiation-induced G(2)/M checkpoint control
JOURNAL OF BIOLOGICAL CHEMISTRY
Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T -> G mutations, showing a less severe phenotype
JOURNAL OF BIOLOGICAL CHEMISTRY
A novel nucleolar protein, NIFK, interacts with the forkhead associated domain of Ki-67 antigen in mitosis
JOURNAL OF BIOLOGICAL CHEMISTRY
Antitumor drug adozelesin differentially affects active and silent originsof DNA replication in yeast checkpoint kinase mutants
CANCER RESEARCH
The many substrates and functions of ATM
NATURE REVIEWS MOLECULAR CELL BIOLOGY
Identification of Rad51 alteration in patients with bilateral breast cancer
JOURNAL OF HUMAN GENETICS
The inherited susceptibility to cancer
CELLULAR AND MOLECULAR LIFE SCIENCES
Hypersensitivity to radiation-induced non-apoptotic and apoptotic death incell lines from patients with the ICF chromosome instability syndrome
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
The molecular basis of FHA Domain : Phosphopeptide binding specificity andimplications for phospho-dependent signaling mechanisms
MOLECULAR CELL
Ataxia-telangiectasia: Phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity
MOLECULAR GENETICS AND METABOLISM
Nijmegen breakage syndrome-associated T-cell-rich B-cell lymphoma: Case report
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
Allelic imbalance at NBS1 is frequent in both proximal and distal colorectal carcinoma
ONCOLOGY REPORTS
Checkpoints: It takes more than time to heal some wounds
CURRENT BIOLOGY
Sensing and responding to DNA damage
CURRENT OPINION IN GENETICS & DEVELOPMENT
Non-Hodgkin's lymphoma in pediatric patients with chromosomal breakage syndromes (AT and NBS): Experience from the BFM trials
ANNALS OF ONCOLOGY
The common deletion 657del5 in the Nibrin gene is not a major risk factor for B or T cell non-Hodgkin lymphoma in a pediatric population
LEUKEMIA
Signaling to p53: breaking the posttranslational modification code
PATHOLOGIE BIOLOGIE
The molecular basis and clinical management of ataxia telangiectasia
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
The MRE11-NBS1-RAD50 pathway is perturbed in SV40 large T antigen-immortalized AT-1, AT-2 and HL-1 cardiomyocytes
NUCLEIC ACIDS RESEARCH
Closing the gaps among a web of DNA repair disorders
BIOESSAYS
Absence of mutations in the NBS1 gene in B-cell malignant lymphoma patients
ANTICANCER RESEARCH
Four radiation hypersensitivity cases and their implications for clinical radiotherapy
RADIOTHERAPY AND ONCOLOGY
Linking DNA damage and neurodegeneration
TRENDS IN NEUROSCIENCES
V(D)J rearrangement in Nijmegen breakage syndrome
MOLECULAR IMMUNOLOGY
Normal V(D)J recombination in cells from patients with Nijmegen breakage syndrome
MOLECULAR IMMUNOLOGY
Japanese family with an autosomal dominant chromosome instability syndrome: A new neurodegenerative disease?
AMERICAN JOURNAL OF MEDICAL GENETICS
The FHA domain in DNA repair and checkpoint signaling
COLD SPRING HARBOR SYMPOSIA ON QUANTITATIVE BIOLOGY
Multiple signaling pathways involving ATM
COLD SPRING HARBOR SYMPOSIA ON QUANTITATIVE BIOLOGY
Genetic disorders associated with cancer predisposition and genomic instability
PROGRESS IN NUCLEIC ACID RESEARCH AND MOLECULAR BIOLOGY, VOL 63
p53 and human cancer: The first ten thousand mutations
ADVANCES IN CANCER RESEARCH, VOL 77
Cranial MRI in the Nijmegen breakage syndrome
NEURORADIOLOGY
ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway
NATURE
DNA diagnostics in oncology
MOLECULAR BIOLOGY
NBS1 and TRF1 colocalize at promyelocytic leukemia bodies during late S/G(2) phases in immortalized telomerase-negative cells - Implication of NBS1 in alternative lengthening of telomeres
JOURNAL OF BIOLOGICAL CHEMISTRY
A novel human Rad54 homologue, Rad54B, associates with Rad51
JOURNAL OF BIOLOGICAL CHEMISTRY
Utilization of oriented peptide libraries to identify substrate motifs selected by ATM
JOURNAL OF BIOLOGICAL CHEMISTRY
The Saccharomyces cerevisiae RAD6 group is composed of an error-prone and two error-free postreplication repair pathways
GENETICS
Increased frequency of RAG-expressing, CD4(+)CD3(low) peripheral T lymphocytes in patients with defective responses to DNA damage
EUROPEAN JOURNAL OF IMMUNOLOGY
Immunodeficiency associated with DNA repair defects
CLINICAL AND EXPERIMENTAL IMMUNOLOGY
No evidence for a major role of heterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non-Hodgkin's lymphoma of childhood and adolescence
BRITISH JOURNAL OF HAEMATOLOGY
The BRCT regions of tumor suppressor BRCA1 and of XRCC1 show DNA end binding activity with a multimerizing feature
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
Autozygosity mapping of a Seckel syndrome locus to chromosome 3q22.1-q24
AMERICAN JOURNAL OF HUMAN GENETICS
Radiation, DNA damage and cancer
MOLECULAR MEDICINE TODAY
Gross chromosomal rearrangements in Saccharomyces cerevisiae replication and recombination defective mutants
NATURE GENETICS
Loss of heterozygosity at the ATM locus in colorectal carcinoma
ONCOLOGY REPORTS
Cellular responses to radiation and risk of breast cancer
EUROPEAN JOURNAL OF CANCER
Review: ATM: the protein encoded by the gene mutated in the radiosensitivesyndrome ataxia-telangiectasia
INTERNATIONAL JOURNAL OF RADIATION BIOLOGY
Increased chromosomal radiosensitivity in breast cancer patients: a comparison of two assays
INTERNATIONAL JOURNAL OF RADIATION BIOLOGY
Genetic effects on immunity - New genes - how do they fit? Editorial overview
CURRENT OPINION IN IMMUNOLOGY
Regulation of p53 in response to DNA damage
ONCOGENE
Conserved BRCT regions of TopBP1 and of the tumor suppressor BRCA1 bind strand breaks and termini of DNA
ONCOGENE
Mutations of a novel human RAD54 homologue, RAD54B, in primary cancer
ONCOGENE
Mutations in the RAD54 recombination gene in primary cancers
ONCOGENE
The ATM protein is required for sustained activation of NF-kappa B following DNA damage
ONCOGENE
Immortalization and characterization of Nijmegen Breakage Syndrome fibroblasts
MUTATION RESEARCH-DNA REPAIR
Nbs1 potentiates ATP-driven DNA unwinding and endonuclease cleavage by theMre11/Rad50 complex
GENES & DEVELOPMENT
ATM functions and ataxia-telangectasia phenotypes
M S-MEDECINE SCIENCES
Aging and chromosomal instability
REVIEWS OF PHYSIOLOGY BIOCHEMISTRY AND PHARMACOLOGY, VOL 139
Mammalian X-ray-sensitive mutants which are defective in non-homologous (illegitimate) DNA double-strand break repair
BIOCHIMIE
Defending genome integrity during DNA replication: a proposed role for RecQ family helicases
BIOESSAYS
Mre11 is essential for the maintenance of chromosomal DNA in vertebrate cells
EMBO JOURNAL
Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays
PRENATAL DIAGNOSIS
Ovarian differentiation and gonadal failure
AMERICAN JOURNAL OF MEDICAL GENETICS
Therapy for non-Hodgkin lymphoma in children with primary immunodeficiency: Analysis of 19 patients from the BFM trials
MEDICAL AND PEDIATRIC ONCOLOGY
Substrate specificities and identification of putative substrates of ATM kinase family members
JOURNAL OF BIOLOGICAL CHEMISTRY
Expression of full-length NBS1 protein restores normal radiation responsesin cells from nijmegen breakage syndrome patients
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
The mammalian Mre11-Rad50-Mbs1 protein complex: Integration of functions in the cellular DNA-damage response
AMERICAN JOURNAL OF HUMAN GENETICS
ATM GERMLINE MUTATIONS IN CLASSICAL ATAXIA-TELANGIECTASIA PATIENTS INTHE DUTCH POPULATION
Human mutation
CDNA cloning and Gene Mapping of Human Homologs for Schizosaccharomyces pombe rad17, rad1, and hus1 and cloning of homologs from mouse, Caenorhabditis elegans, and Drosophila melanogaster
GENOMICS
Primary immunodeficiency with microcephalia: clinical presentation, immunological and hematological disorders in various syndromes.
GEMATOLOGIYA I TRANSFUZIOLOGIYA
RADIATION-INDUCED MICRONUCLEUS INDUCTION IN LYMPHOCYTES IDENTIFIES A HIGH-FREQUENCY OF RADIOSENSITIVE CASES AMONG BREAST-CANCER PATIENTS - A TEST FOR PREDISPOSITION
British Journal of Cancer
RADIATION INDUCTION OF P53 IN CELLS FROM NIJMEGEN BREAKAGE SYNDROME IS DEFECTIVE BUT NOT SIMILAR TO ATAXIA-TELANGIECTASIA
Biochemical and biophysical research communications
DIVERSITY OF ATM GENE-MUTATIONS DETECTED IN PATIENTS WITH ATAXIA-TELANGIECTASIA
Human mutation
GENOMIC INSTABILITY ASSOCIATED WITH LIMB DEFECTS - CASE-REPORT AND REVIEW OF THE LITERATURE
Clinical dysmorphology