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Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 13 - 13
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies... 
MEDICINE, RESEARCH & EXPERIMENTAL | DNA-DAMAGE RESPONSE | Nijmegen breakage syndrome | Immunodeficiency | CHROMOSOMAL INSTABILITY DISORDER | SYNDROME GENE NBS1 | DOUBLE-STRAND BREAKS | Predisposition to malignancy | X-RAY HYPERSENSITIVITY | Chromosomal instability | PRIMARY-IMMUNODEFICIENCY | Microcephaly | Hypergonadotropic hypogonadism | B-CELL LYMPHOMA | GENETICS & HEREDITY | NON-HODGKIN-LYMPHOMA | CLASS-SWITCH RECOMBINATION | ATAXIA-TELANGIECTASIA | Hypogonadism - pathology | Nijmegen Breakage Syndrome - pathology | Microcephaly - genetics | Nijmegen Breakage Syndrome - physiopathology | Humans | Child, Preschool | Genes, Recessive | Nijmegen Breakage Syndrome - complications | Nijmegen Breakage Syndrome - genetics | Hypogonadism - genetics | Young Adult | Chromosomal Instability - genetics | Neoplasms - genetics | Immunologic Deficiency Syndromes - physiopathology | Microcephaly - pathology | Adolescent | Cell Cycle Proteins - genetics | Immunologic Deficiency Syndromes - genetics | Adult | Female | Neoplasms - pathology | Nuclear Proteins - genetics | Gene mutations | Genetic aspects | Transplantation | Diagnosis | Research | Health aspects | Risk factors | Hematopoietic stem cells | Respiratory distress syndrome | Colleges & universities | Ataxia | Lymphomas | Mutation | Chromosomes | Deoxyribonucleic acid--DNA | Children & youth
Journal Article
Nucleic acids research, ISSN 1362-4962, 2013, Volume 41, Issue 16, pp. 7589 - 7605
Although the DNA double-strand break (DSB) is defined as a rupture in the double-stranded DNA molecule that can occur without chemical modification in any of... 
CHROMOSOMAL TRANSLOCATIONS | DAMAGE RESPONSE | IONIZING-RADIATION FORMATION | BACKUP PATHWAYS | BIOCHEMISTRY & MOLECULAR BIOLOGY | LIGASE-III | SINGLE-STRAND | HOMOLOGOUS RECOMBINATION | STRUCTURE-DEPENDENT REPAIR | HEAT-LABILE SITES | MAMMALIAN-CELLS | Models, Molecular | DNA Breaks, Double-Stranded | DNA Repair | Survey and Summary
Journal Article
Journal Article
Nucleic acids research, ISSN 1362-4962, 2017, Volume 45, Issue 22, pp. 12625 - 12637
Most proteins involved in the DNA double-strand break response (DSBR) accumulate at the damage sites, where they perform functions related to damage signaling, chromatin remodeling and repair... 
E3 LIGASE | HISTONE DEMETHYLASE | RECRUITMENT | DAMAGE RESPONSE | END JOINING NHEJ | BIOCHEMISTRY & MOLECULAR BIOLOGY | ALTERNATIVE PATHWAYS | LIGASE-III | SINGLE-STRAND | POLY-ADP-RIBOSE | NUCLEOTIDE EXCISION-REPAIR | DNA - genetics | DNA-Binding Proteins - metabolism | Animals | Signal Transduction | DNA Repair | Humans | Homologous Recombination | DNA - metabolism | Kinetics | DNA Breaks, Double-Stranded | Survey and Summary
Journal Article
PloS one, ISSN 1932-6203, 2014, Volume 9, Issue 12, p. e114651
Nibrin (also named NBN or NBS1) is a component of the MRE11/RAD50/NBN complex, which is involved in early steps of DNA double strand breaks sensing and repair... 
DEFECTIVE RESPONSE | OXIDATIVE STRESS | REPAIR PROTEIN | DNA-DAMAGE RESPONSE | MULTIDISCIPLINARY SCIENCES | DEPENDENT PROTEIN-KINASE | NIJMEGEN-BREAKAGE-SYNDROME | ATM ACTIVATION | DISTINCT FUNCTIONAL DOMAINS | ATAXIA-TELANGIECTASIA | DOUBLE-STRAND-BREAK | Nijmegen Breakage Syndrome - pathology | Sequence Deletion | Electrophoresis, Polyacrylamide Gel | Humans | Nijmegen Breakage Syndrome - metabolism | Cell Cycle Proteins - metabolism | Nuclear Proteins - metabolism | Gene Regulatory Networks | Mutation - genetics | DNA Breaks, Double-Stranded | Nijmegen Breakage Syndrome - genetics | Blotting, Western | Homozygote | Tandem Mass Spectrometry | Cell Nucleus - genetics | Cell Nucleus - radiation effects | X-Rays | Fluorescent Antibody Technique | HEK293 Cells | Cell Cycle Proteins - genetics | Heterozygote | Protein Interaction Domains and Motifs | Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization | Nuclear Proteins - genetics | Proteins | Ionizing radiation | Genetic aspects | DNA damage | Nijmegen breakage syndrome | Fragments | Science | Amino acids | Breast cancer | DNA repair | Chromatography | Fragmentation | NAD | Poly(ADP-ribose) Polymerase 1 | Affinity chromatography | Protein folding | MRE11 protein | Breakage | Proteomics | Cell cycle | Irradiation | Lymphomas | Mutation | Deoxyribonucleic acid--DNA | Deoxyribonucleic acid | DNA
Journal Article