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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
Journal Article
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
Journal Article