Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8-9
pubmed:dateCreated
2004-7-28
pubmed:abstractText
Nijmegen breakage syndrome is a rare autosomal recessive genetic disease belonging to a group of disorders often called chromosome instability syndromes. In addition to a characteristic facial appearance and microcephaly, patients suffering from Nijmegen breakage syndrome have a range of symptoms including radiosensitivity, immunodeficiency, increased cancer risk and growth retardation. The underlying gene, NBS1, is located on human chromosome 8q21 and codes for a protein product termed nibrin, Nbs1 or p95. Over 90% of patients are homozygous for a founder mutation: a deletion of five base pairs which leads to a framehift and protein truncation. The protein nibrin/Nbs1 is suspected to be involved in the cellular response to DNA damage caused by ionising irradiation, thus accounting for the radiosensitivity of Nijmegen breakage syndrome. We review here some of the more recent findings on the NBS1 gene and discuss how they impinge on the clinical manifestation of the disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1568-7864
pubmed:author
pubmed:issnType
Print
pubmed:volume
3
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1207-17
pubmed:dateRevised
2007-5-10
pubmed:meshHeading
pubmed-meshheading:15279809-Cell Cycle Proteins, pubmed-meshheading:15279809-Chromosomes, Human, Pair 8, pubmed-meshheading:15279809-DNA Damage, pubmed-meshheading:15279809-Facies, pubmed-meshheading:15279809-Frameshift Mutation, pubmed-meshheading:15279809-Genetic Predisposition to Disease, pubmed-meshheading:15279809-Growth Disorders, pubmed-meshheading:15279809-Homozygote, pubmed-meshheading:15279809-Humans, pubmed-meshheading:15279809-Immunologic Deficiency Syndromes, pubmed-meshheading:15279809-Lymphoma, pubmed-meshheading:15279809-Meiosis, pubmed-meshheading:15279809-Microcephaly, pubmed-meshheading:15279809-Mutation, pubmed-meshheading:15279809-Nuclear Proteins, pubmed-meshheading:15279809-Radiation, Ionizing, pubmed-meshheading:15279809-Radiation Tolerance, pubmed-meshheading:15279809-Risk, pubmed-meshheading:15279809-Syndrome
pubmed:articleTitle
Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks.
pubmed:affiliation
Institute of Human Genetics, Charité-University Medicine Berlin, Augustenburger platz 1, Berlin 13353, Germany. martin.digweed@charite.de
pubmed:publicationType
Journal Article, Review