Linked Life Data

11259155

Source:http://linkedlifedata.com/resource/pubmed/id/11259155

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2001-3-22
pubmed:abstractText
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome in which patients undergo premature ageing and have a predisposition to malignancy. X-linked and autosomal (dominant and recessive) forms of the disease are recognized. The gene responsible for X-linked DC (DKC1) encodes a highly conserved protein called dyskerin that is believed to be essential in ribosome biogenesis and may also be involved in telomerase RNP assembly. Here we show that in X-linked DC, peripheral blood cells have dramatically reduced telomere lengths but normal levels of telomerase activity. We also find that subjects with autosomal DC have significantly shorter telomeres than age-matched normal controls suggesting that both forms of the disease are associated with rapid telomere shortening in hemopoietic stem cells. The further characterization of these genes will not only lead to a better understanding of the biology of DC but may also provide further insights into the maintenance of telomeres and the biology of aplastic anemia, ageing, and cancer.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1079-9796
pubmed:author
pubmed:copyrightInfo
Copyright 2001 Academic Press.
pubmed:issnType
Print
pubmed:volume
27
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
353-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita.
pubmed:affiliation
Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, 4th Floor Commonwealth Building, Du Cane Road, London, W12 ONN, United Kingdom. t.vulliamy@ic.ac.uk
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't