Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
18
pubmed:dateCreated
2007-5-7
pubmed:abstractText
Idiopathic pulmonary fibrosis (IPF) is an adult-onset, lethal, scarring lung disease of unknown etiology. Some individuals with IPF have a familial disorder that segregates as a dominant trait with incomplete penetrance. Here we used linkage to map the disease gene in two families to chromosome 5. Sequencing a candidate gene within the interval, TERT, revealed a missense mutation and a frameshift mutation that cosegregated with pulmonary disease in the two families. TERT encodes telomerase reverse transcriptase, which together with the RNA component of telomerase (TERC), is required to maintain telomere integrity. Sequencing the probands of 44 additional unrelated families and 44 sporadic cases of interstitial lung disease revealed five other mutations in TERT. A heterozygous mutation in TERC also was found in one family. Heterozygous carriers of all of the mutations in TERT or TERC had shorter telomeres than age-matched family members without the mutations. Thus, mutations in TERT or TERC that result in telomere shortening over time confer a dramatic increase in susceptibility to adult-onset IPF.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-10089885, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-10612815, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-10639533, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-11054058, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-11207353, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-11519507, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-11574891, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-11595186, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-11731797, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-11790668, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-11991887, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-12114022, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-14630445, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-14630939, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-15098033, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-15128450, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-15814878, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-15886322, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-16109978, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-16247010, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-16306520, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-16507852, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-16809633, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-2342578, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-2392154, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-8934879, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-9039238, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-9252327, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-9345087, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-9398860, http://linkedlifedata.com/resource/pubmed/commentcorrection/17460043-9563754
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0027-8424
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
104
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
7552-7
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Adult-onset pulmonary fibrosis caused by mutations in telomerase.
pubmed:affiliation
McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, Non-P.H.S., Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural