Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.

By H. Yamaguchi, R. Calado, H. Ly, S. Kajigaya, G. Baerlocher, Stephen J. Chanock, Peter M. Lansdorp, N. Young. New England Journal of Medicine, 2005

738 citations recorded by the source corpus.

Subfields: Hematology, Molecular Biology, Physiology

View Paper: https://www.semanticscholar.org/paper/a601e4c817aad20b391153808690479ea0261e6d

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Citations in the corpus

Telomeres and telomerase: the path from maize, Tetrahymena and yeast to human cancer and aging (2006, background): “Remarkably, mutations in both the RNA and the protein components of telomerase result in progressive telomere shortening over many generations in humans, which limits tissue renewal capacit”
A census of human RNA-binding proteins (2014, background): “telRNAbinding developmental / cardiovascular/ pulmonary disease TERT coronary artery disease, dyskeratosis congenita, aplastic anemia missense mutation, frameshift (Armanios et al., 2007; Marrone et al., 2007; Tsakiri et al., 2007; Yamaguchi et al., 2005)”
Telomeres and aging. (2008, methodology): “Dyskeratosis can present in a variety of inheritance patterns that include X-linked, autosomal dominant, and autosomal recessive, implying other genetic causes for this disease as well as a possible link with other bone marrow failure syndromes such as constitutional aplastic anemia (AA), paroxysmal”
Stems cells and the pathways to aging and cancer. (2008, background): “…pancytopenia and bone marrow failure in patients suffering from aplastic anemia or dyskeratosis congenita with mutations in the catalytic component (Yamaguchi et al., 2005) or the RNA component (Fogarty et al., 2003; Vulliamy et al., 2002) of telomerase suggests clear hematopoietic stem and…”
Telomeres and human disease: ageing, cancer and beyond (2005, background): “In addition, several patients that were diagnosed with aplastic anaemia also carry mutations in the telomerase Terc and Tert genes, resulting in accelerated telomere shortening and premature deat”
Short telomeres are a risk factor for idiopathic pulmonary fibrosis (2008, background): “All three variants had been previously noted in series of healthy controls (18) with the His412Tyr heterozygous allele identified in 1 of 22 healthy controls of European descent (dbSNP rs 34094729).”
Ribosomopathies: human disorders of ribosome dysfunction. (2010, background): “[53] Also of note, mutations in the TERT gene have been identified in some patients with aplastic anemia and short telomeres.[54] Further confusing the picture is a hypomorphic Dkc1 mutant mouse which demonstrated impaired ribosomal RNA pseudouridylation before the onset of clinical features of DKC ”
Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes (2012, background): “…a mutation (E366K) in the SERPINA1 gene previously known in the subject, (2) a damaging mutation in TERT, associated with acquired aplastic anemia (Yamaguchi et al., 2005), and (3) variants associated with hypertriglyceridemia and diabetes, such as GCKR Cell 148, 1293–1307, March 16, 2012 ª2012…”
Telomere length, stem cells and aging. (2007, background): “A number of people diagnosed with aplastic anemia also show mutations in the telomerase TERC and TERT genes, thus resulting in accelerated telomere shortening and premature deat”