Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome.

Journal of pediatric hematology/oncology - 1 Jul 2006

Field Joshua J, Mason Philip J, An Ping, Kasai Yumi, McLellan Michael, Jaeger Sara, Barnes Yvonne J, King Allison A, Bessler Monica, Wilson David B

Abstract excerpt

Mutations in TERC, the RNA component of telomerase, result in autosomal dominant dyskeratosis congenita (DC), a rare bone marrow failure syndrome. TERC mutations have been detected in a subset of patients previously diagnosed with aplastic anemia and myelodysplastic syndrome (MDS), and these TERC mutations are clinically relevant as patients with DC respond poorly to conventional therapies. We aimed to determine...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anemia, Aplastic
Share to Dyskeratosis Congenita

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hematopoietic Stem Cell Transplantation

Share to Leukemia, Myelomonocytic, Chronic

Share to Myelodysplastic Syndromes

Share to Telomerase

Share to Transplantation, Homologous

Source

Identifiers

PMID: 16825992
DOI: 10.1097/01.mph.0000212952.58597.84

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome.PMID 16825992Read ↗

Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome.Semantic proximity Read ↗

Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia.Semantic proximity Read ↗

Mutations of telomerase complex genes linked to bone marrow failures.Semantic proximity Read ↗

Challenges in the interpretation of a germline TERT variant in a patient with juvenile myelomonocytic leukemia.Semantic proximity Read ↗

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.Semantic proximity Read ↗

Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita.Semantic proximity Read ↗

Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.Semantic proximity Read ↗

Functional characterization of natural telomerase mutations found in patients with hematologic disorders.Semantic proximity Read ↗

Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.Semantic proximity Read ↗

Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency.Semantic proximity Read ↗

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.Semantic proximity Read ↗

Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemiaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.