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

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.

Blood - 30 Oct 2014

Guo Yiran, Kartawinata Melissa, Li Jiankang, Pickett Hilda A, Teo Juliana, Kilo Tatjana, Barbaro Pasquale M, Keating Brendan, Chen Yulan, Tian Lifeng, Al-Odaib Ahmad, Reddel Roger R, Christodoulou John, Xu Xun, Hakonarson Hakon, Bryan Tracy M

Abstract excerpt

Telomerase is a ribonucleoprotein enzyme that is necessary for overcoming telomere shortening in human germ and stem cells. Mutations in telomerase or other telomere-maintenance proteins can lead to diseases characterized by depletion of hematopoietic stem cells and bone marrow failure (BMF). Telomerase localization to telomeres requires an interaction with a region on the surface of the telomere-binding protein...

Read the complete abstract on PubMed

Topics

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

Share to Anemia
Share to Bone Marrow

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bone Marrow Diseases

Share to Inheritance Patterns

Share to Serine Proteases

Share to Shelterin Complex

Share to Telomere-Binding Proteins

Share to Telomere Homeostasis

Source

Open in PubMed Open full text

Identifiers

PMID: 25205116
DOI: 10.1182/blood-2014-08-596445
PMCID: PMC4215308

Genes

TPP1
ACD
BMF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.PMID 25205116Read ↗

Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.Semantic proximity Read ↗

Structural and functional consequences of a disease mutation in the telomere protein TPP1.Semantic proximity Read ↗

The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity.Semantic proximity Read ↗

Two Separation-of-Function Isoforms of Human TPP1 Dictate Telomerase Regulation in Somatic and Germ CellsSemantic proximity Read ↗

Multi-step coordination of telomerase recruitment in fission yeast through two coupled telomere-telomerase interfaces.Semantic proximity Read ↗

TPP1 OB-fold domain controls telomere maintenance by recruiting telomerase to chromosome ends.Semantic proximity Read ↗

The N Terminus of the OB Domain of Telomere Protein TPP1 Is Critical for Telomerase ActionSemantic proximity Read ↗

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescueSemantic proximity Read ↗

Differential impact of a dyskeratosis congenita mutation in TPP1 on mouse hematopoiesis and germlineSemantic proximity Read ↗

Two separation-of-function isoforms of human TPP1 and a novel intragenic noncoding RNA dictate telomerase regulation in somatic and germ cellsSemantic proximity Read ↗

A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder.Semantic proximity Read ↗

Identification of human TERT elements necessary for telomerase recruitment to telomeres.Semantic proximity Read ↗

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