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

Engineered telomere degradation models dyskeratosis congenita.

Genes & development - 1 Jul 2008

Hockemeyer Dirk, Palm Wilhelm, Wang Richard C, Couto Suzana S, de Lange Titia

Abstract excerpt

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized by cutaneous symptoms, including hyperpigmentation and nail dystrophy. Some forms of DC are caused by mutations in telomerase, the enzyme that counteracts telomere shortening, suggesting a telomere-based disease mechanism. However, mice with extensively shortened telomeres due to telomerase deficiency do not develop the...

Read the complete abstract on PubMed

Topics

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

Share to Bone Marrow
Share to Disease Models, Animal
Share to DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dyskeratosis Congenita

Share to Longevity

Share to Skin Pigmentation

Share to Telomerase

Share to Telomere

Source

Open in PubMed Open full text

Identifiers

PMID: 18550783
DOI: 10.1101/gad.1679208
PMCID: PMC2492664

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

Engineered telomere degradation models dyskeratosis congenita.PMID 18550783Read ↗

Pot1b deletion and telomerase haploinsufficiency in mice initiate an ATR-dependent DNA damage response and elicit phenotypes resembling dyskeratosis congenita.Semantic proximity Read ↗

Dyskeratosis congenita -- a disease of dysfunctional telomere maintenance.Semantic proximity Read ↗

A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice.Semantic proximity Read ↗

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

Recent progress in dyskeratosis congenita.Semantic proximity Read ↗

Dyskeratosis congenita and telomere biology disordersSemantic proximity Read ↗

Updates on the biology and management of dyskeratosis congenita and related telomere biology disordersSemantic proximity Read ↗

Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.Semantic proximity Read ↗

Dyskeratosis CongenitaSemantic proximity Read ↗

Dyskeratosis congenita.Semantic proximity Read ↗

The diagnosis and treatment of dyskeratosis congenita: a reviewSemantic proximity Read ↗

The biology and management of dyskeratosis congenita and related disorders of telomeres.Semantic proximity Read ↗

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