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

Identification and Computational Analysis of a Novel Pathogenic DKC1 Variant Underlying X-Linked Dyskeratosis Congenita.

Biochemical genetics - 1 Jun 2026

Asghar Namra, Sajjad Wardah, Naeem Muhammad

Abstract excerpt

Dyskeratosis congenita (DC) is an inherited progressive bone marrow failure disorder caused by defective telomeres maintenance. It is characterized by a triad of mucocutaneous abnormalities (reticulated skin pigmentation, nail dystrophy, oral leukoplakia) and an increased predisposition to cancer. Genetic mutations in fourteen genes causing abnormalities in telomere biology underlying the DC phenotype have been...

Read the complete abstract on PubMed

Topics

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

Share to Cell Cycle Proteins
Share to Computational Biology
Share to Dyskeratosis Congenita

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Nuclear Proteins

Share to Pakistan

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 40634789
DOI: 10.1007/s10528-025-11187-z

Genes

DKC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification and Computational Analysis of a Novel Pathogenic DKC1 Variant Underlying X-Linked Dyskeratosis Congenita.PMID 40634789Read ↗

A Novel Variant and a Missense Variant Identified in the DKC1 Gene in Three Chinese Familieswith Dyskeratosis CongenitaSemantic proximity Read ↗

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

Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case reportSemantic proximity Read ↗

The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.Semantic proximity Read ↗

Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis.Semantic proximity Read ↗

Dyskeratosis Congenita (DC) Registry: identification of new features of DC.Semantic proximity Read ↗

Identification of a novel mutation in DKC1 in dyskeratosis congenita.Semantic proximity Read ↗

Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita.Semantic proximity Read ↗

Dyskeratosis congenita: a literature review.Semantic proximity Read ↗

Dyskeratosis congenita.Semantic proximity Read ↗

A Novel Missense Mutation of DKC1 In Dyskeratosis Congenita With Pulmonary Fibrosis.Semantic proximity Read ↗

Dyskeratosis CongenitaSemantic proximity Read ↗

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