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

A novel mutation in the <i>XPA</i> gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma

24 Apr 2006

Abstract excerpt

BACKGROUND: Xeroderma pigmentosum (XP) is an autosomal recessive disorder of, in most cases, defective nucleotide excision repair (NER) of ultraviolet radiation (UV)- and chemical-induced DNA damage. The condition is characterized by an increased sensitivity of the skin to UV radiation, with early development of pigmentary changes and premalignant lesions in sun-exposed areas of the skin, signs of photoageing and...

Read the complete abstract on PubMed

Topics

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

Share to Carcinogens and Genotoxicity Assessment
Share to DNA Repair Mechanisms
Share to Genetic factors in colorectal cancer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 16792756
DOI: 10.1111/j.1365-2133.2006.07272.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in the <i>XPA</i> gene associated with unusually mild clinical features in a patient who developed a spindle cell melanomaPMID 16792756Read ↗

A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype.Semantic proximity Read ↗

Spotlight on 'xeroderma pigmentosum'.Semantic proximity Read ↗

A Splicing Variant in XPA Results in Delayed Onset of Clinical Features of Xeroderma Pigmentosum.Semantic proximity Read ↗

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.Semantic proximity Read ↗

Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactionsSemantic proximity Read ↗

Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.Semantic proximity Read ↗

Genotype-phenotype associations in a robust cohort of 69 patients with xeroderma pigmentosum across Türkiye: a multicentre study.Semantic proximity Read ↗

Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.Semantic proximity Read ↗

Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.Semantic proximity Read ↗

Overview of xeroderma pigmentosum proteins architecture, mutations and post-translational modifications.Semantic proximity Read ↗

The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D)Semantic proximity Read ↗

True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.Semantic proximity Read ↗

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