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Article

A novel mutation in the TAP2 gene in bare lymphocyte syndrome: association with metastatic cutaneous squamous cell carcinoma.

Archives of dermatology - 1 Jan 2010

España Agustín, González-Santesteban Cecilia, Martínez-Martínez Laura, Bauzá Ana, de la Calle-Martín Oscar

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Share to ATP Binding Cassette Transporter, Subfamily B, Member 3
Share to ATP-Binding Cassette Transporters
Share to Biopsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carcinoma, Squamous Cell

Share to Diagnosis, Differential

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Source

Identifiers

PMID: 20083708
DOI: 10.1001/archdermatol.2009.354

Genes

TAP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in the TAP2 gene in bare lymphocyte syndrome: association with metastatic cutaneous squamous cell carcinoma.PMID 20083708Read ↗

Novel human pathological mutations. Gene symbol: TAP2. Disease: HLA class I deficiency.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: TAP2. Disease: HLA class I deficiency.Semantic proximity Read ↗

Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome.Semantic proximity Read ↗

Novel human TAP2*103 allele shows further polymorphism in the ATP-binding domain.Semantic proximity Read ↗

Association of HLA class I antigen deficiency related to a TAP2 gene mutation with familial bronchiectasisSemantic proximity Read ↗

Transporter Associated with Antigen ProcessingProteins (TAP-1 and TAP-2) Gene Expressionof MHC-I Downregulated in Oral SquamousCarcinomaSemantic proximity Read ↗

A novel mutation in TAP1 gene leading to MHC class I deficiency: Report of two cases and review of the literatureSemantic proximity Read ↗

A functionally defective allele of TAP1 results in loss of MHC class I antigen presentation in a human lung cancer.Semantic proximity Read ↗

Chronic necrotizing granulomatous skin lesions and MHC class I deficiency syndrome due to TAP2 deficiencySemantic proximity Read ↗

Immune escape of melanoma: first evidence of structural alterations in two distinct components of the MHC class I antigen processing pathway.Semantic proximity Read ↗

Polymorphisms involving the transmembrane domains of human TAP2.Semantic proximity Read ↗

Allelic variations in the TAP2 and LMP2 genes in Behçet's disease.Semantic proximity Read ↗

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