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Article

Double Jeopardy: The Rubber Ball Bounces Twice.

The Journal of investigative dermatology - 1 Jan 2017

Arbiser Jack L, Gilbert Linda C

Abstract excerpt

Soblet et al. describe cis mutations in TEK/Tie-2 in blue rubber bleb nevus and sporadic vascular malformations. This suggests that the remaining normal allele is required for the phenotype. Second, it suggests therapeutic approaches to treatment signal transduction inhibition.

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28010758
DOI: 10.1016/j.jid.2016.08.011

Genes

TEK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 9 closest

Double Jeopardy: The Rubber Ball Bounces Twice.PMID 28010758Read ↗

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.Semantic proximity Read ↗

Genetic mutation and blue rubber bleb nevus syndrome: case reports and literature reviewSemantic proximity Read ↗

Bockenheimer disease is associated with a TEK variant.Semantic proximity Read ↗

Sirolimus alternative to blood transfusion as a life saver in blue rubber bleb nevus syndrome: A case report.Semantic proximity Read ↗

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.Semantic proximity Read ↗

A high-sensitivity TIE2-GRB2 BRET platform for functional and pharmacologic profiling of pathogenic variants associated with venous malformations.Semantic proximity Read ↗

Multifocal Sporadic Venous Malformations in a Child Caused by a Novel Somatic Double Mutation of the TEK Gene: A Case Report and Literature Review.Semantic proximity Read ↗

Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.Semantic proximity Read ↗

Mutant vascular actin is a TAAD misbehaving.Semantic proximity Read ↗

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