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Article

Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site.

Gene - 20 Mar 2018

Plumitallo Sara, Ruiz-Llorente Lidia, Langa Carmen, Morini Jacopo, Babini Gabriele, Cappelletti Donata, Scelsi Laura, Greco Alessandra, Danesino Cesare, Bernabeu Carmelo, Olivieri Carla

Abstract excerpt

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disease, with an autosomal dominant inheritance and a worldwide incidence of about 1: 5000 individuals. In >80% of patients, HHT is caused by mutations in either ENG or ACVRL1, which code for ENDOGLIN and Activin A Receptor Type II-Like Kinase 1 (ALK1), belonging to the TGF-β/BMP signalling pathway. Typical HHT clinical features are mucocutaneous...

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Topics

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Share to Activin Receptors, Type II
Share to Binding Sites

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endoglin

Share to Gene Expression Regulation

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Share to Sp1 Transcription Factor

Share to Telangiectasia, Hereditary Hemorrhagic

Source

Identifiers

PMID: 29305977
DOI: 10.1016/j.gene.2018.01.007

Genes

ENG
ACVRL1
PAH

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.

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Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site.PMID 29305977Read ↗

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