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

Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.

Human molecular genetics - 1 Oct 1995

McAllister K A, Baldwin M A, Thukkani A K, Gallione C J, Berg J N, Porteous M E, Guttmacher A E, Marchuk D A

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Antigens, CD
Share to Chromosomes, Human, Pair 9
Share to Endoglin
Share to Frameshift Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Receptors, Cell Surface

Share to Restriction Mapping

Share to Telangiectasia, Hereditary Hemorrhagic

Share to Vascular Cell Adhesion Molecule-1

Source

Identifiers

PMID: 8595426
DOI: 10.1093/hmg/4.10.1983

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.PMID 8595426Read ↗

Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.Semantic proximity Read ↗

Endoglin ER-retained mutants exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type alleleSemantic proximity Read ↗

Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele.Semantic proximity Read ↗

A novel endoglin mutation in hereditary hemorrhagic telangiectasia type 1: a case report.Semantic proximity Read ↗

Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanismsSemantic proximity Read ↗

[Genetic analysis of a family with hereditary hemorrhagic telangiectasia caused by endoglin gene mutation].Semantic proximity Read ↗

No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia.Semantic proximity Read ↗

Genetic abnormalities in hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

Unveiling Endoglin non canonical regulation: spotlight on the new role of the uPAR pathwaySemantic proximity Read ↗

Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.Semantic proximity Read ↗

Endoglin involvement in integrin-mediated cell adhesion as a putative pathogenic mechanism in hereditary hemorrhagic telangiectasia type 1 (HHT1)Semantic proximity Read ↗

Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis.Semantic proximity Read ↗

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