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

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.

Nature genetics - 1 Apr 2006

Coucke Paul J, Willaert Andy, Wessels Marja W, Callewaert Bert, Zoppi Nicoletta, De Backer Julie, Fox Joyce E, Mancini Grazia M S, Kambouris Marios, Gardella Rita, Facchetti Fabio, Willems Patrick J, Forsyth Ramses, Dietz Harry C, Barlati Sergio, Colombi Marina, Loeys Bart, De Paepe Anne

Abstract excerpt

Arterial tortuosity syndrome (ATS) is an autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the major arteries owing to disruption of elastic fibers in the medial layer of the arterial wall. Previously, we used homozygosity mapping to map a ca...

Read the complete abstract on PubMed

Topics

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

Share to Arteries
Share to Chromosome Mapping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 20

Share to Glucose Transport Proteins, Facilitative

Share to Neovascularization, Pathologic

Share to Pedigree

Share to Sequence Homology, Amino Acid

Share to Vascular Diseases

Source

Identifiers

PMID: 16550171
DOI: 10.1038/ng1764

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16550171-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.PMID 16550171Read ↗

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.Semantic proximity Read ↗

SLC2A10 genetic polymorphism predicts development of peripheral arterial disease in patients with type 2 diabetes. SLC2A10 and PAD in type 2 diabetes.Semantic proximity Read ↗

Mutations in the SLC2A10 gene cause arterial abnormalities in mice.Semantic proximity Read ↗

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.Semantic proximity Read ↗

Arterial tortuosity syndrome in two Italian paediatric patients.Semantic proximity Read ↗

Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection.Semantic proximity Read ↗

A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.Semantic proximity Read ↗

Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome.Semantic proximity Read ↗

Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.Semantic proximity Read ↗

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling.Semantic proximity Read ↗

Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio.Semantic proximity Read ↗

Arterial Tortuosity Syndrome: Keys to Early Diagnosis and Report of a New MutationSemantic proximity Read ↗

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