Associated Papers
Arterial Tortuosity Syndrome: A Longitudinal Assessment of Cardiovascular Features and Interventions From the Collaborative for Longitudinal Aortic Research in the Young (CLARITY).
Salamat B et al.
American Journal of Medical Genetics. Part A, 2025
Arterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review.
Al-Blushi S et al.
Cureus, 2022
Arterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report.
Cotti Piccinelli S et al.
Bmc Neurology, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.
Gamberucci A et al.
International Journal of Molecular Sciences, 2017
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport.
Németh CE et al.
Febs Letters, 2016
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.
Zoppi N et al.
Human Molecular Genetics, 2015
Arterial tortuosity syndrome in two Italian paediatric patients.
Ritelli M et al.
Orphanet Journal of Rare Diseases, 2009
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
Callewaert BL et al.
Human Mutation, 2008
Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome.
Drera B et al.
American Journal of Medical Genetics. Part A, 2007
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
Coucke PJ et al.
Nature Genetics, 2006
Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.
Hardin JS et al.
Ophthalmic Genetics, 0
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