Associated Papers
Unsupervised learning reveals landscape of local structural motifs across protein classes.
Derry A et al.
Bioinformatics (oxford, England), 2025
Structural and Dynamic Assessment of Disease-Causing Mutations for the Carnitine Transporter OCTN2.
Jokiel J et al.
Molecular Informatics, 2025
Arterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review.
Al-Blushi S et al.
Cureus, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Comprehensive in silico Study of GLUT10: Prediction of Possible Substrate Binding Sites and Interacting Molecules.
Hosen MJ et al.
Current Pharmaceutical Biotechnology, 2020
Insights into Substrate and Inhibitor Selectivity among Human GLUT Transporters through Comparative Modeling and Molecular Docking.
Ferreira RS et al.
Acs Omega, 2019
Arterial tortuosity syndrome: 40 new families and literature review.
Beyens A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.
Mattassi R et al.
Journal of Vascular Surgery, 2018
Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties.
Zimmermann MT et al.
Frontiers in Genetics, 2018
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: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
Ritelli M et al.
Bmc Medical Genetics, 2014
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