Xcode Life

Condition: ARTERIAL TORTUOSITY SYNDROME

rs1015798796 in SLC2A10 gene and ARTERIAL TORTUOSITY SYNDROME

PMID 19622975 2009 Successful outcome in pregnancy with arterial tortuosity syndrome.

PMID 17935213 2008 Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

PMID 16550171 2006 Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.

PMID 22237449 2012 Evaluation of the adolescent or adult with some features of Marfan syndrome.

PMID 25173340 2014 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).

PMID 19781076 2009 Arterial tortuosity syndrome in two Italian paediatric patients.

PMID 17163528 2007 Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome.

PMID 23494979 2013 Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations.

PMID 25373504 2014 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.

PMID 26376865 2015 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.

PMID 18774132 2009 A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.

PMID 23410549 2013 Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity.

PMID 18565096 2008 Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families.

PMID 18818946 2009 A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.

PMID 22488877 2012 Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.