Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q45345290

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Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis SLC2A10 genetic polymorphism predicts development of peripheral arterial disease in patients with type 2 diabetes. SLC2A10 and PAD in type 2 diabetes.Coronary artery abnormalities in Hyper-IgE syndrome Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders.Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome.Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.Clinical utility gene card for: Arterial tortuosity syndrome.The pathobiology of vascular malformations: insights from human and model organism genetics.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.Connective tissue disorders and cardiovascular complications: the indomitable role of transforming growth factor-beta signaling Effects of Geometric Variations on the Buckling of Arteries GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling Twisted blood vessels: symptoms, etiology and biomechanical mechanisms 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 Tortuosity triggers platelet activation and thrombus formation in microvessels Mechanical buckling of arterioles in collateral development.Genetic dissection of marfan syndrome and related connective tissue disorders: an update 2012.Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection.Cerebral infarction caused by a tortuous subclavian artery: a case report.Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.Hereditary connective tissue diseases in young adult stroke: a comprehensive synthesis.Arterial tortuosity syndrome in two Italian paediatric patients.Defective SLC2A10 causes arterial tortuosity syndrome (ATS)Mutations in the SLC2A10 gene cause arterial abnormalities in mice.Autism risk classification using placental chorionic surface vascular network features.Arterial tortuosity syndrome: 40 new families and literature review.A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family.Genetic diagnostics of inherited aortic diseases : Medical strategy analysis.Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport.Defective SLC2A10 does not transport Glc from extracellular region to cytosol Cervical artery tortuosity is associated with intracranial aneurysm.Association between the rotation and three-dimensional tortuosity of the proximal ascending aorta.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 Clinical variability in two Macedonian families with Arterial tortuosity syndrome

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P2860

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

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Arterial tortuosity syndrome: ...... n 12 newly identified families

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Albrecht B

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Barrow M

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Booth C

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Coucke PJ

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De Backer J

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De Paepe AM

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Dekens R

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Devriendt K

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Francannet C

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P2860

Diffuse tortuosity and lengthening of the arteries.

Rapid detection of VHL exon deletions using real-time quantitative PCR.

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150-158

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scholarly article

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10.1002/HUMU.20623

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1

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29

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Bert Callewaert

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5910571

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17935213

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