Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
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Ehlers-Danlos syndrome type IVVitamins C and E: beneficial effects from a mechanistic perspectiveFunctional properties and genomics of glucose transportersEducational paper. Connective tissue disorders with vascular involvement: from gene to therapyGlucose depletion in the airway surface liquid is essential for sterility of the airwaysRecurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaUnderstanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginineCutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolismCharacterization 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 elastogenesisLoss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humansGlucose transporters in the 21st CenturyStroke Risk Factors, Genetics, and Prevention.ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.Peripheral arterial disease in diabetes: is there a role for genetics?Vascular smooth muscle cells in cerebral aneurysm pathogenesis.SLC2A10 genetic polymorphism predicts development of peripheral arterial disease in patients with type 2 diabetes. SLC2A10 and PAD in type 2 diabetes.Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysmsCanadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan's syndromeThe SLC2 (GLUT) family of membrane transporters.Artery buckling analysis using a four-fiber wall model.Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders.Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.The genetic basis of aortic aneurysmLong-term in vitro treatment of human glioblastoma cells with temozolomide increases resistance in vivo through up-regulation of GLUT transporter and aldo-keto reductase enzyme AKR1C expression.Genetic basis of congenital cardiovascular malformationsMitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome.Fibulin-4 and fibulin-5 in elastogenesis and beyond: Insights from mouse and human studies.Arterial Tortuosity Syndrome: An Approach through Imaging Perspective[Modern aortic surgery in Marfan syndrome--2011].Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.Expressed repeat elements improve RT-qPCR normalization across a wide range of zebrafish gene expression studiesClinical utility gene card for: Arterial tortuosity syndrome.A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspectiveEpigenetic control of vascular smooth muscle cells in Marfan and non-Marfan thoracic aortic aneurysms.Arterial tortuosity in genetic arteriopathies.Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.The pathobiology of vascular malformations: insights from human and model organism genetics.Causes and histopathology of ascending aortic disease in children and young adults.Vitamin C transporters.The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
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P2860
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
description
2006 nî lūn-bûn
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2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2006 թվականի ապրիլին հրատարակված գիտական հոդված
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年學術文章
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name
Mutations in the facilitative ...... e arterial tortuosity syndrome
@ast
Mutations in the facilitative ...... e arterial tortuosity syndrome
@en
Mutations in the facilitative ...... e arterial tortuosity syndrome
@nl
type
label
Mutations in the facilitative ...... e arterial tortuosity syndrome
@ast
Mutations in the facilitative ...... e arterial tortuosity syndrome
@en
Mutations in the facilitative ...... e arterial tortuosity syndrome
@nl
prefLabel
Mutations in the facilitative ...... e arterial tortuosity syndrome
@ast
Mutations in the facilitative ...... e arterial tortuosity syndrome
@en
Mutations in the facilitative ...... e arterial tortuosity syndrome
@nl
P2093
P2860
P50
P921
P3181
P356
P1433
P1476
Mutations in the facilitative ...... e arterial tortuosity syndrome
@en
P2093
Andy Willaert
Grazia M S Mancini
Harry C Dietz
Joyce E Fox
Julie De Backer
Marios Kambouris
Marja W Wessels
Nicoletta Zoppi
Patrick J Willems
Paul J Coucke
P2860
P2888
P3181
P356
10.1038/NG1764
P407
P577
2006-04-01T00:00:00Z
P5875
P6179
1010725867