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Ehlers-Danlos syndrome.

BMJ 335(7617):448-50 (2007) PMID 17762038 PMCID 1962838

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  1. Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding.

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    We used this system for the two known EDS mutations (Gly-to-Val) in the middle at G910 and at the C-terminus at G1018. In addition, wild-type and Gly-to-Ala mutants were made. The mutations significantly slow down the overall rate of triple helix formation. The effect of the Gly-to-Val mutation is m...
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    Our objective was to determine the susceptibility of Col3a1(+/-) mice to develop arterial ruptures under high blood pressure (BP) conditions induced by a 4-week infusion of angiotensin II (AngII). AngII (1 μg/kg per minute) significantly and comparably increased systolic BP in Col3a1(+/-) and Col3a...
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    We report a patient with Ehlers-Danlos syndrome and mitral valve endocarditis. The case was complicated due to the initial septic status of the patient and the fragility of the mitral valve both of which required further early operative intervention. The patient also had pre-existing pulmonary septi...