Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
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Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.Small leucine rich proteoglycans, a novel link to osteoclastogenesis.Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.Left main coronary artery compression by a dilated main pulmonary artery and left coronary sinus of Valsalva aneurysm in a patient with heritable pulmonary arterial hypertension and FLNA mutation.Biglycan and Decorin Expression and Distribution in Palatal Adhesion.Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.Non-Glycanated Biglycan and LTBP4: Leveraging the extracellular matrix for Duchenne Muscular Dystrophy therapeutics.
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Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 15 September 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Loss-of-function mutations in ...... tic aneurysms and dissections.
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Loss-of-function mutations in ...... tic aneurysms and dissections.
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type
label
Loss-of-function mutations in ...... tic aneurysms and dissections.
@en
Loss-of-function mutations in ...... tic aneurysms and dissections.
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Loss-of-function mutations in ...... tic aneurysms and dissections.
@en
Loss-of-function mutations in ...... tic aneurysms and dissections.
@nl
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Loss-of-function mutations in ...... tic aneurysms and dissections.
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P2093
Andrea Superti-Furga
Edwin Reyniers
Geert Vandeweyer
Isabel Pintelon
Josephina A N Meester
Julie Richer
Julie Vogt
Kathryn Waitzman
Luciana Young
Rami Dhillon
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P2888
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10.1038/GIM.2016.126
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2016-09-15T00:00:00Z
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1029508166