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Interesting Case of Lung Fibrosis in a Patient With Vascular Ehlers Danlos Syndrome. [PDF]
Kwan ASH, Nanda V, Younas T, Bandara H.
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Sequential vascular and neural changes underlying the progression of patellar tendinopathy. [PDF]
Park J +4 more
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Ginsenoside Rg2 attenuates TGF-β1/Smad-mediated fibrotic remodeling in aged male mice with sarcopenia. [PDF]
Liu Y +20 more
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Trem1 exacerbates myocardial infarction-induced heart failure by inactivating the Rap1 pathway. [PDF]
Liu J, Kou Z, Cao P, Chen T, Zhang W.
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Analysis of the COL3A1 Gene in Patients With Spontaneous Cervical Artery Dissections
The etiology of spontaneous cervical artery dissection (sCAD) is unknown. An underlying connective tissue disorder has been suggested. As a collagen disease is conceivable several genes encoding fibrillar collagens have been condsidered as candidate genes for sCAD.
Caspar Grond-Ginsbach +2 more
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COL3A1 Mutations in Spontaneous Coronary Artery Dissection
Heart, Lung and Circulation, 2023Abstract Background Spontaneous coronary artery dissection (SCAD) affects mainly women with a mean age of 51 years.(1) Predicted damaging variants in connective tissue disease (CTD) genes have been found in a subset of patients with SCAD, however in some cases the typical phenotype associated with ...
L Mcgrath-Cadell +8 more
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Homozygosity for a Null Allele of COL3A1 Results in Recessive Ehlers–Danlos Syndrome [PDF]
So far, mutations in the human COL3A1 gene have been associated with the predominantly inherited Ehlers-Danlos syndrome (EDS), vascular type. Genotype-phenotype correlation perspectives collapsed, as haploinsufficiency, which was long suggested to confer a milder or unrecognized phenotype, was reported in four patients with a phenotype similar to that ...
Mireille Claustres +1 more
exaly +4 more sources
A Novel Frameshift COL3A1 Variant in Vascular Ehlers-Danlos Syndrome
Annals of Vascular Surgery, 2019Ehlers-Danlos syndromes (EDSs) are a group of heritable connective tissue disorders with distinct genetic etiologies. Of the 13 currently recognized types of EDS, the vascular type EDS (vEDS) is generally considered the most severe and is associated with a decreased life expectancy due to spontaneous arterial, intestinal, and or uterine rupture ...
Sydney L, Olson +2 more
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