about
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulinFibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxaNew RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the DanishLosartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndromeThe molecular genetics of Marfan syndrome and related disordersGenetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractilityIntra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with AnemiaHomozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxaA syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T geneHomozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotypeAneurysm syndromes caused by mutations in the TGF-beta receptorHeterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver SyndromeEhlers-Danlos syndromes and Marfan syndromePseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entityAngiotensin II blockade and aortic-root dilation in Marfan's syndromeThe revised Ghent nosology for the Marfan syndromeComprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literatureMutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndromeMutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingSMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.VariantDB: a flexible annotation and filtering portal for next generation sequencing data.A dominant-negative GFI1B mutation in the gray platelet syndrome.Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders.Loeys-Dietz syndrome: a primer for diagnosis and management.Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapyThe impact of simplified boundary conditions and aortic arch inclusion on CFD simulations in the mouse aorta: a comparison with mouse-specific reference data.Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.The diagnostic value of the facial features of Marfan syndrome.Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.Recent progress towards a molecular understanding of Marfan syndrome.Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease.Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.Loeys-Dietz syndrome.The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.Circulating transforming growth factor-beta in Marfan syndrome.Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice.Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model.Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states.
P50
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P50
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