Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome - Test2 - elhamkhani - TriplyDB

Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome

Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome

http://www.wikidata.org/entity/Q22065344

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Genetic architecture of body size in mammals ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts.Fibrillin-1 and -2 differentially modulate endogenous TGF-β and BMP bioavailability during bone formation Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome Marfan's syndrome The molecular genetics of Marfan syndrome and related disorders Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function Microenvironmental regulation by fibrillin-1 Marfan syndrome: An eyesight of syndrome Generation of heterozygous fibrillin-1 mutant cloned pigs from genome-edited foetal fibroblasts Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans High-Resolution Morphological Approach to Analyse Elastic Laminae Injuries of the Ascending Aorta in a Murine Model of Marfan Syndrome In vivo studies of mutant fibrillin-1 microfibrils Prestress in the extracellular matrix sensitizes latent TGF-β1 for activation.Elastin fragmentation in atherosclerotic mice leads to intraplaque neovascularization, plaque rupture, myocardial infarction, stroke, and sudden death.Changes in fibrillin-1 in the endometrium during the early stages of pregnancy in mice.An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures.A new mouse model for marfan syndrome presents phenotypic variability associated with the genetic background and overall levels of Fbn1 expression.The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment.Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein.Impaired vascular contractility and aortic wall degeneration in fibulin-4 deficient mice: effect of angiotensin II type 1 (AT1) receptor blockade.Drug-based therapies for vascular disease in Marfan syndrome: from mouse models to human patients.The genetic basis of aortic aneurysm MMP-2 regulates Erk1/2 phosphorylation and aortic dilatation in Marfan syndrome Extracellular microfibrils control osteoblast-supported osteoclastogenesis by restricting TGF{beta} stimulation of RANKL production The haploinsufficient Col3a1 mouse as a model for vascular Ehlers-Danlos syndrome.Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome Multi-scale biomechanical remodeling in aging and genetic mutant murine mitral valve leaflets: insights into Marfan syndrome.Fibrillin assemblies: extracellular determinants of tissue formation and fibrosis Fibrillins 1 and 2 perform partially overlapping functions during aortic development.The clinical spectrum of complete FBN1 allele deletions.Fibrillin-1 genetic deficiency leads to pathological ageing of arteries in mice.mTOR inhibition rescues osteopenia in mice with systemic sclerosis.Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism.Circulating transforming growth factor-beta in Marfan syndrome.Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice.Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states.Preventing the aortic complications of Marfan syndrome: a case-example of translational genomic medicine Dimorphic effects of transforming growth factor-β signaling during aortic aneurysm progression in mice suggest a combinatorial therapy for Marfan syndrome ADAMTSL6β protein rescues fibrillin-1 microfibril disorder in a Marfan syndrome mouse model through the promotion of fibrillin-1 assembly.

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P2860

Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome

http://www.wikidata.org/entity/Q22065344

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2004 nî lūn-bûn

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Evidence for a critical contri ...... athogenesis of Marfan syndrome

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Evidence for a critical contri ...... athogenesis of Marfan syndrome

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Evidence for a critical contri ...... athogenesis of Marfan syndrome

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Evidence for a critical contri ...... athogenesis of Marfan syndrome

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Evidence for a critical contri ...... athogenesis of Marfan syndrome

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Evidence for a critical contri ...... athogenesis of Marfan syndrome

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Daniel P Judge

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Daniel P. Judge

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David L Huso

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David L. Huso

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Douglas R Keene

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Douglas R. Keene

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Harry C Dietz

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Harry C. Dietz

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Jessica Geubtner

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Loretha Myers

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P2860

Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils

Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils

Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1

Detection of specific sequences among DNA fragments separated by gel electrophoresis

Interactions of fibrillin-1 with heparin/heparan sulfate, implications for microfibrillar assembly

Fibrillin degradation by matrix metalloproteinases: identification of amino- and carboxy-terminal cleavage sites

Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome

Nonsense-mediated mRNA decay in health and disease

High-efficiency yeast artificial chromosome fragmentation vectors.

Ascertainment and severity of Marfan syndrome in a Scottish population.

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