Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. - Wikidata - wikimedia - TriplyDB

Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.

Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.

http://www.wikidata.org/entity/Q34329440

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Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy An α-smooth muscle actin (acta2/αsma) zebrafish transgenic line marking vascular mural cells and visceral smooth muscle cells Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries.Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa Impaired vascular contractility and aortic wall degeneration in fibulin-4 deficient mice: effect of angiotensin II type 1 (AT1) receptor blockade.Elevated transforming growth factor β1 in plasma of primary open-angle glaucoma patients The genetic basis of aortic aneurysm Fibulin-4 and fibulin-5 in elastogenesis and beyond: Insights from mouse and human studies.Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β.Extracellular matrix defects in aneurysmal Fibulin-4 mice predispose to lung emphysema.A genome-wide detection of copy number variations using SNP genotyping arrays in swine.Clinical utility gene card for: Arterial tortuosity syndrome.Arterial tortuosity in genetic arteriopathies.The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling Differences in genetic signaling, and not mechanical properties of the wall, are linked to ascending aortic aneurysms in fibulin-4 knockout mice Transforming growth factor beta signaling in adult cardiovascular diseases and repair.Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities.Loss of fibulin-4 disrupts collagen synthesis and maturation: implications for pathology resulting from EFEMP2 mutations Matrix-dependent perturbation of TGFβ signaling and disease Fibulin-4 deficiency increases TGF-β signalling in aortic smooth muscle cells due to elevated TGF-β2 levels.Genetic dissection of marfan syndrome and related connective tissue disorders: an update 2012.Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.Structure of the Elastin-Contractile Units in the Thoracic Aorta and How Genes That Cause Thoracic Aortic Aneurysms and Dissections Disrupt This Structure Forelimb contractures and abnormal tendon collagen fibrillogenesis in fibulin-4 null mice.Defective Connective Tissue Remodeling in Smad3 Mice Leads to Accelerated Aneurysmal Growth Through Disturbed Downstream TGF-β Signaling Stromal Modulators of TGF-β in Cancer.Genetic biomarkers in aortopathy.Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature.The microfibril hypothesis of glaucoma: implications for treatment of elevated intraocular pressure.Genetics of hereditary large vessel diseases.Aneurysm of the Pulmonary Artery, a Systematic Review and Critical Analysis of Current Literature.Agonists and Antagonists of TGF-β Family Ligands.Pathophysiology of aortic aneurysm: insights from human genetics and mouse models.Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.

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P2860

Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.

http://www.wikidata.org/entity/Q34329440

description

2010 nî lūn-bûn

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2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի ապրիլին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.

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Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.

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Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.

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Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.

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Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.

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Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.

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Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.

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Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.

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Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.

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Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.

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Angela Pickart

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Anita Rauch

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Anne M De Paepe

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Juliane Hoyer

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Lesley C Adès

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Lynn Y Sakai

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Majed Dasouki

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Marjolijn Renard

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Michael G Earing

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P2860

Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)

Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4

Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

Mutations in PYCR1 cause cutis laxa with progeroid features

Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.

Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome

Autosomal recessive cutis laxa syndrome revisited

The structure of a Ca(2+)-binding epidermal growth factor-like domain: its role in protein-protein interactions

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10.1038/EJHG.2010.45

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43134338

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