Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
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Educational paper. Connective tissue disorders with vascular involvement: from gene to therapyAn α-smooth muscle actin (acta2/αsma) zebrafish transgenic line marking vascular mural cells and visceral smooth muscle cellsCutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolismCharacterization 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 elastogenesisFibulin-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 laxaImpaired 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 patientsThe genetic basis of aortic aneurysmFibulin-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 signalingDifferences in genetic signaling, and not mechanical properties of the wall, are linked to ascending aortic aneurysms in fibulin-4 knockout miceTransforming 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 mutationsMatrix-dependent perturbation of TGFβ signaling and diseaseFibulin-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 StructureForelimb 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 SignalingStromal 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.
P2860
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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.
description
2010 nî lūn-bûn
@nan
2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.
@ast
Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.
@en
Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.
@nl
type
label
Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.
@ast
Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.
@en
Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.
@nl
prefLabel
Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.
@ast
Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.
@en
Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.
@nl
P2093
P2860
P50
P356
P1476
Altered TGFbeta signaling and ...... aused by fibulin-4 deficiency.
@en
P2093
Angela Pickart
Anita Rauch
Anne M De Paepe
Harry C Dietz
Juliane Hoyer
Lesley C Adès
Lynn Y Sakai
Majed Dasouki
Marjolijn Renard
Michael G Earing
P2860
P2888
P304
P356
10.1038/EJHG.2010.45
P577
2010-04-14T00:00:00Z