A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
about
Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from ScandinaviaLRP1 functions as an atheroprotective integrator of TGFbeta and PDFG signals in the vascular wall: implications for Marfan syndromeEhlers-Danlos syndrome type IVADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulationLosartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndromeMarfan's syndromeTreatment guidelines for thoracic aortic aneurysms and dissections based on the underlying causative geneThe molecular genetics of Marfan syndrome and related disordersSevere aortic and arterial aneurysms associated with a TGFBR2 mutationGrowth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studiesAMD Genetics in India: The Missing LinksAortic Aneurysm: Etiopathogenesis and Clinicopathologic CorrelationsMicroRNAs in congenital heart diseaseMitral valve disease--morphology and mechanisms.Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency.Eosinophilia Associated with Disorders of Immune Deficiency or Immune DysregulationScleroderma pathogenesis: a pivotal role for fibroblasts as effector cellsEducational paper. Connective tissue disorders with vascular involvement: from gene to therapySuccesses and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissectionsGenetics of valvular heart diseaseRegulatory pathways affecting vascular stabilization via VE-cadherin dynamics: insights from zebrafish (Danio rerio)Fibrillins in TendonTooth agenesis and orofacial clefting: genetic brothers in arms?When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in childrenRare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosisActivin subunit and receptor expression in normal and cleft human fetal palate tissuesAbsence of TGFBR2 mutations in patients with spontaneous spinal CSF leaks and intracranial hypotensionMutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndromeIncomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypesMyocardin regulates expression of contractile genes in smooth muscle cells and is required for closure of the ductus arteriosus in miceNo beneficial effect of general and specific anti-inflammatory therapies on aortic dilatation in Marfan miceType III transforming growth factor beta receptor regulates vascular and osteoblast development during palatogenesisCharacterization 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 elastogenesisTGFB1 genetic polymorphisms and coronary heart disease risk: a meta-analysisPaleontological and developmental evidence resolve the homology and dual embryonic origin of a mammalian skull bone, the interparietalChanges in biomechanical strain and morphology of rat calvarial sutures and bone after Tgf-β3 inhibition of posterior interfrontal suture fusionLoss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humansqBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR dataCommon variation in PHACTR1 is associated with susceptibility to cervical artery dissection.Economic and care considerations of Marfan syndrome.
P2860
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P2860
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
description
2005 nî lūn-bûn
@nan
2005 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մարտին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
A syndrome of altered cardiova ...... mutations in TGFBR1 or TGFBR2
@ast
A syndrome of altered cardiova ...... mutations in TGFBR1 or TGFBR2
@en
A syndrome of altered cardiova ...... mutations in TGFBR1 or TGFBR2
@nl
type
label
A syndrome of altered cardiova ...... mutations in TGFBR1 or TGFBR2
@ast
A syndrome of altered cardiova ...... mutations in TGFBR1 or TGFBR2
@en
A syndrome of altered cardiova ...... mutations in TGFBR1 or TGFBR2
@nl
prefLabel
A syndrome of altered cardiova ...... mutations in TGFBR1 or TGFBR2
@ast
A syndrome of altered cardiova ...... mutations in TGFBR1 or TGFBR2
@en
A syndrome of altered cardiova ...... mutations in TGFBR1 or TGFBR2
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
A syndrome of altered cardiova ...... mutations in TGFBR1 or TGFBR2
@en
P2093
Anne M De Paepe
Carmen C Leitch
Catherine L Webb
Daniel B Rifkin
Daniel P Judge
Duke E Cameron
Elaine C Davis
Enid R Neptune
F Lauren Xu
Harry C Dietz
P2860
P2888
P304
P3181
P356
10.1038/NG1511
P407
P577
2005-03-01T00:00:00Z