TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
about
MEKK3 initiates transforming growth factor beta 2-dependent epithelial-to-mesenchymal transition during endocardial cushion morphogenesisMarfan syndrome: An eyesight of syndromeAbsence of TGFBR2 mutations in patients with spontaneous spinal CSF leaks and intracranial hypotensionLRP1 regulates architecture of the vascular wall by controlling PDGFRbeta-dependent phosphatidylinositol 3-kinase activationEconomic and care considerations of Marfan syndrome.Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis.High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders.New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndromeRecurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutationMitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse.Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders.Association of the TGF-beta receptor genes with abdominal aortic aneurysm.Aortic aneurysms: an immune disease with a strong genetic componentPrevalence of dural ectasia in Loeys-Dietz syndrome: comparison with Marfan syndrome and normal controls.Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model.Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study.A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.Modulation of noncanonical TGF-β signaling prevents cleft palate in Tgfbr2 mutant mice.TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndromeA novel mutation in fibrillin-1 gene identified in a Chinese family with marfan syndrome.The mechanism of TGF-β signaling during palate development.MVP-Associated Filamin A Mutations Affect FlnA-PTPN12 (PTP-PEST) Interactions.TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transductionAortic disease in the young: genetic aneurysm syndromes, connective tissue disorders, and familial aortic aneurysms and dissectionsCommon variants in TGFBR2 and miR-518 genes are associated with hypertension in the Chinese populationSusceptibility to glaucoma: differential comparison of the astrocyte transcriptome from glaucomatous African American and Caucasian American donorsTransforming growth factor-beta signaling in thoracic aortic aneurysm development: a paradox in pathogenesisSequencing of TGF-beta pathway genes in familial cases of intracranial aneurysmThe importance of genetic testing in the clinical management of patients with Marfan syndrome and related disorders.Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.Filamin-a-related myxomatous mitral valve dystrophy: genetic, echocardiographic and functional aspects.Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.Association between a TGFBR2 gene polymorphism (rs2228048, Asn389Asn) and acute rejection in Korean kidney transplantation recipients.Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.[Aneurysms of the ascending aorta and aortic arch].Signaling Receptors for TGF-β Family Members.Fibrillin-1 regulates the bioavailability of TGFbeta1.Locally applied leptin induces regional aortic wall degeneration preceding aneurysm formation in apolipoprotein E-deficient mice.
P2860
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P2860
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
TGFBR1 and TGFBR2 mutations in ...... rome and Loeys-Dietz syndrome.
@en
TGFBR1 and TGFBR2 mutations in ...... rome and Loeys-Dietz syndrome.
@nl
type
label
TGFBR1 and TGFBR2 mutations in ...... rome and Loeys-Dietz syndrome.
@en
TGFBR1 and TGFBR2 mutations in ...... rome and Loeys-Dietz syndrome.
@nl
prefLabel
TGFBR1 and TGFBR2 mutations in ...... rome and Loeys-Dietz syndrome.
@en
TGFBR1 and TGFBR2 mutations in ...... rome and Loeys-Dietz syndrome.
@nl
P2093
P356
P1433
P1476
TGFBR1 and TGFBR2 mutations in ...... rome and Loeys-Dietz syndrome.
@en
P2093
Anjali Mishra
Jörg Schmidtke
Kathrin Rommel
Krishna Kumar Singh
Matthias Karck
Mine Arslan-Kirchner
P304
P356
10.1002/HUMU.20354
P577
2006-08-01T00:00:00Z