Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
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SMAD3 deficiency promotes inflammatory aortic aneurysms in angiotensin II-infused mice via activation of iNOSTGF-β and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and diseaseA Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection.Aortic Aneurysm: Etiopathogenesis and Clinicopathologic CorrelationsMicroRNAs in congenital heart diseaseMitral valve disease--morphology and mechanisms.Advances in understanding cartilage remodelingMicromanaging abdominal aortic aneurysmsMedical treatment of aortic aneurysms in Marfan syndrome and other heritable conditionsEpidemiology and pathophysiology of mitral valve prolapse: new insights into disease progression, genetics, and molecular basisEducational 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 dissectionsEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseSpontaneous Aortic Regurgitation and Valvular Cardiomyopathy in Mice.Fibrillins in TendonTransforming growth factor Beta2 is required for valve remodeling during heart developmentTGFB1 genetic polymorphisms and coronary heart disease risk: a meta-analysisLoss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humansIncomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.Critical roles of miRNA-mediated regulation of TGFβ signalling during mouse cardiogenesis.Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening conditionSMAD3 is associated with the total burden of radiographic osteoarthritis: the Chingford study.Identification and analysis of a SMAD3 cis-acting eQTL operating in primary osteoarthritis and in the aneurysms and osteoarthritis syndrome.TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysmConditional removal of the canonical TGF-β1 signaling delays condylar cartilage degeneration induced by a partial discectomy in miceAneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysmsTargeting TGFβ signaling in subchondral bone and articular cartilage homeostasisA 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.The endothelium: paracrine mediator of aortic dissectionExome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.Mutations in protein-binding hot-spots on the hub protein Smad3 differentially affect its protein interactions and Smad3-regulated gene expressionOverexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection.Loeys-Dietz syndrome: a primer for diagnosis and management.The genetic basis of aortic aneurysmTGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.Cardiovascular surgery in Marfan syndrome: implications of new molecular concepts in thoracic aortic disease.A gain of function mutation in TNFRSF11B encoding osteoprotegerin causes osteoarthritis with chondrocalcinosis.
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P2860
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
description
im Februar 2011 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в лютому 2011
@uk
name
Mutations in SMAD3 cause a syn ...... ith early-onset osteoarthritis
@en
Mutations in SMAD3 cause a syn ...... ith early-onset osteoarthritis
@nl
type
label
Mutations in SMAD3 cause a syn ...... ith early-onset osteoarthritis
@en
Mutations in SMAD3 cause a syn ...... ith early-onset osteoarthritis
@nl
prefLabel
Mutations in SMAD3 cause a syn ...... ith early-onset osteoarthritis
@en
Mutations in SMAD3 cause a syn ...... ith early-onset osteoarthritis
@nl
P2093
P50
P356
P1433
P1476
Mutations in SMAD3 cause a syn ...... ith early-onset osteoarthritis
@en
P2093
Aida M Bertoli-Avella
Ben A Oostra
Bianca M de Graaf
Danielle Majoor-Krakauer
Dimitra Micha
Edwin H G Oei
Gert Vriend
Ingrid M B H van de Laar
Ingrid M E Frohn-Mulder
Janneke Timmermans
P2888
P356
10.1038/NG.744
P407
P577
2011-02-01T00:00:00Z
P5875
P6179
1000965096