Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
about
LRP1 functions as an atheroprotective integrator of TGFbeta and PDFG signals in the vascular wall: implications for Marfan syndromeGenetic architecture of body size in mammalsPeriodontal conditions in patients with Marfan syndrome - a multicenter case control studyCutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndromeFurther characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25)Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matricesThe self-association and fibronectin-binding sites of fibulin-1 map to calcium-binding epidermal growth factor-like domainsVariation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helixLosartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndromeMarfan's syndromeA mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass traitMutations in NYX of individuals with high myopia, but without night blindnessThe molecular genetics of Marfan syndrome and related disordersSevere aortic and arterial aneurysms associated with a TGFBR2 mutationStructure and expression of fibulin-2, a novel extracellular matrix protein with multiple EGF-like repeats and consensus motifs for calcium bindingUnderstanding Marfan's syndromeThe molecular genetics of Marfan syndrome and related microfibrillopathiesHuman induced pluripotent stem cells for monogenic disease modelling and therapyMitral valve disease--morphology and mechanisms.Epidemiology 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 therapyPerspectives on the revised Ghent criteria for the diagnosis of Marfan syndromeMatrix control of transforming growth factor-β functionGenetics of valvular heart diseaseTenascin-C in development and disease of blood vesselsMyofibroblasts: trust your heart and let fate decide.Vascular proteomics in metabolic and cardiovascular diseasesRepurposing of approved cardiovascular drugsSkeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature reviewDiagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue DiseaseTen novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotypeAssociation of the ADAM33 gene with asthma and bronchial hyperresponsivenessMutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathiesRare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosisAngiotensin II blockade and aortic-root dilation in Marfan's syndromeComprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literatureDevelopmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrilsDevelopmental expression of latent transforming growth factor beta binding protein 2 and its requirement early in mouse developmentThe pathologic effect of a novel neomorphic Fgf9(Y162C) allele is restricted to decreased vision and retarded lens growth
P2860
Q21144449-418C0C60-D490-4D23-8A83-D7176703F38AQ21184003-600FB299-BD27-48B8-B966-539B72FEAF53Q21254709-87ACCB52-5E40-440F-91AE-5E8D7416BC2DQ22008606-1D320E12-6D68-4916-8F64-297FAF0EBEB4Q22065344-3CBFCA12-AC20-440B-B33C-3FBE41CCD6B9Q24316167-6AE2B7AE-3145-4E27-9692-25A125324C66Q24336069-4AD6568E-7A97-4BC3-9B42-DAAFC6BD888DQ24336713-F7EF36E8-B1DD-4599-BEAE-2C641B72A20DQ24534459-C238248B-B7DC-4AEB-B5DC-25FEDF0E523AQ24548457-35813015-0AF9-4657-B90A-68B1F249AC13Q24553344-9603E25E-7BF5-4DF3-BF25-9DC96590234AQ24561917-44FF9D65-3CD9-4415-A198-29801256476EQ24653288-FD1E94A5-4663-4CC3-B09C-0641413E974DQ24656172-04FAD620-343B-4894-84A4-DDAB43428034Q24657923-842E0761-382E-484E-AF4E-6F1DCBB599ECQ24673741-3E695CBC-5217-4163-87E9-B56F3DA6B4B3Q24675040-37DAA2D6-E2EA-430C-B9F1-1709D04E1599Q24681593-11448F24-361D-4948-96C1-16CE38F693E3Q26750393-4E52D3D3-10E6-46FB-9121-FC8F99856D2AQ26781699-AFB80F3F-DBB7-4A86-9519-ED587C0E5098Q26828458-6ED3DCDE-D7A3-4229-BF4B-3949C4F67579Q26853455-496F66F8-39DF-48B2-BF44-F68C5656CD82Q26864278-40056958-9488-41F4-91BC-75D0E550D05BQ27002535-A9CBCA43-4771-4700-B0F4-2188CFED9F0DQ27014805-74B317D6-23F3-4708-A855-A324029F62A1Q27027610-4A100225-7441-48F0-A8C0-C597E52E2B41Q27692541-C9706658-4BA7-4B0A-AF99-518708F7A56CQ28070315-47FB7CF2-77AA-4308-B49D-B8CF250EDB30Q28074453-13154684-1E38-40F9-94F3-7A8E30E3CA55Q28077286-E567AE22-7872-4C27-83F7-D3312D1555CBQ28118637-3D5ACAFA-3B72-415B-A25A-C2C26489A839Q28213329-FBC88938-D1E0-4712-B3B0-12DE16840545Q28214089-6D67E5AE-2697-410B-8379-409C7849462BQ28219544-BD3351CF-48FC-48A8-B945-D65B90AA1B85Q28240167-7E05EB80-001D-4050-897B-4D7854792F1AQ28285199-6444840C-B4FF-41DB-A7F6-5C472B4B8CB6Q28300718-C22D7838-0188-4D2D-8C86-75FD42DE4341Q28504747-CB86F2B1-743A-475A-91C1-D3C10B9701BFQ28508686-578B05F8-6E20-401A-8650-2BBD52382043Q28587752-514512CC-9DDA-419D-9ABF-7D04E0F0C21A
P2860
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
description
article publié dans la revue scientifique Nature
@fr
scientific article published in Nature
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в Nature в липні 1991
@uk
name
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
@en
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
@nl
type
label
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
@en
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
@nl
prefLabel
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
@en
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
@nl
P2093
P356
P1433
P1476
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
@en
P2093
C L Maslen
E G Puffenberger
E J Nanthakumar
G M Corson
G R Cutting
R E Pyeritz
S M Curristin
P2888
P356
10.1038/352337A0
P407
P577
1991-07-25T00:00:00Z
P6179
1021939278