Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.
about
The evolution of extracellular fibrillins and their functional domainsCutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)Efficient association of an amino-terminally extended form of human latent transforming growth factor-beta binding protein with the extracellular matrixFurther 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 matricesLatent transforming growth factor-beta complex in Chinese hamster ovary cells contains the multifunctional cysteine-rich fibroblast growth factor receptor, also termed E-selectin-ligand or MG-160Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.The gene for an inherited form of deafness maps to chromosome 5q31Association of the small latent transforming growth factor-beta with an eight cysteine repeat of its binding protein LTBP-1Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5qStructure and expression of fibulin-2, a novel extracellular matrix protein with multiple EGF-like repeats and consensus motifs for calcium bindingUnderstanding Marfan's syndromeFibrillin: from microfibril assembly to biomechanical functionThe molecular genetics of Marfan syndrome and related microfibrillopathiesCorneal stroma microfibrilsGenetics of valvular heart diseaseStructure of the Fibrillin-1 N-Terminal Domains Suggests that Heparan Sulfate Regulates the Early Stages of Microfibril AssemblySkeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature reviewMAGP-2 has multiple binding regions on fibrillins and has covalent periodic association with fibrillin-containing microfibrilsDiagnostic 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 phenotypeFibrillin-1 and fibulin-2 interact and are colocalized in some tissuesDevelopmental 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 developmentA trans-acting protein effect causes severe eye malformation in the Mp mouseThe extracellular matrix protein MAGP-2 interacts with Jagged1 and induces its shedding from the cell surfaceGeneration of heterozygous fibrillin-1 mutant cloned pigs from genome-edited foetal fibroblastsEmilin, a component of elastic fibers preferentially located at the elastin-microfibrils interfaceCell adhesion and integrin binding to recombinant human fibrillin-1Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humansTwo non-contiguous regions contribute to nidogen binding to a single EGF-like motif of the laminin gamma 1 chainFibrillin delineates the primary axis of the early avian embryo.Microfibril-associated glycoprotein-2 interacts with fibrillin-1 and fibrillin-2 suggesting a role for MAGP-2 in elastic fiber assembly.Chronic angle closure glaucoma secondary to frail zonular fibres and spherophakia.Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel.Color flow and conventional echocardiography of the Marfan syndrome.A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.Marfan syndrome in a large family: response of family members to a screening programme.Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndromeTwo cases of 5q deletions in patients with familial adenomatous polyposis: possible link with Caroli's disease.
P2860
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P2860
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.
description
1991 nî lūn-bûn
@nan
1991 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Linkage of Marfan syndrome and ...... two different fibrillin genes.
@ast
Linkage of Marfan syndrome and ...... two different fibrillin genes.
@en
Linkage of Marfan syndrome and ...... two different fibrillin genes.
@nl
type
label
Linkage of Marfan syndrome and ...... two different fibrillin genes.
@ast
Linkage of Marfan syndrome and ...... two different fibrillin genes.
@en
Linkage of Marfan syndrome and ...... two different fibrillin genes.
@nl
prefLabel
Linkage of Marfan syndrome and ...... two different fibrillin genes.
@ast
Linkage of Marfan syndrome and ...... two different fibrillin genes.
@en
Linkage of Marfan syndrome and ...... two different fibrillin genes.
@nl
P2093
P356
P1433
P1476
Linkage of Marfan syndrome and ...... two different fibrillin genes.
@en
P2093
D W Hollister
M G Mattei
M Sarfarazi
P Tsipouras
P2888
P304
P356
10.1038/352330A0
P407
P577
1991-07-01T00:00:00Z
P6179
1010952090