The molecular genetics of Marfan syndrome and related microfibrillopathies - sprookjes - yvandenbroek - TriplyDB

The molecular genetics of Marfan syndrome and related microfibrillopathies

The molecular genetics of Marfan syndrome and related microfibrillopathies

http://www.wikidata.org/entity/Q24681593

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Congenital contractural arachnodactyly (Beals syndrome)Degenerative suspensory ligament desmitis as a systemic disorder characterized by proteoglycan accumulation The molecular genetics of Marfan syndrome and related disorders Fibrillin: from microfibril assembly to biomechanical function Multi-exon deletions of the FBN1 gene in Marfan syndrome Bisphosphonate therapy in pediatric patients Identification of a matrix-binding domain in MAGP1 and MAGP2 and intracellular localization of alternative splice forms Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies Ectopia lentis phenotypes and the FBN1 gene Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis.Xenopus fibrillin regulates directed convergence and extension.Cardiovascular magnetic resonance in Marfan syndrome.Recapitulating and Correcting Marfan Syndrome in a Cellular Model.Beals-Hecht syndrome and choroidal neovascularization.Substrate-dependent morphology of supramolecular assemblies: fibrillin and type-VI collagen microfibrils.Vascular wall extracellular matrix proteins and vascular diseases A tissue-engineered human dermal construct utilizing fibroblasts and transforming growth factor β1 to promote elastogenesis.Current insights in diagnosis and management of the cardiovascular complications of Marfan's syndrome.C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family.Muscle fibrillin deficiency in Marfan's syndrome myopathy.Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.Elastin Insufficiency Predisposes Mice to Impaired Glucose Metabolism.Latent TGF-beta binding proteins: extracellular matrix association and roles in TGF-beta activation.Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review.Multigenic Delineation of Lower Jaw Deformity in Triploid Atlantic Salmon (Salmo salar L.).A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family Musculo-skeletal abnormalities in patients with Marfan syndrome.Contribution of the latent transforming growth factor-β binding protein 2 gene to etiology of primary open angle glaucoma and pseudoexfoliation syndrome.Inhibition of versican expression by siRNA facilitates tropoelastin synthesis and elastic fiber formation by human SK-LMS-1 leiomyosarcoma smooth muscle cells in vitro and in vivo.Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1 Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.New fibrillin gene mutation - possible cause of ascending aortic dilation in patients with aortic valve disease: Preliminary results Vesicoureteral reflux and the extracellular matrix connection.TB domain proteins: evolutionary insights into the multifaceted roles of fibrillins and LTBPs.Marfan's syndrome: an overview.Interventional treatment methods in patients with Marfan Syndrome.The genetic basis of facial skeletal characteristics and its relation with orthodontics.

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P2860

The molecular genetics of Marfan syndrome and related microfibrillopathies

http://www.wikidata.org/entity/Q24681593

description

2000 nî lūn-bûn

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2000 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2000 թվականի հունվարին հրատարակված գիտական հոդված

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2000年の論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年论文

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name

The molecular genetics of Marfan syndrome and related microfibrillopathies

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The molecular genetics of Marfan syndrome and related microfibrillopathies

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The molecular genetics of Marfan syndrome and related microfibrillopathies

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type

label

The molecular genetics of Marfan syndrome and related microfibrillopathies

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The molecular genetics of Marfan syndrome and related microfibrillopathies

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The molecular genetics of Marfan syndrome and related microfibrillopathies

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prefLabel

The molecular genetics of Marfan syndrome and related microfibrillopathies

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The molecular genetics of Marfan syndrome and related microfibrillopathies

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The molecular genetics of Marfan syndrome and related microfibrillopathies

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Journal of Medical Genetics

P1476

The molecular genetics of Marfan syndrome and related microfibrillopathies

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P2093

M Godfrey

http://www.w3.org/2001/XMLSchema#string

P N Robinson

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P2860

Characterization of an associated microfibril protein through recombinant DNA techniques

Fibulin binds to itself and to the carboxyl-terminal heparin-binding region of fibronectin

Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils

The association of human fibulin-1 with elastic fibers: an immunohistological, ultrastructural, and RNA study

Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end

Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils

Efficient association of an amino-terminally extended form of human latent transforming growth factor-beta binding protein with the extracellular matrix

Identification and characterization of a new latent transforming growth factor-beta-binding protein, LTBP-4

A novel mutation of the fibrillin gene causing ectopia lentis

Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25)

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9-25

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