Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype.
about
Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndromeIn vivo studies of mutant fibrillin-1 microfibrilsBacterial lipopolysaccharide induces expression of the stress response genes hop and H411.Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic ampliconsSkeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cellsQualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international studyPotential therapy paradigms for Marfan syndrome.Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutationGlanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.Molecular pathogenesis and management strategies of ectopia lentis.Mild aerobic exercise blocks elastin fiber fragmentation and aortic dilatation in a mouse model of Marfan syndrome associated aortic aneurysm.Determination of the molecular basis of Marfan syndrome: a growth industry.Molecular mechanisms of inherited thoracic aortic disease - from gene variant to surgical aneurysm.Codependence of Bone Morphogenetic Protein Receptor 2 and Transforming Growth Factor-β in Elastic Fiber Assembly and Its Perturbation in Pulmonary Arterial Hypertension.A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15.
P2860
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P2860
Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype.
description
1995 nî lūn-bûn
@nan
1995 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Expression of a mutant human f ...... s a Marfan cellular phenotype.
@ast
Expression of a mutant human f ...... s a Marfan cellular phenotype.
@en
Expression of a mutant human f ...... s a Marfan cellular phenotype.
@nl
type
label
Expression of a mutant human f ...... s a Marfan cellular phenotype.
@ast
Expression of a mutant human f ...... s a Marfan cellular phenotype.
@en
Expression of a mutant human f ...... s a Marfan cellular phenotype.
@nl
prefLabel
Expression of a mutant human f ...... s a Marfan cellular phenotype.
@ast
Expression of a mutant human f ...... s a Marfan cellular phenotype.
@en
Expression of a mutant human f ...... s a Marfan cellular phenotype.
@nl
P2093
P2860
P356
P1476
Expression of a mutant human f ...... s a Marfan cellular phenotype.
@en
P2093
P2860
P304
P356
10.1172/JCI117737
P407
P577
1995-02-01T00:00:00Z