Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.
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The evolution of extracellular fibrillins and their functional domainsGenetic architecture of body size in mammalsHeparin/heparan sulfate controls fibrillin-1, -2 and -3 self-interactions in microfibril assemblyEgfl7, a novel epidermal growth factor-domain gene expressed in endothelial cellsThe molecular genetics of Marfan syndrome and related disordersThe fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactylyA variant of Freeman-Sheldon syndrome maps to 11p15.5-pterThe molecular genetics of Marfan syndrome and related microfibrillopathiesGenetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and functionFibrillins in TendonDiagnostic 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 phenotypeRare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosisFibrillin-1 and fibulin-2 interact and are colocalized in some tissuesA revised and extended classification of the distal arthrogryposesComprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literatureA trans-acting protein effect causes severe eye malformation in the Mp mouseGene expression programs of human smooth muscle cells: tissue-specific differentiation and prognostic significance in breast cancers.ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2.Genetic craniofacial aberrations.Bone matrix to growth factors: location, location, locationMarfan syndrome: new clues to genotype-phenotype correlations.Disruption of the aortic elastic lamina and medial calcification share genetic determinants in mice.Congenital and idiopathic scoliosis: clinical and genetic aspects.Unraveling the mechanism of elastic fiber assembly: The roles of short fibulinsMicrofibril-associated glycoprotein-1, an extracellular matrix regulator of bone remodeling.Toward an understanding of the cause of mitral valve prolapseRare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.Arachnodactyly--a key to diagnosing heritable disorders of connective tissue.Elastogenesis at the onset of human cardiac valve development.A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.Diagnosing Friedreich's ataxia.Muscle fibrillin deficiency in Marfan's syndrome myopathy.Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.Complex contributions of fibronectin to initiation and maturation of microfibrilsIdentification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome SequencingMatrix-dependent perturbation of TGFβ signaling and diseaseMarfan syndrome: what internists and pediatric or adult cardiologists need to know.
P2860
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P2860
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.
description
1995 nî lūn-bûn
@nan
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
1995年论文
@zh
1995年论文
@zh-cn
name
Fibrillin-2 (FBN2) mutations r ...... l contractural arachnodactyly.
@en
type
label
Fibrillin-2 (FBN2) mutations r ...... l contractural arachnodactyly.
@en
prefLabel
Fibrillin-2 (FBN2) mutations r ...... l contractural arachnodactyly.
@en
P2093
P2860
P356
P1433
P1476
Fibrillin-2 (FBN2) mutations r ...... l contractural arachnodactyly.
@en
P2093
P2860
P2888
P304
P356
10.1038/NG1295-456
P407
P577
1995-12-01T00:00:00Z
P5875
P6179
1028931199