Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa
about
Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxaDifferential regulation of elastic fiber formation by fibulin-4 and -5Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skinCutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolismLarge-scale candidate gene analysis of HDL particle featuresExpression of versican isoform V3 in the absence of ascorbate improves elastogenesis in engineered vascular constructs.MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sitesUnraveling the mechanism of elastic fiber assembly: The roles of short fibulinsComprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxaFibulin-4 and fibulin-5 in elastogenesis and beyond: Insights from mouse and human studies.Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.Fibulin-5 is up-regulated by hypoxia in endothelial cells through a hypoxia-inducible factor-1 (HIF-1α)-dependent mechanism.Imbalanced expression of Vcan mRNA splice form proteins alters heart morphology and cellular protein profiles.Mechanical factors direct mouse aortic remodelling during early maturation.Physiological ER Stress Mediates the Differentiation of FibroblastsAlternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa.New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.Elastin in large artery stiffness and hypertension.Extracellular matrix and the mechanics of large artery development.Translational attenuation differentially alters the fate of disease-associated fibulin proteinsFibrillins, fibulins, and matrix-associated glycoprotein modulate the kinetics and morphology of in vitro self-assembly of a recombinant elastin-like polypeptide.Latent TGF-β binding protein 4 promotes elastic fiber assembly by interacting with fibulin-5.Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.Mechanisms of emphysema in autosomal dominant cutis laxa.Dual functions for LTBP in lung development: LTBP-4 independently modulates elastogenesis and TGF-beta activity.RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndromeFibulin-5 contributes to microfibril assembly in human periodontal ligament cells.Fibulin-5, an integrin-binding matricellular protein: its function in development and disease.Metabolic cutis laxa syndromes.The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa.Expression of fibulin-5 in the skin of patients with rectal prolapse.Function of latent TGFβ binding protein 4 and fibulin 5 in elastogenesis and lung development.Fibulin-5 binds human smooth-muscle cells through alpha5beta1 and alpha4beta1 integrins, but does not support receptor activation.Dysregulation of fibulin-5 and matrix metalloproteases in epithelial ovarian cancer.Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation.
P2860
Q22001523-3A8DA415-A045-4EAA-B3A3-7AF187F1FE6BQ24309636-49BD3E12-40A7-4292-B681-6DDBEE6B770DQ24595903-292A2FC3-6813-48E4-B0E9-E4ED270CFF92Q28655384-6BE8A82F-2416-4AD0-9A18-44A77A23F656Q28743354-359A09F5-E570-49F6-BDB9-16340EFD22FEQ33617665-C5688371-17A3-438E-A5A2-18EB8E0E7AFFQ33815785-B4317E62-63EF-409E-AFAE-23BCD7CF72FCQ33891925-80461760-B163-42F2-ABF3-07EE8A702EDFQ33929448-2DB6EF01-C034-4410-96DB-62B414EE2CDFQ34145642-4C77F775-F4EA-44DC-9B9F-044833643671Q34603262-19B304BE-79B9-4470-B4F1-3E54A8A3E325Q34606161-0A9A39A8-7362-481B-84A2-D40361E61AF6Q35106726-C12D6635-8943-430E-9FAE-E2B4453AD5F6Q35134395-F81596AD-F1F2-408F-BD91-7C17DA56682BQ35619411-766B69E3-93E4-444E-B9D0-D162619EB4D0Q36052482-2DCFD4CB-EA68-4411-9ED7-B7F2ACE79E8BQ36059909-C7DA2F65-EC28-4650-BC9E-8B5597A0E9B0Q36059927-D1E86CF3-C992-4F13-8E67-10F847D389F2Q36295848-CE87799C-A24A-4FE4-A562-103205FDBADCQ36329793-83089F9A-70DF-4F61-92F6-5843746F6964Q36523602-1A36E572-1349-4BDD-83B5-D35D5544DF19Q36637402-177DB09B-0198-4AB2-8EB7-CBEC7182F5FBQ36688645-A0AA034F-19EF-4B20-B397-AFE48E47EF54Q36711025-0DDCC286-2BEF-4DDF-849E-163A24C3B18FQ37284876-1C6AD18B-7119-4216-A614-6B0BAA704515Q37301164-CF10C7DC-C006-4B2E-A4E6-6B43F4E96979Q37416137-7344D855-E1C2-4294-AD95-B498059A767BQ37424201-FAAEC645-69E2-47E7-AB8D-408152B1A030Q37856837-DCAF8810-A560-4500-98FB-10FD8CACE37BQ39297198-56C15E23-B94D-4EE3-9A22-FF63B0CA512AQ40273808-70FB403C-4AAE-4C1C-9E1B-DC5EE7A2B872Q40820009-0AF2FF76-DFC8-417B-982B-B0815DB37CCFQ43075851-45A9393E-F498-439C-A3DC-DA83F2BCFB4EQ52629185-51CCFD0F-666B-4AF2-BF29-0926D0C94EFBQ53061903-16CBA521-106C-43D6-BC0F-DCD6FCA18238
P2860
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa
description
2006 nî lūn-bûn
@nan
2006 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Fibulin-5 mutations: mechanism ...... mation in recessive cutis laxa
@ast
Fibulin-5 mutations: mechanism ...... mation in recessive cutis laxa
@en
Fibulin-5 mutations: mechanism ...... mation in recessive cutis laxa
@en-gb
Fibulin-5 mutations: mechanism ...... mation in recessive cutis laxa
@nl
type
label
Fibulin-5 mutations: mechanism ...... mation in recessive cutis laxa
@ast
Fibulin-5 mutations: mechanism ...... mation in recessive cutis laxa
@en
Fibulin-5 mutations: mechanism ...... mation in recessive cutis laxa
@en-gb
Fibulin-5 mutations: mechanism ...... mation in recessive cutis laxa
@nl
prefLabel
Fibulin-5 mutations: mechanism ...... mation in recessive cutis laxa
@ast
Fibulin-5 mutations: mechanism ...... mation in recessive cutis laxa
@en
Fibulin-5 mutations: mechanism ...... mation in recessive cutis laxa
@en-gb
Fibulin-5 mutations: mechanism ...... mation in recessive cutis laxa
@nl
P2093
P50
P356
P1476
Fibulin-5 mutations: mechanism ...... mation in recessive cutis laxa
@en
P2093
Elaine C Davis
Jiwon Choi
Paul J Coucke
Robert P Mecham
P304
P356
10.1093/HMG/DDL414
P407
P577
2006-12-01T00:00:00Z