Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.
about
Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxaFibulin 5 forms a compact dimer in physiological solutions.Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndromeFibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skinAutosomal recessive cutis laxa syndrome revisitedRecurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaFibulin-5 interacts with fibrillin-1 molecules and microfibrilsClinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.Altered vascular remodeling in fibulin-5-deficient mice reveals a role of fibulin-5 in smooth muscle cell proliferation and migration.Unraveling the mechanism of elastic fiber assembly: The roles of short fibulinsComprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxaAltered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.Cutis laxa in hereditary gelsolin amyloidosis.Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin.Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.Fibulin-5 function during tumorigenesis.Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.Fibulin-5 initiates epithelial-mesenchymal transition (EMT) and enhances EMT induced by TGF-beta in mammary epithelial cells via a MMP-dependent mechanism.Failure of pelvic organ support in mice deficient in fibulin-3.Differential expression of fibulin family proteins in the para-cervical weak zone and other areas of human fetal membranes.Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndromeFibulin-4 conducts proper elastogenesis via interaction with cross-linking enzyme lysyl oxidaseFibulin-5, an integrin-binding matricellular protein: its function in development and disease.Genome-wide association analysis for chronic venous disease identifies EFEMP1 and KCNH8 as susceptibility loci.Risk factors and biomarkers of age-related macular degeneration.Stage-specific roles of fibulin-5 during oxidative stress-induced renal carcinogenesis in rats.Molecular analysis of fibulin-5 function during de novo synthesis of elastic fibersTargeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice.A comparative analysis of the fibulin protein family. Biochemical characterization, binding interactions, and tissue localization.Fibulin-5 distribution in human eyes: relevance to age-related macular degeneration.Fibulin-5 binds human smooth-muscle cells through alpha5beta1 and alpha4beta1 integrins, but does not support receptor activation.Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.Defective protein glycosylation in patients with cutis laxa syndrome.Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation.A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.Extracellular Interactions between Fibulins and Transforming Growth Factor (TGF)-β in Physiological and Pathological Conditions
P2860
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P2860
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.
description
2003 nî lūn-bûn
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2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի փետրվարին հրատարակված գիտական հոդված
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2003年の論文
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2003年学术文章
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2003年学术文章
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2003年学术文章
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2003年学术文章
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2003年学术文章
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2003年學術文章
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name
Genetic heterogeneity of cutis ...... hin the fibulin-5 (FBLN5) gene
@nl
Genetic heterogeneity of cutis ...... in the fibulin-5 (FBLN5) gene.
@ast
Genetic heterogeneity of cutis ...... in the fibulin-5 (FBLN5) gene.
@en
Genetic heterogeneity of cutis ...... in the fibulin-5 (FBLN5) gene.
@en-gb
type
label
Genetic heterogeneity of cutis ...... hin the fibulin-5 (FBLN5) gene
@nl
Genetic heterogeneity of cutis ...... in the fibulin-5 (FBLN5) gene.
@ast
Genetic heterogeneity of cutis ...... in the fibulin-5 (FBLN5) gene.
@en
Genetic heterogeneity of cutis ...... in the fibulin-5 (FBLN5) gene.
@en-gb
prefLabel
Genetic heterogeneity of cutis ...... hin the fibulin-5 (FBLN5) gene
@nl
Genetic heterogeneity of cutis ...... in the fibulin-5 (FBLN5) gene.
@ast
Genetic heterogeneity of cutis ...... in the fibulin-5 (FBLN5) gene.
@en
Genetic heterogeneity of cutis ...... in the fibulin-5 (FBLN5) gene.
@en-gb
P2093
P2860
P356
P1476
Genetic heterogeneity of cutis ...... in the fibulin-5 (FBLN5) gene.
@en
P2093
Dessislava Markova
Franziska Ringpfeil
Günter Kostka
Mon-Li Chu
Rupert Timpl
Takako Sasaki
P2860
P304
P356
10.1086/373940
P407
P50
P577
2003-02-28T00:00:00Z