Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
about
Mutations in PYCR1 cause cutis laxa with progeroid featuresGenetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndromeCell adhesion to tropoelastin is mediated via the C-terminal GRKRK motif and integrin alphaVbeta3Multi-species sequence comparison reveals dynamic evolution of the elastin gene that has involved purifying selection and lineage-specific insertions/deletionsVisualizing tropoelastin in a long-term human elastic fibre cell culture modelFabricated ElastinLOXL as a target to increase the elastin content in adult skin: a dill extract induces the LOXL gene expression.Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.Fibroblast growth factor receptors control epithelial-mesenchymal interactions necessary for alveolar elastogenesis.A novel elastin gene mutation in a Vietnamese patient with cutis laxa.An open reading frame element mediates posttranscriptional regulation of tropoelastin and responsiveness to transforming growth factor beta1.Altered 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.Genes and abdominal aortic aneurysm.Oxidative modifications of the C-terminal domain of tropoelastin prevent cell binding.Alternative 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.Progress in chronic obstructive pulmonary disease geneticsDevelopmental adaptation of the mouse cardiovascular system to elastin haploinsufficiencyTwenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.Mechanisms of emphysema in autosomal dominant cutis laxa.Characterization of an in vitro model of elastic fiber assembly.Modification and functional inactivation of the tropoelastin carboxy-terminal domain in cross-linked elastin.National Emphysema Treatment Trial state of the art: genetics of emphysemaLoss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survivalMutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary diseaseRIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndromeMutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.Elastin signaling in wound repair.Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype.Elastic-fiber pathologies: primary defects in assembly-and secondary disorders in transport and deliveryCongenital cutis laxa.Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene.What do polymorphisms tell us about the mechanisms of COPD?Lactoferrin induces tropoelastin expression by activating the lipoprotein receptor-related protein 1-mediated phosphatidylinositol 3-kinase/Akt pathway in human dermal fibroblasts.Elastin in lung development and disease pathogenesis.Identification of a GA-rich sequence as a protein-binding site in the 3'-untranslated region of chicken elastin mRNA with a potential role in the developmental regulation of elastin mRNA stability.Cutis laxa acquisita: novel insights into impaired elastic fibre regeneration.
P2860
Q24319369-CE12D71E-B7D6-484E-86A6-E18351538FA9Q24532116-A6F0D200-02E8-4D4F-9C6B-FD0BB438E53BQ24546585-C8905AED-30E5-4FB3-91AA-D4CD7FB1F8E7Q24652566-C8097973-CF5C-4050-8E64-E0D6F779314BQ24796852-887DB5DE-9E30-4A5B-BA42-DF3B0383BE7FQ27354400-8808BAE4-4799-46BF-AF38-61CCCD5B06DEQ28087162-C1BE9146-87C8-4709-8391-3156A42D8265Q33250251-DE22A125-D028-48CC-86B9-0595C24DE7DFQ33765177-9DF033A5-8966-4800-9701-C6508122C262Q33788233-56CAED38-C41A-44B6-B7F5-89935BE78328Q33939287-C19B6AEC-5D7F-4E51-BBD1-F22705D28762Q33959906-880F09E9-CAD2-49F2-96D8-3C1DE63B3C3CQ34329440-CBB39D3D-90A6-4080-BA59-E986C4A2AF71Q34396968-6FCFD6FC-1A16-4980-9B76-1836EBC38829Q34683905-53ACFD4D-2564-47A3-889A-6B75D2B0D0E4Q34787390-00802994-E8E3-42D5-BFD2-AEB0409465ABQ36052482-ABF1C07E-3FC4-4DE8-9857-CB45CA8FAE02Q36059909-16D64A02-DBB3-4B4D-924C-0D1797218B16Q36518588-D516A0EE-8F21-49A1-8DE4-5C4F461983E9Q36524613-A2BEEBA9-D664-418E-9D9E-EAB0DD57B077Q36688645-2C0EFF02-5A81-4D79-84AA-A892B80FEB5FQ36711025-10F52746-98A6-41BE-B87A-C7EC2EEEF7C1Q36929450-B6EC30F8-1123-47B5-8B37-B5B1EDAEC048Q36982207-0E3891D6-0608-4AAB-8C78-799117CF5B63Q37103683-6CB9C942-A5C6-4B26-A6E2-6704C7E29940Q37201003-611520AC-D7DD-426E-B794-7EB4DC5B4471Q37253438-572D0772-291B-48F7-A532-565788FBA80BQ37273940-1542F92B-056D-45B7-A7CD-3CE677233CCCQ37301164-D173D79D-AC48-49DE-BB69-F57CDD0F439AQ37417872-3A70A184-5740-413D-9F12-01D8E4A0EE07Q38056456-8650BE1F-07E8-420F-A95A-5B45F15F9968Q39531643-E62D7C62-714C-4ABA-8CBB-E81C0EEBE46EQ39538723-203C731A-3FA7-4995-8EC8-E175CD79FF9EQ42838435-BBFBD25D-BF7E-4AAF-8900-D038301CD35FQ43146810-8ED58BA1-B46E-42BB-84DF-4CD5BD6CB330Q47801457-4981ED61-BD33-4694-9BF6-BD8D26F51993Q47915956-66630722-EF2A-4027-A87A-BD84AF18BDD3Q50055801-26D21467-660A-4F8E-9420-605F63F22807Q52168066-6851653F-23B4-4883-B3D1-E61589957325Q53668485-925FE0CF-DE0C-47E0-A300-EA31AA83C1D7
P2860
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
name
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
@ast
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
@en
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
@en-gb
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
@nl
type
label
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
@ast
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
@en
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
@en-gb
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
@nl
prefLabel
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
@ast
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
@en
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
@en-gb
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
@nl
P2093
P2860
P356
P1476
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
@en
P2093
P2860
P356
10.1074/JBC.274.2.981
P407
P577
1999-01-08T00:00:00Z