New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. - Wikidata - awgldk - TriplyDB

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

http://www.wikidata.org/entity/Q36059909

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Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism Polymorphisms in the human tropoelastin gene modify in vitro self-assembly and mechanical properties of elastin-like polypeptides.Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center.Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa A novel elastin gene mutation in a Vietnamese patient with cutis laxa.Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability.Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa.Elastin in large artery stiffness and hypertension.Matrix-dependent perturbation of TGFβ signaling and disease Improving the rigor of mutation reports: biologic parentage and de novo mutations.Extracellular matrix and the mechanics of large artery development.A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia.Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.Hereditary Influence in Thoracic Aortic Aneurysm and Dissection.The utility of elastic Verhoeff-Van Gieson staining in dermatopathology.Single nucleotide polymorphisms and domain/splice variants modulate assembly and elastomeric properties of human elastin. Implications for tissue specificity and durability of elastic tissue.GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa.Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.Arterial tortuosity syndrome: 40 new families and literature review.Elastin in lung development and disease pathogenesis.A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.Skin findings in Williams syndrome.Elastin, arterial mechanics, and cardiovascular disease

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New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

http://www.wikidata.org/entity/Q36059909

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2011 nî lūn-bûn

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New insights into the pathogen ...... report of five ELN mutations.

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New insights into the pathogen ...... report of five ELN mutations.

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New insights into the pathogen ...... report of five ELN mutations.

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New insights into the pathogen ...... report of five ELN mutations.

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Alice Albino

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Beate Albrecht

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Edward Blair

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Fumiaki Sato

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Hiroshi Wachi

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Ingrid Hausser

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Marjolijn Renard

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Paul J Coucke

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Robert P Mecham

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Vishwanathan Hucthagowder

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P2860

Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)

Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

Mutations in PYCR1 cause cutis laxa with progeroid features

Genetic 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 syndrome

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

The molecular genetics of Marfan syndrome and related disorders

Myofibroblast contraction activates latent TGF-beta1 from the extracellular matrix

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