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

Keyphrases

• Cutis Laxa 100%
• Apoptosis 40%
• Proband 40%
• Elastin 40%
• Endoplasmic Reticulum Stress (ER stress) 40%
• Mutation Specific 40%
• Tropoelastin 40%
• Exon 40%
• Transforming Growth Factor-β Signaling 40%
• Aortic Root Dilatation 40%
• Mutant Protein 20%
• Electron Microscopy 20%
• Compound Heterozygous mutation 20%
• Protein Expression 20%
• Quantitative PCR 20%
• Fibroblasts 20%
• Monozygotic Twins 20%
• Emphysema 20%
• Pulmonary Complications 20%
• Skinfolds 20%
• Microfibrils 20%
• Coacervation 20%
• Systemic Disease 20%
• Globules 20%
• Bicuspid Aortic Valve 20%
• Cardiovascular Complications 20%
• Skipping 20%
• Mild Phenotype 20%
• Specific Difference 20%
• Elastic Fiber Fragmentation 20%
• Exon 28 20%
• Stable mutants 20%
• Fibroblast Culture 20%
• Loose Skin 20%
• CL-6 20%
• ELN Gene 20%
• Facial Appearance 20%
• Severe Emphysema 20%

Medicine and Dentistry

• Autosomal Dominant Inheritance 100%
• Cutis Laxa 100%
• Pathogenesis 100%
• Exon 60%
• Elastin 40%
• Endoplasmic Reticulum Stress 40%
• Programmed Cell Death 40%
• Tropoelastin 40%
• Emphysema 40%
• Transforming Growth Factor Beta 40%
• Aortic Root 40%
• Fibroblast 40%
• Protein Expression 20%
• Electron Microscopy 20%
• Elastic Fiber 20%
• Facies 20%
• Systemic Disease 20%
• Bicuspid Aortic Valve 20%
• Skinfold 20%
• Monozygotic Twins 20%
• Mutant Protein 20%
• Cardiovascular System 20%
• Messenger RNA 20%
• Reverse Transcription Polymerase Chain Reaction 20%
• Facial Appearance 20%

Biochemistry, Genetics and Molecular Biology

• Autosomal Dominant Inheritance 100%
• Exon 60%
• Proband 40%
• Endoplasmic Reticulum Stress 40%
• Tropoelastin 40%
• Transforming Growth Factor Beta 40%
• Elastin 40%
• Programmed Cell Death 40%
• Mutant Protein 20%
• Protein Expression 20%
• Electron Microscopy 20%
• Monozygotic Twins 20%
• Elastic Fiber 20%
• Coacervation 20%
• Staining 20%
• Fibroblast Culture 20%
• Messenger RNA 20%
• Fibroblast 20%
• Reverse Transcription Polymerase Chain Reaction 20%