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

(2011) Bert Callewaert et al.   HUMAN MUTATION

Cutis laxa: autosomal dominant inheritance in five generations

(2010) A. Damkier et al.   CLINICAL GENETICS

Mechanisms of emphysema in autosomal dominant cutis laxa

(2010) Qirui Hu et al.   MATRIX BIOLOGY

Noninvasive and Invasive Pulmonary Function in Mouse Models of Obstructive and Restrictive Respiratory Diseases

(2009) Jeroen A. J. Vanoirbeek et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Differential Regulation of Elastic Fiber Formation by Fibulin-4 and -5

(2009) Rawshan Choudhury et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene

(2008) Luitgard M. Graul-Neumann et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Characterization of the Molecular Interaction between Tropoelastin and DANCE/Fibulin-5

(2008) H. Wachi et al.   JOURNAL OF BIOCHEMISTRY

Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome

(2008) Barbara R. Pober et al.   JOURNAL OF CLINICAL INVESTIGATION

A p.C217R Mutation in Fibulin-5 from Cutis Laxa Patients Is Associated with Incomplete Extracellular Matrix Formation in a Skin Equivalent Model

(2008) Stephanie Claus et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY