Autosomal Dominant Cutis Laxa with Severe Lung Disease: Synthesis and Matrix Deposition of Mutant Tropoelastin

Cigarette Smoking Induces Functional Antiprotease Deficiency in the Lower Respiratory Tract of Humans

James E. Gadek, G A Fells, Ronald G. Crystal · Science · 1979 · 399 citations

Veterinary Medicine, Internal Medicine, Innate Immunity +13

Phenotypic Alteration of Vascular Smooth Muscle Cells Precedes Elastolysis in a Mouse Model of Marfan Syndrome

Tracie E. Bunton, Nancy Jensen Biery, Loretha Myers et al. · Circulation Research · 2001 · 363 citations · Full text

Life Sciences, Genetics, Pathobiology +15

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

Bart Loeys · Human Molecular Genetics · 2002 · 315 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

[15] Isolation of genomic DNA

Bernhard G. Herrmann, Anna‐Maria Frischauf · Methods in enzymology on CD-ROM/Methods in enzymology · 1987 · 300 citations

Life Sciences, Genetics, Molecular Biology +10

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

Mayada Tassabehji · Human Molecular Genetics · 1998 · 187 citations · Full text

Medicine, Genetics, Molecular Genetics +16