Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

Olivier Le Saux, Zsolt Urbán, Cordula Tschuch, +10

Nature Genetics

BiologyNatural SciencesGeneticsDna ReplicationMolecular Biology +3

Loss of ATP-dependent Transport Activity in Pseudoxanthoma Elasticum-associated Mutants of Human ABCC6 (MRP6)

Attila Iliás, Zsolt Urbán, Thomas L. Seidl, +5

Journal of Biological Chemistry

A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum

Olivier Le Saux, Konstanze Beck, Christine Sachsinger, +10

The American Journal of Human Genetics

Abcc6 MutationsNatural SciencesGeneticsDna ReplicationMolecular Biology +4

Increases in Type III Collagen Gene Expression and Protein Synthesis in Patients with Inguinal Hernias

David Friedman, Charles D. Boyd, Peggy Norton, +4

Annals of Surgery

Connection between Elastin Haploinsufficiency and Increased Cell Proliferation in Patients with Supravalvular Aortic Stenosis and Williams-Beuren Syndrome

Zsolt Urbán, Sheila Riazi, Thomas L. Seidl, +5

The American Journal of Human Genetics

Vascular DiseaseUrologyCardiovascular DiseasePhysiologyWilliams-beuren Syndrome +9

Regulation of Collagen Gene Expression in Keloids and Hypertrophic Scars

David Friedman, Charles D. Boyd, James W. Mackenzie, +3

Journal of Surgical Research

Collagen Gene ExpressionFibrosisScar PreventionWound HealingDermatology +6

A New Gene with Sequence and Structural Similarity to the Gene Encoding Human Lysyl Oxidase

Youngho Kim, Charles D. Boyd, Katalin Csiszár

Journal of Biological Chemistry

GeneticsMolecular BiologyGene CharacterizationMolecular GeneticsDisease Gene Identification +17

Lysyl oxidase in development, aging and pathologies of the skin

Kornelia M. Szauter, Tongyu Cao, Charles D. Boyd, +1

Pathologie Biologie

Skin DevelopmentDevelopmental BiologyBiochemistryCutaneous BiologyWound Healing +6

A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis

Timothy M. Olson, Virginia V. Michels, Zsolt Urbán, +6

Human Molecular Genetics

Kb DeletionCardiovascular DiseasePediatric Heart DiseaseGeneticsPediatrics +11

Comparative immunocytochemical localization of lysyl oxidase (LOX) and the lysyl oxidase-like (LOXL) proteins: changes in the expression of LOXL during development and growth of mouse tissues

Kimiko Hayashi, Keith S. K. Fong, F. Mercier, +3

The Histochemical Journal

Knockout MouseDevelopmental BiologyOxysterolLipid PeroxidationLysyl Oxidase-like +9