Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, +28

The American Journal of Human Genetics

MechanobiologyDevelopmental AnomalyEither Enpp1Arterial CalcificationGenetics +5

Pseudoxanthoma Elasticum-Like Phenotype with Cutis Laxa and Multiple Coagulation Factor Deficiency Represents a Separate Genetic Entity

Olivier Vanakker, Ludovic Martin, Dealba Gheduzzi, +8

Journal of Investigative Dermatology

Cutis LaxaGeneticsPathogenesisSeparate Genetic EntityPathology +6

Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase

Shira G. Ziegler, Carlos R. Ferreira, Elena Gallo MacFarlane, +10

Science Translational Medicine

The vascular phenotype in Pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcification

Georges Lefthériotis, Loukman Omarjee, Olivier Le Saux, +5

Frontiers in Genetics

Elastic Fiber FragmentationVascular DiseaseVascular PhenotypeVascular MalformationPathology +15

Novel ABCC6 Mutations in Pseudoxanthoma Elasticum

Nicolas Chassaing, Ludovic Martin, Laurence Barrié, +4

Journal of Investigative Dermatology

Crystal StructureStructural BioinformaticsProtein X-ray CrystallographyMolecular BiologyNovel Abcc6 Mutations +3

Prevalence of inherited ichthyosis in France: a study using capture-recapture method

I. Dreyfus, Cécile Chouquet, Khaled Ezzedine, +11

Orphanet Journal of Rare Diseases

Segmental and nonsegmental childhood vitiligo has distinct clinical characteristics: A prospective observational study

J. Mazereeuw‐Hautier, Sophie Bezio, E. Mahé, +10

Journal of the American Academy of Dermatology

Prospective Observational StudyPediatricsPathologyDistinct Clinical CharacteristicsNonsegmental Childhood Vitiligo

Serum Factors from Pseudoxanthoma Elasticum Patients Alter Elastic Fiber Formation In Vitro

Olivier Le Saux, Severa Bunda, Christopher M. VanWart, +4

Journal of Investigative Dermatology

MechanobiologyTissue EngineeringFibrosisEngineeringBiomechanics +8

Pyrophosphate Supplementation Prevents Chronic and Acute Calcification in ABCC6-Deficient Mice

Viola Pomozi, Christopher Brampton, Koen van de Wetering, +12

American Journal Of Pathology

Energy MetabolismSignal TransductionBiochemistryCellular NutritionAcute Calcification +7

The molecular and physiological roles of ABCC6: more than meets the eye

Olivier Le Saux, Ludovic Martin, Zouhair Aherrahrou, +3

Frontiers in Genetics

Vascular DiseaseMolecular RegulationArterial CalcificationMolecular BiologyPathology +26