Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (LAMININ–5)

Daniel Aberdam, M. Galliano, Joëlle Vailly, +8

Nature Genetics

Skin Developmentγ2 SubunitGlycobiologyMolecular BiologyDermatology +3

Corrective Transduction of Human Epidermal Stem Cells in Laminin-5-Dependent Junctional Epidermolysis Bullosa

Elena Dellambra, Joëlle Vailly, Graziella Pellegrini, +6

Human Gene Therapy

The 100‐kDa chain of nicein/kalinin is a laminin B2 chain variant

Joëlle Vailly, Patrick Verrando, Marie-France Champliaud, +7

European Journal of Biochemistry

Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia

Joëlle Vailly, Elena Dellambra, Carmen Romero, +5

Gene Therapy

Regenerative MedicineReconstructed EpitheliaMedicineCutaneous BiologySkin Substitute +7

Identification of a Homozygous One-Basepair Deletion in Exon 14 of the LAMB3 in a Patient with Herlitz Junctional Epidermolysis Bullosa and Prenatal Diagnosis in a Family at Risk for Recurrence

Joëlle Vailly, Leena Pulkkinen, Corinne Miquel, +6

Journal of Investigative Dermatology

Homozygous One-basepair DeletionAnimal ScienceVeterinary SciencePathologyEducation +5

Functional Re-expression of Laminin-5 in Laminin-γ2-deficient Human Keratinocytes Modifies Cell Morphology, Motility, and Adhesion

G Laurent, Joëlle Vailly, Monique Durand‐Clément, +3

Journal of Biological Chemistry

Cell AdhesionMolecular BiologyFunctional Re-expressionCytoskeletonDermatology +14

Germ line transmission of autonomous genetic elements in transgenic mouse strains

Minoo Rassoulzadegan, Pierre Léopold, Joëlle Vailly, +1

Cell

BiologyKnockout MouseGerm CellTransgenic Mouse ModelsGerm Line Transmission +8

Identification of a Homozygous Exon-Skipping Mutation in the LAMC2 Gene in a Patient with Herlitz's Junctional Epidermolysis Bullosa

Joëlle Vailly, Leena Pulkkinen, Angela M. Christiano, +4

Journal of Investigative Dermatology

Homozygous Exon-skipping MutationMendelian DisorderGenetic DisorderMedicineGenetics +5

The Genes for Nicein/Kalinin 125- and 100-kDa Subunits, Candidates for Junctional Epidermolysis Bullosa, Map to Chromosomes 1q32 and 1q25-q31

Joëlle Vailly, Pierre Szepetowski, Marie‐Geneviève Mattéi, +4

Genomics

CytogeneticsGenetics100-Kda SubunitsMolecular BiologyChromosome Biology +6

The expansion of abnormality and the biomedical norm: Neonatal screening, prenatal diagnosis and cystic fibrosis in France

Joëlle Vailly

Social Science & Medicine

Early DiagnosisBiomedical NormNewborn ScreeningNeonatologyDiagnosis +6