Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis

A. Peled, Ofer Sarig, Liat Samuelov, +21

PLoS Genetics

Hair Follicle MorphogenesisGeneticsAffect ToothDermatologySignaling Pathway +18

A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in <i>PSENEN</i>

Mor Pavlovsky, Ofer Sarig, Marina Eskin‐Schwartz, +7

British Journal of Dermatology

Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A

Janan Mohamad, Ofer Sarig, Lisa M. Godsel, +15

Journal of Investigative Dermatology

Skin DevelopmentCornified Cell LayersCutaneous BiologyPathologyFilaggrin 2 +4

<scp>SVEP</scp>1 plays a crucial role in epidermal differentiation

Liat Samuelov, Qiaoli Li, Ron Bochner, +22

Experimental Dermatology

Cell AdhesionDermatologyCellular PhysiologyTranscriptional RegulationElectron Microscopy +16

Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions

Manuela Pigors, Ofer Sarig, Lisa Heinz, +10

The American Journal of Human Genetics

Protein FunctionBone Morphogenic ProteinIntercellular AdhesionsCell AdhesionExfoliative Ichthyosis +7

Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis

Ron Bochner, Liat Samuelov, Ofer Sarig, +26

Journal of Investigative Dermatology

MedicineAtypical CaseDevelopmental BiologyPathology

Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population

Janan Mohamad, Liat Samuelov, N. Malchin, +21

Experimental Dermatology

Middle‐eastern PopulationGeneralized ScalingMolecular EpidemiologyGeneticsGenetic Epidemiology +14

Efficient Flp-Int HK022 dual RMCE in mammalian cells

Eugenia Voziyanova, N. Malchin, Rachelle P. Anderson, +3

Nucleic Acids Research

Epidermolytic Ichthyosis Sine Epidermolysis

Marina Eskin‐Schwartz, Marianna B. Drozhdina, Ofer Sarig, +15

American Journal of Dermatopathology

MedicineCutaneous BiologyHistopathologyPathologyUpper Epidermis +7

Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location

Dan Vodo, Ofer Sarig, A. Peled, +4

Clinical and Experimental Dermatology

Central RegionAllergyAutoimmune DiseaseGenetic DisorderCutaneous Biology +10