Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility

Zhimiao Lin, Shuo Li, Cheng Feng, +24

Nature Genetics

Human Skin FragilitySkin DevelopmentCutaneous BiologyDermatologyMedicine +2

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

Identification of a Functional Risk Variant for Pemphigus Vulgaris in the ST18 Gene

Dan Vodo, Ofer Sarig, Shamir Geller, +14

PLoS Genetics

GeneticsImmune RegulationImmunologyPathologySt18 Promoter Region +18

<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 Variants in SERPINA12 Underlie Autosomal Recessive Palmoplantar Keratoderma

Janan Mohamad, Ofer Sarig, Liron Malki, +12

Journal of Investigative Dermatology

Genetic DisorderGeneticsLoss-of-function VariantsMolecular GeneticsDermatology +2

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

ST18 affects cell–cell adhesion in pemphigus vulgaris in a tumour necrosis factor‐α‐dependent fashion*

Sari Assaf, Liron Malki, Talia Mayer, +7

British Journal of Dermatology

<scp>RBM</scp>28, a protein deficient in <scp>ANE</scp> syndrome, regulates hair follicle growth via miR‐203 and p63

Emily Warshauer, Liat Samuelov, Ofer Sarig, +16

Experimental Dermatology

Epidermolytic Ichthyosis Sine Epidermolysis

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

American Journal of Dermatopathology

MedicineCutaneous BiologyHistopathologyPathologyUpper Epidermis +7

Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis

Liron Malki, Ofer Sarig, Nicole Cesarato, +16

Genetics in Medicine