Sari Assaf
Tel Aviv, TA, Israel
Last Updated: 09/26/2026
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Found 17 publications
Targeting ST18-mediated pathomechanism in pemphigus vulgaris through voltage-dependent anion channel inhibition.
Journal: Skin health and disease
Published: October 30, 2025
Expanding the Phenotypic Spectrum of PIK3CA-Related Disorders.
Journal: International journal of dermatology
Published: June 04, 2025
Loss-of-function variants in DUSP1 encoding dual specificity phosphatase 1 cause palmoplantar keratoderma.
Journal: The British journal of dermatology
Published: March 28, 2025
HMCN1 variants aggravate epidermolysis bullosa simplex phenotype.
Journal: The Journal of experimental medicine
Published: May 11, 2024
Defective cathepsin Z affects EGFR expression and causes autosomal dominant palmoplantar keratoderma.
Journal: The British journal of dermatology
Published: March 04, 2023
Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.
Journal: American journal of medical genetics. Part A
Published: June 23, 2022
A unique skin phenotype resulting from a large heterozygous deletion spanning six keratin genes.
Journal: The British journal of dermatology
Published: June 11, 2022
Up-regulation of ST18 in pemphigus vulgaris drives a self-amplifying p53-dependent pathomechanism resulting in decreased desmoglein 3 expression.
Journal: Scientific reports
Published: November 24, 2021
Loss-of-function variants in KLF4 underlie autosomal dominant palmoplantar keratoderma.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 29, 2021
Coexistence of pachyonychia congenita and hidradenitis suppurativa: more than a coincidence.
Journal: The British journal of dermatology
Published: July 24, 2021
Epidermolytic epidermal nevus caused by a somatic mutation in KRT2.
Journal: Pediatric dermatology
Published: February 08, 2021
Last Updated: 09/26/2026