Nathalie Jonca

Toulouse, France

Last Updated: 09/26/2026

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Found 40 publications

Potential of 3D Skin Models and N/TERT-2G Cell Line in Genetic Research on Autosomal Recessive Nonsyndromic Epidermal Differentiation Disorders.

Potential of 3D Skin Models and N/TERT-2G Cell Line in Genetic Research on Autosomal Recessive Nonsyndromic Epidermal Differentiation Disorders.

Journal: Experimental dermatology

Published: March 11, 2026

The Candle Spot: An Unreported Sign of SULT2B1-nEDD.

The Candle Spot: An Unreported Sign of SULT2B1-nEDD.

Journal: Acta dermato-venereologica

Published: December 12, 2025

Regulation of keratinocyte proliferation and epidermal inflammation by meprin α-mediated cleavage of dermokine.

Regulation of keratinocyte proliferation and epidermal inflammation by meprin α-mediated cleavage of dermokine.

Journal: The Journal of investigative dermatology

Published: October 02, 2025

A standardized approach to test missense PNPLA1 rare genetic variants of uncertain significance in epidermal differentiation disorders.

A standardized approach to test missense PNPLA1 rare genetic variants of uncertain significance in epidermal differentiation disorders.

Journal: JID innovations : skin science from molecules to population health

Published: August 14, 2025

Deletion of the Epidermal Protease KLK5 Aggravates the Symptoms of Congenital Ichthyosis CDSN-nEDD.

Deletion of the Epidermal Protease KLK5 Aggravates the Symptoms of Congenital Ichthyosis CDSN-nEDD.

Journal: International journal of molecular sciences

Published: August 04, 2025

Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma.

Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma.

Journal: Acta dermato-venereologica

Published: November 14, 2024

Management of congenital ichthyoses: guidelines of care: Part two: 2024 update.

Management of congenital ichthyoses: guidelines of care: Part two: 2024 update.

Journal: The British journal of dermatology

Published: August 02, 2024

Management of congenital ichthyoses: guidelines of care: Part one: 2024 update.

Management of congenital ichthyoses: guidelines of care: Part one: 2024 update.

Journal: The British journal of dermatology

Published: August 02, 2024

Strengthening the Skin Barrier by Using a Late Cornified Envelope 6A-Derived Biomimetic Peptide.

Strengthening the Skin Barrier by Using a Late Cornified Envelope 6A-Derived Biomimetic Peptide.

Journal: Experimental dermatology

Published: March 25, 2024

Leukocytes containing lipid inclusions in congenital ichthyosis without classical Chanarin-Dorfman mutations.

Leukocytes containing lipid inclusions in congenital ichthyosis without classical Chanarin-Dorfman mutations.

Journal: International journal of dermatology

Published: November 29, 2023

Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies.

Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies.

Journal: Journal of dermatological science

Published: August 18, 2023

French national protocol for the management of congenital ichthyosis.

French national protocol for the management of congenital ichthyosis.

Journal: Annales de dermatologie et de venereologie

Published: February 23, 2023

Showing 1-12 of 40

Last Updated: 09/26/2026