Sophia Aristodemou

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 11 publications

Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.

Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.

Journal: Journal of the American Academy of Dermatology
Published: July 02, 2019

Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.

Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.

Journal: JCI insight
Published: December 05, 2018

Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility.

Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility.

Journal: Journal of dermatological science
Published: August 15, 2017

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

Journal: Matrix biology : journal of the International Society for Matrix Biology
Published: August 11, 2017

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex.

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex.

Journal: The Journal of investigative dermatology
Published: December 02, 2016

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.

Journal: The British journal of dermatology
Published: May 13, 2015

Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.

Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.

Journal: The British journal of dermatology
Published: October 05, 2014

Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.

Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.

Journal: The British journal of dermatology
Published: July 19, 2014

Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.

Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.

Journal: American journal of human genetics
Published: June 11, 2014

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.

Journal: The Journal of investigative dermatology
Published: January 28, 2014

Mutations in EXPH5 result in autosomal recessive inherited skin fragility.

Mutations in EXPH5 result in autosomal recessive inherited skin fragility.

Journal: The British journal of dermatology
Published: November 03, 2013
Showing 1-11 of 11

Last Updated: 09/26/2026