Investigational treatments for epidermolysis bullosa

PC Hou, HT Wang, S Abhee, WT Tu… - American Journal of …, 2021 - Springer
Epidermolysis bullosa (EB) is a heterogeneous group of rare inherited blistering skin
disorders characterized by skin fragility following minor trauma, usually present since birth …

Keratin disorders: from gene to therapy

WHI McLean, CBT Moore - Human molecular genetics, 2011 - academic.oup.com
The term 'keratin'is generally accepted to refer to the epithelial keratins of soft and hard
epithelial tissues such as: skin, cornea, hair and nail. Since their initial characterization, the …

CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting

DG Courtney, JE Moore, SD Atkinson, E Maurizi… - Gene therapy, 2016 - nature.com
CRISPR/Cas9-based therapeutics hold the possibility for permanent treatment of genetic
disease. The potency and specificity of this system has been used to target dominantly …

Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders

KA Christie, DG Courtney, LA DeDionisio, CC Shern… - Scientific reports, 2017 - nature.com
CRISPR/Cas9 holds immense potential to treat a range of genetic disorders. Allele-specific
gene disruption induced by non-homologous end-joining (NHEJ) DNA repair offers a …

Keratins and disease at a glance

RL Haines, EB Lane - Journal of cell science, 2012 - journals.biologists.com
Keratins are cytoskeletal filament-forming proteins found in skin and other epithelial (sheet)
tissues (Table 1). Keratins (type I and II), and other highly related (types III–VI) intermediate …

[HTML][HTML] Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath

PA Coulombe, CH Lee - Journal of investigative dermatology, 2012 - Elsevier
Epidermolysis bullosa simplex (EBS) is a rare genetic condition typified by superficial
bullous lesions following incident frictional trauma to the skin. Most cases of EBS are due to …

[HTML][HTML] Topical siRNA delivery to the cornea and anterior eye by hybrid silicon-lipid nanoparticles

P Baran-Rachwalska, N Torabi-Pour, FM Sutera… - Journal of Controlled …, 2020 - Elsevier
The major unmet need and crucial challenge hampering the exciting potential of RNAi
therapeutics in ophthalmology is to find an effective, safe and non-invasive means of …

Nucleic acid delivery into skin for the treatment of skin disease: Proofs-of-concept, potential impact, and remaining challenges

M Zakrewsky, S Kumar, S Mitragotri - Journal of Controlled Release, 2015 - Elsevier
Nucleic acids (NAs) hold significant potential for the treatment of several diseases. Topical
delivery of NAs for the treatment of skin diseases is especially advantageous since it …

The genetics of skin fragility

C Has, L Bruckner-Tuderman - Annual Review of Genomics and …, 2014 - annualreviews.org
Genetic skin fragility manifests with diminished resistance of the skin and mucous
membranes to external mechanical forces and with skin blistering, erosions, and painful …

Beyond expectations: novel insights into epidermal keratin function and regulation

M Homberg, TM Magin - International review of cell and molecular biology, 2014 - Elsevier
The epidermis is a stratified epithelium that relies on its cytoskeleton and cell junctions to
protect the body against mechanical injury, dehydration, and infections. Keratin intermediate …