siRNA: Mechanism of action, challenges, and therapeutic approaches

W Alshaer, H Zureigat, A Al Karaki, A Al-Kadash… - European journal of …, 2021 - Elsevier
Owing to specific and compelling gene silencing, RNA interference (RNAi) is expected to
become an essential approach in treating a variety of infectious, hemato-oncological …

Hidradenitis suppurativa: a comprehensive review

A Alikhan, PJ Lynch, DB Eisen - Journal of the American Academy of …, 2009 - Elsevier
Hidradenitis suppurativa, also known as acne inversa, is a chronic, often debilitating disease
primarily affecting the axillae, perineum, and inframammary regions. Prevalence rates of up …

The expanding significance of keratin intermediate filaments in normal and diseased epithelia

X Pan, RP Hobbs, PA Coulombe - Current opinion in cell biology, 2013 - Elsevier
Intermediate filaments are assembled from a diverse group of evolutionary conserved
proteins and are specified in a tissue-dependent, cell type-dependent, and context …

First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder

SA Leachman, RP Hickerson, ME Schwartz… - Molecular Therapy, 2010 - cell.com
The rare skin disorder pachyonychia congenita (PC) is an autosomal dominant syndrome
that includes a disabling plantar keratoderma for which no satisfactory treatment is currently …

Keratin 16 regulates innate immunity in response to epidermal barrier breach

JC Lessard, S Piña-Paz, JD Rotty… - Proceedings of the …, 2013 - National Acad Sciences
Mutations in the type I keratin 16 (Krt16) and its partner type II keratin 6 (Krt6a, Krt6b) cause
pachyonychia congenita (PC), a disorder typified by dystrophic nails, painful hyperkeratotic …

Keratin gene mutations in disorders of human skin and its appendages

JC Chamcheu, IA Siddiqui, DN Syed… - Archives of biochemistry …, 2011 - Elsevier
Keratins, the major structural protein of all epithelia are a diverse group of cytoskeletal
scaffolding proteins that form intermediate filament networks, providing structural support to …

Current RNA-based therapeutics in clinical trials

LY Zhou, Z Qin, YH Zhu, ZY He, T Xu - Current Gene Therapy, 2019 - ingentaconnect.com
Long-term research on various types of RNAs has led to further understanding of diverse
mechanisms, which eventually resulted in the rapid development of RNA-based …

[HTML][HTML] Highly branched poly (β-amino ester) s for gene delivery in hereditary skin diseases

M Zeng, Q Xu, D Zhou, A Sigen, F Alshehri… - Advanced drug delivery …, 2021 - Elsevier
Non-viral gene therapy for hereditary skin diseases is an attractive prospect. However,
research efforts dedicated to this area are rare. Taking advantage of the branched structural …

Diseases of the tooth: the genetic and molecular basis of inherited anomalies affecting the dentition

MT Cobourne, PT Sharpe - Wiley Interdisciplinary Reviews …, 2013 - Wiley Online Library
In humans, inherited variation in the number, size, and shape of teeth within the dentitions
are relatively common, while rarer defects of hard tissue formation, including amelogenesis …

A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita

MJ Eliason, SA Leachman, B Feng… - Journal of the American …, 2012 - Elsevier
BACKGROUND: Pachyonychia congenita (PC) is a group of autosomal dominant
keratinizing disorders caused by a mutation in one of 4 keratin genes. Previous classification …