Skin Microbial Composition and Genetic Mutation Analysis in Precision Medicine for Epidermolysis Bullosa
Curr Drug Targets. 2024 Apr 1. doi: 10.2174/0113894501290512240327091531. Online ahead of print.ABSTRACTEpidermolysis bullosa (EB) is an inherited skin disease representing a spectrum of rare genetic disorders. These conditions share the common trait that causes fragile skin, resulting in the development of blisters and erosions. The inheritance follows an autosomal pattern, and the array of clinical presentations leads to significant physical suffering, considerable morbidity, and mortality. Despite EB having no cure, effectively managing EB remains an exceptional challenge due to its rarity and complexity, occasionally c...
Source: Current Drug Targets - April 3, 2024 Category: Drugs & Pharmacology Authors: Inna Syafarina Maulida Mazaya Ariani Indrawati Sharfina Zahra Akbar Rifki Sadikin Caecilia Sukowati Source Type: research
Skin Microbial Composition and Genetic Mutation Analysis in Precision Medicine for Epidermolysis Bullosa
Curr Drug Targets. 2024 Apr 1. doi: 10.2174/0113894501290512240327091531. Online ahead of print.ABSTRACTEpidermolysis bullosa (EB) is an inherited skin disease representing a spectrum of rare genetic disorders. These conditions share the common trait that causes fragile skin, resulting in the development of blisters and erosions. The inheritance follows an autosomal pattern, and the array of clinical presentations leads to significant physical suffering, considerable morbidity, and mortality. Despite EB having no cure, effectively managing EB remains an exceptional challenge due to its rarity and complexity, occasionally c...
Source: Current Drug Targets - April 3, 2024 Category: Drugs & Pharmacology Authors: Inna Syafarina Maulida Mazaya Ariani Indrawati Sharfina Zahra Akbar Rifki Sadikin Caecilia Sukowati Source Type: research
Combined rituximab and belimumab to treat recalcitrant epidermolysis bullosa aquisita associated with systemic lupus erythematosus
Br J Dermatol. 2024 Apr 2:ljae141. doi: 10.1093/bjd/ljae141. Online ahead of print.NO ABSTRACTPMID:38561894 | DOI:10.1093/bjd/ljae141 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - April 2, 2024 Category: Dermatology Authors: Thomas J Tull Emma C Benton Kristina Semkova Natalie A Watson John B Mee Begona Lopez Jane Setterfield Barbara Carey Sajjad Ajmad Scott J Robbie Richard W Groves Giovanni Sanna David P D'Cruz Source Type: research
Combined rituximab and belimumab to treat recalcitrant epidermolysis bullosa aquisita associated with systemic lupus erythematosus
Br J Dermatol. 2024 Apr 2:ljae141. doi: 10.1093/bjd/ljae141. Online ahead of print.NO ABSTRACTPMID:38561894 | DOI:10.1093/bjd/ljae141 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - April 2, 2024 Category: Dermatology Authors: Thomas J Tull Emma C Benton Kristina Semkova Natalie A Watson John B Mee Begona Lopez Jane Setterfield Barbara Carey Sajjad Ajmad Scott J Robbie Richard W Groves Giovanni Sanna David P D'Cruz Source Type: research
Combined rituximab and belimumab to treat recalcitrant epidermolysis bullosa aquisita associated with systemic lupus erythematosus
Br J Dermatol. 2024 Apr 2:ljae141. doi: 10.1093/bjd/ljae141. Online ahead of print.NO ABSTRACTPMID:38561894 | DOI:10.1093/bjd/ljae141 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - April 2, 2024 Category: Dermatology Authors: Thomas J Tull Emma C Benton Kristina Semkova Natalie A Watson John B Mee Begona Lopez Jane Setterfield Barbara Carey Sajjad Ajmad Scott J Robbie Richard W Groves Giovanni Sanna David P D'Cruz Source Type: research
Dipeptidyl peptidase-4-mediated fibronectin processing evokes a pro-fibrotic extracellular matrix
Fibronectin serves as a platform to guide and facilitate deposition of collagen and fibrillin microfibrils. During development of fibrotic diseases, altered fibronectin deposition in the extracellular matrix (ECM) is generally an early event. Following this, dysregulated organization of fibrillins and fibrillar collagens occurs. Because fibronectin is an essential orchestrator of healthy ECM, perturbation of its ECM-organizational capacity may be involved in development of fibrosis. To investigate this, we employed recessive dystrophic epidermolysis bullosa (RDEB) as a disease model with progressive, severe dermal fibrosis...
Source: Journal of Investigative Dermatology - April 1, 2024 Category: Dermatology Authors: Karina A. Zeyer, Olivier Bornert, Valentin Nelea, Xinyi Bao, Alexandre Leytens, Svetlana Sharoyan, Gerhard Sengle, Alvard Antonyan, Leena Bruckner-Tuderman, J örn Dengjel, Dieter P. Reinhardt, Alexander Nyström Tags: Original Article Source Type: research
Consensus-based Guidelines for the Provision of Palliative Care for People Living with Epidermolysis Bullosa
To establish internationally actionable clinical recommendations for the provision of palliative care that applies to all people living with EB, their caregivers, and their healthcare providers. (Source: Pain Management Nursing)
Source: Pain Management Nursing - April 1, 2024 Category: Nursing Authors: Mark Popenhagen Source Type: research
Dipeptidyl Peptidase-4 –Mediated Fibronectin Processing Evokes a Profibrotic Extracellular Matrix
Fibronectin serves as a platform to guide and facilitate deposition of collagen and fibrillin microfibrils. During development of fibrotic diseases, altered fibronectin deposition in the extracellular matrix (ECM) is generally an early event. After this, dysregulated organization of fibrillins and fibrillar collagens occurs. Because fibronectin is an essential orchestrator of healthy ECM, perturbation of its ECM-organizational capacity may be involved in development of fibrosis. To investigate this, we employed recessive dystrophic epidermolysis bullosa as a disease model with progressive, severe dermal fibrosis. (Source: ...
Source: Journal of Investigative Dermatology - April 1, 2024 Category: Dermatology Authors: Karina A. Zeyer, Olivier Bornert, Valentin Nelea, Xinyi Bao, Alexandre Leytens, Svetlana Sharoyan, Gerhard Sengle, Alvard Antonyan, Leena Bruckner-Tuderman, J örn Dengjel, Dieter P. Reinhardt, Alexander Nyström Tags: Original Article Source Type: research
Nonsense variant readthrough therapy for epidermolysis bullosa
Br J Dermatol. 2024 Mar 26:ljae137. doi: 10.1093/bjd/ljae137. Online ahead of print.NO ABSTRACTPMID:38530166 | DOI:10.1093/bjd/ljae137 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - March 26, 2024 Category: Dermatology Authors: Martin Laimer Source Type: research
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta
Conclusion
These results indicate that COL17A1 variants are a frequent cause of dominantly inherited non-syndromic AI. Comparison of variants implicated in AI and JEB identifies similarities in type and distribution, with five identified in both conditions, one of which may also cause ERED. Increased availability of genetic testing means that more individuals will receive reports of heterozygous COL17A1 variants. We propose that patients with isolated AI or ERED, due to COL17A1 variants, should be considered as potential carriers for JEB and counselled accordingly, reflecting the importance of multidisciplinary care. (Sour...
Source: Journal of Medical Genetics - March 21, 2024 Category: Genetics & Stem Cells Authors: Hany, U., Watson, C. M., Liu, L., Smith, C. E. L., Harfoush, A., Poulter, J. A., Nikolopoulos, G., Balmer, R., Brown, C. J., Patel, A., Simmonds, J., Charlton, R., Acosta de Camargo, M. G., Rodd, H. D., Jafri, H., Antanaviciute, A., Moffat, M., Al-Jawad, Tags: Open access Genotype-phenotype correlations Source Type: research
Strategy for the optimization of read-through therapy for junctional epidermolysis bullosa with COL17A1 nonsense mutation
The read-through therapy suppresses premature termination codons and induces read-through activity consequently restoring missing proteins. Aminoglycosides are widely studied as read-through drugs in different human genetic disorders including hereditary skin diseases. Our previous work revealed that aminoglycosides have effect on COL17A1 nonsense mutations and represent a therapeutic option to alleviate disease severity. However, the amount of restored type XVII collagen (C17) in C17 deficient junctional epidermolysis bullosa (JEB-C17) keratinocytes was less than 1% relative to normal keratinocytes and was achieved only a...
Source: Journal of Investigative Dermatology - March 21, 2024 Category: Dermatology Authors: Saliha Beyza Sayar, Cristina Has Tags: Original Article Source Type: research
Methods for Decreasing Preweaning Mortality in a Fragile Mouse Model of Hypomorphic Collagen VII Deficiency
In this study, standard husbandry practices were enhanced by the addition of a softened diet, a nutritionally fortified dietary supplement, soft bedding, gentle handling techniques, decreased handling, lengthened weaning age, and dam productivity tracking. This alternative care plan was shown to increase the survival of a fragile recessive dystrophic epidermolysis bullosa mouse model, and some aspects could be used in developing a care plan for other fragile mouse strains.PMID:38508685 | DOI:10.30802/AALAS-CM-23-000087 (Source: Comparative Medicine)
Source: Comparative Medicine - March 20, 2024 Category: Zoology Authors: Chloe L Strege William C Miller Cindy Eide Jennifer Hubbard Jakub Tolar Source Type: research
Methods for Decreasing Preweaning Mortality in a Fragile Mouse Model of Hypomorphic Collagen VII Deficiency
In this study, standard husbandry practices were enhanced by the addition of a softened diet, a nutritionally fortified dietary supplement, soft bedding, gentle handling techniques, decreased handling, lengthened weaning age, and dam productivity tracking. This alternative care plan was shown to increase the survival of a fragile recessive dystrophic epidermolysis bullosa mouse model, and some aspects could be used in developing a care plan for other fragile mouse strains.PMID:38508685 | DOI:10.30802/AALAS-CM-23-000087 (Source: Comparative Medicine)
Source: Comparative Medicine - March 20, 2024 Category: Zoology Authors: Chloe L Strege William C Miller Cindy Eide Jennifer Hubbard Jakub Tolar Source Type: research
Orofacial Anomalies in Kindler Epidermolysis Bullosa
This cohort study examines whether hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermolysis bullosa, a genetic skin-blistering disease associated with recessive inherited pathogenic variants in FERMT1, which encodes kindlin-1. (Source: JAMA Dermatology)
Source: JAMA Dermatology - March 20, 2024 Category: Dermatology Source Type: research
Dominant dystrophic epidermolysis bullosa is associated with glycolytically active GATA3+ Th2 cells which may contribute to pruritus in lesional skin
CONCLUSIONS: Single-cell RNA-seq helps define an enhanced DDEB-associated Th2 profile and rationalizes drug repurposing of anti-Th2 drugs in treating DDEB pruritus.PMID:38477474 | DOI:10.1093/bjd/ljae110 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - March 13, 2024 Category: Dermatology Authors: Wilson Jr F Aala Ping-Chen Hou Yi-Kai Hong Yu-Chen Lin Yu-Rong Lee Wei-Ting Tu Marieta Papanikolaou Natashia Benzian-Olsson Alexandros Onoufriadis Hans I-Chen Harn Daw-Yang Hwang Siao Muk Cheng Kurt Lu Peng-Chieh Chen John A McGrath Chao-Kai Hsu Source Type: research
