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
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
Th2 response drives itch in dystrophic epidermolysis bullosa pruriginosa: a case-control study
(Source: Journal of the American Academy of Dermatology)
Source: Journal of the American Academy of Dermatology - March 12, 2024 Category: Dermatology Authors: Marieta Papanikolaou, Leigh Nattkemper, Natashia Benzian-Olsson, Lu Liu, Alyson Guy, Han Lu, Tendai Kadiyirire, Ping-Chen Hou, Wilson Aala, Sonia Serrano, Rashida Pramanik, Nina Walters, Konstantina Dimitrakopoulou, Su Lwin, Emily Kalfas, Jose Satoc, Roma Source Type: research
Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa
EMBO Mol Med. 2024 Mar 10. doi: 10.1038/s44321-024-00048-8. Online ahead of print.ABSTRACTRecessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited skin disease characterized by defects in type VII collagen leading to a range of fibrotic pathologies resulting from skin fragility, aberrant wound healing, and altered dermal fibroblast physiology. Using a novel in vitro model of fibrosis based on endogenously produced extracellular matrix, we screened an FDA-approved compound library and identified antivirals as a class of drug not previously associated with anti-fibrotic action. Preclinical validation of our lead...
Source: Molecular Medicine - March 11, 2024 Category: Molecular Biology Authors: Grace Tartaglia Ignacia Fuentes Neil Patel Abigail Varughese Lauren E Israel Pyung Hun Park Michael H Alexander Shiv Poojan Qingqing Cao Brenda Solomon Zachary M Padron Jonathan A Dyer Jemima E Mellerio John A McGrath Francis Palisson Julio Salas-Alanis L Source Type: research
Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa
EMBO Mol Med. 2024 Mar 10. doi: 10.1038/s44321-024-00048-8. Online ahead of print.ABSTRACTRecessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited skin disease characterized by defects in type VII collagen leading to a range of fibrotic pathologies resulting from skin fragility, aberrant wound healing, and altered dermal fibroblast physiology. Using a novel in vitro model of fibrosis based on endogenously produced extracellular matrix, we screened an FDA-approved compound library and identified antivirals as a class of drug not previously associated with anti-fibrotic action. Preclinical validation of our lead...
Source: Molecular Medicine - March 11, 2024 Category: Molecular Biology Authors: Grace Tartaglia Ignacia Fuentes Neil Patel Abigail Varughese Lauren E Israel Pyung Hun Park Michael H Alexander Shiv Poojan Qingqing Cao Brenda Solomon Zachary M Padron Jonathan A Dyer Jemima E Mellerio John A McGrath Francis Palisson Julio Salas-Alanis L Source Type: research
Gene-edited cells: novel allogeneic gene/cell therapy for epidermolysis bullosa
This article attempts to summarize the current situation, potential development prospects, and some of the challenges related to the cell therapy approach for EB treatment.PMID:38459407 | DOI:10.1007/s13353-024-00839-2 (Source: J Appl Genet)
Source: J Appl Genet - March 8, 2024 Category: Genetics & Stem Cells Authors: Fatemeh Gila Vahab Alamdari-Palangi Maedeh Rafiee Arezoo Jokar Sajad Ehtiaty Aria Dianatinasab Seyyed Hossein Khatami Mortaza Taheri-Anganeh Ahmad Movahedpour Jafar Fallahi Source Type: research
Gene-edited cells: novel allogeneic gene/cell therapy for epidermolysis bullosa
This article attempts to summarize the current situation, potential development prospects, and some of the challenges related to the cell therapy approach for EB treatment.PMID:38459407 | DOI:10.1007/s13353-024-00839-2 (Source: J Appl Genet)
Source: J Appl Genet - March 8, 2024 Category: Genetics & Stem Cells Authors: Fatemeh Gila Vahab Alamdari-Palangi Maedeh Rafiee Arezoo Jokar Sajad Ehtiaty Aria Dianatinasab Seyyed Hossein Khatami Mortaza Taheri-Anganeh Ahmad Movahedpour Jafar Fallahi Source Type: research
Gene-edited cells: novel allogeneic gene/cell therapy for epidermolysis bullosa
This article attempts to summarize the current situation, potential development prospects, and some of the challenges related to the cell therapy approach for EB treatment.PMID:38459407 | DOI:10.1007/s13353-024-00839-2 (Source: J Appl Genet)
Source: J Appl Genet - March 8, 2024 Category: Genetics & Stem Cells Authors: Fatemeh Gila Vahab Alamdari-Palangi Maedeh Rafiee Arezoo Jokar Sajad Ehtiaty Aria Dianatinasab Seyyed Hossein Khatami Mortaza Taheri-Anganeh Ahmad Movahedpour Jafar Fallahi Source Type: research
Gene-edited cells: novel allogeneic gene/cell therapy for epidermolysis bullosa
This article attempts to summarize the current situation, potential development prospects, and some of the challenges related to the cell therapy approach for EB treatment.PMID:38459407 | DOI:10.1007/s13353-024-00839-2 (Source: J Appl Genet)
Source: J Appl Genet - March 8, 2024 Category: Genetics & Stem Cells Authors: Fatemeh Gila Vahab Alamdari-Palangi Maedeh Rafiee Arezoo Jokar Sajad Ehtiaty Aria Dianatinasab Seyyed Hossein Khatami Mortaza Taheri-Anganeh Ahmad Movahedpour Jafar Fallahi Source Type: research
Cost of hospitalization for care of children with Epidermolysis Bullosa in the US
(Source: Journal of the American Academy of Dermatology)
Source: Journal of the American Academy of Dermatology - March 8, 2024 Category: Dermatology Authors: Amar D. Desai, Amit Singal, Sara Behbahani, Yssra Soliman, Elena B. Hawryluk Source Type: research
The Need of Differential Diagnosis Between Vulvar Lichen Sclerosus and Autoimmune Dermatoses in Adolescent Girls
AbstractIntroductionVulvar lichen sclerosus (VLS) is a chronic inflammatory condition affecting the anogenital region, which can manifest in prepubertal or adolescent patients. The prevailing theories point to autoimmune and genetic factors. The primary symptoms of VLS typically include vulvar itching, discomfort, dysuria, and constipation. Physical examination often reveals a characteristic figure 8 pattern, involving the labia minora, clitoral hood, and perianal region. However, these symptoms and the age of onset are nonspecific and require differentiation from autoimmune dermatoses such as bullous diseases, pemphigus...
Source: Dermatology and Therapy - March 7, 2024 Category: Dermatology Source Type: research
GSE254347 Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa
Contributors : Grace Tartaglia ; Andrew SouthSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensRecessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited skin disease characterized by defects in type VII collagen leading to a range of fibrotic pathologies resulting from skin fragility, aberrant wound healing and altered dermal fibroblast physiology. Using a novel in vitro model of fibrosis based on endogenously produced extracellular matrix, we screened an FDA-approved compound library and identified antivirals as a class of drug not previously associated with anti-fibrotic...
Source: GEO: Gene Expression Omnibus - March 1, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Identification of novel < em > KRT5 < /em > gene variants in two Chinese patients with sporadic form of epidermolysis bullosa simplex: A case report
This study aimed to identify the pathogenic gene variants responsible for the sporadic form of EBS in two Chinese patients. Blood samples were collected from patients and their parents, and next-generation sequencing (NGS) was performed for variant screening. Two novel gene variants were identified within the KRT5 gene: c.1399A>T (p.Ile467Phe) in patient 1 and c.1412G>A (p.Arg471His) in patient 2. These variants were absent in the unaffected parents and a control group of 100 healthy individuals. These two novel gene variants within the KRT5 gene may be responsible for EBS, thus improving understanding of the genetic...
Source: Experimental and Therapeutic Medicine - February 28, 2024 Category: General Medicine Authors: Linli Liu Qinglian Lu Hui Luo Chunshui Yu Source Type: research
