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Weekly Intraperitoneal Injection of Tamoxifen in an Inducible In Vivo Model of Junctional Epidermolysis Bullosa Generates Early and Advanced Disease Phenotypes.
JID Innov
March 2025
Cell Biology & Cutaneous Research, Blizard Institute, Queen Mary University of London, London, United Kingdom.
Junctional epidermolysis bullosa caused by loss-of-function variants in genes encoding the skin basement membrane proteins laminin 332, type XVII collagen, or integrin α6β4 affects patients from birth with severe blistering, eventually leading to scarring and early lethality. In this study, we have optimized a previously published junctional epidermolysis bullosa-knockout mouse model with weekly tamoxifen intraperitoneal injections, resulting in a more controllable and severe model. Owing to the titratable dosing, this model now recapitulates both early and advanced stages of the human disease, strengthening its use in therapeutic studies.
View Article and Find Full Text PDFPrevalence of Crown Resorption in Amelogenesis Imperfecta due to Junctional Epidermolysis Bullosa.
Oral Dis
January 2025
Facultad de Odontología, Universidad de Chile, Santiago, Chile.
Introduction: Junctional epidermolysis bullosa (JEB) is a rare genetic disease manifesting with skin and mucosal blistering. As part of the JEB, patients present with syndromic amelogenesis imperfecta (AI). Reports have described external crown resorption (ECR) in the teeth of patients with JEB, but its prevalence is unknown.
View Article and Find Full Text PDFPrenatal Diagnosis of LAMA 3 Mutation, responsible for Junctional Epidermolysis.
J Obstet Gynaecol India
December 2024
Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, Nagpur, India.
Correlation between measured oral health and oral health-related quality of life in people with epidermolysis bullosa: a prospective cohort study.
BMC Oral Health
December 2024
Department of Cranio-Maxillofacial Surgery, University Hospital Münster, Münster, Germany.
Background: Inherited epidermolysis bullosa (EB) is a genetic disorder characterized by skin fragility and unique oral features. This prospective study aimed to analyze the correlation between oral health-related quality of life (OHRQoL) and the objectively measured oral health indices of people suffering from EB and within their subtypes.
Methods: The German version of the Oral Health Impact Profile (OHIP-14G) was employed for the assessment of OHRQoL.
Non-Herlitz junctional epidermolysis bullosa in a Native American newborn.
J Osteopath Med
December 2024
448838 Burrell College of Osteopathic Medicine, Las Cruces, NM, USA.
This case report details the presentation, diagnosis, and management of a newborn Native American male with non-Herlitz junctional epidermolysis bullosa (JEB), a rare diagnosis specifically in the Native American population. Genetic analysis revealed a homozygous mutation in the COL17A1 gene. The management involved multidisciplinary care and highlighted the challenges in treatment, including pain management, wound care, and ethical considerations surrounding adoption within Indigenous communities.
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