LB1719 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is an incurable and heritable disease that subjects its patients to severe skin blistering, scarring, and multiple internal organ damage, leading to high morbidity and mortality. It is caused by mutations in the COL7A1 gene which results in a dysfunctional type VII collagen (C7), a major component of anchoring fibrils in the epidermal basement membrane. While many treatment options are being developed for RDEB patients, they carry significant safety risks. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - August 21, 2023 Category: Dermatology Authors: J. Inen, P.S. McGrath, C. Han, G. Bilousova, I. Kogut Source Type: research
LB1730 Concordance in the secretome of recessive dystrophic epidermolysis bullosa and cellular senescence reveals COL7A1 dependent perturbations
Recessive dystrophic epidermolysis bullosa (RDEB) is a recessive congenital skin disease caused by biallelic pathogenic variants in the gene, COL7A1, which encodes type VII collagen (Col7). Deficiencies in Col7 cause a dysfunctional dermal-epidermal junction resulting in a clinical presentation that includes severe generalized blistering. Patients living with RDEB have a 90.1% risk of developing aggressive squamous cell carcinoma (SCC) with high metastatic potential at a considerably younger age (by age 55) relative to the general population, which suggests a premature aging phenotype. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - August 21, 2023 Category: Dermatology Authors: S.A. Koutsoukos, M. Pavlova, P.S. McGrath, S. McGarvey, J. Castillo Flores, A. Bruckner, D.R. Roop, I. Kogut, G. Bilousova Source Type: research
LB1779 Optimization of RDEB patient-derived induced pluripotent stem cell (iPSC) differentiation into keratinocytes and fibroblasts
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic skin blistering disease caused by pathogenic variants in the COL7A1 gene which codes for type VII collagen (C7). Alterations in this gene result in poor anchoring fibrils causing the epidermis to detach easily from the dermis. Clinically, the manifestations as repetitive skin blistering and scarring. To improve clinical care, interventions aimed at restoring C7 function are necessary, and one potential approach is through cell therapy. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - August 21, 2023 Category: Dermatology Authors: N.T. del Agua, H. Cheng, Y. Hong, J.A. McGrath, C. Hsu, C. Huang Source Type: research
LB1791 Oleogel-S10 (birch bark extract) in dystrophic epidermolysis bullosa: A case series evaluating the impact on wound burden over 2 years
Epidermolysis bullosa (EB) is a devastating group of rare, inherited diseases affecting epithelial integrity that results in tears, sores, blisters and debilitating wounds. Impaired wound healing is central and can lead to serious clinical complications, deformities, and symptoms with a devastating impact on QoL. The Phase 3 EASE study previously demonstrated that Oleogel-S10 accelerated wound healing and reduced wound burden in EB. This is the first report to evaluate the effectiveness of Oleogel-S10 in clinical practice. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - August 21, 2023 Category: Dermatology Authors: M. Torres-Pradilla, E. Álvarez, M. Novoa, I. Lozano, M. Trujillo Source Type: research
Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues
AbstractDystonin (DST), also known as bullous pemphigoid antigen 1 (BPAG1), encodes cytoskeletal linker proteins belonging to the plakin family. TheDST gene produces several isoforms, including DST-a, DST-b, and DST-e, which are expressed in neural, muscle, and cutaneous tissues, respectively. PathogenicDST mutations cause hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) and epidermolysis bullosa simplex (EBS); therefore, it is important to elucidate the roles of DST isoforms in multiple organs. Recently, we have used severalDst mutant mouse strains, in which the expression of Dst isoforms is disrupted in disti...
Source: Anatomical Science International - August 21, 2023 Category: Anatomy Source Type: research
The role of C5a receptors in autoimmunity
Immunobiology. 2023 Jun 20;228(5):152413. doi: 10.1016/j.imbio.2023.152413. Online ahead of print.ABSTRACTThe complement system is an essential component of the innate immune response and plays a vital role in host defense and inflammation. Dysregulation of the complement system, particularly involving the anaphylatoxin C5a and its receptors (C5aR1 and C5aR2), has been linked to several autoimmune diseases, indicating the potential for targeted therapies. C5aR1 and C5aR2 are seven-transmembrane receptors with distinct signaling mechanisms that play both partially overlapping and opposing roles in immunity. Both receptors a...
Source: Immunobiology - August 20, 2023 Category: Allergy & Immunology Authors: Jovan Schanzenbacher Katja Hendrika K ähler Evelyn Mesler Marie Kleingarn Christian Marcel Karsten Daniel Leonard Seiler Source Type: research
The role of C5a receptors in autoimmunity
Immunobiology. 2023 Jun 20;228(5):152413. doi: 10.1016/j.imbio.2023.152413. Online ahead of print.ABSTRACTThe complement system is an essential component of the innate immune response and plays a vital role in host defense and inflammation. Dysregulation of the complement system, particularly involving the anaphylatoxin C5a and its receptors (C5aR1 and C5aR2), has been linked to several autoimmune diseases, indicating the potential for targeted therapies. C5aR1 and C5aR2 are seven-transmembrane receptors with distinct signaling mechanisms that play both partially overlapping and opposing roles in immunity. Both receptors a...
Source: Immunobiology - August 20, 2023 Category: Allergy & Immunology Authors: Jovan Schanzenbacher Katja Hendrika K ähler Evelyn Mesler Marie Kleingarn Christian Marcel Karsten Daniel Leonard Seiler Source Type: research
The role of C5a receptors in autoimmunity
Immunobiology. 2023 Jun 20;228(5):152413. doi: 10.1016/j.imbio.2023.152413. Online ahead of print.ABSTRACTThe complement system is an essential component of the innate immune response and plays a vital role in host defense and inflammation. Dysregulation of the complement system, particularly involving the anaphylatoxin C5a and its receptors (C5aR1 and C5aR2), has been linked to several autoimmune diseases, indicating the potential for targeted therapies. C5aR1 and C5aR2 are seven-transmembrane receptors with distinct signaling mechanisms that play both partially overlapping and opposing roles in immunity. Both receptors a...
Source: Immunobiology - August 20, 2023 Category: Allergy & Immunology Authors: Jovan Schanzenbacher Katja Hendrika K ähler Evelyn Mesler Marie Kleingarn Christian Marcel Karsten Daniel Leonard Seiler Source Type: research
An uncommon case of epidermolysis bullosa acquisita associated with systemic sclerosis
Ann Dermatol Venereol. 2023 Aug 16:S0151-9638(23)00064-9. doi: 10.1016/j.annder.2023.06.003. Online ahead of print.NO ABSTRACTPMID:37596129 | DOI:10.1016/j.annder.2023.06.003 (Source: Annales de Dermatologie et de Cenereologie)
Source: Annales de Dermatologie et de Cenereologie - August 18, 2023 Category: Dermatology Authors: C Labonne D Boutin S Baali P Roblot E Frouin O Renaud E Hainaut M Masson Regnault Source Type: research
Herpes simplex virus gene therapy for dystrophic epidermolysis bullosa (DEB)
Cell. 2023 Aug 17;186(17):3523-3523.e1. doi: 10.1016/j.cell.2023.07.031.ABSTRACTThe FDA has recently approved Krystal biotech's beremagene geperpavec (B-VEC, Vyjuvek) to treat the wounds of dystrophic epidermolysis bullosa (DEB) patients. This represents a giant step, not only toward the treatment of this devastating disease, but also for the whole field of non-replicative (nr) recombinant HSV-1 vectors for gene therapy. To view this Bench to Bedside, open or download the PDF.PMID:37595560 | DOI:10.1016/j.cell.2023.07.031 (Source: Herpes)
Source: Herpes - August 18, 2023 Category: Infectious Diseases Authors: Alberto L Epstein Cornelia Haag-Molkenteller Source Type: research
An uncommon case of epidermolysis bullosa acquisita associated with systemic sclerosis
Ann Dermatol Venereol. 2023 Aug 16:S0151-9638(23)00064-9. doi: 10.1016/j.annder.2023.06.003. Online ahead of print.NO ABSTRACTPMID:37596129 | DOI:10.1016/j.annder.2023.06.003 (Source: Annales de Dermatologie et de Venereologie)
Source: Annales de Dermatologie et de Venereologie - August 18, 2023 Category: Dermatology Authors: C Labonne D Boutin S Baali P Roblot E Frouin O Renaud E Hainaut M Masson Regnault Source Type: research
An uncommon case of epidermolysis bullosa acquisita associated with systemic sclerosis
Ann Dermatol Venereol. 2023 Aug 16:S0151-9638(23)00064-9. doi: 10.1016/j.annder.2023.06.003. Online ahead of print.NO ABSTRACTPMID:37596129 | DOI:10.1016/j.annder.2023.06.003 (Source: Annales de Dermatologie et de Cenereologie)
Source: Annales de Dermatologie et de Cenereologie - August 18, 2023 Category: Dermatology Authors: C Labonne D Boutin S Baali P Roblot E Frouin O Renaud E Hainaut M Masson Regnault Source Type: research
Treatment With Ataluren for Wound Healing and Health Complications in a Patient With Junctional Epidermolysis Bullosa
This case report describes an 11-year-old boy with widespread chronic wounds, frequent corneal erosions, dental caries, a tracheostomy, and failure to thrive. (Source: JAMA Dermatology)
Source: JAMA Dermatology - August 16, 2023 Category: Dermatology Source Type: research
Autoimmunity against laminin 332
Laminin 332 is a heterotrimeric structural protein of the basal membrane zone (BMZ) of the skin and adjacent mucosal tissues. The importance of laminin 332 for the structural integrity of the BMZ is demonstrated by mutations in any of the three genes encoding for its three chains causing variants of junctional epidermolysis bullosa. Autoimmunity against laminin 332 is observed in mucous membrane pemphigoid (MMP) and in the rare patients with orf-induced pemphigoid. MMP is an autoimmune blistering disease with predominant mucosal manifestations and autoantibodies against the BMZ of the skin and orifice-close mucous membrane...
Source: Frontiers in Immunology - August 10, 2023 Category: Allergy & Immunology Source Type: research
How to adapt orthodontic treatment for a patient with a general pathology? Review of the literature based on six scenarios that challenge the practitioner
CONCLUSION: None of these situations constituted an absolute contraindication to orthodontic treatment. However, if surgical procedures with potential for complications were necessary, a compromise should then be discussed in order to provide the best benefit/risk balance for patients.PMID:37553886 | DOI:10.1684/orthodfr.2023.127 (Source: L' Orthodontie Francaise)
Source: L' Orthodontie Francaise - August 9, 2023 Category: Dentistry Authors: Cyril Desbarats Jean-Baptiste Kerbrat Baptiste Derombise Neil Ben Slama Olivier Trost Source Type: research
