Results 41 to 50 of about 13,589 (213)

Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia

Frontiers in Genetics, 2022
Epidermolysis bullosa (EB) is a rare heterogeneous genetic mechanobullous skin disorder that is characterized by increased skin fragility leading to blistering following minor trauma. EB may be inherited as an autosomal dominant or an autosomal recessive
Raghad Alharthi, Raghad Alharthi, Muhannad A. Alnahdi, Muhannad A. Alnahdi, Ahad Alharthi, Seba Almutairi, Seba Almutairi, Sultan Al-Khenaizan, Sultan Al-Khenaizan, Mohammed A. AlBalwi, Mohammed A. AlBalwi, Mohammed A. AlBalwi   +11 more
doaj   +1 more source

LAMB3 Missense Variant in Australian Shepherd Dogs with Junctional Epidermolysis Bullosa

Genes, 2020
In a highly inbred Australian Shepherd litter, three of the five puppies developed widespread ulcers of the skin, footpads, and oral mucosa within the first weeks of life.
S. Kiener, A. Laprais, E. Mauldin, V. Jagannathan, T. Olivry, T. Leeb   +5 more
semanticscholar   +1 more source

Recurrent urinary retention: An unusual presentation of laryngo-onycho-cutaneous syndrome

Indian Journal of Paediatric Dermatology, 2020
Laryngo-onycho-cutaneous (LOC) first described by Shabbir in 1986 in Muslim families from Punjab is a rare autosomal recessive disorder characterized by increased skin and mucous membrane fragility associated with exuberant granulation.
Aradhana Sood, Anuj Bhatnagar, Amit Aggarwal, Neerja Saraswat   +3 more
doaj   +1 more source

The challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers

Orphanet Journal of Rare Diseases, 2020
Background Little information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges faced by patients with different disease types/subtypes.
Anna L. Bruckner, Michael Losow, Jayson Wisk, Nita Patel, Allen Reha, Hjalmar Lagast, Jamie Gault, Jayne Gershkowitz, Brett Kopelan, Michael Hund, Dedee F. Murrell   +10 more
doaj   +1 more source

Single-keratinocyte transcriptomic analyses identify different clonal types and proliferative potential mediated by FOXM1 in human epidermal stem cells

Nature Communications, 2021
Epidermal cultures can treat skin diseases, such as Junctional Epidermolysis Bullosa, but the signature of stem cells is unclear. By single cell RNAseq analyses on human keratinocytes, the authors identify the molecular profile of holoclones and the role
Elena Enzo, Alessia Secone Seconetti, Mattia Forcato, Elena Tenedini, Maria Pia Polito, Irene Sala, Sonia Carulli, Roberta Contin, Clelia Peano, Enrico Tagliafico, Silvio Bicciato, Sergio Bondanza, Michele De Luca   +12 more
doaj   +1 more source

Aberrant splicing as potential modifier of the phenotype of junctional epidermolysis bullosa

Journal of the European Academy of Dermatology and Venereology, 2020
A lack or dysfunction of the anchoring protein laminin‐332 in the basement membrane leads to the skin blistering disorder junctional epidermolysis bullosa (JEB).
R. Mittwollen, S. Wohlfart, J. Park, E. Grosch, C. Has, E. Hohenester, H. Schneider, J. Hammersen   +7 more
semanticscholar   +1 more source

BP180 gene delivery in junctional epidermolysis bullosa [PDF]

Gene Therapy, 1999
Epidermolysis bullosa (EB) comprises a family of inherited blistering skin diseases for which current therapy is only palliative. Junctional EB (JEB) involves dissociation of the dermal-epidermal junction and results from mutations in a number of genes that encode vital structural proteins, including BP180 (type XVII collagen/BPAG2).
C S, Seitz, G J, Giudice, S D, Balding, M P, Marinkovich, P A, Khavari   +4 more
openaire   +2 more sources

Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine

Frontiers in Medicine, 2019
Junctional epidermolysis bullosa (JEB) is a hereditary blistering disease caused by reduced dermal-epidermal adhesion due to deficiencies of one of the proteins, laminin-332, type XVII collagen, integrin α6β4 or integrin α3. Significant progress has been
I. Condrat, Yinghong He, R. Cosgarea, C. Has   +3 more
semanticscholar   +1 more source

CRISPR/Cas9-Mediated In Situ Correction of LAMB3 Gene in Keratinocytes Derived from a Junctional Epidermolysis Bullosa Patient.

Molecular Therapy, 2018
Deficiency of basement membrane heterotrimeric laminin 332 component, coded by LAMA3, LAMB3, and LAMC2 genes, causes junctional epidermolysis bullosa (JEB), a severe skin adhesion defect.
D. Benati, Francesca Miselli, F. Cocchiarella, Clarissa Patrizi, M. Carretero, S. Baldassarri, V. Ammendola, C. Has, S. Colloca, M. del Río, F. Larcher, A. Recchia   +11 more
semanticscholar   +1 more source

Incidence of P200 pemphigoid: A nationwide study

Journal of the European Academy of Dermatology and Venereology, EarlyView.
The anti‐LAMB4 cell‐based immunoassay is a new serological technique that is far superior to dermal immunoblotting for detecting autoantibodies directed against the P200 protein. This method allows a re‐evaluation of the incidence of P200 pemphigoid, which appears to be considerably more frequent than epidermolysis bullosa acquisita.
Fabienne Jouen, Marion Carrette, Marie‐Laure Golinski, Maud Maho‐Vaillant, Alexis Lefebvre, André Gillibert, Pascal Joly, Vivien Hébert   +7 more
wiley   +1 more source