Results 61 to 70 of about 3,777 (193)

Adjunctive Botulinum Toxin Type A for Bruxism and Sweat‐Worsened Facial Blistering in Recessive Dystrophic Epidermolysis Bullosa: A Case Series

JEADV Clinical Practice, Volume 5, Issue 2, Page 656-660, June 2026.
Capsule Summary Bruxism and sweat‐induced facial blisters can affect patients with Recessive Dystrophic Epidermolysis Bullosa (RDEB) quality of life (QoL). We present the outcomes of orofacial BTX‐A infiltrations to treat these conditions. Three patients with severe RDEB, bruxism and microstomia received BTX‐A infiltrations (50U‐100U) in masseters and ...
Susanne Krämer, Sebastián Véliz, Gina Pennacchiotti, Fernanda Salazar, María‐Beatriz Méndez   +4 more
wiley   +1 more source

Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa

Journal of Dermatological Science, 2012
FONDECYT
Rodríguez, Fernando A, Gana, María José, Yubero, María Joao, Zillmann, Gisela, Krämer, Susanne M, Catalán, Javiera, Rubio-Astudillo, Julia, González, Sergio, Liu, Lu, Ozoemena, Linda, Mellerio, Jemima E, Mellerio, Jemima M, McGrath, John A, Palisson, Francis, Conget, Paulette   +14 more
openaire   +5 more sources

Recurrent Mutations in the Type VII Collagen Gene (COL7A1) in Patients with Recessive Dystrophic Epidermolysis Bullosa

, 1997
Mutations in the type VII collagen gene (COL7A1) are known to underlie different forms of the inherited blistering skin disease dystrophic epidermolysis bullosa (DEB).
Christiano, Angela M., Eady, Robin A.J., Dunnill, M.Giles S., McGrath, John A., Uitto, Jouni, Mellerio, Jemima E., Ashton, Gabrielle H.S., Allison, Waridibe   +7 more
core   +1 more source

Clinicopathological Correlations of Compound Heterozygous COL7A1 Mutations in Recessive Dystrophic Epidermolysis Bullosa

, 1996
Recessive dystrophic epidermolysis bullosa is an inherited mechano-bullous disorder of skin and mucous membranes. Ultrastructurally, the disease is characterized by abnormalities of anchoring fibrils, attachment structures below the epidermal basement ...
Christiano, Angela M., Eady, Robin A.J., McGrath, John A., Richards, Allan J., Uitto, Jouni, Giles S. Dunnill, M., Michael Pope, F.   +6 more
core   +1 more source

Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.

PLoS ONE, 2021
Chiari Malformation Type 1 (CM-1) is characterized by herniation of the cerebellar tonsils below the foramen magnum and the presence of headaches and other neurologic symptoms.
Aintzane Urbizu, Melanie E Garrett, Karen Soldano, Oliver Drechsel, Dorothy Loth, Anna Marcé-Grau, Olga Mestres I Soler, Maria A Poca, Stephan Ossowski, Alfons Macaya, Francis Loth, Rick Labuda, Allison Ashley-Koch   +12 more
doaj   +1 more source

Assessing D‐Squame as a Minimally Invasive Technique to Evaluate the Cutaneous Immune Response mRNA in a Dog Model of Canine Atopic Dermatitis

Veterinary Dermatology, Volume 37, Issue 3, Page 353-364, June 2026.
ABSTRACT Background Canine atopic dermatitis (cAD) is a multifactorial, inherited skin disease, estimated to affect ≤ 15% of dogs. Studies of skin messenger mRNA in cAD currently use invasive methods, including blood sampling and biopsy collection, whilst advances in human atopic dermatitis study methodology have demonstrated reliable use of minimally ...
Xavier Langon, Marion Mosca, Nadège Milhau, Mélanie Legain, Adrien Idée, Didier Pin   +5 more
wiley   +1 more source

Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa: identification of nine novel mutations.

, 2005
Dystrophic epidemiolysis bullosa (DEB) is a rare clinically heterogeneous genodermatosis due to genetic defects in type VII collagen gene (COL7A1). Identification of COL7A1 mutations is a challenge since this gene comprises 118 exons and more than 300 ...
ZAMBRUNO G, GIANNETTI A, S. Barlati, MUSTONEN A, COLOMBI, Marina, M. Paradisi, POSTERARO P, CASTIGLIA D., PARADISI M, G. Zambruno, BARLATI, Sergio, D. Castiglia, GIANNETTI, Alberto, M. Colombi, P. Posteraro, A. Mustonen, M. Pascucci   +16 more
core   +1 more source

Tolerability and Feasibility of Minimally Invasive Canine Skin Sampling: Excellent Tolerability Meets Transcriptomic Challenges

Veterinary Dermatology, Volume 37, Issue 3, Page 375-385, June 2026.
ABSTRACT Background Advances in transcriptomics have driven the demand for minimally invasive, reproducible and high‐yield skin sampling methods, particularly for studying inflammatory skin diseases in companion animals. Hypothesis/Objectives We tested tolerability, feasibility and RNA quantity and quality of three minimally invasive skin sampling ...
Ina Herrmann, Lisa B. Mamo, Allison N. Dickey   +2 more
wiley   +1 more source

RIPK4 function interferes with melanoma cell adhesion and metastasis

Molecular Oncology, Volume 20, Issue 5, Page 1115-1139, May 2026.
RIPK4 promotes melanoma growth and spread. RIPK4 levels increase as skin lesions progress to melanoma. CRISPR/Cas9‐mediated deletion of RIPK4 causes melanoma cells to form less compact spheroids, reduces their migratory and invasive abilities and limits tumour growth and dissemination in mouse models.
Norbert Wronski, Sławomir Lasota, Ewelina Madej, Anna A. Brożyna, Małgorzata Szczygieł, Agnieszka Harazin‐Lechowska, Jan Czerbniak, Janusz Rys, Jaroslaw Czyz, Agnieszka Wolnicka‐Glubisz   +9 more
wiley   +1 more source

Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes

Molecular Therapy: Nucleic Acids, 2016
Clonal gene therapy protocols based on the precise manipulation of epidermal stem cells require highly efficient gene-editing molecular tools. We have combined adeno-associated virus (AAV)-mediated delivery of donor template DNA with transcription ...
Cristina Chamorro, Angeles Mencía, David Almarza, Blanca Duarte, Hildegard Büning, Jessica Sallach, Ingrid Hausser, Marcela Del Río, Fernando Larcher, Rodolfo Murillas   +9 more
doaj   +1 more source