Results 71 to 80 of about 4,117 (196)

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

TNFSF14/LIGHT responses in intestinal and oesophageal fibroblasts are differentially modulated by hydroxylase inhibitors

The Journal of Physiology, EarlyView.
Abstract figure legend LIGHT is a mutual mediator of intestinal and oesophageal fibroblast inflammation with common as well as tissue‐specific effects. Hydroxylase inhibitors can selectively suppress inflammatory factors in both cell types, albeit targeting different signalling pathways.
Cian M. Ohlendieck, Carlos Matellan, Cristina Bauset, Bella Raphael, Mary Nwaezeigwe, Emer Flynn, Kevin Okamoto, Desmond Winter, Colm Collins, Katie Doogan, Seán T. Martin, Glen Doherty, Seema S. Aceves, Mario C. Manresa   +13 more
wiley   +1 more source

Trophoblast Extracellular Vesicles Rewire Immunity: A Symptom‐Relief Avenue for Recessive Dystrophic Epidermolysis Bullosa

Journal of Extracellular Vesicles, Volume 15, Issue 10, October 2026.
First‐trimester trophoblast EVs are enriched in anti‐inflammatory proteins, lipids, and immunoregulatory miRNAs. EVT‐EVs reprogram monocytes toward a pro‐resolving phenotype and restore immune homeostasis in RDEB, supporting their potential as offering a scalable off‐the‐shelf therapy for chronic inflammatory diseases.
Nell Hirt, Enzo Manchon, Ming Wu, Helene Le Buanec, Pauline Bataille, Emmanuelle Bourrat, Jean‐David Bouaziz, Nabila Jabrane‐Ferrat, Reem Al‐Daccak   +8 more
wiley   +1 more source

164 CRISPR/Cas9-mediated gene repair in the COL7A1 gene [PDF]

Journal of Investigative Dermatology, 2016
164 CRISPR/Cas9-mediated gene repair in the COL7A1 gene S Hainzl, T Kocher, EM Murauer, F Larcher, M Steiner, JW Bauer, J Reichelt and U Koller 1 EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology, University Hospital of the Paracelsus Medical University, Salzburg, Austria, 2 Department of Dermatology,
S. Hainzl, T. Kocher, E.M. Murauer, F. Larcher, M. Steiner, J.W. Bauer, J. Reichelt, U. Koller   +7 more
openaire   +1 more source

COL7A1 gene in sheep horn

Variation information of the sheep COL7A1 gene from public and self-generated ...
zhang, shiwen
core   +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

mRNA Therapeutics for Skin Rejuvenation: From Aging Atlases to Clinical Translation

Experimental Dermatology, Volume 35, Issue 10, October 2026.
ABSTRACT Skin aging is a multifactorial process characterized by the progressive decline of tissue structure, function and regenerative capacity. Although numerous interventions have been developed to improve the clinical manifestations of aging, most primarily alleviate downstream consequences rather than directly targeting the molecular mechanisms ...
Fabiana Boncimino, Stefano Sol, Kristina Todorova, Anna Mandinova   +3 more
wiley   +1 more source

Mild recessive dystrophicepidermolysis bullosa associated with two compound heterozygous COL7A1 mutations

, 2011
Dystrophic epidermolysis bullosa is a group of inherited skin blistering disorders caused by mutations in the COL7A1 gene coding for type VII collagen.
von Bartenwerffer, Wibke, Kreuter, Alexander, Hoffmann, Michael, Bruckner-Tuderman, Leena, Hartmann, Karin, Has, Cristina, Arin, Meral J., Kremer, Kim, Kohlhase, Jürgen, Krieg, Thomas, Eming, Sabine A., Tantcheva-Poór, Iliana, Arshah, Tarek   +12 more
core   +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

Clinical Efficacy and Mechanisms of ZiyuShuang, an Anti‐Skin Aging Formula Identified Through Network Medicine Framework Analysis

Journal of Cosmetic Dermatology, Volume 25, Issue 10, October 2026.
ABSTRACT Background Skin aging, a key aspect of physiological decline, markedly affects appearance, making strategies to delay it vital for quality of life. Materials and Methods We applied network medicine analysis to screen herbal medicines from the TCMSP database, yielding an anti‐skin aging formula, ZiYuShuang (ZYS).
Yingpeng Tong, Xiangmei Ni, Xinnan Jiang, Ru Zhang, Pengcheng Guo, Chunbo Feng, Jianxin Wang   +6 more
wiley   +1 more source