Results 1 to 10 of about 3,301 (130)

Gene Therapy for Dystrophic Epidermolysis Bullosa. [PDF]

Exp Dermatol
ABSTRACT Dystrophic epidermolysis bullosa (DEB) is a rare, debilitating genodermatosis caused by loss‐of‐function variants in COL7A1, resulting in type VII collagen (C7) deficiency and defective anchoring fibrils, which are essential for dermal–epidermal adhesion.
Has C, Karakioulaki M.
europepmc   +2 more sources

Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells

Molecular Therapy - Nucleic Acids, 2018
Recessive dystrophic epidermolysis bullosa is a severe skin fragility disease caused by loss of functional type VII collagen at the dermal-epidermal junction. A frameshift mutation in exon 80 of COL7A1 gene, c.6527insC, is highly prevalent in the Spanish
Sara Llames, Rodolfo Murillas, María José Escámez   +2 more
exaly   +3 more sources

The COL7A1/PI3K/AKT axis regulates the progression of cholangiocarcinoma

Heliyon
Background: The role and molecular mechanisms of collagen type VII (COL7A1) in cholangiocarcinoma (CCA) remain unknown. Methods: We analyzed the expression of COL7A1 in CCA and its relationship with patient prognosis using bioinformatic techniques ...
Yang Ma, Yanfang Zhang, Fangfang Chen, Sihua Liu, Dongdong Wang, Zheng Lu, Dengyong Zhang, Rui Liang   +7 more
exaly   +3 more sources

Pathogenic Mechanisms of Collagen TypeⅦA1 (COL7A1) and Transporter Protein Transport and Golgi Organization 1 (TANGO1) in Rheumatoid Arthritis: A New Therapeutic Target

Immuno
Rheumatoid arthritis (RA) is an autoimmune disorder causing chronic inflammation primarily due to collagen regulation and transport imbalances. Collagen VII A1(COL7A1), a major component of anchoring fibrils, regulates inflammation via interacting with ...
Sagarika Biswas, Swati Malik, Lovely Joshi   +2 more
exaly   +3 more sources

Restoration of Hair Luster via Novel Biomarker COL7A1 by Minoxidil, Caffeine, and Biotin [PDF]

Current Issues in Molecular Biology
Hair luster, a key component of visual hair quality, depends largely on the integrity of the cuticle. While cosmetic products offer temporarily enhanced luster, their effects are limited due to a poor understanding of the underlying molecular mechanisms.
Ngoc Ha Nguyen, Young In Lee, Hyeon-Ah Do, Inhee Jung, Jae Hyun Park, Sung Jun Lee, Ju Hee Lee   +6 more
doaj   +2 more sources

Identification of Paraptosis-Related Renal Cell Carcinoma Subtypes, Construction of a Prognostic Signature, and Determination of Tumor Microenvironment Landscape Using Bioinformatic Analysis and Experimental Verification [PDF]

Current Issues in Molecular Biology
Renal cell carcinoma (RCC) is a common and deadly urological cancer, for which there are no robust prognostic biomarkers or personalized treatment strategies.
Mengyuan Qin, Meiting Chen, Yuling Gan, Xiangqian Feng, Ping Huang, Feifei Meng, Yufang Yang   +6 more
doaj   +2 more sources

Integration of bulk and single-cell transcriptomic data reveals a novel signature related to liver metastasis and basement membrane in pancreatic cancer [PDF]

Frontiers in Immunology
BackgroundPancreatic cancer (PC) is characterized by an exceptionally poor prognosis, primarily attributable to its aggressive metastatic behavior and high recurrence rates. Liver metastasis is the predominant distant metastasis model of PC.
Dongkai Zhou, Cheng Zhong, Qifan Yang, Bijun Cui, Bijun Cui, Yizhi Wang   +5 more
doaj   +2 more sources

MicroRNA strand ratio disarray promotes temozolomide resistance in glioblastoma [PDF]

Cellular & Molecular Biology Letters
Background Disarray in microRNA (miRNA) strand selection is associated with multiple tumors. However, the mechanisms underlying miRNA strand selection-driven temozolomide (TMZ) resistance in glioblastoma (GBM) remain unexplored. Approach and results Here,
Fangfang Shen, Pengfei Wu, Zelian Li, Minglong Yang, Zhuolun Li, Yunfeng Nan, Qinglin Yang, Yuanfei Wang, Xuedong Li, Ying Ye, Jinpeng Wang   +10 more
doaj   +2 more sources

COL7A1 indicates crucial potential as a basal membrane-related prognostic biomarker and therapeutic target in lung adenocarcinoma

Frontiers in Pharmacology
IntroductionLung adenocarcinoma (LUAD) is the most prevalent subtype of lung cancer. Basal membrane (BM) is important to the invasive processes of LUAD.
Ye Lv, Rui Zi, Yanjiao Zhao
exaly   +3 more sources

CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa [PDF]

Cell Journal, 2023
Objective: Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic skin fragility and ultimately lethal blisteringdisease caused by mutations in the COL7A1 gene which is responsible for coding type VII collagen.
Farzad Alipour, Mana Ahmadraji, Elham Yektadoost, Parvaneh Mohammadi, Hossein Baharvand, Mohsen Basiri   +5 more
doaj   +1 more source