Results 21 to 30 of about 2,814 (184)

In epithelial cancers, aberrant COL17A1 promoter methylation predicts its misexpression and increased invasion [PDF]

Clinical Epigenetics, 2016
Metastasis is a leading cause of death among cancer patients. In the tumor microenvironment, altered levels of extracellular matrix proteins, such as collagens, can facilitate the first steps of cancer cell metastasis, including invasion into surrounding
Pulari U. Thangavelu, T. Krenács, E. Dray, Pascal H. G. Duijf   +3 more
semanticscholar   +8 more sources

Integrated Analysis of ECT2 and COL17A1 as Potential Biomarkers for Pancreatic Cancer

Disease Markers, 2022
Background Pancreatic cancer (PC) is a malignant tumor of the digestive tract. It presents with atypical clinical symptoms and lacks specific diagnostic indicators. This study is aimed at exploring the potential biomarkers of PC.
Wen-liang Huang, Shuwei Wu, Xiao Huang, Shan Zhou   +3 more
semanticscholar   +3 more sources

Epidermolysis Bullosa Classification and Current Approach to Diagnosis. [PDF]

Pediatr Dermatol
ABSTRACT Epidermolysis bullosa (EB) is a heterogeneous group of rare genodermatoses marked by skin fragility and bullae formation induced by minor trauma. Pathologic variants in at least 21 genes are associated with EB, grouped into four major subtypes based predominantly on the plane of cleavage within the skin.
Mumber HE, Perman MJ.
europepmc   +2 more sources

Dystrophia Smolandiensis is characterized by a novel NQO1 variant and a distinct phenotype from COL17A1-associated epithelial recurrent erosion dystrophy.

Acta Ophthalmologica, EarlyView.
PURPOSE To determine the molecular cause of the two epithelial recurrent erosion dystrophies, Dystrophia Smolandiensis and Dystrophia Helsinglandica, and to identify phenotypic differences between the two conditions.
Karl De Geer, K. Lagerstedt-Robinson, D. Nilsson, C. Söderhäll, B. Hammar, E. Björck   +5 more
semanticscholar   +2 more sources

COL17A1 germline variant p.Ser1029Ala and mucosal malignant melanoma: An autopsy study

Molecular and Clinical Oncology, 2021
Collagen type XVII α1 (COL17A1) encodes a hemidesmosomal protein at the epidermal-dermal junction and its variants are implicated in blistering skin diseases.
Da-Ke Tong, Masashi Tanaka, H. Eguchi, Yasushi Okazaki, M. Muramatsu, T. Arai   +5 more
semanticscholar   +4 more sources

Novel Homozygous and Compound Heterozygous COL17A1 Mutations Associated with Junctional Epidermolysis Bullosa [PDF]

Journal of Investigative Dermatology, 1998
Junctional epidermolysis bullosa is a heritable, heterogeneous blistering skin disease with mechanically induced dermal–epidermal separation, mild skin atrophy, nail dystrophy, and alopecia.
Owaribe, Katsushi, Hammami-Hauasli, Nadja, Trüeb, Ralph M., Fiedorowicz, Jan, Schäcke, Heike, Floeth, Michaela, Bruckner-Tuderman, Leena   +6 more
core   +4 more sources

Distinct responses of

Molecular Therapy: Nucleic Acids
Junctional epidermolysis bullosa (JEB) caused by COL17A1 pathogenic variants (JEB-C17) is characterized by skin fragility, chronic wounds, and an increased risk of squamous cell carcinoma.
Yan Tan, Haifa El Mabrouk, Rui Zhang, Sato Magassa, Cristina Has, Saliha Beyza Sayar   +5 more
doaj   +2 more sources

Senescent epithelial cells remodel the tumor microenvironment and drive early LUAD progression: a multiomics risk model and single-cell analysis [PDF]

Cellular and Molecular Life Sciences
Lung adenocarcinoma (LUAD) remains a major cause of cancer-related mortality, and there are currently few reliable biomarkers available for accurate prognosis and effective targeted therapy. Accumulating evidence demonstrates that senescent cells play an
Yujia Zhou, Chen Chen, Fengyi Zuo, Siqi Ding, Hui Wang, Xinyu Xu, Bin Zhu, Bangyu Wu, Chen Liu, Tianhao Yuan, Dawei Ma, Xing Huang   +11 more
doaj   +2 more sources

TGF-β1-mediated downregulation of L1CAM in pancreatic ductal adenocarcinoma drives upregulation of collagen 17A1 and MMP2, facilitating tumor invasiveness and metastasis [PDF]

Cell Death and Disease
The highly fibrotic microenvironment of pancreatic ductal adenocarcinoma (PDAC) poses significant challenges for effective treatment, particularly in drug delivery and tumor progression.
Donatella Delle Cave, Annalisa Di Domenico, Marco Fantuz, Marianna Ciotola, Maria Mangini, Silvia Buonaiuto, Brunella Corrado, Marco Corona, Federica Saracino, Gennaro Andolfi, Ilaria Di Biase, Antonio Cucciardi, Alessandro Carrer, Bruno Sainz, Teresa Pirozzi, Daniele Lo Re, Vincenza Colonna, Gabriella Minchiotti, Anna Chiara De Luca, Enza Lonardo   +19 more
doaj   +2 more sources

In vivo CRISPR screening in head and neck cancer reveals Uchl5 as an immunotherapy target [PDF]

Nature Communications
Recurrent/metastatic head and neck squamous cell carcinoma (HNSCC) is an aggressive malignancy with a significant unmet need for enhancing immunotherapy response given current modest efficacy.
Cong Fu, Robert Saddawi-Konefka, Jordan M. Chinai, Sarah Y. Kim, Ashwin V. Kammula, Jonathan J. Perera, Aiping Jiang, Payal Tiwari, Erin N. Kistler, Shiqi Tang, Sarah M. Luna, Kayla J. Colvin, Juan Dubrot, Seth Anderson, Rachel A. Fetterman, Cun Lan Chuong, Sarah K. Lane-Reticker, Collins K. Cheruiyot, Audrey J. Muscato, Zahra Alipour, Douglas R. Adkins, Gabriel K. Griffin, Bradley E. Bernstein, Ann Marie Egloff, Kathleen B. Yates, Rebecca D. Chernock, J. Silvio Gutkind, Ravindra Uppaluri, Robert T. Manguso   +28 more
doaj   +2 more sources