Results 71 to 80 of about 2,814 (184)

Seven naturally variant loci serve as genetic modifiers of Lamc2jeb induced non-Herlitz junctional Epidermolysis Bullosa in mice.

PLoS ONE, 2023
Epidermolysis Bullosa (EB) is a group of rare genetic disorders that compromise the structural integrity of the skin such that blisters and subsequent erosions occur after minor trauma. While primary genetic risk of all subforms of EB adhere to Mendelian
Thomas J Sproule, Vivek M Philip, Nabig A Chaudhry, Derry C Roopenian, John P Sundberg   +4 more
doaj   +1 more source

Increased Genetic Instability in Exfoliated Oral Cells in Patients With Epidermolysis Bullosa

Oral Diseases, EarlyView.
ABSTRACT Objective To analyze the nuclear abnormalities of cytotoxicity—karyorrhexis (KR), karyolysis (KL), and pyknosis (PN)—and genotoxicity—micronucleus (MN) in exfoliated cells from different sites of the oral mucosa in patients with Epidermolysis Bullosa (EB) and a control group.
Ana Carolina Sias Franco Franzosi, Rebeca Ferreira Badaró, Lucas Fernandes Leal, Rosalie Matuk Fuentes Torrelio, Willian Grassi Bautz, Leticia Nogueira da Gama‐de‐Souza   +5 more
wiley   +1 more source

High Expression of COL17A1 Predicts Poor Prognosis and Promotes the Tumor Progression via NF-κB Pathway in Pancreatic Adenocarcinoma

Journal of Oncology, 2020
COL17A1 (collagen type XVII alpha 1 chain) is known to be upregulated and has a prognostic role in many malignancies, as well as contributing to cell proliferation, apoptosis, and invasion.
Feiyu Mao, Duguang Li, Zechang Xin, Yan Du, Xiao-Dong Wang, Peng Xu, Zhen-Nan Li, Jian-Jun Qian, Jie Yao   +8 more
semanticscholar   +1 more source

SINE Insertion in LAMA3 in Dogs With Junctional Epidermolysis Bullosa

Animal Genetics, Volume 57, Issue 5, October 2026.
ABSTRACT Junctional epidermolysis bullosa (JEB) is a hereditary skin disorder caused by defects in proteins responsible for dermal‐epidermal adhesion. We investigated the genetic cause of JEB in three related mixed‐breed puppies presenting with congenital skin blistering and ulceration. Whole‐genome sequencing of one affected dog followed by comparison
Sarah Kiener, Ronnie Kaufmann, Ori Brenner, Vidhya Jagannathan, Tosso Leeb   +4 more
wiley   +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

Enhanced PI3K signaling in Col17a1^−/− keratinocytes.

, 2014
A, Keratinocytes derived from wild type (Ctrl) and Col17a1−/− mice were lysed and equal amounts of total protein were immunoblotted with phospho-Akt and total Akt antibodies.
Claus-Werner Franzke (185138), Kaisa Tasanen (520735), Tiina Hurskainen (520731), Oliver Schilling (520734), Stefanie Löffek (520730), Florian Christoph Sigloch (520733), Joanna Jackow (520732), Leena Bruckner-Tuderman (185147)   +7 more
core   +1 more source

Collagen XVII Processing and Blistering Skin Diseases

Acta Dermato-Venereologica, 2020
Collagen XVII (COL17) is a hemidesmosomal transmembrane protein in the skin, which, in several autoimmune blistering skin diseases, may be targeted by autoantibodies.
Wataru Nishie
doaj   +1 more source

Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum.

PLoS ONE, 2023
The Lamc2jeb junctional epidermolysis bullosa (EB) mouse model has been used to demonstrate that significant genetic modification of EB symptoms is possible, identifying as modifiers Col17a1 and six other quantitative trait loci, several with strong ...
Thomas J Sproule, Robert Y Wilpan, John J Wilson, Benjamin E Low, Yudai Kabata, Tatsuo Ushiki, Riichiro Abe, Michael V Wiles, Derry C Roopenian, John P Sundberg   +9 more
doaj   +1 more source

Traditional Chinese Medicine Formulas in Delaying Aging: From Theoretical Foundations to Molecular Mechanisms and Translational Perspectives

Journal of Cellular and Molecular Medicine, Volume 30, Issue 19, October 2026.
ABSTRACT Aging is a systemic decline in physiological integrity, driving chronic diseases such as neurodegeneration, cardiovascular disorders, and metabolic syndromes. Rapid global population aging urgently demands effective interventions. Traditional Chinese medicine (TCM) formulas, characterized by multi‐component, multi‐target, and multi‐pathway ...
Chenrong Jin, Ding Du, Xiaorui Yu, Xiaoyan Ji, Xiuyun Zhang, Anning Li, Shuang Zu, Bo Qu, Daqing Zhao, Dianpeng Wu, Meichen Liu   +10 more
wiley   +1 more source

Enhanced spreading and actin dynamics in Col17a1^−/− keratinocytes.

, 2014
A, Keratinocytes derived from wild type (Ctrl) and Col17a1−/− mice were grown on LN332 coated chamber slides for 30 minutes, fixed and processed for indirect immunofluorescence staining with an actin antibody. The insert represents one enlarged Col17a1−/−
Claus-Werner Franzke (185138), Kaisa Tasanen (520735), Tiina Hurskainen (520731), Oliver Schilling (520734), Stefanie Löffek (520730), Florian Christoph Sigloch (520733), Joanna Jackow (520732), Leena Bruckner-Tuderman (185147)   +7 more
core   +1 more source