Results 51 to 60 of about 2,814 (184)

Genetic variation in COL17A1 and the development of bullous pemphigoid

Experimental Dermatology, 2004
Background:  Bullous pemphigoid (BP) is an autoimmune blistering disease of the skin characterized by autoantibody attack on collagen XVII.Objectives:  To characterize the genetic complexity of COL17A1, the gene which encodes for the autoantigen collagen XVII.
Winsey, S., Lonie, L., Allen, J., Bunce, M., Marshall, S.E., Wojnarowska, F.   +5 more
openaire   +2 more sources

scRNA-seq of preeclamptic trophoblasts identifies EBI3, COL17A1, miR-27a-5p, and miR-193b-5p as hypoxia markers: validation of neuradapt as a superior mimetic to cobalt chloride. [PDF]

Placenta
BACKGROUND Preeclampsia (PE) complicates 2-8% of pregnancies and involves placental hypoxia and HIF-pathway activation, especially in early-onset PE (eoPE).
E. Knyazev, Timur Kulagin, Ivan D. Antipenko, Alexander Tonevitsky   +3 more
semanticscholar   +1 more source

Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report

Clinical Case Reports, 2023
Key Clinical Message The presence of more than one genetic/genomic disorder is not uncommon. It is therefore essential to continuously consider new signs and symptoms over time.
Maria Eugenia Amato, Silvia Ricart, Maria Asunción Vicente, Loreto Martorell, Judith Armstrong, Guerau Fernández Isern, José Manuel Mascaro, Sol Balsells, Itziar Alonso, Mercedes Serrano, Juan Darío Ortigoza‐Escobar   +10 more
doaj   +1 more source

Integrated Analysis Identifies Four Genes as Novel Diagnostic Biomarkers Which Correlate with Immune Infiltration in Preeclampsia

Journal of Immunology Research, 2022
Preeclampsia remains a high cause of incidence and death for mothers and fetuses in developing nations. Preeclampsia has numerous clinical and biochemical markers that have been tested, but they have failed to provide a conclusive diagnosis in the ...
Mu-yi Yang, Ming-hui Ji, Tian Shen, Lei Lei   +3 more
doaj   +1 more source

Direct comparisons of B6 and MRL Col17a1 congenics on FVB background.

, 2023
(A) Tail tension test at 20 weeks of age. (B-C) Average ear and tail scores from 0 ‘not affected’ to 6 ‘very affected’ for mice scored weekly. (D) Cumulative censored survival data.
Thomas J. Sproule (16535011), Vivek M. Philip (264868), Nabig A. Chaudhry (16535014), Derry C. Roopenian (14879414), John P. Sundberg (7251050)   +4 more
core   +1 more source

Natural Gene Therapy May Occur in All Patients with Generalized Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 Mutations [PDF]

, 2012
Mutations in the type XVII collagen gene (COL17A1) result in the blistering disorder non-Herlitz junctional epidermolysis bullosa (JEB-nH). The incidence of revertant mosaicism, also called “natural gene therapy”, was identified in a cohort of 14 ...
Pasmooij, Anna M.G., Jonkman, Marcel F., Brander, Renske, Nijenhuis, Miranda   +3 more
core   +2 more sources

Transmembrane collagen XVII modulates integrin dependent keratinocyte migration via PI3K/Rac1 signaling.

PLoS ONE, 2014
The hemidesmosomal transmembrane component collagen XVII (ColXVII) plays an important role in the anchorage of the epidermis to the underlying basement membrane.
Stefanie Löffek, Tiina Hurskainen, Joanna Jackow, Florian Christoph Sigloch, Oliver Schilling, Kaisa Tasanen, Leena Bruckner-Tuderman, Claus-Werner Franzke   +7 more
doaj   +1 more source

Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta

International Journal of Molecular Medicine, 2006
Non-Herlitz junctional epidermolysis bullosa (nH-JEB) disease manifests with skin blistering, atrophy and tooth enamel hypoplasia. The majority of patients with nH-JEB harbor mutations in COL17A1, the gene encoding type XVII collagen. Heterozygotes with a single COL17A1 mutation, nH-JEB defect carriers, may exhibit only enamel hypoplasia. In this study,
Hiroyuki, Nakamura, Daisuke, Sawamura, Maki, Goto, Hideki, Nakamura, Miyuki, Kida, Tadashi, Ariga, Yukio, Sakiyama, Koki, Tomizawa, Hiroshi, Mitsui, Kunihiko, Tamaki, Hiroshi, Shimizu   +10 more
openaire   +3 more sources

Identification of Key Immune-Related Genes in the Treatment of Heart Failure After Myocardial Infarction with Empagliflozin Based on RNA-Seq

Journal of Inflammation Research, 2023
Pei Zhang,1,* Tian-Yu Wang,2,* Zi-Yue Luo,2 Jun-Can Ding,2 Qiang Yang,2 Peng-Fei Hu3 1Department of Cardiology, Sir Run Run Shaw Hospital, College of Medicine Zhejiang University, Hangzhou, Zhejiang Province, 310018, People’s Republic of China ...
Zhang P, Wang TY, Luo ZY, Ding JC, Yang Q, Hu PF   +5 more
doaj  

Single‐Nucleus Transcriptomic Atlas of Human Vellus Hair Pilosebaceous Units Reveals Age‐Associated Remodeling

Advanced Science, EarlyView.
Human vellus pilosebaceous units (PSUs) remain uncharted. This single‐nucleus atlas reveals coordinated remodeling of the aging PSU niche: reduced bulge stem cell representation with altered regenerative programs, increased representation of a stress‐responsive channel+ epithelial state, enhanced androgen‐responsive sebaceous programs, reduced ...
Ya'nan Li, Zhuoqiong Qiu, Xiaoyu Pan, Geyang Xu, Shanshan Peng, Ronghui Zhu, Qiuyang Luo, Xiaokai Fang, Xu Yao, Wei Li   +9 more
wiley   +1 more source