Results 171 to 180 of about 2,814 (184)

A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa

Journal of Dermatological Science, 2002
We describe a Chinese family with generalized atrophic benign epidermolysis bullosa (GABEB), a non-lethal variant of junctional epidermolysis bullosa. The proband was an offspring of consanguineous parents, had generalized blisters since birth and developed severe alopecia during early childhood.
Yan, Wu, Guanqun, Li, Xuejun, Zhu
openaire   +2 more sources

Col17a1 is a syncytial trophoblast extracellular specific marker significantly elevated in preeclampsia

2018
Human pregnancy is a sterile inflammatory state to which placenta derived soluble factors and syncytial trophoblast extracellular vesicles (STBEVs) contribute. STBEVs numbers have been shown to increase in early-onset preeclampsia (EoPE) but their molecular signatures are incompletely characterised.
Zhang, W, Collett, G, Cribbs, A, Tannetta, D, Dragovic, R, Cerdeira, S, Sargent, I, Redman, C, Vatish, M   +8 more
openaire   +1 more source

P2.14A.12 Unveiling COL17A1 as a Novel Cell Surface Target in Thymic Epithelial Tumors: A Target Discovery Pipeline Approach

Journal of Thoracic Oncology
F. Ardeshir Larijani, F. Perna, H. Mesa, V. A. DeBrock, T. Augustine, L. A. Baldrige, E. Liu, T. Hou, A. Cesarano, H. Gao, Y. Liu, F. Fang, P. Christopher, R. Maniar, T. S. Johnson, D. Chatterjee, P. Loehrer   +16 more
semanticscholar   +1 more source

Genotypic and Phenotypic Analysis of 34 Cases of Inherited Junctional Epidermolysis Bullosa caused by COL17A1 Mutations.

British Journal of Dermatology, 2020
A. Charlesworth, A. Hérissé, N. Bellon, S. Leclerc-Mercier, E. Bourrat, S. Hadj-Rabia, C. Bodemer, J. Lacour, C. Chiaverini   +8 more
semanticscholar   +1 more source

Identification of a Novel COL17A1 Compound Heterozygous Mutation in a Chinese Girl with Non-Herlitz Junctional Epidermolysis Bullosa

Current Medical Science, 2020
Yanwei Yao, Yong Zhang, Xiao-hui Xie, Lan Chen, Feng Zhu, Min Zhou   +5 more
semanticscholar   +1 more source

Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED)

Human Mutation, 2015
Alison Hardcastle, Patrik Ryden, Ludvig Backman   +2 more
exaly  

Altering the splice pattern of COL17A1 with antisense oligonucleotides

2017
openaire   +1 more source

Genetic variation in COL17A1 and the development of bullous pemphigoid

Experimental Dermatology, 2004
Sara E Marshall, Mike Bunce, Fenella Wojnarowska   +2 more
exaly  

Case of non‐Herlitz junctional epidermolysis bullosa with COL17A1 mutation

The Journal of Dermatology, 2015
Hiroko Kasai, Takashi Sasaki, Hitomi Matsuzaki, Toshiro Yoshioka, Keisuke Nagao, Masayuki Amagai, Akira Ishiko, Akiharu Kubo   +7 more
openaire   +1 more source

International Journal of Molecular Medicine

International Journal of Molecular Medicine, 2006
Maki Gotō
exaly