Results 161 to 170 of about 2,814 (184)

A Homozygous Nonsense Mutation in Type XVII Collagen Gene (COL17A1) Uncovers an Alternatively Spliced mRNA Accounting for an Unusually Mild Form of Non-Herlitz Junctional Epidermolysis Bullosa [PDF]

Journal of Investigative Dermatology, 2001
In this study we describe six Italian patients presenting an unusually mild variant of non-Herlitz junctional epidermolysis bullosa associated with a reduced expression of type XVII collagen.
Biagio Didona, Hendri H. Pas, Giovanna Zambruno   +2 more
exaly   +3 more sources

Some of the next articles are maybe not open access.

Related searches:

Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1.

The British journal of dermatology, 2011
  Junctional epidermolysis bullosa of late onset (JEB-lo) is a rare disease characterized by blistering of primarily the hands and feet starting in childhood. The pathogenesis remains unclear.To clarify the pathogenesis of JEB-lo.Two patients with JEB-lo, a brother and a sister, were examined using electron microscopy (EM), immunofluorescence (IF ...
Yuen, W. Y., Pas, H. H., Sinke, R. J., Jonkman, M. F.   +3 more
openaire   +4 more sources

Genotypic and phenotypic analysis of 34 cases of inherited junctional epidermolysis bullosa caused by COL17A1 mutations

British Journal of Dermatology, 2021
Inherited epidermolysis bullosa (EB) defines a heterogeneous group of genodermatoses characterized by skin and/or mucosa fragility resulting in blistering.
A. Hérissé, A. Charlesworth, N. Bellon, S. Leclerc-Mercier, E. Bourrat, S. Hadj-Rabia, C. Bodemer, J. Lacour, C. Chiaverini   +8 more
semanticscholar   +1 more source

EBJ par mutations de COL17A1 : fragilité de la muqueuse trachéale

Annales de Dermatologie et de Vénéréologie - FMC, 2021
Introduction L’epidermolyse bulleuse jonctionnelle (EBJ) par mutations bi-alleliques du gene COL17A1 associe une fragilite de la peau et des muqueuses, des anomalies dentaires et ungueales. L’aplasie cutanee congenitale (ACC), l’insuffisance renale et la keratodermie palmo-plantaire ne sont pas rares.
A. Bozonnat, L. Polivka, R. Luscan, S. Leclerc-Mercier, F. Charbit-Henrion, C. Bodemer, A. Lapillonne, S. Hadj-Rabia   +7 more
semanticscholar   +2 more sources

Leveraging AI predictive models to develop thymic tumor–specific peptides mimicking COL17A1 alterations.

Journal of Clinical Oncology
e20138 Background: We recently identified COL17A1 protein as a novel target in thymic epithelial tumors (TETs). Here, we designed tumor-specific peptides to mimic mutation regions in COL17A1.
Fatemeh Ardeshir Larijani, Pouya Behrouzi, L. Galassi, Anamika B. Patel, Mahdi Muhaddesi, S. Badve, Y. Gokmen-Polar, Mohammadhadi Khorrami, H. Mesa, P. Loehrer, Dong M. Shin   +10 more
semanticscholar   +1 more source

Hair follicle aging is driven by transepidermal elimination of stem cells via COL17A1 proteolysis

Science, 2016
Quiescent and aging hair follicle stem cells Stem cells enable normal cell homeostasis, but they also exist in a quiescent state, ready to proliferate and differentiate after tissue damage. Now, two studies reveal features of stem cells in the hair follicle, an epithelial mini-organ of the skin that is responsible
H. Matsumura, Y. Mohri, N. Binh, Hironobu Morinaga, Makoto Fukuda, Mayumi Ito, S. Kurata, J. Hoeijmakers, E. Nishimura   +8 more
semanticscholar   +3 more sources

Caviar extract inhibits skin photoaging by activating skin stem cells through NF‐κB/MMPs/COL17A1 axis

Photochemistry and Photobiology
Ultraviolet radiations (UVR) produce harmful entities and reactive oxygen species (ROS) in skin cells, leading to skin photoaging. Caviar extract (CE) showed outstanding effects in delaying skin aging, but the underlying mechanism remains largely unknown.
You-Nan Kou, Wu-yan Guo, Yun Wang, Changhua Kou, Bo Zhang   +4 more
semanticscholar   +1 more source

[A case of Neonatal generalized atrophic benign epidermolysis bullosa due to variants of COL17A1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
To diagnose and explore the genetic etiology of a neonate with Hereditary epidermolysis bullosa.A neonate who was admitted to Suqian Hospital Affiliated to Xuzhou Medical University on July 10, 2021 was selected as the study subject. Peripheral blood samples were collected from the child and his parents for the extraction of genomic DNA.
Su-Yue Zhu, Ji-Bing Qiao, Nan Shen, Yong Zhou, Man Cen, Ya-Zhou Jiang   +5 more
semanticscholar   +3 more sources

Gentamicin induces COL17A1 nonsense mutation readthrough in junctional epidermolysis bullosa

Journal of dermatology (Print), 2020
1 Goletz S, Hashimoto T, Zillikens D, Schmidt E. Anti-p200 pemphigoid. J Am Acad Dermatol 2014; 71(1): 185–191. 2 Dainichi T, Kurono S, Ohyama B et al. Anti-laminin gamma-1 pemphigoid. Proc Natl Acad Sci U S A 2009; 106: 2800–2805. 3 Commin MH, Schmidt E,
Yue Li, Jin-Wen Shen, Jian-Ying Liang, Luyao Zheng, Fu-Ying Chen, Z. Yao, Ming Li   +6 more
semanticscholar   +1 more source

Expression of anti-aging type-XVII collagen (COL17A1/BP180) in hair follicle-associated pluripotent (HAP) stem cells during differentiation.

Tissue & Cell, 2019
Hair-follicle-associated pluripotent (HAP) stem cells reside in the upper part of the bulge area of the the hair follicle. HAP stem cells are nestin-positive and keratin 15-negative and have the capacity to differentiate into various types of cells in ...
K. Shirai, K. Obara, Natsuko Tohgi, Aiko Yamazaki, R. Aki, Y. Hamada, N. Arakawa, S. R. Singh, R. Hoffman, Y. Amoh   +9 more
semanticscholar   +1 more source