| Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry. | Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.
Turunen JA, Tuisku IS, Repo P, Mörtenhumer S, Kawan S, Järvinen RS, Korsbäck A, Immonen AT, Kivelä TT. | 04/16/2024 |
| Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. | Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U, Watson CM, Liu L, Smith CEL, Harfoush A, Poulter JA, Nikolopoulos G, Balmer R, Brown CJ, Patel A, Simmonds J, Charlton R, Acosta de Camargo MG, Rodd HD, Jafri H, Antanaviciute A, Moffat M, Al-Jawad M, Inglehearn CF, Mighell AJ., Free PMC Article | 03/25/2024 |
| Levels of type XVII collagen (BP180) ectodomain are elevated in circulation from patients with multiple cancer types and is prognostic for patients with metastatic colorectal cancer. | Levels of type XVII collagen (BP180) ectodomain are elevated in circulation from patients with multiple cancer types and is prognostic for patients with metastatic colorectal cancer.
Crespo-Bravo M, Thorlacius-Ussing J, Nissen NI, Pedersen RS, Boisen MK, Liljefors M, Johansen AZ, Johansen JS, Karsdal MA, Willumsen N., Free PMC Article | 10/10/2023 |
| What's new in the pathogeneses and triggering factors of bullous pemphigoid. | What's new in the pathogeneses and triggering factors of bullous pemphigoid.
Ujiie H., Free PMC Article | 02/13/2023 |
| Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa. | Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.
Bischof J, March OP, Liemberger B, Haas SA, Hainzl S, Petković I, Leb-Reichl V, Illmer J, Korotchenko E, Klausegger A, Hoog A, Binder HM, Garcia M, Duarte B, Strunk D, Larcher F, Reichelt J, Guttmann-Gruber C, Wally V, Hofbauer JP, Bauer JW, Cathomen T, Kocher T, Koller U., Free PMC Article | 08/13/2022 |
| Read-Through for Nonsense Mutations in Type XVII CollagenDeficient Junctional Epidermolysis Bullosa. | Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa.
Has C, Sayar SB, Zheng S, Chacón-Solano E, Condrat I, Yadav A, Roberge M, Larcher Laguzzi F. | 07/30/2022 |
| Integrated Analysis of ECT2 and COL17A1 as Potential Biomarkers for Pancreatic Cancer. | Integrated Analysis of ECT2 and COL17A1 as Potential Biomarkers for Pancreatic Cancer.
Huang WL, Wu SF, Huang X, Zhou S., Free PMC Article | 06/25/2022 |
| BP180/Collagen XVII: A Molecular View. | BP180/Collagen XVII: A Molecular View.
Tuusa J, Kokkonen N, Tasanen K., Free PMC Article | 12/18/2021 |
| EGFR-mediated epidermal stem cell motility drives skin regeneration through COL17A1 proteolysis. | EGFR-mediated epidermal stem cell motility drives skin regeneration through COL17A1 proteolysis.
Nanba D, Toki F, Asakawa K, Matsumura H, Shiraishi K, Sayama K, Matsuzaki K, Toki H, Nishimura EK., Free PMC Article | 12/11/2021 |
| Collagen XVII inhibits breast cancer cell proliferation and growth through deactivation of the AKT/mTOR signaling pathway. | Collagen XVII inhibits breast cancer cell proliferation and growth through deactivation of the AKT/mTOR signaling pathway.
Lothong M, Sakares W, Rojsitthisak P, Tanikawa C, Matsuda K, Yodsurang V., Free PMC Article | 11/6/2021 |
| COL17A1 gene polymorphisms are frequent in bullous pemphigoid. | COL17A1 gene polymorphisms are frequent in bullous pemphigoid.
Tabatabaei-Panah PS, Moravvej H, Alirajab M, Arghand F, Babaei H, Didehvar E, Hajmanouchehri S, Hosseine F, Karimi A, Mahdian M, Parvizi Moridani S, Sakhaie F, Ludwig RJ, Akbarzadeh R. | 09/11/2021 |
| Genotypic and phenotypic analysis of 34 cases of inherited junctional epidermolysis bullosa caused by COL17A1 mutations. | Genotypic and phenotypic analysis of 34 cases of inherited junctional epidermolysis bullosa caused by COL17A1 mutations.
Hérissé AL, Charlesworth A, Bellon N, Leclerc-Mercier S, Bourrat E, Hadj-Rabia S, Bodemer C, Lacour JP, Chiaverini C. | 07/10/2021 |
| Identification of a Novel COL17A1 Compound Heterozygous Mutation in a Chinese Girl with Non-Herlitz Junctional Epidermolysis Bullosa. | Identification of a Novel COL17A1 Compound Heterozygous Mutation in a Chinese Girl with Non-Herlitz Junctional Epidermolysis Bullosa.
Yao YY, Zhang Y, Xie XH, Chen L, Zhu F, Zhou M. | 06/12/2021 |
| Cell Fitness: More Than Push-Ups. | Cell Fitness: More Than Push-Ups.
Ferrari AJ, Drapkin R, Gogna R., Free PMC Article | 04/3/2021 |
| BP180 Is a Prognostic Factor in Head and Neck Squamous Cell Carcinoma. | BP180 Is a Prognostic Factor in Head and Neck Squamous Cell Carcinoma.
Meng X, Matsumoto F, Mori T, Miura N, Ino Y, Onidani K, Kobayashi K, Matsuzaki Y, Yoshimoto S, Ikeda K, Honda K. | 02/6/2021 |
| Anti-BP180 Autoantibodies Are Present in Stroke and Recognize Human Cutaneous BP180 and BP180-NC16A. | Anti-BP180 Autoantibodies Are Present in Stroke and Recognize Human Cutaneous BP180 and BP180-NC16A.
Wang Y, Mao X, Wang D, Hammers CM, Payne AS, Wang Y, Jin H, Peng B, Li L., Free PMC Article | 09/19/2020 |
| Life before and beyond blistering: The role of collagen XVII in epidermal physiology. | Life before and beyond blistering: The role of collagen XVII in epidermal physiology.
Natsuga K, Watanabe M, Nishie W, Shimizu H. | 09/12/2020 |
| Epitope analysis of 18 DPP4i-BP autoantibodies targeting the non-NC16A domains of BP180 showed that only one DPP4i-BP serum reacted with the epitopes on the intracellular domain of BP180. No sera reacted with the C-terminal domain. DPP4i-BP autoantibodies mainly target the non-NC16A mid-portion of the extracellular domain. Only IgG1 and IgG4 autoantibodies target the LABD97 extracellular domain. | Preferential Reactivity of Dipeptidyl Peptidase-IV Inhibitor-Associated Bullous Pemphigoid Autoantibodies to the Processed Extracellular Domains of BP180.
Mai Y, Nishie W, Izumi K, Shimizu H., Free PMC Article | 07/25/2020 |
| Data show that the pR1303Q substitution in the COL17A1 ectodomain showed decreased binding capability to laminin-332 and was less co-localized with pericellular laminin-332 molecules in cell culture. Thus, aberrant collagen XVII-laminin-332 interaction results in reduced cell adhesion, destabilized cell motility and decreased clonogenicity, which in turn lead to blister formation, delayed wound healing and skin atrophy. | Amino acid substitution in the C-terminal domain of collagen XVII reduces laminin-332 interaction causing mild skin fragility with atrophic scarring.
Kroeger J, Hoppe E, Galiger C, Has C, Franzke CW. | 12/7/2019 |
| Hypomorphic COL17A1 variant associated with mild to moderate junctional epidermolysis bullosa. | A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa.
Hoffmann J, Casetti F, Reimer A, Leppert J, Grüninger G, Has C. | 08/17/2019 |
| both mutations were homozygous and were predicted to result in the absence (EXPH5) or very low levels (COL17A1) of the corresponding protein products, with ultrastructural findings in the skin consistent with the presence of two subtypes, the simplex and the junctional forms, of the disease. | Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Jazayeri A, Guy A, Lovell PA, Liu L, Kariminejad A, McGrath JA, Zeinali S, Uitto J. | 08/17/2019 |
| Antibodies targeting the C-terminus of COL17 hindered its binding to COL4 in oral mucosal keratinocytes but not in epidermal keratinocytes. | The direct binding of collagen XVII and collagen IV is disrupted by pemphigoid autoantibodies.
Kamaguchi M, Iwata H, Nishie W, Toyonaga E, Ujiie H, Natsuga K, Kitagawa Y, Shimizu H. | 07/20/2019 |
| Suspension survival mediated by PP2A-STAT3-Col XVII determines tumor initiation and metastasis in cancer stem cells. | Suspension survival mediated by PP2A-STAT3-Col XVII determines tumour initiation and metastasis in cancer stem cells.
Liu CC, Lin SP, Hsu HS, Yang SH, Lin CH, Yang MH, Hung MC, Hung SC., Free PMC Article | 08/25/2018 |
| Bullous pemphigoid patients with the HLA-DQB1*03:01 allele show an increased T-cell avidity to several epitopes of BP180, particularly the BP180-NC16a domain. (Review) | A multi-hit hypothesis of bullous pemphigoid and associated neurological disease: Is HLA-DQB1*03:01, a potential link between immune privileged antigen exposure and epitope spreading?
Amber KT, Zikry J, Hertl M. | 06/9/2018 |
| C-terminal processing induces dynamic structural changes and neoepitopes for linear IgA dermatosis autoantibodies on COL17 | C-Terminal Processing of Collagen XVII Induces Neoepitopes for Linear IgA Dermatosis Autoantibodies.
Toyonaga E, Nishie W, Izumi K, Natsuga K, Ujiie H, Iwata H, Yamagami J, Hirako Y, Sawamura D, Fujimoto W, Shimizu H. | 12/9/2017 |