1 |
A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions. Ophthalmology. 2016 Apr;123(4):709-22. doi: 10.1016/j.ophtha.2015.12.008. Epub 2016 Jan 16.
|
2 |
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
|
3 |
A Cross-Sectional Study Comparing the Prevalence of Bullous Pemphigoid Autoantibodies in 275 Cases of Type II Diabetes Mellitus Treated With or Without Dipeptidyl Peptidase-IV Inhibitors.Front Immunol. 2019 Jun 26;10:1439. doi: 10.3389/fimmu.2019.01439. eCollection 2019.
|
4 |
Aberrant expression of a hemidesmosomal protein, bullous pemphigoid antigen 2, in human squamous cell carcinoma.Lab Invest. 1996 Oct;75(4):589-600.
|
5 |
Distribution of basement membrane anchoring molecules in normal and transformed endometrium: altered expression of laminin gamma2 chain and collagen type XVII in endometrial adenocarcinomas.J Mol Histol. 2004 Nov;35(8-9):715-22. doi: 10.1007/s10735-004-1051-y.
|
6 |
Bullous pemphigoid: What's ahead?.J Dermatol. 2016 Mar;43(3):237-40. doi: 10.1111/1346-8138.13207. Epub 2015 Nov 25.
|
7 |
BP180 Autoantibodies Target Different Epitopes in Multiple Sclerosis or Alzheimer's Disease than in Bullous Pemphigoid.J Invest Dermatol. 2019 Feb;139(2):293-299. doi: 10.1016/j.jid.2018.09.010. Epub 2018 Oct 10.
|
8 |
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.J Med Genet. 2016 Feb;53(2):98-110. doi: 10.1136/jmedgenet-2015-103302. Epub 2015 Oct 26.
|
9 |
Expression of anti-aging type-XVII collagen (COL17A1/BP180) in hair follicle-associated pluripotent (HAP) stem cells during differentiation.Tissue Cell. 2019 Aug;59:33-38. doi: 10.1016/j.tice.2019.06.001. Epub 2019 Jun 21.
|
10 |
Immunoglobulin E-Mediated Autoimmunity.Front Immunol. 2018 Apr 9;9:689. doi: 10.3389/fimmu.2018.00689. eCollection 2018.
|
11 |
Clinical and genetic update of corneal dystrophies.Exp Eye Res. 2019 Sep;186:107715. doi: 10.1016/j.exer.2019.107715. Epub 2019 Jul 10.
|
12 |
A role for anti-BP180 autoantibodies in chronic rhinosinusitis.Laryngoscope. 2013 Sep;123(9):2104-11. doi: 10.1002/lary.24016.
|
13 |
Bullous pemphigoid complicated by cytomegalovirus disease as a manifestation of immune reconstitution inflammatory syndrome: retrospective analyses of our institutional cases and literature review.Int J Dermatol. 2018 Feb;57(2):202-208. doi: 10.1111/ijd.13799. Epub 2017 Dec 2.
|
14 |
The Autoimmune Skin Disease Bullous Pemphigoid: The Role of Mast Cells in Autoantibody-Induced Tissue Injury.Front Immunol. 2018 Mar 1;9:407. doi: 10.3389/fimmu.2018.00407. eCollection 2018.
|
15 |
Basement membrane zone IgE deposition is associated with bullous pemphigoid disease severity and treatment results.Br J Dermatol. 2020 May;182(5):1221-1227. doi: 10.1111/bjd.18364. Epub 2019 Oct 16.
|
16 |
Identification of six polymorphisms as novel susceptibility loci for ischemic or hemorrhagic stroke by exome-wide association studies.Int J Mol Med. 2017 Jun;39(6):1477-1491. doi: 10.3892/ijmm.2017.2972. Epub 2017 May 3.
|
17 |
Successful allogeneic stem cell transplantation with a reduced-intensity conditioning in a leukocyte adhesion deficiency type I patient.Pediatr Transplant. 2011 Mar;15(2):E30-3. doi: 10.1111/j.1399-3046.2009.01239.x.
|
18 |
Characterization of single amino acid substitutions in the 2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1.Blood Cells Mol Dis. 2015 Feb;54(2):177-82. doi: 10.1016/j.bcmd.2014.11.005. Epub 2014 Nov 28.
|
19 |
CD18 deficiency evolving to megakaryocytic (M7) acute myeloid leukemia: case report.Blood Cells Mol Dis. 2014 Dec;53(4):180-4. doi: 10.1016/j.bcmd.2014.07.005. Epub 2014 Aug 5.
|
20 |
Epithelial antigenic specificities of circulating autoantibodies in mucosal lichen planus.Int J Dermatol. 2016 Jun;55(6):634-9. doi: 10.1111/ijd.12990. Epub 2015 Nov 13.
|
21 |
Expression of collagen XVII and ubiquitin-binding protein p62 in motor neuron disease.Brain Res. 2009 Jan 9;1247:171-7. doi: 10.1016/j.brainres.2008.10.020. Epub 2008 Nov 1.
|
22 |
BP180-specific IgG is associated with skin adverse events, therapy response, and overall survival in non-small cell lung cancer patients treated with checkpoint inhibitors.J Am Acad Dermatol. 2020 Apr;82(4):854-861. doi: 10.1016/j.jaad.2019.08.045. Epub 2019 Aug 23.
|
23 |
Neurological and psychiatric associations in bullous pemphigoid-more than skin deep?.Exp Dermatol. 2017 Dec;26(12):1228-1234. doi: 10.1111/exd.13401. Epub 2017 Sep 24.
|
24 |
Validation of chemiluminescent enzyme immunoassay in detection of autoantibodies in pemphigus and pemphigoid.J Dermatol Sci. 2017 Mar;85(3):208-215. doi: 10.1016/j.jdermsci.2016.12.007. Epub 2016 Dec 6.
|
25 |
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.Am J Hum Genet. 2012 Oct 5;91(4):721-8. doi: 10.1016/j.ajhg.2012.08.010. Epub 2012 Sep 20.
|
26 |
Checkpoint Inhibition May Trigger the Rare Variant of Anti-LAD-1 IgG-Positive, Anti-BP180 NC16A IgG-Negative Bullous Pemphigoid.Front Immunol. 2019 Aug 14;10:1934. doi: 10.3389/fimmu.2019.01934. eCollection 2019.
|
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Anti-BP180 Autoantibodies Are Present in Stroke and Recognize Human Cutaneous BP180 and BP180-NC16A.Front Immunol. 2019 Feb 26;10:236. doi: 10.3389/fimmu.2019.00236. eCollection 2019.
|
28 |
Prevalence of Skin-specific Autoantibodies in HIV-infected Patients and Uninfected Controls.Acta Derm Venereol. 2019 Oct 1;99(11):978-983. doi: 10.2340/00015555-3251.
|
29 |
Gliptin-Associated Bullous Pemphigoid: A Valuable Model of the Mechanism of Breakdown of Immune Tolerance against BP180.J Invest Dermatol. 2019 Apr;139(4):755-756. doi: 10.1016/j.jid.2018.11.025.
|
30 |
Collagen XVII/BP180 protein expression in squamous cell carcinoma of the skin detected with novel monoclonal antibodies in archived tissues using tissue microarrays and digital microscopy.Appl Immunohistochem Mol Morphol. 2008 Oct;16(5):433-41. doi: 10.1097/PAI.0b013e318162f8aa.
|
31 |
Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen.Br J Dermatol. 2004 Sep;151(3):669-74. doi: 10.1111/j.1365-2133.2004.06041.x.
|
32 |
A PTEN-COL17A1 fusion gene and its novel regulatory role in Collagen XVII expression and GBM malignance.Oncotarget. 2017 Aug 24;8(49):85794-85803. doi: 10.18632/oncotarget.20526. eCollection 2017 Oct 17.
|
33 |
Downregulation of hemidesmosomal proteins in nasopharyngeal carcinoma cells.Cancer Lett. 2001 Feb 10;163(1):117-23. doi: 10.1016/s0304-3835(00)00683-2.
|
34 |
Key genes associated with pancreatic cancer and their association with outcomes: A bioinformatics analysis.Mol Med Rep. 2019 Aug;20(2):1343-1352. doi: 10.3892/mmr.2019.10321. Epub 2019 Jun 3.
|
35 |
Junctional Epidermolysis Bullosa. 2008 Feb 22 [updated 2018 Dec 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
|
36 |
Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
|
37 |
Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta.Int J Mol Med. 2006 Aug;18(2):333-7.
|
38 |
The dysfunction of BP180/collagen XVII in keratinocytes promotes melanoma progression.Oncogene. 2019 Dec;38(50):7491-7503. doi: 10.1038/s41388-019-0961-9. Epub 2019 Aug 21.
|
39 |
Retinoic acid and its 4-oxo metabolites are functionally active in human skin cells in vitro. J Invest Dermatol. 2005 Jul;125(1):143-53.
|
40 |
Activation of AIFM2 enhances apoptosis of human lung cancer cells undergoing toxicological stress. Toxicol Lett. 2016 Sep 6;258:227-236.
|
41 |
Prenatal arsenic exposure and the epigenome: identifying sites of 5-methylcytosine alterations that predict functional changes in gene expression in newborn cord blood and subsequent birth outcomes. Toxicol Sci. 2015 Jan;143(1):97-106. doi: 10.1093/toxsci/kfu210. Epub 2014 Oct 10.
|
42 |
Temozolomide induces activation of Wnt/-catenin signaling in glioma cells via PI3K/Akt pathway: implications in glioma therapy. Cell Biol Toxicol. 2020 Jun;36(3):273-278. doi: 10.1007/s10565-019-09502-7. Epub 2019 Nov 22.
|
43 |
Identification of vitamin D3 target genes in human breast cancer tissue. J Steroid Biochem Mol Biol. 2016 Nov;164:90-97.
|
44 |
Characterization of DOK1, a candidate tumor suppressor gene, in epithelial ovarian cancer. Mol Oncol. 2011 Oct;5(5):438-53. doi: 10.1016/j.molonc.2011.07.003. Epub 2011 Jul 26.
|
45 |
Myosin-mediated cytoskeleton contraction and Rho GTPases regulate laminin-5 matrix assembly. Cell Motil Cytoskeleton. 2004 Feb;57(2):107-17. doi: 10.1002/cm.10161.
|
46 |
Identification of a transcriptomic signature of food-relevant genotoxins in human HepaRG hepatocarcinoma cells. Food Chem Toxicol. 2020 Jun;140:111297. doi: 10.1016/j.fct.2020.111297. Epub 2020 Mar 28.
|
47 |
CCAT1 is an enhancer-templated RNA that predicts BET sensitivity in colorectal cancer. J Clin Invest. 2016 Feb;126(2):639-52.
|
48 |
Transcriptomic analysis of human primary bronchial epithelial cells after chloropicrin treatment. Chem Res Toxicol. 2015 Oct 19;28(10):1926-35.
|
49 |
Toxicogenomics of kojic acid on gene expression profiling of a375 human malignant melanoma cells. Biol Pharm Bull. 2006 Apr;29(4):655-69.
|
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|
|
|
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