Abstract:
:Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy, focal non-epidermolytic palmoplantar keratoderma and variable features of oral leukokeratosis and follicular keratosis. Previously, we have shown that this disease can be caused by mutations in type I keratin K16 and one mutation has been reported in its type II keratin expression partner, K6a. Mutation analysis for K6a has been hampered by the presence of multiple copies of the K6 gene in the human genome, of which some are expressed and others are pseudogenes. Here, we describe a mutation detection strategy where the entire KRT6A gene, approximately 7 kb, is specifically amplified by long-range PCR. Using this technique, we have detected two novel mutations in the 1A domain of the K6a polypeptide, N171K and F174S. Mutations were confirmed in the affected individuals and were excluded from 50 unaffected unrelated individuals by restriction enzyme analysis of KRT6A PCR products. Additionally, mutation N171K was confirmed by RT-PCR in mRNA derived from lesional palmoplantar epidermis of an affected individual, confirming the specificity of the genomic PCR for the functional K6a gene. This, together with a similar strategy which we have developed for the K16 gene, provide a robust system for mutation detection and prenatal diagnosis for patients with PC-1.
journal_name
Exp Dermatoljournal_title
Experimental dermatologyauthors
Smith FJ,McKenna KE,Irvine AD,Bingham EA,Coleman CM,Uitto J,McLean WHdoi
10.1111/j.1600-0625.1999.tb00356.xsubject
Has Abstractpub_date
1999-04-01 00:00:00pages
109-14issue
2eissn
0906-6705issn
1600-0625journal_volume
8pub_type
杂志文章abstract::CD44 is a family of cell-surface receptors on human lymphocytes that act as co-stimulatory molecules leading to the induction of effector functions in T cells. We have analyzed primary cutaneous malignant melanomas with clinical and histologic signs of tumor regression using immunohistochemistry and observed the predo...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1034/j.1600-0625.2003.00044.x
更新日期:2003-04-01 00:00:00
abstract::White adipose tissue is known to be involved in numerous physiological processes such as insulin-mediated functions, lipid and glucose metabolism, vascular changes and coagulation. These processes are mainly mediated by adipokines that are secreted either from adipocytes or cells of the stromal-vascular fraction of ad...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2011.01402.x
更新日期:2012-01-01 00:00:00
abstract::Melanomas and nevi displaying regression features can be difficult to differentiate. To describe reflectance confocal microscopy features in benign and malignant pigmented skin lesions characterized by regression features in dermoscopy. Observational retrospective study. Inclusion criteria were presence of dermoscopic...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.13853
更新日期:2019-02-01 00:00:00
abstract::In this study, we investigated the process of X-ray-induced apoptosis of skin keratinocyte, and the functional role of protein kinase C delta (PKCdelta) and downstream signalling cascade. High-dose X-ray irradiation (10 Gy) led to the apoptosis of HaCaT keratinocyte, accompanied by PKCdelta cleavage. Treatment with PK...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2008.00761.x
更新日期:2009-01-01 00:00:00
abstract::A significant proportion of patients with skin disease do not respond to treatment and adverse drug reactions are a common problem. Genetic factors are important determinants for both drug efficacy and toxicity. The fields of pharmacogenetics and pharmacogenomics examine inter-individual variations in the DNA sequence...
journal_title:Experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0625.2009.00852.x
更新日期:2009-04-01 00:00:00
abstract::Corticotropin releasing factor, adrenocorticotropic hormone (ACTH) and alpha-melanocyte stimulating hormone either inhibit or enhance in a dose-dependent fashion an interleukin-4 (IL-4) driven human IgE synthesis in vitro. Here, we show that culture conditions strongly influence the earlier observed dose- and donor-de...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.1996.tb00091.x
更新日期:1996-02-01 00:00:00
abstract:BACKGROUND:This study investigated predictors of response to topical diphenylyclopropenone (DPCP) immunotherapy in patients with alopecia areata (AA). OBJECTIVE:To identify predictors of response, or resistance, to treatment for AA through clinical observations and serum tests. METHODS:Eighty four AA patients were tr...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.13758
更新日期:2020-03-01 00:00:00
abstract::Hypertrophic scarring is a skin disorder characterized by persistent inflammation and fibrosis that may occur after wounding or thermal injury. Altered production of cytokines and growth factors, such as TGF-beta, play an important role in this process. Activin A, a member of the TGF-beta family, shares the same intra...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2007.00571.x
更新日期:2007-07-01 00:00:00
abstract::It has been reported that the abnormal regulation of melanocyte stem cells (McSCs) causes hair greying; however, little is known about the role of McSCs in skin hyperpigmentation such as solar lentigines (SLs). To investigate the involvement of McSCs in SLs, the canonical Wnt signalling pathway that triggers the diffe...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.12496
更新日期:2014-09-01 00:00:00
abstract::Claudins (Cldn) are the major components of tight junctions (TJs) sealing the paracellular cleft in tissue barriers of various organs. Zebrafish Cldnb, the homolog of mammalian Cldn4, is expressed at epithelial cell-cell contacts and is important for regulating epidermal permeability. The bacterial toxin Clostridium p...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.12728
更新日期:2015-08-01 00:00:00
abstract::Pimecrolimus (SDZ ASM981) is a non-steroid member of calcineurin inhibitors recently developed for the treatment of inflammatory skin diseases. In this study, we compared the effect of pimecrolimus and corticosteroids on the differentiation, maturation and function of murine bone marrow-derived dendritic cells (BM-DC)...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.0906-6705.2005.00395.x
更新日期:2006-01-01 00:00:00
abstract::Detergents irritate skin and affect skin barrier homeostasis. In this study, healthy skin was exposed to 1% sodium lauryl sulphate (SLS) in water for 24 h. Biopsies were taken 6 h to 8 days post exposure. Lipid patterns were stained in situ and real-time polymerase chain reaction (PCR) was used to examine mRNA express...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2009.00877.x
更新日期:2009-12-01 00:00:00
abstract:BACKGROUND:Recently, germline variants of the melanocortin-1 receptor (MC1R) have been shown to be associated with an increased risk for BRAF mutant but not BRAF wild-type cutaneous melanoma. Similar to melanoma, BRAF mutations are also commonly found in papillary thyroid carcinomas. Furthermore, patients with melanoma...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2008.00827.x
更新日期:2009-06-01 00:00:00
abstract::CD44 and l-selectin (CD62L) are major adhesion receptors that mediate leucocyte recruitment at inflammatory sites and lymph nodes, by supporting cell rolling under blood flow. Both CD44 and CD62L have been implicated in inflammatory skin disorders, but their specific involvement in an immediate-type allergic reaction ...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.0906-6705.2005.00348.x
更新日期:2005-09-01 00:00:00
abstract::Primary hyperhidrosis is characterized by excessive sweating in palmar, plantar and axillary body regions. Gland hypertrophy and the existence of a third type of sweat gland, the apoeccrine gland, with high fluid transporting capabilities have been suggested as possible causes. This study investigated whether sweat gl...
journal_title:Experimental dermatology
pub_type: 信件
doi:10.1111/j.1600-0625.2011.01361.x
更新日期:2011-12-01 00:00:00
abstract::The primary trigger of polymorphic light eruption (PLE) remains to be uncovered. We hypothesize that PLE may be initiated by elements resulting from UV-induced damage to microbial communities of the skin, leading to a cascade of events eventually resulting in the skin rash of the disease. One mechanism by which epider...
journal_title:Experimental dermatology
pub_type: 信件
doi:10.1111/exd.13162
更新日期:2016-12-01 00:00:00
abstract::Murine model systems are critically required tools for the investigation of unknown mechanisms of melanoma development and metastasis and for developing more efficient therapies. The Tg(Grm1)EPv melanoma mouse model is characterized by spontaneous development of pigmented cutaneous melanomas at hairless skin regions, ...
journal_title:Experimental dermatology
pub_type: 信件
doi:10.1111/j.1600-0625.2012.01560.x
更新日期:2012-10-01 00:00:00
abstract::In the last decades melanoma incidence has been increasing worldwide, while mortality remained on a high level. Until now, there is no suitable therapy for metastasized melanoma, which could lead to a significant increase in overall survival. Apoptosis deficiency is supposed to be a critical factor for therapy resista...
journal_title:Experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0625.2007.00655.x
更新日期:2008-01-01 00:00:00
abstract::Melasma is a frequent pigmentary disorder caused by abnormal melanin deposits in the skin. In vivo reflectance confocal microscopy (RCM) is a repetitive imaging tool that provides real-time images of the skin at nearly histological resolution. As melanin is the strongest endogenous contrast in human skin, pigmentary d...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2009.01057.x
更新日期:2010-08-01 00:00:00
abstract::Pemphigus foliaceus (PF) is a severe autoimmune bullous disorder, characterized by autoantibodies (autoAb) against desmoglein 1 (Dsg1). As T cells may be critical in the pathology of PF, the aim of the present study was to identify and characterize autoaggressive T-helper cells reactive to Dsg1 in PF patients and heal...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.0906-6705.2005.00329.x
更新日期:2005-08-01 00:00:00
abstract::Opioids exert major effects not only in the central nervous system but also in immune responses. We investigated the effects of μ-opioid peptides, secreted by tumor cells, on anti-tumor immune responses. For this purpose, tumor growth was studied in wild-type and μ-opioid receptor-deficient (MOR-/-) mice injected with...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2010.01158.x
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:The accuracy of diagnosis of skin cancer and especially of early malignant melanoma is most important to reduce its morbidity and mortality. Previous pilot studies using electrical impedance measurements indicate statistically significant accuracies for the detection of skin cancer. OBJECTIVES:The aim of th...
journal_title:Experimental dermatology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1600-0625.2011.01285.x
更新日期:2011-08-01 00:00:00
abstract::Interferon-γ (IFNγ)-induced collapse of hair follicle (HF) immune privilege (IP) is a key element in the pathogenesis of alopecia areata. In this pilot study, we investigated whether the immunosuppressive neuropeptide, calcitonin gene-related peptide (CGRP), can protect from and/or restore IFNγ-induced HF-IP collapse....
journal_title:Experimental dermatology
pub_type: 信件
doi:10.1111/j.1600-0625.2011.01432.x
更新日期:2012-03-01 00:00:00
abstract::Psoriasis is a chronic skin disease that affects about 1.5% of the Caucasian population and is characterized by typical macroscopic and microscopic skin alterations. Psoriatic lesions are sharply demarcated, red and slightly raised lesions with silver-whitish scales. The microscopic alterations of psoriatic plaques in...
journal_title:Experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0625.2007.00629.x
更新日期:2007-10-01 00:00:00
abstract::We have previously demonstrated that serum of patients with pemphigus vulgaris induces reduction of desmoglein 3 (Dsg3) half-life in keratinocytes (FEBS Lett 2006: 580: 3276). This phenomenon seems to occur as a consequence of the progressive depletion of Dsg3 from desmosomes. Here we reported that reduction of full-l...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2008.00719.x
更新日期:2008-10-01 00:00:00
abstract::There have been few reports of successful long-term culture of cells established from cutaneous basal cell carcinoma (BCC) tumors. Here, we describe techniques that have enabled us to establish three long-term cultures of BCC cells isolated from BCC tumors that arose in irradiated Patched 1 (Ptch1)(+/-) mice. All thre...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2006.00465.x
更新日期:2006-09-01 00:00:00
abstract::C1 inhibitor (C1INH) plays an important role in the classical pathway of the complement system. Mutations in C1INH gene cause quantitative or qualitative deficiencies in C1INH, which can lead to hereditary angioedema (HAE) type I or II. Here, we identified a novel frame-shift mutation c.1391-1445del55 (p.v464fsx556) i...
journal_title:Experimental dermatology
pub_type: 信件
doi:10.1111/j.1600-0625.2012.01563.x
更新日期:2012-10-01 00:00:00
abstract::The last decade has seen a considerable improvement in the understanding of the biology of melanoma. Advances have come in the understanding of the importance of critical oncogenes and tumour suppressor genes, epigenetic phenomena, signalling pathways, drug resistance mechanisms, the pivotal role of the local immune s...
journal_title:Experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0625.2007.00673.x
更新日期:2008-05-01 00:00:00
abstract::Dermal papilla cells (DPC) control the growth character of the hair follicle through their elaboration of mitogenic factors and extracellular matrix components. Further, the dermal papilla is a primary site of androgen action in the hair follicle. Interleukin-1alpha (IL-1alpha) is prominent in skin wounding and inflam...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2006.00462.x
更新日期:2006-10-01 00:00:00
abstract::Rosacea is one of the most common dermatoses of adults. Although the detailed pathophysiology remains unknown, it is thought that rosacea is caused by a consistently aberrant, innate immune response, and that LL-37 plays an important role. However, involvement of the inflammatory cytokine IL-33 has not yet been studie...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.13702
更新日期:2018-09-01 00:00:00