Abstract:
:Pseudoxanthoma elasticum (PXE), a systemic heritable connective tissue disorder, is characterized by progressive calcification of elastic structures in the skin, the eyes and the cardiovascular system, with considerable intra- and interfamilial phenotypic variability. Recently, underlying genetic defects have been identified in the ABCC6 gene, which resides on the chromosomal locus 16p13.1 and encodes the MRP6 protein, a member of the ATP-binding cassette (ABC) family of proteins. The affected individuals are homozygous or compound heterozygous for a spectrum of genetic lesions, including nonsense and missense mutations, or deletions and splice-site alterations, confirming the autosomal recessive nature of this condition. Analysis of the deduced primary sequence suggests that MRP6 is a transmembrane transporter, but its function has not been delineated yet. Surprisingly, however, MRP6 is expressed primarily, if not exclusively, in the liver and the kidneys, suggesting that PXE may be a primary metabolic disorder with secondary involvement of elastic fibers. Identification of mutations in the ABCC6 gene in PXE provides a means for prenatal and presymptomatic testing in families at risk for recurrence. DNA-based analyses will also identify heterozygous carriers who may be at risk for development of limited manifestations of the disease as a result of compounding genetic factors and/or environmental modifiers.
journal_name
Exp Dermatoljournal_title
Experimental dermatologyauthors
Ringpfeil F,Pulkkinen L,Uitto Jdoi
10.1034/j.1600-0625.2001.100401.xsubject
Has Abstractpub_date
2001-08-01 00:00:00pages
221-8issue
4eissn
0906-6705issn
1600-0625pii
exd100401journal_volume
10pub_type
杂志文章,评审abstract::Formation of a stratified epidermis is required for the performance of the essential functions of the skin; to act as an outside-in barrier against the access of microorganisms and other external factors, to prevent loss of water and solutes via inside-out barrier functions and to withstand mechanical stresses. Epider...
journal_title:Experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/exd.13696
更新日期:2018-08-01 00:00:00
abstract::Second-harmonic-generation (SHG) microscopy is a powerful tool for in vivo visualisation of collagen fibres in human skin because of its specific collagen selectivity without the need for staining, non-invasiveness and high-resolution three-dimensional imaging. Although texture analysis of SHG images is a promising me...
journal_title:Experimental dermatology
pub_type: 临床试验,杂志文章
doi:10.1111/exd.13560
更新日期:2019-08-01 00:00:00
abstract::It is widely recognized that tobacco smoke causes skin pigmentation. No studies, however, have directly evaluated the mechanisms of the changes in smoker's skin pigmentation. In this study, when cultured with water-soluble tobacco smoke extract, the human epidermal melanocytes grew to a large size and produced more me...
journal_title:Experimental dermatology
pub_type: 信件
doi:10.1111/exd.12170
更新日期:2013-08-01 00:00:00
abstract::Solar ultraviolet (UV) radiation has hazardous effects on human health that are, in part, associated with its immunosuppressive effects via the induction of interleukin (IL)-10 production. Although IL-10 is produced by both T helper type 2 (Th2) cells and T-regulatory type 1 (Tr1) cells, the relative contribution of e...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2006.00452.x
更新日期:2006-08-01 00:00:00
abstract::Mycosis fungoides (MF) is the most frequent variant of cutaneous T-cell lymphomas (CTCLs). MF primarily involves the skin initially with patches and plaques. In later stages, cutaneous tumors develop and tumor cells may spread to lymph nodes and finally to visceral sites. Here, we describe an animal model for MF in im...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.0906-6705.2004.00201.x
更新日期:2004-07-01 00:00:00
abstract::Tetracyclines (TCN) have powerful anti-inflammatory properties in addition to their anti-microbial effects. These anti-inflammatory effects are thought to play a role in inhibiting cutaneous inflammation in patients with rosacea and acne; however, the mechanism(s) of this action remains poorly understood. We have prev...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2008.00716.x
更新日期:2008-09-01 00:00:00
abstract::We previously reported that sphingosine-1-phosphate (S1P) decreases melanin synthesis via extracellular signal-regulated protein kinase (ERK) activation and microphthalmia-associated transcription factor (MITF) degradation. Although FTY720 is an S1P structural analogue, the effects of FTY720 on melanogenesis are not c...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2010.01148.x
更新日期:2011-03-01 00:00:00
abstract::Bullous pemphigoid (BP) and pemphigoid gestationis (PG) are acquired autoimmune subepidermal blistering diseases characterized by autoantibodies against the hemidesmosomal proteins BP180/type XVII collagen and BP230. In the vast majority of BP and PG patients, these autoantibodies bind to epitopes clustered within the...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2007.00592.x
更新日期:2007-09-01 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::For many years, the function of the sebaceous gland (SG) was underestimated and suggested by Albert M. Kligman as a remnant of human development, a 'living fossil with a past but no future'. However, the last two decades of studies and the discovery of neuro-endocrine pathways in skin have determined the importance of...
journal_title:Experimental dermatology
pub_type: 评论,杂志文章
doi:10.1111/exd.12221
更新日期:2013-10-01 00:00:00
abstract::Despite the increasing use of gene transfer strategies in the study of cellular and molecular biology, melanoma cells have remained difficult to transfect in a safe, efficient, and reproducible manner. In the present study, we report the successful use of nucleofector technology to transfect human melanoma cell lines....
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2007.00687.x
更新日期:2008-05-01 00:00:00
abstract::The miRNA expression profiles of skin biopsies from 14 primary cutaneous anaplastic large cell lymphoma (C-ALCL) patients were analysed with miRNA microarrays using the same control group of 12 benign inflammatory dermatoses (BID) as previously used to study the miRNA expression profile of tumor-stage mycosis fungoide...
journal_title:Experimental dermatology
pub_type: 信件
doi:10.1111/j.1600-0625.2012.01548.x
更新日期:2012-08-01 00:00:00
abstract::Mastocytosis represents a group of disorders characterized by the proliferation and accumulation of mast cells in tissue. The aim of the present study was to examine whether the interstitial histamine concentration in the skin is increased in mastocytosis patients and whether it correlates with the number of mast cell...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1034/j.1600-0625.2001.010002118.x
更新日期:2001-04-01 00:00:00
abstract::Proteases and their receptors have poorly understood roles in skin fibrosis and systemic scleroderma (SSc). We examined the role of protease-activated receptors (PAR(1) and PAR(2) ) in the pathophysiology of human SSc and skin fibrosis. Immunohistochemistry showed that PAR(1) immunoreactivity was positive in fibroblas...
journal_title:Experimental dermatology
pub_type: 信件
doi:10.1111/j.1600-0625.2010.01184.x
更新日期:2011-01-01 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::SHARPIN is an important component of the linear ubiquitin chain assembly complex (LUBAC). Loss of function of SHARPIN results in eosinophilic inflammation in multiple organs including skin with Th2 -dominant cytokines and dysregulated development of lymphoid tissues in mice. The clinicopathological features are simila...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.13784
更新日期:2018-12-01 00:00:00
abstract::Electrical stimulation is being used in variable skin therapeutic conditions. There have been clinical studies demonstrating the positive effect of electrical stimuli on hair regrowth. However, the underlying exact mechanism and optimal parameter settings are not clarified yet. To investigate the effects of different ...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.12827
更新日期:2015-12-01 00:00:00
abstract::Ultraviolet B (UVB) radiation induces inflammation in the skin specifically at the site of exposure. We unexpectedly found that UVB-induced inflammation was not induced in gp91phox-depleted mice. To test whether gp91phox is directly involved in UVB-induced inflammation, neutrophil- and hyaluronic acid-depleted mice we...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.12032
更新日期:2012-12-01 00:00:00
abstract::Antibodies, specific to murine DEC205, can be used to target antigens to dendritic cells. The immunodominant domain of human type XVII collagen, hNC16A, was fused to this antibody (DEC-hNC16A) and was administered as expression plasmid by gene gun transfection with the aim of inducing tolerance to human type XVII coll...
journal_title:Experimental dermatology
pub_type: 信件
doi:10.1111/j.1600-0625.2012.01474.x
更新日期:2012-05-01 00:00:00
abstract::Terence Kealey first pioneered the isolation and organ maintenance of human eccrine and sebaceous glands in the early to mid-1980. This led to subsequent methods describing the isolation and culture of human hair follicles, the human pilosebaceous unit as well as the sebaceous duct. The importance of these models in t...
journal_title:Experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/exd.13669
更新日期:2018-05-01 00:00:00
abstract::Shprintzen-Goldberg syndrome (SGS) is a rare disorder characterized by a Marfan-like habitus, mental retardation and craniosynostosis. Cardiac abnormalities, such as aortic root dilation have also been noted as well as several skeletal abnormalities. Its nosological status is unclear as it is hard to delineate SGS fro...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2007.00648.x
更新日期:2008-04-01 00:00:00
abstract::In the area of dermatological research, the knowledge of rate and extent of substance penetration into the human skin is essential not only for evaluation of therapeutics, but also for risk assessment of chemicals and cosmetic ingredients. Recently, confocal Raman microscopy emerged as a novel analytical technique for...
journal_title:Experimental dermatology
pub_type: 信件
doi:10.1111/exd.12542
更新日期:2014-12-01 00:00:00
abstract::Topical photodynamic therapy with 5-aminolevulinic acid (5-ALA) is a newly established treatment modality for epithelial skin cancer. Skin distribution of different 20% 5-ALA formulations was investigated by detection of protoporphyrin IX (PpIX) using an ex vivo porcine skin model. Fluorescence of PpIX was first detec...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2008.00705.x
更新日期:2008-10-01 00:00:00
abstract::Pemphigus vulgaris (PV) is a regulatory T cell (Treg)-associated autoimmune disease. Treg cells maintain immunosuppression by expressing the signature transcription factor FOXP3. MicroRNAs (miRNAs) have frequently emerged as regulators in Treg-mediated immunosuppression. We previously found that miR-338-3p was overexp...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.14111
更新日期:2020-05-09 00:00:00
abstract::This study was stimulated by the clinical observation of a rapid response of a chilblain lupus patient to treatment with JAK1/2-kinase inhibitor ruxolitinib. We investigated the in vivo expression of phospho-JAK2 in CLE skin samples as well as the immunomodulatory in vitro effect of ruxolitinib in cultured immortalize...
journal_title:Experimental dermatology
pub_type: 信件
doi:10.1111/exd.13253
更新日期:2017-08-01 00:00:00
abstract::The expansive use of immunosuppressive medications in fields such as transplantational medicine and oncology, the higher frequency of invasive procedures in an ageing population and the HIV/AIDS pandemic have increased the frequency of systemic fungal infections. At the same time, increased resistance of pathogenic fu...
journal_title:Experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/exd.12004
更新日期:2012-10-01 00:00:00
abstract::Irradiation of human keratinocytes with UVB (280-320 nm) in vitro and in vivo activates the metabolism of 7-dehydrocholesterol to hormonally active calcitriol. The production of calcitriol in the skin strongly depends on the photosynthesis of vitamin D(3) which is biologically inactive in the first instance. Vitamin D...
journal_title:Experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0625.2008.00810.x
更新日期:2009-02-01 00:00:00
abstract::Vitiligo is a chronic skin disease characterized by the appearance of zones of depigmentation. It is mostly described as an autoimmune disease in which the immune system destroys the melanocytes. Consistent with this origin, genetic studies have implicated genes encoding proteins mediating the immune response targetin...
journal_title:Experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/exd.13858
更新日期:2019-06-01 00:00:00
abstract::Despite the lack of protective melanin and increased oxidative stress due to mM concentrations of epidermal H2O2 in vitiligo, there is no significantly increased risk for chronic actinic damage and non-melanoma skin cancer. Therefore the question arises, which protective mechanisms could be involved in the skin of the...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1034/j.1600-0625.2003.00084.x
更新日期:2003-06-01 00:00:00
abstract::Using the indirect immunohistochemical approach, the occurrence of gamma-melanocyte stimulating hormone (gamma-MSH)-like immunoreactivity in human normal keratinocytes is described. The positive cells were observed in each layer of the epidermis (except stratum corneum) and often, at the level of the stratum spinosum,...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.1993.tb00034.x
更新日期:1993-10-01 00:00:00