Abstract:
:Lipoid proteinosis (OMIM 247100), also known as Urbach-Wiethe disease or hyalinosis cutis et mucosae, is a rare autosomal recessive disorder characterized by generalized thickening and scarring of the skin and mucosae. In 2002, the disorder was mapped to a locus on chromosome 1q21 and pathogenic mutations were identified in the ECM1 gene, which encodes for the glycoprotein extracellular matrix protein 1 (ECM1). ECM1 has since been shown to have several important biological functions. It has a role in the structural organization of the dermis (binding to perlecan, matrix metalloproteinase-9 and fibulin) as well as being targeted as an autoantigen in the acquired disease lichen sclerosus. ECM1 also shows over-expression in certain malignancies and is abnormally expressed in chronologically aged and photo-aged skin. Thus far, 26 different inherited mutations in ECM1 have been reported in lipoid proteinosis. In this article, we provide an update on the molecular pathology of lipoid proteinosis, including the addition of 15 new mutations in ECM1 to the mutation database, and review the biological functions of the ECM1 protein in health and disease.
journal_name
Exp Dermatoljournal_title
Experimental dermatologyauthors
Chan I,Liu L,Hamada T,Sethuraman G,McGrath JAdoi
10.1111/j.1600-0625.2007.00608.xsubject
Has Abstractpub_date
2007-11-01 00:00:00pages
881-90issue
11eissn
0906-6705issn
1600-0625pii
EXD608journal_volume
16pub_type
杂志文章,评审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::Pemphigus vulgaris (PV) is a severe autoimmune blistering disease of the skin and mucous membranes. As autoantibodies play an essential role in the disease pathogenesis, the serological detection of anti-desmoglein 3 IgG represents a central tool in the diagnosis of the disease. In this study, we show the validation o...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.13488
更新日期:2018-03-01 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::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::Human dermal fibroblasts (HDFs) regulate wound-healing processes in human skin, including the regeneration of skin sensory fibres, in response to various mechanical stimuli. Because nerve growth factor (NGF) has an essential role in sensory regeneration, we evaluated the possible association of NGF with mechanical sti...
journal_title:Experimental dermatology
pub_type: 信件
doi:10.1111/exd.12064
更新日期:2013-01-01 00:00:00
abstract::For decades, an extensive debate is continued on the pathophysiology of vitiligo. Numerous hypotheses have been put forward, and many supported by well-documented arguments. Regardless of the initiating steps, most experts agree that an immune-based melanocyte destruction is responsible for the final steps leading to ...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.13069
更新日期:2017-07-01 00:00:00
abstract::It is well known that the trigger for actinic keratosis (AK) mainly depends on UV exposure. We evaluated the effects of long-term use of sunscreen on the histopathological and dermoscopic changes of AK in aged patients. Eighteen months use of sunscreen produced no change in the number of actinic keratoses or the advan...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.13081
更新日期:2016-08-01 00:00:00
abstract::Pseudoxanthoma elasticum (PXE), a heritable multi-system disorder, is caused by mutations in the ABCC6 gene primarily expressed in the liver. Recent analysis of cultured fibroblasts from patients with PXE has suggested compensatory alterations in the expression of the ABCA-subfamily of genes. We have now determined by...
journal_title:Experimental dermatology
pub_type: 信件
doi:10.1111/j.1600-0625.2010.01240.x
更新日期:2011-05-01 00:00:00
abstract::Ultra-violet B (UVB)-induced oxidative stress crucially perturbs the epidermal homeostasis, and the skin is endowed with protective mechanisms to take action against such damage. Here, we show the possible involvement of t-SNARE protein syntaxin3, a membrane fusion mediator of cytoplasmic vesicles, and which is releas...
journal_title:Experimental dermatology
pub_type: 信件
doi:10.1111/exd.12278
更新日期:2013-12-01 00:00:00
abstract::The early growth response (Egr)-1 is a transcriptional factor which plays an important role in the regulation of cell growth, differentiation, cell survival and immune responses. Emerging evidences including our data demonstrate that the Egr-1 expression is up-regulated in the psoriatic skin lesions. The purpose of th...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.12554
更新日期:2014-12-01 00:00:00
abstract::Keloids are fibrous overgrowth induced by cutaneous injury. The pathogenesis of keloids is poorly understood, and no convincing animal model exists. Current hypotheses of the pathogenesis classify keloids as an entity of aberrant fibrosis. Hyperactivation of the MCP-1/CCR2 axis reportedly causes fibrosis in liver cirr...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2009.01021.x
更新日期:2010-08-01 00:00:00
abstract::Delayed wound healing is one of the major complications in diabetes and is characterized by chronic proinflammatory response, and abnormalities in angiogenesis and collagen deposition. Sirtuin family proteins regulate numerous pathophysiological processes, including those involved in promotion of longevity, DNA repair...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.12762
更新日期:2015-10-01 00:00:00
abstract::The capacity of adult hair follicle dermal cells to participate in new follicle induction and regeneration, and to elicit responses from diverse epithelial partners, demonstrates a level of developmental promiscuity and influence far exceeding that of interfollicular fibroblasts. We have recently suggested that adult ...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1034/j.1600-0625.2003.00106.x
更新日期:2003-04-01 00:00:00
abstract::Tissue-invasive T cells are observed in many inflammatory dermatological diseases, but in most cases, it is not known how they were attracted, what they might recognize, and to which extent they are activated. Answering these questions is surely essential for understanding pathogeneses of the diseases. In a recent iss...
journal_title:Experimental dermatology
pub_type: 评论,杂志文章
doi:10.1111/exd.12387
更新日期:2014-06-01 00:00:00
abstract::Epidermal keratinocytes undergo a continuous process of terminal differentiation, which is accompanied by a dramatic change in the expression and composition of keratins. This complex and carefully orchestrated process is regulated by a large number of signal transduction events and transcriptional factors as well as ...
journal_title:Experimental dermatology
pub_type: 评论,杂志文章
doi:10.1111/exd.12434
更新日期:2014-09-01 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::The transplantation of allogeneic cells such as pancreatic islet cells, bone marrow, and keratinocytes for skin replacement is in growing use clinically. Present techniques which are used to distinguish transplanted allogeneic cells from phenotypically identical host cells in chimeric tissue have serious limitations. ...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.1993.tb00195.x
更新日期:1993-02-01 00:00:00
abstract::For screening of a potential irritant it is essential that an early marker for irritation should be chosen which could be detected before the physiological signs of irritation occur. Interleukin 1 alpha (IL-1alpha) is widely accepted as such a marker in both in vivo and in vitro test systems. In this study, we have de...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1034/j.1600-0625.2001.110304.x
更新日期:2002-06-01 00:00:00
abstract::An ex vivo porcine skin model was utilized to analyse the penetration of 5-aminolevulinic acid (5-ALA) contained in a nanoemulsion-based formulation BF-200 ALA (10% 5-ALA-hydrochloride) versus 16% aminolevulinate methyl ester-hydrochloride in a commercially cream (MAL cream) by fluorescence microscopy of their common ...
journal_title:Experimental dermatology
pub_type: 信件
doi:10.1111/j.1600-0625.2009.01001.x
更新日期:2010-08-01 00:00:00
abstract::The potential of an anti-inflammatory peptide (antiflammin 1) to reduce irritation when delivered transdermally by iontophoresis was examined. A model drug irritant, chlorpromazine, was co-delivered with and without antiflammin 1 by iontophoresis to hairless guinea pigs transdermally. Quantitative skin irritation meas...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.1997.tb00203.x
更新日期:1997-08-01 00:00:00
abstract::We have shown previously in psoriasis a very high prevalence of epidermodysplasia verruciforms-associated human papillomavirus 5 (EVHPV5) DNA and antibodies to human papillomavirus 5 (HPV5) virus-like particle (VLP) L1, and we suggested that this benign hyperproliferative disorder could be a reservoir for EVHPVs. Here...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.0906-6705.2003.00125.x
更新日期:2003-12-01 00:00:00
abstract::Acne is the most common inflammatory skin disease, affecting up to 85% of the 11-30 years old world population. Skin microbiota appears as a key player involved in several skin dermatoses physiopathology. Here, we show that inflammatory skin is associated with changes in the skin microbiota composition on the back of ...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.13988
更新日期:2019-08-01 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::Hair follicles cyclically regenerate throughout adult mammalian life, owing to a resident population of epithelial hair follicle stem cells. Stem cell (SC) activity drives bouts of follicle growth, which are periodically interrupted by follicle regression and rest. These phases and the transitions between them are tig...
journal_title:Experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/exd.14204
更新日期:2020-10-02 00:00:00
abstract::The generation of reactive oxygen species is among the various mechanisms by which ultraviolet radiation damages skin. Tempol, a superoxide dismutase analogue which readily penetrates cell membranes when administered exogenously, has been shown to provide protection against some forms of oxygen-dependent damage. In th...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1034/j.1600-0625.2001.100107.x
更新日期:2001-02-01 00:00:00
abstract::Drug resistance in melanoma is commonly attributed to ineffective apoptotic pathways. Targeting apoptosis regulators is thus considered a promising approach to sensitizing melanoma to therapy. In the previous issue of Experimental Dermatology, Plötz and Eberle discuss the role that apoptosis plays in melanoma progress...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.12400
更新日期:2014-07-01 00:00:00
abstract::Quercetin, glycosylated form of flavonoid compound, has potent antioxidant and anti-inflammatory properties. In this study, we have investigated the effects of quercetin on skin lesion, high-mobility group box (HMGB)1 cascade signalling and inflammation in atopic dermatitis (AD) mouse model. AD-like lesion was induced...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.12685
更新日期:2015-06-01 00:00:00
abstract::MicroRNAs (miRNAs) are small non-coding RNA molecules, which function in RNA silencing and post-transcriptional regulation of gene expression. Psoriasis is an inflammatory skin disease characterized by the dysfunction of keratinocytes, with the immune dysregulation. We reviewed the recent studies on the roles of miRNA...
journal_title:Experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/exd.13249
更新日期:2017-04-01 00:00:00
abstract::Sunburn cell (SBC) formation in the epidermis is a characteristic consequence of ultraviolet radiation (UVR) exposure at doses around or above the minimum erythema dose. SBC have been identified morphologically and biologically as keratinocytes undergoing apoptosis. There is evidence that SBC formation is a protective...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1034/j.1600-0625.2001.010003155.x
更新日期:2001-06-01 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