Abstract:
:Genetic syndromes with skin fragility represent a heterogeneous group of very rare disorders caused by mutations in genes encoding proteins or protein subunits important for the mechanical resistance of keratinocytes and for cell-cell or cell-extracellular matrix adhesion. The common symptoms are skin blistering or peeling, with various degrees of severity and distribution, ranging from localized to generalized forms. Associated features include involvement of skin annexes, mucous membranes, teeth, muscles or the digestive tract. Morphological investigation of skin samples provides evidence for the tissue level of blister formation, while immunostainings may reveal defective proteins, providing clues concerning the genetic origin of the disease. Extensive mutation analysis and subsequent identification of new gene defects provide accurate diagnostics, and lead to better understanding of the functions of the respective proteins, with the potential for new therapeutic strategies.
journal_name
J Dermatol Scijournal_title
Journal of dermatological scienceauthors
Has C,Bruckner-Tuderman Ldoi
10.1016/j.jdermsci.2006.08.003subject
Has Abstractpub_date
2006-12-01 00:00:00pages
129-44issue
3eissn
0923-1811issn
1873-569Xpii
S0923-1811(06)00224-6journal_volume
44pub_type
杂志文章,评审abstract:BACKGROUND:Dry skin causes pruritus and discomfort in patients with xerosis and atopic dermatitis. General treatment for skin dryness involves the topical application of an emollient. However, more effective, simpler therapies are desired. Collagen tripeptide (CTP) is a highly purified, non-antigenic, low-allergenic co...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2012.02.004
更新日期:2012-05-01 00:00:00
abstract:BACKGROUND:Carbonylated proteins (CPs) are generated by the reaction of basic amino acid residues in proteins with aldehyde compounds produced during lipid peroxidation. CPs in the stratum corneum (SC) impact skin conditions such as skin moisture functions including water content and transepidermal water loss (TEWL). I...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2016.09.016
更新日期:2016-12-01 00:00:00
abstract:BACKGROUND:Pseudoxanthoma elasticum (PXE) is an autosomal recessive metabolic disorder with ectopic mineralization in the skin, eyes and cardiovascular system. PXE is caused by mutations in ABCC6. OBJECTIVE:To examine 54 unrelated South African PXE patients for ABCC6 PXE causing mutations. METHODS:Patients were scree...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2009.02.008
更新日期:2009-06-01 00:00:00
abstract::The CC-chemokine TARC is known to be a ligand for the CCR4 receptor which in turn is known to be expressed selectively on the Th(2)-subset of lymphocytes. Atopic dermatitis is generally believed to be a Th(2)-type disease, and TARC has been shown to be expressed in the skin lesions of a murine model of AD. IL-10 is an...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(00)00160-2
更新日期:2001-05-01 00:00:00
abstract:BACKGROUND:Both lymph nodes (LNs) and lymphatic channels from primary sites to regional LNs are critical for initiation of adaptive immunity. However, as LNs are common metastatic sites in skin cancers, LN biopsies or dissections are frequently performed. In addition, reconstructive skin flaps after tumor resection may...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2017.12.016
更新日期:2018-04-01 00:00:00
abstract::Survival and extracellular matrix gene expression were studied by viable cell count assay and Northern transfer analysis to compare the sensitivity of normal skin and keloid fibroblasts towards x-irradiation. As the dosage of radiation increased, the numbers of viable cells in irradiated groups were remarkably decreas...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/0923-1811(94)90318-2
更新日期:1994-08-01 00:00:00
abstract:BACKGROUND:The molecular pathogenesis of mycosis fungoides (MF) is currently poorly understood. The chemokine receptor CCR7 has been demonstrated to be involved in the development and progression of certain cancers, but its role in MF has rarely been investigated. OBJECTIVES:We seek to determine whether CCR7 is expres...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2013.12.003
更新日期:2014-04-01 00:00:00
abstract::Injury to vessel walls, especially microvascular damage due to free radicals, has been a focus of interest concerning the pathogenesis of systemic sclerosis. Excess reactive oxygen species may induce antioxidant defenses. We therefore measured plasma superoxide dismutase (SOD) activity in patients with systemic sclero...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/0923-1811(95)00441-6
更新日期:1996-03-01 00:00:00
abstract:BACKGROUND:Netherton syndrome (NS, MIM 256500) is a potential live threatening autosomal-recessive skin disorder clinically characterized by the trias of congenital erythroderma, hair shaft anomalies and atopic diathesis. It is caused by mutations in the gene SPINK5 resulting in a deficiency of its processed protein na...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2010.12.004
更新日期:2011-03-01 00:00:00
abstract::In order to know the possible effects of gastrin releasing peptide (GRP) on nevus cells and melanocytes, we studied the effect of GRP on the proliferation of cultured human nevus cells and normal melanocytes. MTS assay showed that GRP stimulated the growth of viable melanocytes at 1000 ng/ml. GRP also stimulated the g...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(97)00079-0
更新日期:1998-06-01 00:00:00
abstract:BACKGROUND:As interest in skin beauty increases, the development of new skin whitening agents has attracted substantial attention; however, the action mechanism of the agents developed so far remains largely unknown. Tranexamic acid (TXA) is commonly being used to reduce melanin synthesis in patients with melasma and a...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2017.05.019
更新日期:2017-10-01 00:00:00
abstract:BACKGROUND:The analysis of prognostic factors in Japanese cases of cutaneous T-cell lymphoma (CTCL) is scarce. Clusterin is a ubiquitous 80kDa heterodimeric glycoprotein expressed on tumor cells of systemic and primary cutaneous anaplastic large cell lymphoma. The expression of clusterin in mycosis fungoides (MF) and S...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2013.04.020
更新日期:2013-09-01 00:00:00
abstract:BACKGROUND:Psoriasis is a chronic inflammatory disease characterized by demarcated, raised, and scaling skin lesions. It often serves as a model for immune-mediated disorders. Gene expression profiling of affected skin has allowed insights into psoriasis pathogenesis. However, the mechanisms leading to specific mRNA ex...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2019.11.003
更新日期:2020-01-01 00:00:00
abstract:BACKGROUND:Main pathway in human melanocytes through which signal from the melanocortin system reaches the melanogenesis enzymes is cAMP/PKA pathway and it is modulated by Wnt and MAPK pathways. In our previous study we established significant increase of melanocortin receptor expression in unaffected skin of vitiligo ...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2008.03.013
更新日期:2008-10-01 00:00:00
abstract::Our previous study reported that advanced glycation end-products (AGE)-modified BSA produced active oxygen species, *O2-, H2O2, and *OH under UVA irradiation and enhanced the cytotoxicity of UVA light. We examined whether pentosidine in AGE-modified BSA was involved in one of the mechanisms generating the active oxyge...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(01)00114-1
更新日期:2001-08-01 00:00:00
abstract::Examining damage (inactivation) of antioxidant enzymes in the cells and the pattern of recovery after a single UV exposure might be a useful method for analyzing the mechanisms of chronic UV irradiation, because chronic UV irradiation means repeated single exposures. We irradiated human skin fibroblasts with a single ...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(96)00578-6
更新日期:1997-03-01 00:00:00
abstract:BACKGROUND:Sarcoidosis is a systemic granulomatous disease characterized by the combination of Th1 and Th17 responses. Recently, several arguments have suggested a potential involvement of B cells as well as T cells in the pathogenesis of sarcoidosis. Follicular helper CD4+ T (TFH) cells are specialized in interacting ...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2020.02.002
更新日期:2020-03-01 00:00:00
abstract:BACKGROUND:We sometimes encounter difficulties in assessing the severity of pediatric atopic dermatitis (AD) using currently available biomarkers such as thymus and activation-regulated chemokine (TARC) due to the higher baseline values in non-AD children. Recent case control studies have indicated the usefulness of sq...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2019.07.005
更新日期:2019-08-01 00:00:00
abstract::We developed a new method for evaluating clinical symptoms of psoriasis during the observation period, by adding a parameter of time (the number of days) to the psoriasis area and severity index (PASI). This method was named the evaluation for prognosis with averaged PASI (E-PAP). Using this method, we assessed 14 cas...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(97)00047-9
更新日期:1998-01-01 00:00:00
abstract:BACKGROUND:Cutaneous T cell lymphoma (CTCL) comprises a heterogeneous group of skin-homing T cell tumors. The small guanosine triphosphate effector p21-activated kinase 1 (PAK1) plays an important role in many fundamental cellular functions, including cell motility, proliferation, and apoptosis. The expression of PAK1 ...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2017.11.019
更新日期:2018-04-01 00:00:00
abstract:BACKGROUND:Atopic dermatitis (AD) is a chronic inflammatory skin disease that often cannot be completely controlled by modern medicine. Since multiple factors are intricately involved in the pathogenesis of AD, wide-ranging research is required for further advancement of AD treatment. Epidermal keratinocytes are the fo...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2017.06.017
更新日期:2017-11-01 00:00:00
abstract::A simple method is described for the procurement of human blood eosinophil phenotypes by combining an anti-CD16 monoclonal antibody, immunobeads, and a non-toxic and non-ionic density gradient medium, Nycodenz. The purification depends on the removal of mononuclear cells using a 1.076/1.102 g/ml Nycodenz density gradi...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/0923-1811(95)00394-8
更新日期:1995-09-01 00:00:00
abstract::Clinical analysis was performed on anti-cardiolipin x beta2 glycoprotein 1 (ACL x beta2 GP1) antibody positive patients with collagen vascular diseases. Nine patients out of 89 showed positive aCL x beta2 GP1 antibody which was a relatively lower percentage compared to that of othoffanti-phospholipid antibodies, such ...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/0923-1811(94)00380-w
更新日期:1995-05-01 00:00:00
abstract:BACKGROUND:Vitiligo and halo nevus are two common T-cell-mediated skin disorders. Although autoimmunity has been suggested to be involved in both diseases, the relationship between vitiligo and halo nevus is not fully understood. OBJECTIVE:The aim of the current study was to investigate whether vitiligo and halo nevus...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2017.03.008
更新日期:2017-07-01 00:00:00
abstract::Skin sulfhydryl oxidase (SOx) is an enzyme that catalyzes disulfide (S-S) cross-linking through the oxidation of sulfhydryl compounds in the skin. In this study, using the enzyme purified from rat seminal vesicle, we obtained peptide sequences for SOx by mass spectrometry. We then searched for SOx nucleotides correspo...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(02)00061-0
更新日期:2002-10-01 00:00:00
abstract:BACKGROUND:Psoriasis is a chronic inflammatory dermatosis that has been associated with various cardiovascular and metabolic comorbidities, including myocardial infarction, stroke, and diabetes mellitus. Recently, there are studies reporting the association of psoriasis with renal diseases. OBJECTIVE:To evaluate the r...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2015.03.012
更新日期:2015-06-01 00:00:00
abstract::Alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency with angiokeratoma corporis diffusum (AKCD) is one of the lysosomal storage diseases. GalNAc(alpha))1-O-Ser/Thr (Tn) is theoretically deposited in lysosomes, but substances with attached galactose and neuraminic (sialic) acid (T and sialosyl Tn, respectively) are...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/s0923-1811(02)00005-1
更新日期:2002-05-01 00:00:00
abstract::Telomerase is a ribonucleoprotein enzyme that catalyses the addition of telomeric repeats to telomeres. Since the shortening of telomeres is thought to act as a mitotic clock, activation of telomerase is crucial for the continued growth of cancer cells. Telomerase is frequently activated in premalignant and malignant ...
journal_title:Journal of dermatological science
pub_type: 杂志文章,评审
doi:10.1016/s0923-1811(99)00075-4
更新日期:2000-03-01 00:00:00
abstract:BACKGROUND:Ultraviolet (UV) irradiation is the main contributing factor for skin aging. UV irradiation induces epigenetic changes in skin. It increases the activity of histone acetylases (HATs) but decreases that of histone deacetylases (HDACs). OBJECTIVE:We aimed to investigate alterations in all classes of HDACs and...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/j.jdermsci.2020.11.008
更新日期:2020-12-03 00:00:00
abstract::An immunoperoxidase technique was performed to detect keratinolytic proteinase (KPase) in sections of the skin taken from guinea pigs infected with Microsporum canis and in cultured M. canis using polyclonal antisera to purified KPase. Of tissue samples from guinea pigs infected with M. canis, all sections of erythema...
journal_title:Journal of dermatological science
pub_type: 杂志文章
doi:10.1016/0923-1811(90)90015-6
更新日期:1990-11-01 00:00:00