Abstract：
BACKGROUND:Pseudoxanthoma elasticum (PXE) is an inherited systemic disorder, characterized by dermal, ocular and cardiovascular lesions. Genetic defects of the ABCC6 (MRP6) transporter are known to cause PXE. OBJECTIVES:The purpose of this study was to identify the genetic background of a PXE patient with a very early onset of the disease and severe systemic involvement. METHODS:Direct sequencing of genomic DNA obtained from peripheral whole blood. RESULTS:Our patient was found to be compound heterozygous with both ABCC6 alleles having genomic deletions. A novel exon 24-25 deletion was identified on one allele, while the frequently observed exon 23-29 deletion was found on the other allele. The novel deletion is 4.68 kb long and was shown to extend from intron 23 to 25. DNA-sequencing of a 2.03 kb fusion fragment revealed the deletion breakpoints within introns 23 and 25 originating in the middle of two Alu-repeats. CONCLUSION:In a patient with severe clinical symptoms, we found two genomic deletions in regions that might be important for function of the ABCC6 transporter. Genomic deletions in ABCC6 may occur more frequently in PXE patients than previously expected and future genetic analysis should focus on these mutations as well.
journal_name
J Dermatol Scijournal_title
Journal of dermatological scienceauthors
Katona E,Aslanidis C,Remenyik E,Csikós M,Kárpáti S,Paragh G,Schmitz Gdoi
10.1016/j.jdermsci.2005.07.010subject
Has Abstractpub_date
2005-11-01 00:00:00pages
115-21issue
2eissn
0923-1811issn
1873-569Xpii
S0923-1811(05)00234-3journal_volume
40pub_type
杂志文章abstract：:Smoking tobacco is the most preventable cause of morbidity and is responsible for more than three million deaths a year worldwide. In addition to a strong association with a number of systemic diseases, smoking is also associated with many dermatological conditions, including poor wound healing, premature skin aging, ...
journal_title：Journal of dermatological science
pub_type： 杂志文章,评审
doi：10.1016/j.jdermsci.2007.06.015
更新日期：2007-12-01 00:00:00
abstract：:Flank organs of male Golden Syrian hamsters contain sebaceous glands and hair follicles whose morphology and function are highly dependent on androgen, which makes these organs a useful model to study androgen action. In order to investigate molecular mechanisms of androgen action, we cloned a cDNA encoding the hamste...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/s0923-1811(00)00172-9
更新日期：2001-07-01 00:00:00
abstract：:The unfolded protein response (UPR) is a signaling pathway from the endoplasmic reticulum (ER) to the nucleus that protects cells from stress caused by misfolded or unfolded proteins. As such, ER stress is an ongoing challenge for all cells, given the central biologic importance of secretion as part of normal physiolo...
journal_title：Journal of dermatological science
pub_type： 杂志文章,评审
doi：10.1016/j.jdermsci.2012.12.002
更新日期：2013-03-01 00:00:00
abstract：BACKGROUND:Transforming growth factor beta 1 (TGFβ) is known to be a regulator of autoimmunity. Loss of TGFβ leads to severe multi-organ autoimmunity in mice. In skin, role of TGFβ in suppressing autoimmunity is unclear. OBJECTIVE:Determine whether Keratinocyte (KC)-derived TGFβ is required for skin immune homeostasis...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/j.jdermsci.2019.04.008
更新日期：2019-05-01 00:00:00
abstract：:Considerable evidence suggests that factor XIIIa, a blood coagulation factor, also functions in tissue repair, and specifically in the dynamic process of fibroplasia. On the other hand, the dynamic process of tissue expansion would require a loosening of the dermis, the opposite of fibroplasia. We examined the effects...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/0923-1811(91)90044-x
更新日期：1991-01-01 00:00:00
abstract：BACKGROUND:Comprehensive data regarding the epidemiology of chronic urticaria (CU) in general populations are scant. OBJECTIVES:To investigate the prevalence, incidence, and comorbidities of CU in general population. METHODS:The data were sourced from the National Health Insurance Research Database (NHIRD) for 2009-2...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/j.jdermsci.2017.07.006
更新日期：2017-11-01 00:00:00
abstract：:Systemic sclerosis (SSc) is a connective tissue disease with unknown etiology characterized by excessive deposition of collagen in the skin as well as various internal organs. One of the characteristic histological features is the presence of infiltrating mononuclear cells in the dermis in its early stage. As well as ...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/s0923-1811(00)00169-9
更新日期：2001-06-01 00:00:00
abstract：BACKGROUND:The CC chemokine ligand 18 (CCL18) has a higher expression in some tumors, while the CCL18 level can be a marker of tumor progression and prognosis. We previously reported that the expression of CCL18 gene was dramatically up-regulated in cutaneous malignant melanoma (CMM) and its expression levels were corr...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/j.jdermsci.2018.06.011
更新日期：2018-09-01 00:00:00
abstract：:Thiols are of great importance for the regulation of many cellular functions including metabolism, transport and cell protection. In this study the usefulness of L-cysteine methyl and octyl esters, of N,S-diacetyl-L-cysteine methyl ester and glutathione isopropyl ester as cellular cysteine and GSH delivery systems was...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/0923-1811(90)90008-2
更新日期：1990-01-01 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:Skin is the outermost tissue of the human body, and works as a mechanical, chemical, and biological barrier. The epidermis is the uppermost layer of the skin, and keratinocytes constitute the majority of epidermal cells. Wounds are disruptions of skin integrity, and cause tremendous disadvantages to humans; ...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/j.jdermsci.2016.10.008
更新日期：2017-02-01 00:00:00
abstract：BACKGROUND:Foot ulcers are one of the main diabetes complications due to its high frequency and difficulty of complete healing. There are several factors that participate in diabetic ulcers development and limited information exists about the role of antimicrobial peptides (AMP) in its pathogenesis. OBJECTIVE:The aim ...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/j.jdermsci.2011.09.013
更新日期：2012-01-01 00:00:00
abstract：BACKGROUND:1 alpha,25-Dihydroxyvitamin D3 (1 alpha,25(OH)2D3), the active form of vitamin D, suppresses keratinocyte proliferation, promotes keratinocyte differentiation, and induces involucrin expression. Peroxisome proliferation-activated receptors (PPARs) are ligand-activated transcription factors. It has been repor...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/j.jdermsci.2007.10.011
更新日期：2008-04-01 00:00:00
abstract：BACKGROUND:Fascin is an actin-binding protein that regulates the rearrangement of cytoskeletal elements and their interactions with the cell membrane. Previous studies have indicated that fascin expression is enhanced in DC upon maturation and plays a critical role in T cell activation. Ultraviolet irradiation exerts i...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/j.jdermsci.2005.05.004
更新日期：2005-12-01 00:00:00
abstract：BACKGROUND:The process of repair after skin injury is precisely regulated by a variety of mediators such as cytokines and chemokines. Recent reports demonstrated that cytoplasmic DNA-sensor cyclic GMP-AMP synthase (cGAS) activates the stimulator of interferon genes (STING) via production of cyclic GMP-AMP (cGAMP) and s...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/j.jdermsci.2019.11.008
更新日期：2020-01-01 00:00:00
abstract：BACKGROUND:Kojic acid is a fungal metabolite widely used in medicinal and cosmetic formulations as a skin-lightening agent based on its de-pigmenting activity. Although in human clinical studies kojic acid has been shown to be effective in the treatment of hyper-pigmentation disorders such as melasma, the reasons for i...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/j.jdermsci.2012.03.002
更新日期：2012-06-01 00:00:00
abstract：:Propionibacterium acnes (P. acnes) causes an inflammatory acne that is characterized by massive neutrophilic infiltration. IL-8 is thought to play an important role in the pathophysiology of P. acnes, although the mechanisms by which P. acnes up-regulates the release of IL-8, a neutrophilic chemokine, from target cell...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/s0923-1811(02)00013-0
更新日期：2002-08-01 00:00:00
abstract：BACKGROUND:Telomere shortening has been implicated in cellular senescence, which may cause certain aging phenotypes. OBJECTIVE:To reveal whether telomere shortening is associated with chronological aging and/or photoaging of the skin, we measured telomere length in the epidermis and in the dermis from sun-protected an...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/j.jdermsci.2006.02.004
更新日期：2006-07-01 00:00:00
abstract：:Annexins (AX) or lipocortins are a family of calcium and phospholipid binding proteins that have been implicated to play a role in the regulation of inflammation and cellular differentiation. To investigate a potential role of AX in skin disorders we studied the distribution of six different AX in normal human skin (N...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/0923-1811(93)90043-o
更新日期：1993-12-01 00:00:00
abstract：:The usefulness of the Yucatan miniature pig as a screen for skin dipigmenting activity by topical application was evaluated with standard compounds. This is a naturally occurring breed of swine with light brown to dark brown skin that is relatively hairless. The skin morphology, including the pattern of pigment distri...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/0923-1811(91)90007-k
更新日期：1991-12-01 00:00:00
abstract：BACKGROUND:Atopic dermatitis (AD) is an inflammatory skin disease with an associated barrier dysfunction and Staphylococcus aureus infection. The mainstay steroid and calcineurin inhibitor therapy shows some adverse effects. 2,4-Dimethoxy-6-methylbenzene-1,3-diol (DMD) is a benzenoid isolated from Antrodia camphorata. ...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/j.jdermsci.2018.09.002
更新日期：2018-11-01 00:00:00
abstract：BACKGROUND:Evidence suggests anti-inflammatory effects of glucosamine (GS) on inflammatory diseases. COX-2 is an enzyme to produce prostaglandins. MMPs are the family of matrix metalloproteinases degradable of ECM. Excess expression of COX-2 or MMPs involves in skin inflammation. OBJECTIVE:We evaluated whether GS-HCl ...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/j.jdermsci.2009.06.017
更新日期：2009-10-01 00:00:00
abstract：:Malignant blue nevus is uncommon compared to its benign counterpart and is regarded as a rare form of malignant melanoma. We report the clinical and histological findings in eight cases. Histologically, all eight specimens showed no epidermal involvement and had contained within or were adjacent to portions of blue ne...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/0923-1811(92)90018-7
更新日期：1992-11-01 00:00:00
abstract：BACKGROUND:Aquaporin 3 (AQP3) is the predominant aquaporin in the skin and is overexpressed in hyperplastic epidermal disorders. Upregulation of AQP3 contributes to keratinocyte proliferation and epidermal hyperplasia. Resveratrol, a natural polyphenol, has an anti-proliferative effect on normal human epidermal keratin...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/j.jdermsci.2014.03.004
更新日期：2014-07-01 00:00:00
abstract：:Herpes gestationis (HG) is a rare pregnancy-associated disease. The aim of this study was to compare various immunohistochemical and immunobiochemical techniques with respect to their diagnostic sensitivity for HG. We studied 43 HG sera; only half of these reacted with the basement membrane zone (BMZ) with both indire...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/s0923-1811(96)00509-9
更新日期：1996-11-01 00:00:00
abstract：BACKGROUND:Optical coherence tomography (OCT) is a promising non-invasive imaging technique that has not systematically been studied in skin cancer such as basal cell carcinoma (BCC). OBJECTIVE:We aimed, first, to describe the in vivo histologic features of BCC by using OCT, and second, to find out whether it is possi...
journal_title：Journal of dermatological science
pub_type： 临床试验,杂志文章
doi：10.1016/j.jdermsci.2006.11.012
更新日期：2007-03-01 00:00:00
abstract：BACKGROUND:The phenotypic changes that accompany differentiation of resident fibroblasts into myofibroblasts are important aspects of the wound healing process. Recent studies showed that peroxisome proliferator-activated receptor (PPAR) δ plays a critical role in wound healing. OBJECTIVE:To determine whether the nucl...
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/j.jdermsci.2015.10.005
更新日期：2015-12-01 00:00:00
abstract：BACKGROUND:Ustekinumab has been evaluated in Caucasian patients with psoriasis, but no studies have been conducted in Asian patients. OBJECTIVE:To assess the efficacy and safety of ustekinumab in Taiwanese and Korean patients with moderate-to-severe psoriasis. METHODS:In this 36-week, multicenter, double-blind, place...
journal_title：Journal of dermatological science
pub_type： 杂志文章,多中心研究,随机对照试验
doi：10.1016/j.jdermsci.2011.05.005
更新日期：2011-09-01 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：:Using fetal rat keratinizing epidermal cells (FRSK cells) we investigated the effects of retinoids on the cyclic AMP system. The beta-adrenergic adenylate cyclase response was significantly decreased by the treatment of cells with 1 x 10(-6) M Ro 10-1670. The effect was observed by 12 h and remained for at least 48 h....
journal_title：Journal of dermatological science
pub_type： 杂志文章
doi：10.1016/0923-1811(93)90080-9
更新日期：1993-04-01 00:00:00
