Abstract：
:Marie Unna Hereditary Hypotrichosis 1 (MUHH1; OMIM 146550), a rare monogenic condition characterized by the development of sparse, twisted hair or complete hair loss, is the consequence of mutations located in the hairless (HR) gene. We have identified a 68-year-old Hungarian woman affected by alopecia universalis and limb deformities of all four extremities. Direct sequencing of the coding regions of the HR gene revealed a novel missense mutation in the third exon of the HR gene (c.974G/A, p.Gly325Asp). The affected family member carried the mutation in a heterozygous form, while the only available, clinically unaffected family member (the son of the patient) and the unrelated controls carried the wild type sequence. The association between the presence of HR gene mutations and the development of alopecia is well-established, however, further studies are needed to elucidate the putative role of this novel HR mutation in the development of limb deformities.
journal_name
Arch Dermatol Resjournal_title
Archives of dermatological researchauthors
Farkas K,Nagy N,Kinyó A,Kemény L,Széll Mdoi
10.1007/s00403-012-1244-2subject
Has Abstractpub_date
2012-10-01 00:00:00pages
679-81issue
8eissn
0340-3696issn
1432-069Xjournal_volume
304pub_type
杂志文章abstract：:The expression and location of the Ki-67 antigen was investigated in 62 basal cell carcinomas (BCC) using immunostaining techniques (PAP and APAAP) on cryostat sections. The tumor samples were classified into three groups according to microarchitecture (nodular, superficial or fibrosing). The Ki-67 growth fraction dis...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/BF00371599
更新日期：1993-01-01 00:00:00
abstract：:Psoriasis is now recognized as an immune-mediated inflammatory dermatosis with increased risk for metabolic syndrome, its individual components, and cardiovascular disease. We quantitatively estimated malondialdehyde (MDA), lipoprotein-a (LP-a), lipoprotein ratios, comprehensive lipid tetrad index (CLTI), and atheroge...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/s00403-019-01896-y
更新日期：2019-05-01 00:00:00
abstract：:Typical confluent lesions of lichen planus were transplanted onto nude mice and cultured in organ culture. The characteristic histologic appearance of lichen planus disappeared after grafting and became similar to normal skin within 6 weeks on nude mice; the dense lymphocyte infiltrate in dermis disappeared, the basal...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/BF00412684
更新日期：1988-01-01 00:00:00
abstract：:Conditions of oxidative stress lead to down-regulation of glutathione (GSH) and glutathione peroxidase (GPO), which could be responsible for tyrosinase induction in pigment cells. To address this question, the effects of selective modulation of GSH metabolism on melanogenic parameters of slightly and highly melanized ...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/s004030050202
更新日期：1997-05-01 00:00:00
abstract：:Exposure to a dry environment leads to depletion of water from the peripheral stratum corneum layers in a process dependent on the relative humidity (RH) and the intrinsic properties of the tissue. We hypothesized that by modulating the water content of the stratum corneum in the surface layers, RH effects the rate of...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/s004030100257
更新日期：2001-09-01 00:00:00
abstract：:The function of microphages has been studied in two patients with chronic pyoderma vegetans by in vitro determination of phagocytosis as well as chemotaxis. The results showed a striking decrease in the chemotactic activity of the neutrophil granulocytes, a reduced phagocytosis of Candida albicans and Staphylococcus a...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：
更新日期：1978-09-28 00:00:00
abstract：:Serotonin is a monoamine acting as a neuromediator in the central and peripheral nervous system. Recently, serotonin has also been shown to influence T- and B-cell function. The serotonin transporter is central in the regulation of the serotonergic system and widely expressed on cells of the immune system. A functiona...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/s00403-008-0909-3
更新日期：2009-07-01 00:00:00
abstract：:The pathogenetic mechanisms in vitiligo have not been completely clarified. One of the major hypotheses in the pathogenesis of vitiligo is the oxidative stress hypothesis. The active or stable phase of vitiligo is defined on the basis of the progression or appearance of new lesions in the last 3 months and the absence...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/s00403-006-0680-2
更新日期：2006-09-01 00:00:00
abstract：:Permeation enhancers are defined as substances that are capable of promoting penetration of drugs into skin and transdermal therapeutic systems offers a more reliable mean of administering drug through the skin. Skin is a natural barrier so it is necessary to employ enhancement strategies to improve topical bioavailab...
journal_title：Archives of dermatological research
pub_type： 杂志文章,评审
doi：10.1007/s00403-014-1445-y
更新日期：2014-07-01 00:00:00
abstract：:Artificial light at night (LAN) is a pervasive phenomenon in today's society, and the detrimental consequences of LAN exposure are becoming apparent. LAN is associated with the increased incidence of metabolic disorders, cancers, mood alterations, and immune dysfunction in mammals. Consequently, we examined the effect...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/s00403-019-01935-8
更新日期：2019-09-01 00:00:00
abstract：:CCN2 plays an important role in the pathogenesis of hypertrophic scars (HTSs). Although CCN2 is involved in many fibroproliferative events, the CCN2 induction signaling pathway in HTSs is yet to be elucidated. Here, we first investigated the effect of the mitogen-activated protein kinases (MAPKs) on CCN2-induced α-smo...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/s00403-013-1334-9
更新日期：2013-07-01 00:00:00
abstract：:Intercellular adhesion molecule-1 (ICAM-1) is regularly expressed or inducible on all major cutaneous cell populations including Langerhans cells, keratinocytes, endothelial cells and dermal fibroblasts. ICAM-1 is induced in the skin under inflammatory conditions and plays an important role in the activation of T cell...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/s004030050339
更新日期：1998-09-01 00:00:00
abstract：:The deposition of immunoglobulin (Ig) at the dermo-epidermal junction (DEJ) of the skin, frequently observed in autoimmune mouse strains, is similar to that seen in patients with systemic lupus erythematosus (SLE). MRL/Mp-lpr/lpr (MRL/lpr) mice have an autosomal recessive mutant gene, lpr, which produces massive T-cel...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/BF00370818
更新日期：1993-01-01 00:00:00
abstract：:Enhanced susceptibility to viral infections has been reported repeatedly in atopic dermatitis (AD). A difference in the capacity to produce interferons (IFN) in response to viral antigens may be the cause. In the present study we investigated the in vitro IFN production of leukocytes from AD patients in response to di...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/BF00585921
更新日期：1987-01-01 00:00:00
abstract：:The effect of theophylline, an inhibitor of phosphodiesterase, on tyrosine (Tyr) transport across cell membrane was studied using cultured B-16 mouse melanoma cells. 1.5 mM Theophylline in culture medium increased Tyr uptake velocity in linear fashion up to 36 h, after which it reached a plateau at which the cells sho...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/BF00414014
更新日期：1984-01-01 00:00:00
abstract：:A 61-year old woman developed a tumourous nodule in her left leg. Fifteen years ago a similar tumour had been removed in the same localization. Histological examination performed on biopsy material showed bundles of predominantly fusiform tumour cells with nuclear pleomorphism and many mitotic figures. Electron micros...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/BF00446437
更新日期：1978-11-10 00:00:00
abstract：:In human skin, epidermal differentiation occurs in two ways: normal differentiation, characterized by keratin 10 expression, and alternative differentiation. Alternative differentiation can be hyperproliferation-associated differentiation (expression of keratin 16) or the reinduction of an embryonic type of differenti...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/pl00007455
更新日期：2000-01-01 00:00:00
abstract：:Bradykinin has long been postulated to have a major role in physiologic human pain production. We have developed a method to systematically quantify the algogenic response to bradykinin in human skin by the direct application of bradykinin to suction blister bases. After determination of the pain threshold to bradykin...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/BF00371917
更新日期：1992-01-01 00:00:00
abstract：:A suction blister device with a sensitive thermometer and with a temperature regulator was constructed. Utilizing this device, it was demonstrated that the cold challenge induces an increase in the skin temperature in cold urticaria patients during the cold challenge and a simultaneous release of histamine into the su...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/BF00404624
更新日期：1984-01-01 00:00:00
abstract：:Sixteen malignant melanoma patients with different levels of tumor progression, two patients with melanoma in situ (Clark 10 two bronchogenic carcinoma patients and nine healthy controls were tested by means of the leukocyte adherence inhibition (LAI) test to assess the function of their cellular mediated immunity. Bl...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/BF00403801
更新日期：1980-01-01 00:00:00
abstract：:Tranilast is used clinically as a drug for hypertrophic scars or keloids. Recently, the roles of keratinocytes in the pathogenesis of those conditions have been noted. Therefore, we first examined the effect of tranilast on the cell growth of normal human keratinocytes. A cell growth assay demonstrated that the cell n...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/s00403-012-1291-8
更新日期：2012-11-01 00:00:00
abstract：:The presence, distribution and cellular localization of tumour necrosis factor-alpha (TNF alpha) were investigated in normal human and murine epidermis using immunohistological and immunoelectron microscopic methods with monoclonal and polyclonal antibodies. The immunostaining revealed an intercellular plasma membrane...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/BF00372709
更新日期：1992-01-01 00:00:00
abstract：:The aim of this study was to investigate the presence and density of the nerve fibre-marker protein gene product 9.5 (PGP 9.5), with immunohistochemistry, in skin from patients with hidradenitis suppurativa (HS). Punch biopsies were obtained from 16 patients; 10 with involvement of the groin and six with axillary dise...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/s00403-010-1028-5
更新日期：2010-08-01 00:00:00
abstract：:Human skin epithelial-like cells (NCTC strain 2544) were grown in NCTC 135 medium. Neuraminidase and hyaluronidase were added to the growth medium. Cells were incubated 96 h at 36 degrees C. Growth rate and viscosity of cell suspensions were measured after forming single cells mechanically (mopping). With addition of ...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/BF00455372
更新日期：1978-02-15 00:00:00
abstract：:This study probes the extent of coupling between the reversal of epidermal hyperproliferation induced by essential fatty acid (EFA) deficiency in guinea pigs, the hydrolysis of epidermal phosphatidylinositol 4,5-bisphosphate (PtdIns4,5P2), and the rapid formation of inositol triphosphate (InsP3). Our data revealed tha...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/BF00440602
更新日期：1988-01-01 00:00:00
abstract：:The stratum corneum, which is the outermost layer of the skin, functions as an important barrier to maintain biological homeostasis. The multilamellar structures formed by intercellular lipids present in the stratum corneum are considered to play an important role in barrier function. Most intercellular lipids are unb...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/s004030000160
更新日期：2000-09-01 00:00:00
abstract：:To elucidate the interaction between melanoma and its matrix, we cultured B16 murine melanoma cells on and in type I collagen gel and evaluated specified functions of melanoma cells; tyrosinase activity and melanin-synthesizing capacity. Proliferation of cells cultured in these environments was markedly suppressed com...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/BF00371647
更新日期：1990-01-01 00:00:00
abstract：:Tympanic (Tty), esophageal (Tes), forehead, and hand skin temperatures, as well as the forehead evaporation rate were recorded in six men (four suffering from rosacea and two healthy controls) before, during, and after 1 h of warm bath (38 degrees-39 degrees C). During the last 30 min of the bath, the subject's face w...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/BF00424276
更新日期：1989-01-01 00:00:00
abstract：:Interleukin-6-like (IL-6-like) immunoreactivity was sought in inflamed and normal human skin using the same immunohistochemical technique as for detection of neuropeptides. Such immunoreactivity was found in dermal and in a few intraepidermal nerve-like fibres in biopsy specimens from inflamed skin from patients with ...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/BF02505230
更新日期：1996-07-01 00:00:00
abstract：:The treatment of epidermolysis bullosa acquisita (EBA) is difficult and often disappointing. We report on the successful treatment of two EBA patients with colchicine. The drug was administered orally at an initial dose of 2 mg/day. After 2 weeks of therapy a dramatic improvement was observed. Most of the cutaneous an...
journal_title：Archives of dermatological research
pub_type： 杂志文章
doi：10.1007/BF00375841
更新日期：1994-01-01 00:00:00
