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Chandar Kumar, Shen Song, Lin Jiang, Xiaohong He, Qianjun Zhao, Yabin Pu, Kanwar Kumar Malhi, Asghar Ali Kamboh, Yuehui Ma
The Tibetan cashmere goat is one of the main goat breeds used by people living in the plateau. It exhibits the distinct phenotypic characteristics observed in lowland goats, allowing them to adapt to the challenging conditions at high altitudes. It provides an ideal model for understanding the genetic mechanisms underlying high-altitude adaptation and hypoxia-related diseases. Our previous exome sequencing of five Chinese cashmere breeds revealed a candidate gene, DSG3 (Desmoglein 3 ), responsible for the high-altitude adaptation of the Tibetan goat...
2018: Frontiers in Genetics
Islam Saad, Suzan Salem
AIM: The current study will attempt to throw light on the role of desmoglein 1 and desmoglein 3 in the pathogenesis of erosive lichen planus and their response to topical application of tacrolimus. MATERIALS AND METHODS: Twenty patients with erosive oral lichen planus received tacrolimus ointment three times daily for eight weeks. Assessments using the clinical score and a visual analog scale were recorded at each visit. Serum concentrations of circulating autoantibodies to desmoglein 1 and desmoglein 3 will be determined by enzyme-linked immunosorbent assay (ELISA) at baseline, four weeks and eight weeks after treatment...
October 1, 2018: Journal of Contemporary Dental Practice
Vivien Hebert, Claire Boulard, Estelle Houivet, Sophie Duvert Lehembre, Luca Borradori, Rocco Della Torre, Claudio Feliciani, Luca Fania, Giovanna Zambruno, Diana B Camaioni, Biago Didona, Branka Marinovic, Enno Schmidt, Nina Schumacher, Christian Hünefeld, Stefan Schanz, Johannes Steffen Kern, Silke Hofmann, Anne Charlotte Bouyeure, Catherine Picard-Dahan, Catherine Prost-Squarcioni, Frederic Caux, Marina Alexandre, Saskia Ingen-Housz-Oro, Martine Bagot, Emmanuelle Tancrede-Bohin, Jean David Bouaziz, Nathalie Franck, Pierre Vabres, Bruno Labeille, Marie Aleth Richard, Emmanuel Delaporte, Alain Dupuy, Michel D'Incan, Gaelle Quereux, François Skowro, Carle Paul, Cristina Bulai Livideanu, Marie Beylot-Barry, Marie Sylvie Doutre, Martine Avenel-Audran, Christophe Bedane, Philippe Bernard, Laurent Machet, Hervé Maillard, Denis Jullien, Sebastien Debarbieux, Bruno Sassolas, Laurent Misery, Claire Abasq, Olivier Dereure, Philippe Lagoutte, Vincent Ferranti, Victoria P Werth, Dedee F Murrell, Michael Hertl, Jacques Benichou, Pascal Joly
The Pemphigus Disease Area Index (PDAI) and Autoimmune Bullous Skin Disorder Intensity-Score (ABSIS) scores have been proposed to provide an objective measure of pemphigus activity. These scores have been evaluated only on already treated patients mainly with mild to moderate activity. The objective was to assess the interrater reliability of ABSIS and PDAI scores and their correlation with other severity markers in a large international study. Consecutive patients with newly diagnosed pemphigus were enrolled in 31 centers...
October 6, 2018: Journal of Investigative Dermatology
Emmanuelle Jeannot, Alexandre Harlé, Allyson Holmes, Xavier Sastre-Garau
Anal carcinomas (AC) are associated with human papillomavirus (HPV) DNA sequences, but little is known about the physical state of the viral genome in carcinoma cells. To define the integration status and gene(s) targeted by viral insertions in AC, tumor DNAs extracted from 35 tumor specimen samples in patients with HPV16-associated invasive carcinoma were analyzed using the detection of integrated papillomavirus sequences-PCR approach. The genomic status at integration sites was assessed using comparative genomic hybridization-array assay and gene expression using reverse transcription quantitative PCR (RT-qPCR)...
December 2018: Genes, Chromosomes & Cancer
M Sar-Pomian, J Czuwara, L Rudnicka, M Olszewska
BACKGROUND: Pemphigus-associated alopecia is considered rare, and has not been studied in detail. AIM: To evaluate the clinical and immunological characteristics of patients with pemphigus-associated alopecia. METHODS: This prospective observational study included 80 consecutive patients with histopathologically and immunopathologically confirmed pemphigus, of whom 11 (13.8%) were found to have pemphigus-associated alopecia. Alopecia was observed in 11/52 patients with pemphigus and scalp involvement: [0/28 (35...
September 24, 2018: Clinical and Experimental Dermatology
Shin-Ichi Funahashi, Shigeto Kawai, Etsuko Fujii, Kenji Taniguchi, Kiyotaka Nakano, Shumpei Ishikawa, Hiroyuki Aburatani, Masami Suzuki
It is ideal for the target antigen of a cytotoxic therapeutic antibody against cancer to be cancer-specific, but such antigens are rare. Thus an alternative strategy for target selection is necessary. DSG3 is highly expressed in lung squamous cell carcinoma, while it is well known that anti-DSG3 antibodies cause pemphigus vulgaris, an autoimmune disease. We evaluated DSG3 as a novel target by selecting an epitope that exerts efficacy against cancer with no pathogenic effects in normal tissues. Pathogenic anti-DSG3 antibodies induce skin blisters by inihibiting the cell-cell interaction in a Ca2+-dependent manner...
September 18, 2018: Journal of Biochemistry
Maxi Hofrichter, Jenny Dworschak, Shirin Emtenani, Jana Langenhan, Fanny Weiß, Lars Komorowski, Detlef Zillikens, Winfried Stöcker, Christian Probst, Enno Schmidt, Stephanie Goletz
Pemphigus vulgaris (PV) is a potentially life-threatening autoimmune blistering disease which is associated with autoantibodies directed against two desmosomal proteins, desmoglein (Dsg) 3 and 1. Treatment of PV is rather challenging and relies on the long-term use of systemic corticosteroids and additional immunosuppressants. More recently, autoantibody-depleting therapies such as rituximab, high-dose intravenous immunoglobulins, and immunoadsorption were shown to be valuable treatment options in PV. Specific removal of pathogenic autoantibodies would further increase efficacy and usability of immunoadsorption...
2018: Frontiers in Immunology
Nina van Beek, Detlef Zillikens, Enno Schmidt
Blasenbildende Autoimmundermatosen (BAIDs) sind eine heterogene Gruppe seltener Erkrankungen, die klinisch durch Erosionen und/oder Blasen an Haut und Schleimhäuten charakterisiert sind. BAIDs können in zwei Gruppen eingeteilt werden: Pemphigus-Erkrankungen, die durch intraepidermale Blasenbildung und Autoantikörper gegen desmosomale Proteine wie Desmoglein (Dsg) 1, Dsg3 und Mitglieder der Plakin-Familie charakterisiert sind, sowie subepidermale BAIDs, die Pemphigoid-Erkrankungen und die Dermatitis herpetiformis umfassen...
September 2018: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
Nina van Beek, Detlef Zillikens, Enno Schmidt
Autoimmune bullous disorders (AIBDs) are a heterogeneous group of rare diseases clinically characterized by erosions and/or blisters on the skin and mucous membranes. AIBDs can be categorized into two groups: pemphigus diseases, characterized by intraepidermal blistering and autoantibodies against desmosomal proteins such as desmoglein (Dsg) 1, Dsg3, members of the plakin family, and subepidermal AIBDs, comprised of pemphigoid diseases and dermatitis herpetiformis. Autoantibodies in dermatitis herpetiformis target transglutaminases 2 and 3, while in pemphigoid disease, autoantibodies are directed against structural proteins of the dermal-epidermal junction...
September 2018: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
Justin M Hintze, Yourka D Tchoukalova, Ramachandra Sista, Manisha K Shah, Nan Zhang, David G Lott
INTRODUCTION: Reconstruction of respiratory epithelium is critical for the fabrication of bioengineered airway implants. Epithelial differentiation is typically achieved using bovine pituitary extract (BPE). Due to the xenogenic nature and undefined composition of BPE, an alternative for human clinical applications, devoid of BPE, must be developed. The goal of this study was to develop two different BPE-free media, with and without select pituitary hormone (PH), which could initiate epithelial differentiation for use in human implantation...
September 18, 2018: Biochemical and Biophysical Research Communications
Michael McFarlane, Ayesha Azam, David Snead, Ben Disney
Pemphigus vulgaris (PV) is a rare autoimmune bullous disease which affects the skin and mucous membranes. Oesophageal involvement is rare and has previously been limited to case reports and case series. A recent large case series of 477 PV patients showed that 26/477 (5.4%) had symptomatic oesophageal involvement. We present the case of a 54-year-old Somalian lady with a 10-year history of cutaneous PV, currently in remission, who developed dysphagia and odynophagia and was subsequently found to have oesophageal PV involvement with multiple flaccid bullae which were positive for anti-DSG3 antibodies on in-direct immunofluorescence...
August 23, 2018: Clinical Journal of Gastroenterology
Kyle T Amber, Manuel Valdebran, Sergei A Grando
Paraneoplastic autoimmune multiorgan syndrome (PAMS) is characterized by a heterogenous group of signs and symptoms including severe desquamative stomatitis, a polymorphous cutaneous eruption, humoral immunity against plakin proteins, contribution of cell-mediated autoimmunity and commonly a progressive respiratory failure. Autoantibodies in PAMS target a wide array of antigens including plakins, cadherins, alpha-2-macroglobulin like 1 (A2ML1), BP180, plakophilin-3, and several neuromuscular antigens. Originally described as paraneoplastic pemphigus in 1990 due to some of its clinical and immunologic similarities to classic pemphigus (pemphigus vulgaris and pemphigus foliaceus), PAMS is a multiorganopathy with several distinct features from these classic forms of pemphigus...
October 2018: Autoimmunity Reviews
Ayşe Öktem, Yıldız Hayran, Pınar İncel Uysal, Ahmet Uğur Atılan, Başak Yalçın
According to the "desmoglein compensation theory," anti-Dsg1 and anti-Dsg3 profiles are crucial for the clinical outcome of pemphigus vulgaris. However, recent studies have highlighted several cases with an incompatibility between the antibody profile and clinical manifestation. Data of 37 patients who had been diagnosed pemphigus vulgaris in our Department between January 2014-June 2016 were retrieved from our clinical database. Patients with ABSIS skin involvement scores, oral mucosa extent and severity scores, anti-Dsg1 and Dsg3 antibody profile were included in this retrospective study...
June 2018: Acta Dermatovenerologica Croatica: ADC
Maryam Koopai, Hossein Mortazavi, Alireza Khatami, Zohreh Khodashenas
Anti-desmoglein (anti-Dsg) ELISA and indirect immunofluorescence (IIF) are used for the diagnosis of pemphigus vulgaris (PV). The value of salivary ELISA, serum ELISA, and IIF in the diagnosis of PV, and the correlation of salivary anti-Dsg1 and anti-Dsg3 ELISA with serum ELISA, serum and salivary IIF titers, and disease severity in patients with PV were evaluated. Fifty newly diagnosed patients with PV were enrolled in the study. Demographic data and disease-severity scores were recorded for each patient. Anti-Dsg1 and anti-Dsg3 ELISA and IIF were performed on both serum and salivary samples...
June 2018: Acta Dermatovenerologica Croatica: ADC
Ehsanul Hoque Apu, Saad Ullah Akram, Jouni Rissanen, Hong Wan, Tuula Salo
Desmoglein 3 (Dsg3) is an adhesion receptor in desmosomes, but its role in carcinoma cell migration and invasion is mostly unknown. Our aim was to quantitatively analyse the motion of Dsg3-modified carcinoma cells in 2D settings and in 3D within tumour microenvironment mimicking (TMEM) matrices. We tested mutant constructs of C-terminally truncated Dsg3 (∆238 and ∆560), overexpressed full-length (FL) Dsg3, and empty vector control (Ct) of buccal mucosa squamous cell carcinoma (SqCC/Y1) cells. We captured live cell images and analysed migration velocities and accumulated and Euclidean distances...
September 15, 2018: Experimental Cell Research
Elisabeth Schlögl, Mariya Y Radeva, Franziska Vielmuth, Camilla Schinner, Jens Waschke, Volker Spindler
Pemphigus vulgaris (PV) is a potentially lethal autoimmune disease characterized by blister formation of the skin and mucous membranes and is caused by autoantibodies against desmoglein (Dsg) 1 and Dsg3. Dsg1 and Dsg3 are linked to keratin filaments in desmosomes, adhering junctions abundant in tissues exposed to high levels of mechanical stress. The binding of the autoantibodies leads to internalization of Dsg3 and a collapse of the keratin cytoskeleton-yet, the relevance and interdependence of these changes for loss of cell-cell adhesion and blistering is poorly understood...
2018: Frontiers in Immunology
Kyle T Amber, Manuel Valdebran, Sergei A Grando
Pemphigus vulgaris (PV) is a potentially life-threatening mucocutaneous autoimmune blistering disease. Patients develop non-healing erosions and blisters due to cell-cell detachment of keratinocytes (acantholysis), with subsequent suprabasal intraepidermal splitting. Identified almost 30 years ago, desmoglein-3 (Dsg3), a Ca2+ -dependent cell adhesion molecule belonging to the cadherin family, has been considered the "primary" autoantigen in PV. Proteomic studies have identified numerous autoantibodies in patients with PV that have known roles in the physiology and cell adhesion of keratinocytes...
2018: Frontiers in Immunology
Rachel R Xuan, Anes Yang, Dedee F Murrell
The immunoassays that are available for the serological diagnosis of the more common subtypes of autoimmune blistering diseases such as pemphigus vulgaris (PV) and pemphigus foliaceus (PF) include enzyme-linked immunosorbent assay (ELISA) testing to specific antigens desmoglein (Dsg)1 and Dsg3, direct immunofluorescence (DIF), indirect immunofluorescence (IIF), and immunoblotting. A review of the literature on the biochip assay was conducted. Six studies investigated the validity of a new biochip, mosaic-based, IIF test in patients with pemphigus and demonstrated its relatively high sensitivity and specificity (Dsg3: 97...
June 2018: International Journal of Women's Dermatology
Qingxiu Liu, Feiyi Cui, Menglei Wang, Hao Xiong, Xiaoming Peng, Liuping Liang, Li Li, Jing Zhang, Xuebiao Peng, Kang Zeng
Expression of microRNA-338-3p (miR-338-3p) was aberrantly elevated in pemphigus vulgaris (PV), although its role in PV is still unknown. The present study investigated the functional role and possible molecular mechanisms of miR-338-3p in PV. Reverse transcription-quantitative polymerase chain reaction (RT-qPCR) was performed to detect miR-338-3p expression in peripheral blood mononuclear cells (PBMCs) from patients with PV. Correlation with disease severity and anti-desmoglein 3 antibody (anti-Dsg3) titers were analyzed in patients with PV...
July 2018: Molecular Medicine Reports
Federica Giurdanella, Albertine M Nijenhuis, Gilles F H Diercks, Marcel F Jonkman, Hendri H Pas
The serological diagnosis of pemphigus relies on the detection of IgG autoantibodies directed against the epithelial cell surface by indirect immunofluorescence (IIF) on monkey esophagus and against desmoglein 1 (Dsg1) and Dsg3 by ELISA. Although being highly sensitive and specific tools, discrepancies can occur. It is not uncommon that sera testing positive by ELISA give a negative result by IIF and vice versa . This brings diagnostic challenges wherein pemphigus has to be ascertained or ruled out, especially when no biopsy is available...
2018: Frontiers in Immunology
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