This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015 ...

Shop a large selection of products and learn more about Desmocollin-1 Rat anti-Human, Mouse, Alexa Fluor 350, Clone: 772906, R 100ug; Alexa Fluor 350.

Order Desmocollin 1 ELISA Kits for many Reactivities. Human, Mouse and more. Compare Desmocollin 1 ELISA Kits and find the right product on antibodies-online.com.

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FUNCTION: This gene encodes a member of the desmocollin protein subfamily. Desmocollins are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015 ...

FUNCTION: This gene encodes a member of the desmocollin protein subfamily. Desmocollins are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015 ...

Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Human Desmocollin 1 (DSC1) in samples from Tissue homogenates, cell lysates and other biological fluids with no significant corss-reactivity with analogues from other species ...

Desmocollin 2小鼠多克隆抗体(ab72792)可与人样本反应并经WB实验严格验证，被1篇文献引用。所有产品均提供质保服务，中国75%以上现货。

RDI-PRO10704 Cadherin E 6F9 1ml €350.00. RDI-PRO10028 Cadherin E 5H9 1ml €350.00. RDI-TRK5C5 Caldesmon 12B5 1mg €300.00. RDI- Calmodulin RDI- Calpain (u and m reactive antibodies). RDI- Calpastatin 200ul €350.00. RDI-Catenins Catenins (see specs for monoclonals against. alpha-catenin, beta-catenin and gamma-catenin/plakoglobin) RDI-CHYMOTabm Chymotrypsin CHYMOT 62 1mg €375.00. RDI-PRO61018 Complement C3a H13 50ug €300.00. RDI-PRO61019 Complement C3b-alpha H206 50ug €300.00. RDI-PRO61020 Complement C3b-beta H11 50ug €300.00. RDI-PRO61021 Complement C5 HCC 5.1 50ug €300.00. RDI-CBL192 Complement 5b neoepitope HC5b.1 50ug €300.00. RDI-TRK4C7- Corticoliberin 2 clones 1mg €300.00. RDI-TRK4C28- Cross Reactive Protein (CRP) 7 clones 1mg €300.00 each. RDI-CYCLIND- Cyclin D1, D2 & D3 antibodies 3+ clones & polyclonals. RDI-TRK3C13 Cyclosporine A CSZ.22 1mg €300.00. RDI-PRO65192 Desmocollin 1 DSC1-U100 5ml €300.00. RDI-PRO610120 Desmocollin 2 rabbit polyclonal 100ul ...

The PDB archive contains information about experimentally-determined structures of proteins, nucleic acids, and complex assemblies. As a member of the wwPDB, the RCSB PDB curates and annotates PDB data according to agreed upon standards. The RCSB PDB also provides a variety of tools and resources. Users can perform simple and advanced searches based on annotations relating to sequence, structure and function. These molecules are visualized, downloaded, and analyzed by users who range from students to specialized scientists.

Complete information for DSC3 gene (Protein Coding), Desmocollin 3, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium

CBD. Cadherin Binding Domain. JMD. Juxta Membrane Domain. CH٢/CH٣ اﻟﻧﻘﻲ. ٥. دﻗﺎﺋق ﻓﻲ ﻛﻝ ﻣرة. ، ﻻزاﻟﺔ. اﻟﺷﻣﻊ ﻣﻧﻬﺎ. -٦. ﺛم ﻣررت اﻟﺷراﺋﺢ ﻋﻠﻰ. ﺛﻼﺛﺔ ﺣﻣﺎﻣﺎت ﻣن اﻟﻛﺣوﻝ. ﺍﻟﻤﺘﺒﻠﻭﺭ ﺍﻟﺨﺎﻡ. ﺍ. ﻟﻐﺭﺍﻓﻴﺕ ﺍﻟﻤﺘﺒﻠﻭﺭ ﺍﻟﻁﺒﻴﻌﻲ ﻤﻊ ﻤﺤﺘﻭﻯ ﻜﺭﺒـﻭﻨﻲ ﻤﺨﺼـﺏ. (. ﻤﻀﺎﻓﺔ. ) ﻨﻘﻲ ﻭﻤﺼﻘﻭل . ٢٥٠٤. ﻤﻊ ﺍﺴﺘﺜﻨﺎﺀ ﺸﻤﻊ ﻨﺼﻑ. ﻤﺘﻔﺤﻡ، ﻭﻏﻴﺭﻫﺎ ﻤﻥ ﺍﻟ. ﺸﻤﻊ ﺍﻟﻤﻌﺩﻨﻲ ﻭﺍﻟﻤﻨﺘﺠﺎﺕ ﺍﻟﺘﻲ. ﻴ. ﺴﺘﺤﺼل. ﻋﻠﻴﻬﺎ ﺒﺎﻟﺘﺭﻜﻴﺏ ﺍﻻﺼﻁﻨﺎﻋﻲ ﺃﻭ ﺒﺄﻱ ﻁﺭﻴﻘﺔ ﻜﺎﻨﺕ ﻤﻠﻭﻨـﺔ ﺃﻡ. ﻻ . ٢٧١٢ ﻪﻴﺭﻜﺴ لﺌﺍﻭﺴ ﻭﺍ ﺱﺒﺩ ،ﺔﻬﻜﻨﻤ ﻭﺍ ﻪﻨﻭﻠﻤ ﺕﺎﻴﺭﻜﺴ. ﺍﺩﻋ ؛. Parties to the ...

TY - JOUR. T1 - The detection of IgG and IgA autoantibodies to desmocollins 1-3 by enzyme-linked immunosorbent assays using baculovirus-expressed proteins, in atypical pemphigus but not in typical pemphigus. AU - Hisamatsu, Y.. AU - Amagai, M.. AU - Garrod, D. R.. AU - Kanzaki, T.. AU - Hashimoto, T.. N1 - Copyright: Copyright 2008 Elsevier B.V., All rights reserved.. PY - 2004/7. Y1 - 2004/7. N2 - Background: We have shown previously that human desmocollin (Dsc) 1 is recognized by IgA autoantibodtes of subcorneal pustular dermatosis (SPD) type IgA pemphigus. However, the presence of IgG anti-Dsc autoantibodies is still controversial, and antibodies to Dsc2 and Dsc3 have not been clearly identified, Objectives: To investigate this by producing recombinant proteins consisting of the entire extracellular domains of human Dsc1, 2 and 3 in baculovirus, and to use them to establish an enzyme-linked immunosorbent assay (ELISA). Methods: By this ELISA, we examined in total 165 cases of various types of ...

AIMS: Recent immunohistochemical studies observed the loss of plakoglobin (PG) from the intercalated disc (ID) as a hallmark of arrhythmogenic right ventricular cardiomyopathy (ARVC), suggesting a final common pathway for this disease. However, the underlying molecular processes are poorly understood. METHODS AND RESULTS: We have identified novel mutations in the desmosomal cadherin desmocollin 2 (DSC2 R203C, L229X, T275M, and G371fsX378). The two missense mutations (DSC2 R203C and T275M) have been functionally characterized, together with a previously reported frameshift variant (DSC2 A897fsX900), to examine their pathogenic potential towards PGs functions at the ID. The three mutant proteins were transiently expressed in various cellular systems and assayed for expression, processing, localization, and binding to other desmosomal components in comparison to wild-type DSC2a protein. The two missense mutations showed defects in proteolytic cleavage, a process which is required for the functional

Desmosomes are molecular complexes of cell adhesion proteins and linking proteins that attach the cell surface adhesion proteins to intracellularkeratin cytoskeletal filaments.. The cell adhesion proteins of the desmosome, desmoglein and desmocollin, are members of the cadherin family of cell adhesion molecules. They aretransmembrane proteins that bridge the space between adjacent epithelial cellsby way of homophilic binding of their extracellular domains to other desmosomal cadherins on the adjacent cell. Both have five extracellular domains, and have calcium-binding motifs.. The extracellular domain of the desmosome is called the Extracellular Core Domain (ECD) or the Desmoglea, and is bisected by an electron-dense midline where the desmoglein and desmocollin proteins bind to each other. These proteins can bind in a W, S, or λ manner.. On the cytoplasmic side of the plasma membrane, there are two dense structures called the Outer Dense Plaque (ODP) and the Inner Dense Plaque (IDP). These are ...

Results DSC1-3 mRNAs were downregulated in lung cancer cells, and the expression was restored in four out of seven cell lines, respectively, after 5-aza-2′-deoxycytidine treatment. A heterogeneous methylation pattern was detected by bisulphite sequencing in exon 1 of DSC2 and DSC3. In 199 patients with primary lung cancer, we found that lower protein expression of DSC1 was significantly linked to worse tumour differentiation (p=0.017), DSC3 proteins were more expressed in squamous cell carcinoma (SCC) compared with adenocarcinoma (ADC) (p,0.001), and reduced expression of DSC1 and DSC3 was significantly correlated with poor clinical outcome (p=0.045 and p=0.007, respectively).. ...

cytoplasm, nucleus, P-body, cadherin binding, RNA binding, negative regulation of gene expression, negative regulation of growth, negative regulation of receptor signaling pathway via JAK-STAT, positive regulation of apoptotic process, positive regulation of transcription, DNA-templated

DSC是聚合物分析的一大利器，像熔点，结晶温度，玻璃化转变温度等聚合物的关键特性都可以由DSC测得。但是，想要用好这个利器并不那么简单。本次讲座就向大家介绍DSC测试的秘籍，告诉大家如何进行从测试到分析到解谱的聚合物DSC一条龙分析。在你面对样品无所适从时，如何用SmartMode帮你设计测试方案；在你面对结果无从下手时，如何用AutoEvaluation帮你进行分析；在你面对图谱一脸迷茫的时候，如何用Identify帮你辨别样品。这些内容，你都可以从这次讲座里学到 ...

To date, much of the work on desmosomes in human disease has focused on their role in maintaining heart and skin integrity, where desmosomal defects are associated with cardiomyopathy and skin blistering conditions respectively [23]. More recently, a potential role for desmosomes in cancer progression has been suggested based on a variety of experimental clues [24]. For example, in vitro cell culture assays demonstrated that inhibiting desmosomal adhesion via blocking peptides caused morphological disorganization [25] while introduction of desmosomal components into a nonadhesive cell line resulted in increased cell aggregation and reduced cellular invasion in vitro [26]. These studies suggested that loss of desmosomal function might contribute to tumor invasion and malignancy, consistent with their role in maintaining cellular adhesion. (Our attempts to perform similar in vitro experiments using cell lines derived from RT2 tumors [βTCs] were hindered by the fact that βTC cell lines express ...

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Inherited cardiomyopathies are genetically heterogeneous disorders of the heart which often develop during adolescence or early adult life [|

Cadherins are a family of transmembrane proteins formed from multiple repeats of cadherin-specific motif (a recurrent molecular sequence) and also share a large extracellular domain. Cadherins are classified into two groups: Classical Cadherins and Protocadherins. The main difference between the two groups of cadherins is the classical cadherins contain five cadherin repeats with the third (EC3) and the fifth (EC5) repeat having very specific features. The protocadherins do not share the same features of the EC3 and EC5 units; are longer than five repeats long; and the sequences are very similar to each other. As a result of these differences, the classical cadherins are very specific and do not adhere to a large number of different ECM proteins, whereas protocadherins are much more flexible in their attachments. Classical cadherins are known to only be found in vertebrates so far, while protocadherins are found in planaria, hydra, Drosophila, and various mammals. Cadherins rely heavily on ...

DSC3 - DSC3 (Myc-DDK-tagged)-Human desmocollin 3 (DSC3), transcript variant Dsc3b available for purchase from OriGene - Your Gene Company.

Cadherins are a group of proteins that help cells stick together. They are the main components of certain types of junctions between cells. These connections help define how a cell will be integrated into a structure, like a layer of skin or an organ.

TY - JOUR. T1 - Arrhythmogenic right ventricular dysplasia/cardiomyopathy - Three decades of progress. AU - Calkins, Hugh. PY - 2015. Y1 - 2015. N2 - Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a rare, inherited cardiomyopathy characterized by ventricular arrhythmias, sudden cardiac death, and right ventricular dysfunction. Since the first major description of this disease, much has been learned about ARVD/C. One of the main breakthroughs was the discovery that mutations in desmosomal proteins are the most frequent genetic basis of ARVD/C. Today, genetic testing plays an important role in both the diagnosis of ARVD/C and cascade family screening. Much has also been learned concerning the optimal approaches to diagnosis. The 2010 Task Force Diagnostic criteria for ARVD/C represent the standard for diagnosis today. We have also learned much about the importance of proband status and the 24-h PVC count to assess sudden death risk, and the importance of exercise both in the ...

We read with interest the paper by Marcus et al. (1) published in the May 14, 2013 issue of the Journal. The authors brought to light the complex nature of clinical genetics in arrhythmogenic right ventricular cardiomyopathy (ARVC) patients. Overall, this paper provides an important review of the current state of clinical genetic testing for this rare condition. We applaud the authors for their confirmation of the Heart Rhythm Society/European Heart Rhythm Association guidelines (2) in recommending genetic counseling when ordering genetic testing in this and other cardiomyopathies.. The Johns Hopkins arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) program was established in 1999 with 3 goals: 1) to educate patients and physicians about ARVD/C; 2) to evaluate and manage patients with known or suspected ARVD/C; and 3) to contribute to the body of literature regarding this condition. The program has facilitated the clinical evaluation of over 1,140 patients and follows over 250 ...

TY - JOUR. T1 - Long-Term Efficacy of Catheter Ablation of Ventricular Tachycardia in Patients With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. AU - Dalal, Darshan. AU - Jain, Rahul. AU - Tandri, Harikrishna. AU - Dong, Jun. AU - Eid, Shaker M. AU - Prakasa, Kalpana. AU - Tichnell, Crystal. AU - James, Cynthia Anne. AU - Abraham, Theodore. AU - Russell, Stuart D.. AU - Sinha, Sunil. AU - Judge, Daniel P.. AU - Bluemke, David A.. AU - Marine, Joseph. AU - Calkins, Hugh. PY - 2007/7/31. Y1 - 2007/7/31. N2 - Objectives: This study sought to evaluate the outcomes of radiofrequency catheter ablation (RFA) of ventricular tachycardia (VT) in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) patients. Particular focus was placed on defining the single-procedure efficacy over long-term follow-up. Background: ARVD/C is an inherited cardiomyopathy characterized by VT and right ventricular dysfunction. Prior single-center studies have reported conflicting results concerning ...

Arrhythmogenic right ventricular (RV) dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy characterized histologically by fibro-fatty myocardial replacement of the RV and clinically by ventricular arrhythmias and RV dysfunction (1,2). Patients with ARVD/C typically present in their mid-teens to mid-forties with symptomatic ventricular tachycardia (VT) of a left bundle branch block morphology (3). Sudden cardiac death may be the first manifestation of the disease (3-5). Clinical diagnosis is based on diagnostic criteria proposed by the International Task Force of the European Society of Cardiology and International Society and Federation of Cardiology that take into account arrhythmic, electrocardiographic, structural, and histopathologic abnormalities, as well as family history (6).. Arrhythmogenic RV dysplasia/cardiomyopathy is a genetic disorder transmitted with reduced penetrance and variable expressivity. To date, 6 genes have been identified with mutations causing ARVD/C. Both ...

̣̣̣̺ Arrhythmogenic right ventricular dysplasia (ARVD), also called arrhythmogenic right ventricular cardiomyopathy (ARVC) or arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), is an inherited heart disease.Wikipedia ARVD is caused by genetic defects of the parts of heart muscle (also called myocardium or cardiac muscle) known as desmosomes, areas on the surface of heart muscle cells which link the cells together. The desmosomes are composed of several proteins, and many of those proteins can have harmful mutations. The disease is a type of nonischemic cardiomyopathy that involves primarily the right ventricle. It is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle. ARVD can be found in association with diffuse palmoplantar keratoderma, and woolly hair, in a autosomal recessive condition called Naxos disease, ...

Author(s): Scheinman, Melvin; Hoffmayer, KS; Scheinman, MM | Abstract: Ventricular arrhythmias in patients with ARVD/C are common. Differentiation between idiopathic VT and ARVD is of utmost importance. Baseline sinus rhythm electrocardiography as well as electrocar- diographic differences during ventricular arrhythmias (VT o

J. Peter van Tintelen, Mark M. Entius, Zahurul A. Bhuiyan, Roselie Jongbloed, Ans C.P. Wiesfeld, Arthur A.M. Wilde, Jasper van der Smagt, Ludolf G. Boven, Marcel M.A.M. Mannens, Irene M. van Langen, Robert M.W. Hofstra, Luuk C. Otterspoor, Pieter A.F.M. Doevendans, Luz-Maria Rodriguez, Isabelle C. van Gelder and Richard N.W. Hauer ...

Also known as arrhythmogenic right ventricular cardiomyopathy. ARVD stands for Arrhythmogenic Right Ventricular Dysplasia. Arrhythmogenic means causing an arrhythmia. The right ventricle is the chamber of the heart that is affected and dysplasia means there is an abnormality of the structure. The right ventricle is dilated and contracts poorly. As a result, the ability of the heart to pump blood is usually weakened. Patients with ARVD often have arrhythmias (abnormal heart rhythms), which can increase the risk of sudden cardiac arrest or death.. ARVD is a specific type of cardiomyopathy (a disorder of the cardiac muscle).. Simply put, ARVD is a genetic, progressive heart condition in which the muscle of the right ventricle is replaced by fat and fibrosis, which causes abnormal heart rhythms. ARVD is estimated to affect one in 5,000 people. The disease can affect both men and women. Although it is a relatively uncommon cause of sudden cardiac death, it accounts for up to one fifth of sudden ...

Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs. Modelling genetic disorders using induced pluripotent stem cells (iPSCs) is an emerging tool for researchers; however cells derived from iPSCs, such as cardiomyocytes (CMs), have not yet been qualified as useful models of adult disease phenotypes. Now researchers from the group of Huei-Sheng Vincent Chen at the Sanford-Burnham Medical Research Institute, California, USA have studied the inherited heart disease arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) (Calkins and Marcus) an inherited heart disease characterized by pathological fatty infiltration and cardiomyocyte loss in the right ventricle. From patient-specific mutation bearing fibroblasts they generated iPSCs and subsequently iPSC-CMs; finding that induction of adult-like metabolism has a critical role in establishing an adult-onset disease model (Kim et al).. Using fibroblasts taken from a patient with clinical ARVD/C and a homozygous ...

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) usually shows an autosomal dominant inheritance pattern, with incomplete penetrance and variable clinical expression. Classically, index patients present between the second and fourth decades of life with right ventricular tachycardia. However, sudden death can occur at adolescence, whereas mutation carriers may remain without signs and symptoms until old age. Previous genotype-phenotype studies involved mainly overt index patients. Data on mainly asymptomatic relatives were scarce. To gain insight into the full spectrum of the disease, 149 ARVD/C index patients and 302 of their relatives were genotypically and phenotypically characterized. DNA analysis comprised sequencing of the desmosomal genes PKP2, DSC2, DSG2, DSP, and JUP and multiplex ligation-dependent probe amplification to identify large deletions in PKP2. Pathogenic mutations were identified in 87 of 149 ARVD/C index patients (58%), mainly truncating PKP2 mutations ...

TY - JOUR. T1 - Statistical evaluation of reproducibility of automated ECG measurements. T2 - An example from arrhythmogenic right ventricular dysplasia/cardiomyopathy clinic. AU - Huang, Timothy. AU - James, Cynthia A.. AU - Tichnell, Crystal. AU - Murray, Brittney. AU - Xue, Joel. AU - Calkins, Hugh. AU - Tereshchenko, Larisa G.. N1 - Funding Information: Study was partially supported by Dr. Francis P. Chiaramonte Private Foundation , the St. Jude Medical Foundation and Medtronic Inc. The Johns Hopkins ARVD/C Program is supported by the Bogle Foundation , the Healing Hearts Foundation , the Campanella family , and the Wilmerding Endowments . This work was partially supported by the National Institutes of Health (R01 HL118277) to Tereshchenko. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. Funding Information: The authors wish to acknowledge funding from the Dr. Francis P. Chiaramonte Private Foundation, the St. Jude ...

Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy and is also called ARVD/C. In most cases, ARVD is inherited in an autosomal-dominant pattern and clinically is characterized by ventricular arrhythmias with an increased

What is Arrhythmogenic Right Ventricular Dysplasia Familial 12 ARVD12? FDNA Telehealths complete guide to rare disease causes, symptoms, testing, and diagnosis.

Temporal signal averaging of the surface QRS (VI + V3 + V5) was performed in 16 patients with arrhythmogenic right ventricular dysplasia and in 16 normal subjects. The differences between ARVD patients and normals were large for the filtered QRS duration (FQRSd) (146.2±18.9 vs. 91.8±4.1ms, P,000001), the late potential duration (LPd) (83.5±23.3 ms vs. 23.6±4.6ms, P, 0.00001), the LPd/ FQRSd ratio (53.9± 10.1% vs. 25.8±5.1%, P ,0.00001), the filtered QRS amplitude (234.0±61.1μV vs. 429±942 fiV, P ,0001), and the root mean square voltage of the signals in the terminal 40 and 50 ms of the FQRS (RMS40 and RMS50) (18.4± 10.0μV vs. 118.4±49.8p.V, P,0.0005 and 27.9± 19.2μV vs. 217.0±66.3fiV, P,0000002). RMS50 ,40μV discriminated best between ARVD and normals (81% sensitivity and 100% specificity). The right-sided predominance of the abnormalities in ARVD was demonstrated by the significantly longer FQRSd and LPd, and the higher ratio LPd/FQRSd in right than in left precordial leads. The ...

BACKGROUND: We have shown previously that human desmocollin (Dsc) 1 is recognized by IgA autoantibodies of subcorneal pustular dermatosis (SPD) type IgA pemphigus. However, the presence of IgG anti-Dsc autoantibodies is still controversial, and antibodies to Dsc2 and Dsc3 have not been clearly identified.. OBJECTIVES: To investigate this by producing recombinant proteins consisting of the entire extracellular domains of human Dsc1, 2 and 3 in baculovirus, and to use them to establish an enzyme-linked immunosorbent assay (ELISA).. METHODS: By this ELISA, we examined in total 165 cases of various types of autoimmune bullous diseases, as well as 23 normal controls.. RESULTS: None of 45 sera of classical pemphigus showed either IgG or IgA antibodies to any Dsc. In contrast, one atypical pemphigus serum showed both IgG and IgA antibodies to Dsc1, which were adsorbed by incubation with Dsc1 baculoprotein. Furthermore, this ELISA detected both IgA and IgG anti-Dsc3 antibodies in one atypical case, and ...

Arrhythmogenic Right Ventricular Dysplasia is when the muscle tissue in the right ventricle of the heart dies and is replaced with fat and/or fibrous tissue thus disrupting the electrical signals of the heart and causes arrhythmias. This is the forum for discussing anything related to this health condition

Variant summary: PKP2 c.14delG (p.Gly5AlafsX34) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g., p.Arg79X and p.Gln133X). The variant was absent in 30714 control chromosomes. c.14delG has been reported in the literature in one individual affected with Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Another clinical diagnostic laboratory has submitted assessment for this variant to ClinVar before 2014 without evidence ...

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy NGS panel of 14 genes is now available. For further information see Asper Cardiogenetics/ARVD. ...

Cadherin 2, also known as N-cadherin, is a member of the cadherin superfamily of predominantly Ca2+-dependent cell surface adhesion proteins.30 In the heart, cadherin 2 is located at the intercalated disc, a complex and highly organized intercellular structure that ensures structural integrity and functional synchronization across the myocardium through the tight electromechanical coupling of cardiomyocytes.30,31 In the intercalated disc, intercellular communication and adhesion are achieved through 3 main junctional structures forming functional zones, the gap junctions, the fascia adherens junctions, and the desmosomes, with the latter 2 being the main contributors to cell-cell adhesion.30-32 In desmosomes, desmosomal cadherins (desmocollin and desmoglein) are mainly anchored to the intermediate filaments of the cytoskeleton through many intracellular protein partners, whereas in fascia adherens junctions, the classical cadherin, N-cadherin, is primarily anchored to the actin microfilaments of ...

Arrhythmogenic right ventricular dysplasia (or ARVD) is a disease of the heart muscle. In this disease, fatty fibrous tissue replaces normal heart muscle. This interrupts normal electrical signals in the heart and may cause irregular and potentially life-threatening heart rhythms. The heart also becomes weaker over time leading to heart failure.

The patient received a single-chamber implantable cardioverter-defibrillator (ICD), which was implanted without complications.. The patient was advised to limit physical exertion and was prescribed beta-blockers (bisoprolol 2.5 mg daily) in addition to his usual medication.. He remained asymptomatic and tolerated the ICD well. Genetic study and electrocardiographic and echocardiographic monitoring have been recommended for his offspring.1,2. DiscussionEpidemiology. There are limited epidemiologic data on ARVD. Its prevalence in the general population is between 1/2000 and 1/5000, with males being affected more often than females (3:1). Its incidence ranges between 1/1000 and 1/50 000, with considerable geographic variability.3-5. In most cases (80%) ARVD is diagnosed before the age of 40. Worldwide, it is identified as the cause of sudden cardiac death in young adults in 5-11% of cases. In a study in northern Italy it was the leading cause (22.4%) of sudden death in young athletes.6. ARVD should ...

Inciardi R. M. 1, Maresi E. 2, Coppola G. 1, Rotolo A. 1, Clemenza F. 3, Giordano U. 4, Lombardo E. 5, Schicchi R. 6, Torcivia R. 7, Arrotti S. 1, Iacona R. 1, Minacapelli A. A. 1, Assennato P. 1, Novo S. 1 ✉ ...

The team at the Arrhythmogenic Right Ventricular Dysplasia (Arrhythmogenic Right Ventricular Cardiomyopathy) program includes researchers, physicians, geneticists and more.

Cadherins are transmembrane glycoproteins vital in calcium-dependent cell-cell adhesion during tissue differentiation. Cadherins cluster to form foci of homophilic binding units. A key determinant to the strength of the cadherin-mediated adhesion may be by the juxtamembrane region in cadherins. This region induces clus

Desmosome model showing interactions between selected molecular components of simple and stratified epithelia (modified after Nollet et al., 2000). (a) Some rep

Author: Dr. Subhadra Devi V , Dr. Jagadeesh Babu D Dr. Usha Rani V. Category: Anatomy. [Download PDF]. Abstract:. Bilateral Vas aberrans (VA)/superficial brachial artery originating from 3rd part of axillary artery with variations in the formation and branching of cords of brachial plexus on right side and additional contribution to median nerve from musculocutaneous nerve on both sides were observed in a male cadaver among the 25 dissected for student demonstration. In the literature there is no reported incidence of bilateral superficial brachial artery with associated variationsinbrachialplexusoritsbranches. Keywords: Vas Aberrans (VA), superficialbrachial artery, brachial plexus ...