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[PMID]:29178656
[Au] Autor:Wada Y; Ohno S; Aiba T; Horie M
[Ad] Endereço:Department of Cardiovascular Medicine, Shiga University of Medical Science, Otsu, Japan.
[Ti] Título:Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
[So] Source:Mol Genet Genomic Med;5(6):639-651, 2017 11.
[Is] ISSN:2324-9269
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy mainly caused by desmosomal gene mutation. More than half of Caucasian probands have desmosomal mutations, which lead to earlier onset of ventricular arrhythmias. Among non-Caucasians, the genetic background of ARVD/C probands and its prognostic impact remain unclear. METHODS AND RESULTS: We genotyped 99 unrelated Japanese ARVD/C probands for plakophilin 2 (PKP2), desmoglein 2 (DSG2), desmoplakin (DSP), and desmocollin 2 (DSC2) between 2005 and 2014. Seventy-five probands who fulfilled "definite" category according to the 2010 Task Force Criteria (TFC) were enrolled and followed up for 6.4 years. Sixty-four percent of probands had desmosomal mutations; DSG2 was predominant (48% of mutations) followed by PKP2 (38%). DSG2 mutations were almost missense, whereas over 90% of PKP2 mutations were truncating mutations. Lethal ventricular arrhythmias (VAs, sustained ventricular tachycardia/fibrillation) occurred in 57% of probands as the first manifestation and 71% at the end of follow-up. Five died during follow-up. Truncating mutation carriers exhibited earlier lethal VAs onset compared to missense mutation carriers or mutation negatives (age at onset 35 ± 12, 49 ± 16, and 50 ± 19 years, respectively, P < 0.05 in each). Cox proportional hazard analysis revealed for the first time that, compared to mutation negatives, truncating mutation carriers had higher risk for lethal VAs, and especially for onset by their 40s, in an age-dependent manner (RR = 4.6, P < 0.01 by their 40s; RR = 2.9, P = 0.01 by their 50s). CONCLUSION: The genetic background of Japanese ARVD/C probands is distinct from that of Caucasian probands, leading to distinct prognosis. The most affected gene mutations in Japanese probands were missense mutations in DSG2 leading to modest outcome, whereas PKP2 truncating mutations were the second most and might be a strong marker for lethal VAs in non-Caucasian Japanese ARVD/C probands.
[Mh] Termos MeSH primário: Displasia Arritmogênica Ventricular Direita/genética
Grupo com Ancestrais do Continente Asiático/genética
[Mh] Termos MeSH secundário: Adulto
Displasia Arritmogênica Ventricular Direita/diagnóstico
Displasia Arritmogênica Ventricular Direita/mortalidade
Estudos de Coortes
Desmocolinas/genética
Desmogleína 2/genética
Desmoplaquinas/genética
Feminino
Seguimentos
Mutação da Fase de Leitura
Estudos de Associação Genética
Patrimônio Genético
Genótipo
Heterozigoto
Seres Humanos
Japão
Estimativa de Kaplan-Meier
Masculino
Meia-Idade
Mutação de Sentido Incorreto
Razão de Chances
Fenótipo
Placofilinas/genética
Modelos de Riscos Proporcionais
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (DSC2 protein, human); 0 (Desmocollins); 0 (Desmoglein 2); 0 (Desmoplakins); 0 (Plakophilins)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE
[do] DOI:10.1002/mgg3.311


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[PMID]:29038103
[Au] Autor:Pilichou K; Lazzarini E; Rigato I; Celeghin R; De Bortoli M; Perazzolo Marra M; Cason M; Jongbloed J; Calore M; Rizzo S; Regazzo D; Poloni G; Iliceto S; Daliento L; Delise P; Corrado D; Van Tintelen JP; Thiene G; Rampazzo A; Basso C; Bauce B; Lorenzon A; Occhi G
[Ad] Endereço:From the Departments of Cardiac, Thoracic, and Vascular Sciences (K.P., E.L., I.R., R.C., M.P.M., M.C., S.R., S.I., L.D., D.C., G. T., C.B., B.B.) and Medicine (D.R.), University of Padua, Italy; Department of Biology, University of Padua, Italy (M.D.B., M.C., G.P., A.R., A.L., G.O.); University Med
[Ti] Título:Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients.
[So] Source:Circ Arrhythm Electrophysiol;10(10), 2017 Oct.
[Is] ISSN:1941-3084
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Arrhythmogenic cardiomyopathy (AC) is an inherited heart muscle disease associated with point mutations in genes encoding for cardiac desmosome proteins. Conventional mutation screening is positive in ≈50% of probands. Copy number variations (CNVs) have recently been linked to AC pointing to the need to determine the prevalence of CNVs in desmosomal genes and to evaluate disease penetrance by cosegregation analysis in family members. METHODS AND RESULTS: A total of 160 AC genotype-negative probands for 5 AC desmosomal genes by conventional mutation screening underwent multiplex ligation-dependent probe amplification. Nine heterozygous CNVs were identified in 11 (6.9%) of the 160 probands. Five carried a deletion of the entire plakophilin-2 ( ) gene, 2 a deletion of only exon 4, 1 a deletion of the exons 6 to 11, 1 a duplication of 5' untranslated region till exon 1, 1 the desmocollin-2 ( ) duplication of exons 7 to 9, and 1 a large deletion of chromosome 18 comprising both and genes. All probands were affected by moderate-severe forms of the disease, whereas 10 (32%) of the 31 family members carrying one of these deletions fulfilled the diagnostic criteria. CONCLUSIONS: Genomic rearrangements were detected in ≈7% of AC probands negative for pathogenic point mutations in desmosomal genes, highlighting the potential of CNVs analysis to substantially increase the diagnostic yield of genetic testing. Genotype-phenotype correlation demonstrated the presence of the disease in about one third of family members carrying the CNV, underlying the role of other factors in the development and progression of the disease.
[Mh] Termos MeSH primário: Displasia Arritmogênica Ventricular Direita/genética
Desmossomos/genética
Rearranjo Gênico
[Mh] Termos MeSH secundário: Potenciais de Ação
Adolescente
Adulto
Idoso
Displasia Arritmogênica Ventricular Direita/diagnóstico
Displasia Arritmogênica Ventricular Direita/fisiopatologia
Variações do Número de Cópias de DNA
Análise Mutacional de DNA
Desmocolinas/genética
Desmogleína 2/genética
Desmoplaquinas/genética
Eletrocardiografia
Técnicas Eletrofisiológicas Cardíacas
Feminino
Deleção de Genes
Dosagem de Genes
Duplicação Gênica
Estudos de Associação Genética
Marcadores Genéticos
Predisposição Genética para Doença
Frequência Cardíaca
Hereditariedade
Seres Humanos
Itália
Masculino
Meia-Idade
Reação em Cadeia da Polimerase Multiplex
Linhagem
Fenótipo
Placofilinas/genética
Mutação Puntual
Fatores de Risco
Adulto Jovem
gama Catenina
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DSC2 protein, human); 0 (DSG2 protein, human); 0 (DSP protein, human); 0 (Desmocollins); 0 (Desmoglein 2); 0 (Desmoplakins); 0 (Genetic Markers); 0 (JUP protein, human); 0 (PKP2 protein, human); 0 (Plakophilins); 0 (gamma Catenin)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171018
[St] Status:MEDLINE


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[PMID]:28256248
[Au] Autor:Liu JS; Fan LL; Li JJ; Xiang R
[Ad] Endereço:Department of Nephrology, The Third Xiangya Hospital of Central South University, Changsha, China; Department of Cell Biology, The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
[Ti] Título:Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy.
[So] Source:Am J Cardiol;119(9):1485-1489, 2017 May 01.
[Is] ISSN:1879-1913
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare heart disorder characterized by myocyte loss and fibro-fatty tissue replacement. With the progress of ARVC, patient can present serious ventricular arrhythmias, heart failure, and even sudden cardiac death. Previous studies have revealed that the generation and development of ARVC are related to structural changes of desmosomes. To date, at least 5 genes associated with desmosomes have been identified in patients with ARVC, including Desmoplakin, Plakophilin 2, Desmoglein 2, Desmocollin 2, and Junction plakoglobin. In this study, we applied whole-exome sequencing to explore the potential causative gene in a Chinese family with suspicious ARVC. A novel missense mutation (c.1090 G > A/p.V364 M) of DSC2 was identified and co-segregated with the affected family members. This mutation leads to a substitution of valine by methionine and is predicted to be damaging by bioinformatics tools. In conclusion, our study not only expands the spectrum of DSC2 mutations and contributes to genetic counseling of families with ARVC but also improves the awareness of pathogenesis in Chinese patients with ARVC.
[Mh] Termos MeSH primário: Displasia Arritmogênica Ventricular Direita/genética
Grupo com Ancestrais do Continente Asiático
Desmocolinas/genética
Mutação de Sentido Incorreto
[Mh] Termos MeSH secundário: Adulto
Idoso
Exoma/genética
Feminino
Seres Humanos
Masculino
Meia-Idade
Linhagem
Análise de Sequência de DNA
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DSC2 protein, human); 0 (Desmocollins)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170425
[Lr] Data última revisão:
170425
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170304
[St] Status:MEDLINE


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[PMID]:28154962
[Au] Autor:Hart ML; Rusch E; Kaupp M; Nieselt K; Aicher WK
[Ad] Endereço:Laboratory for Cell & Tissue Engineering, Department of Orthopedics and Trauma Surgery, Medical Center - Albert-Ludwigs-University of Freiburg, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Freiburg im Breisgau, Germany. melaniehar@gmail.com.
[Ti] Título:Expression of Desmoglein 2, Desmocollin 3 and Plakophilin 2 in Placenta and Bone Marrow-Derived Mesenchymal Stromal Cells.
[So] Source:Stem Cell Rev;13(2):258-266, 2017 Apr.
[Is] ISSN:1558-6804
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Many controversial results exist when comparing mesenchymal stromal cells (MSCs) derived from different sources. Reasons include not only variables in tissue origin, but also methods of cell preparation or choice of expansion media which can strongly influence the expression and hence, function of the cells. In this short report we aimed to investigate the expression of the cell anchoring proteins desmoglein 2, desmocollin 3 and plakophilin 2 in early passage placenta-derived MSCs of fetal (fetal pMSCs) and maternal (maternal pMSCs) origins versus adult bone marrow-derived MSCs (bmMSCs) that were expanded and cultured under the same good manufacturing practice (GMP) conditions. Comprehensive gene expression microarray analysis profiling indicated differential expression of these genes in the different MSC-derived types with fetal pMSCs expressing the highest levels of PKP2, DSC3 and DSG2, followed by maternal pMSCs, while bmMSCs expressed the lowest levels. A higher expression of PKP2 and DSC3 genes in fetal pMSCs was confirmed by qRT-PCR suggesting neonatal increases in the expression of these desmosomal genes vs. adult MSCs. Intracellular desmocollin 3 and desmoglein 2 expression was observed by flow cytometry and cytoplasmic plakophilin 2 by immunofluorescence in all three MSC sources. These data suggest that fetal pMSCs, maternal pMSCs and bmMSCs may anchor intermediate filaments to the plasma membrane via desmocollin 3, desmoglein 2 and plakophilin 2.
[Mh] Termos MeSH primário: Desmocolinas/genética
Desmogleína 2/genética
Perfilação da Expressão Gênica/métodos
Células Mesenquimais Estromais/metabolismo
Placenta/metabolismo
Placofilinas/genética
[Mh] Termos MeSH secundário: Adulto
Células da Medula Óssea/metabolismo
Diferenciação Celular/genética
Proliferação Celular/genética
Células Cultivadas
Desmocolinas/metabolismo
Desmogleína 2/metabolismo
Feminino
Feto/citologia
Imunofluorescência
Células HeLa
Seres Humanos
Análise de Sequência com Séries de Oligonucleotídeos/métodos
Placenta/citologia
Placofilinas/metabolismo
Gravidez
Reação em Cadeia da Polimerase Via Transcriptase Reversa
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DSC3 protein, human); 0 (Desmocollins); 0 (Desmoglein 2); 0 (PKP2 protein, human); 0 (Plakophilins)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170204
[St] Status:MEDLINE
[do] DOI:10.1007/s12015-016-9710-4


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[PMID]:27177601
[Au] Autor:Ansai O; Shimomura Y; Fujimoto A; Sakai A; Tsuchida Y; Hayashi R; Shigehara Y; Hama N; Abe R
[Ad] Endereço:Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
[Ti] Título:Case of pemphigus herpetiformis with immunoglobulin G autoantibodies against desmocollin-3.
[So] Source:J Dermatol;44(1):104-105, 2017 Jan.
[Is] ISSN:1346-8138
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Autoanticorpos/sangue
Dermatite Herpetiforme/imunologia
Desmocolinas/imunologia
Imunoglobulina G/imunologia
Pênfigo/imunologia
[Mh] Termos MeSH secundário: Administração Cutânea
Administração Oral
Autoantígenos/imunologia
Biópsia
Dapsona/administração & dosagem
Dapsona/uso terapêutico
Dermatite Herpetiforme/sangue
Dermatite Herpetiforme/tratamento farmacológico
Dermatite Herpetiforme/patologia
Fármacos Dermatológicos/administração & dosagem
Fármacos Dermatológicos/uso terapêutico
Desmogleína 1/imunologia
Desmogleína 3/imunologia
Ensaio de Imunoadsorção Enzimática
Feminino
Imunofluorescência
Fluprednisolona/administração & dosagem
Fluprednisolona/análogos & derivados
Fluprednisolona/uso terapêutico
Glucocorticoides/administração & dosagem
Glucocorticoides/uso terapêutico
Seres Humanos
Meia-Idade
Colágenos não Fibrilares/imunologia
Pênfigo/sangue
Pênfigo/tratamento farmacológico
Pênfigo/patologia
Prurido/etiologia
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Nm] Nome de substância:
0 (Autoantibodies); 0 (Autoantigens); 0 (DSC3 protein, human); 0 (DSG1 protein, human); 0 (DSG3 protein, human); 0 (Dermatologic Agents); 0 (Desmocollins); 0 (Desmoglein 1); 0 (Desmoglein 3); 0 (Glucocorticoids); 0 (Immunoglobulin G); 0 (Non-Fibrillar Collagens); 0 (collagen type XVII); 8W5C518302 (Dapsone); 9H05937G3X (Fluprednisolone); S8A06QG2QE (difluprednate)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170717
[Lr] Data última revisão:
170717
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160515
[St] Status:MEDLINE
[do] DOI:10.1111/1346-8138.13451


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[PMID]:27601166
[Au] Autor:Wang Y; Chen C; Wang X; Jin F; Liu Y; Liu H; Li T; Fu J
[Ad] Endereço:Department of Otolaryngology Head and Neck Surgery, Lishui People's Hospital, The Sixth Affiliated Hospital of Wenzhou Medical University, Lishui, Zhejiang, China. wangyating0326@163.com.
[Ti] Título:Lower DSC1 expression is related to the poor differentiation and prognosis of head and neck squamous cell carcinoma (HNSCC).
[So] Source:J Cancer Res Clin Oncol;142(12):2461-2468, 2016 Dec.
[Is] ISSN:1432-1335
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Although desmocollins have an important position in cancer-related research, there are little reports about the relations between cancers and desmocollin 1 (DSC1). The present study was designed to investigate the correlations between DSC1 and head and neck squamous cell carcinoma (HNSCC). METHODS: First we analyzed the GEO database; then, HNSCC and pericarcinous tissues were collected to verify the results. DSC1 expression was detected by western blot and real-time PCR. The co-expression genes of DSC1 were extracted from Cancer Cell Line Encyclopedia database (CCLE database), and their correlation was analyzed in The Cancer Genome Atlas HNSCC database (TCGA HNSCC database). Next the gene ontology analysis (GO) was carried out. Moreover, we suppressed DSC1 in FaDu cell to investigate the internal mechanism. RESULTS: GEO database showed that DSC1 was higher in HNSCC and patients with higher DSC1 had unfavorable prognosis. The results of the samples showed that DSC1 was significantly higher in HNSCC than in normal tissue, which was consistent with the results of GEO database. The co-expression genes of DSC1 were extracted from CCLE database and verified in TCGA HNSCC database. It revealed that DSC1 was related to cell signal transduction. In FaDu/siDSC1 cells, the proliferation and migration were decreased compared to FaDu cells, and the expression levels of ß-catenin, c-myc and cyclin D1 down-regulated significantly. CONCLUSIONS: The increased expression of DSC1 can promote the occurrence of HNSCC and is associated with tumor. The increased expression of DSC1 also indicates a poor prognosis of the patients with HNSCC.
[Mh] Termos MeSH primário: Carcinoma de Células Escamosas/genética
Carcinoma de Células Escamosas/patologia
Diferenciação Celular/genética
Desmocolinas/genética
Neoplasias de Cabeça e Pescoço/genética
Neoplasias de Cabeça e Pescoço/patologia
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Biomarcadores Tumorais/genética
Linhagem Celular Tumoral
Desmocolinas/metabolismo
Regulação para Baixo/genética
Feminino
Regulação Neoplásica da Expressão Gênica
Seres Humanos
Masculino
Meia-Idade
Prognóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (DSC1 protein, human); 0 (Desmocollins)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:171007
[Lr] Data última revisão:
171007
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160908
[St] Status:MEDLINE


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[PMID]:27474350
[Au] Autor:Krahn AD; Healey JS; Gerull B; Angaran P; Chakrabarti S; Sanatani S; Arbour L; Laksman ZW; Carroll SL; Seifer C; Green M; Roberts JD; Talajic M; Hamilton R; Gardner M
[Ad] Endereço:Heart Rhythm Vancouver, Vancouver, British Columbia, Canada; Heart Rhythm Vancouver, Division of Cardiology, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address: akrahn@mail.ubc.ca.
[Ti] Título:The Canadian Arrhythmogenic Right Ventricular Cardiomyopathy Registry: Rationale, Design, and Preliminary Recruitment.
[So] Source:Can J Cardiol;32(12):1396-1401, 2016 Dec.
[Is] ISSN:1916-7075
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a complex and clinically heterogeneous arrhythmic condition. Incomplete penetrance and variable expressivity are particularly evident in ARVC, making clinical decision-making challenging. METHODS: Pediatric and adult cardiologists, geneticists, genetic counsellors, ethicists, nurses, and qualitative researchers are collaborating to create the Canadian ARVC registry using a web-based clinical database. Biological samples will be banked and systematic analysis will be performed to examine potentially causative mutations, variants, and biomarkers. Outcomes will include syncope, ventricular arrhythmias, defibrillator therapies, heart failure, and mortality. RESULTS: Preliminary recruitment has enrolled 365 participants (aged 42.7 ± 17.1 years; 50% women), including 129 probands and 236 family members. Previous cardiac arrest occurred in 28 (8%) participants, syncope occurred in 43 (12%) participants, and 46% of probands had a family history of sudden death. Overall yield of genetic testing was 36% for a disease-causing mutation and 20% for a variant of unknown significance. Target enrollment is 1000 affected patients and 500 unaffected family member controls over 7 years. The cross-sectional and longitudinal data collected in this manner will allow a robust assessment of the natural history and clinical course of genetic subtypes. CONCLUSIONS: The Canadian ARVC Registry will create a population-based cohort of patients and their families to inform clinical decisions regarding patients with ARVC.
[Mh] Termos MeSH primário: Displasia Arritmogênica Ventricular Direita
Morte Súbita Cardíaca
Administração dos Cuidados ao Paciente
Equipe de Assistência ao Paciente/organização & administração
Taquicardia Ventricular
[Mh] Termos MeSH secundário: Adulto
Displasia Arritmogênica Ventricular Direita/complicações
Displasia Arritmogênica Ventricular Direita/diagnóstico
Displasia Arritmogênica Ventricular Direita/epidemiologia
Displasia Arritmogênica Ventricular Direita/genética
Canadá/epidemiologia
Morte Súbita Cardíaca/epidemiologia
Morte Súbita Cardíaca/etiologia
Morte Súbita Cardíaca/prevenção & controle
Desmocolinas/genética
Feminino
Testes Genéticos/estatística & dados numéricos
Testes de Função Cardíaca/métodos
Testes de Função Cardíaca/estatística & dados numéricos
Ventrículos do Coração/diagnóstico por imagem
Seres Humanos
Comunicação Interdisciplinar
Colaboração Intersetorial
Masculino
Proteínas de Membrana/genética
Meia-Idade
Administração dos Cuidados ao Paciente/métodos
Administração dos Cuidados ao Paciente/organização & administração
Sistema de Registros/estatística & dados numéricos
Medição de Risco/métodos
Taquicardia Ventricular/diagnóstico
Taquicardia Ventricular/etiologia
Taquicardia Ventricular/mortalidade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DSC2 protein, human); 0 (Desmocollins); 0 (Membrane Proteins); 0 (TMEM43 protein, human)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170721
[Lr] Data última revisão:
170721
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160731
[St] Status:MEDLINE


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[PMID]:27298358
[Au] Autor:Harrison OJ; Brasch J; Lasso G; Katsamba PS; Ahlsen G; Honig B; Shapiro L
[Ad] Endereço:Department of Systems Biology, Columbia University, New York, NY 10032; Howard Hughes Medical Institute, Columbia University, New York, NY 10032;
[Ti] Título:Structural basis of adhesive binding by desmocollins and desmogleins.
[So] Source:Proc Natl Acad Sci U S A;113(26):7160-5, 2016 06 28.
[Is] ISSN:1091-6490
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Desmosomes are intercellular adhesive junctions that impart strength to vertebrate tissues. Their dense, ordered intercellular attachments are formed by desmogleins (Dsgs) and desmocollins (Dscs), but the nature of trans-cellular interactions between these specialized cadherins is unclear. Here, using solution biophysics and coated-bead aggregation experiments, we demonstrate family-wise heterophilic specificity: All Dsgs form adhesive dimers with all Dscs, with affinities characteristic of each Dsg:Dsc pair. Crystal structures of ectodomains from Dsg2 and Dsg3 and from Dsc1 and Dsc2 show binding through a strand-swap mechanism similar to that of homophilic classical cadherins. However, conserved charged amino acids inhibit Dsg:Dsg and Dsc:Dsc interactions by same-charge repulsion and promote heterophilic Dsg:Dsc interactions through opposite-charge attraction. These findings show that Dsg:Dsc heterodimers represent the fundamental adhesive unit of desmosomes and provide a structural framework for understanding desmosome assembly.
[Mh] Termos MeSH primário: Adesivos/química
Desmocolinas/química
Desmogleínas/química
[Mh] Termos MeSH secundário: Adesivos/metabolismo
Desmocolinas/metabolismo
Desmogleínas/metabolismo
Dimerização
Seres Humanos
Cinética
Conformação Proteica
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Adhesives); 0 (Desmocollins); 0 (Desmogleins)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170814
[Lr] Data última revisão:
170814
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160615
[St] Status:MEDLINE
[do] DOI:10.1073/pnas.1606272113


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[PMID]:27150020
[Au] Autor:Teye K; Numata S; Ohzono A; Ohyama B; Tsuchisaka A; Koga H; Hachiya T; Tsuruta D; Ishii N; Hashimoto T
[Ad] Endereço:Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Kurume, Fukuoka, Japan.
[Ti] Título:Establishment of IgA ELISAs of mammalian recombinant proteins of human desmocollins 1-3.
[So] Source:J Dermatol Sci;83(1):75-7, 2016 Jul.
[Is] ISSN:1873-569X
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Mh] Termos MeSH primário: Autoanticorpos/sangue
Desmocolinas/imunologia
Imunoglobulina A/sangue
Pênfigo/diagnóstico
[Mh] Termos MeSH secundário: Ensaio de Imunoadsorção Enzimática
Seres Humanos
Pênfigo/sangue
Pênfigo/imunologia
Proteínas Recombinantes/imunologia
[Pt] Tipo de publicação:LETTER
[Nm] Nome de substância:
0 (Autoantibodies); 0 (DSC1 protein, human); 0 (DSC2 protein, human); 0 (DSC3 protein, human); 0 (Desmocollins); 0 (Immunoglobulin A); 0 (Recombinant Proteins)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170510
[Lr] Data última revisão:
170510
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160507
[St] Status:MEDLINE


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[PMID]:26850880
[Au] Autor:Asimaki A; Protonotarios A; James CA; Chelko SP; Tichnell C; Murray B; Tsatsopoulou A; Anastasakis A; te Riele A; Kléber AG; Judge DP; Calkins H; Saffitz JE
[Ad] Endereço:From the Department of Pathology, Beth Israel Deaconess Medical Center & Harvard Medical School, Boston, MA (A. Asimaki, A.G.K., J.E.S.); Nikos Protonotarios Medical Center, Naxos, Greece (A.P., A.T.); Department of Medicine/Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD
[Ti] Título:Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells.
[So] Source:Circ Arrhythm Electrophysiol;9(2):e003688, 2016 Feb.
[Is] ISSN:1941-3084
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Analysis of myocardium has revealed mechanistic insights into arrhythmogenic cardiomyopathy but cardiac samples are difficult to obtain from probands and especially from family members. To identify a potential surrogate tissue, we characterized buccal mucosa cells. METHODS AND RESULTS: Buccal cells from patients, mutation carriers, and controls were immunostained and analyzed in a blinded fashion. In additional studies, buccal cells were grown in vitro and incubated with SB216763. Immunoreactive signals for the desmosomal protein plakoglobin and the major cardiac gap junction protein Cx43 were markedly diminished in buccal mucosa cells from arrhythmogenic cardiomyopathy patients with known desmosomal mutations when compared with controls. Plakoglobin and Cx43 signals were also reduced in most family members who carried disease alleles but showed no evidence of heart disease. Signal for the desmosomal protein plakophilin-1 was reduced in buccal mucosa cells in patients with PKP2 mutations but not in those with mutations in other desmosomal genes. Signal for the desmosomal protein desmoplakin was reduced in buccal mucosa cells from patients with mutations in DSP, DSG2, or DSC2 but not in PKP2 or JUP. Abnormal protein distributions were reversed in cultured cells incubated with SB216763, a small molecule that rescues the disease phenotype in cardiac myocytes. CONCLUSIONS: Buccal mucosa cells from arrhythmogenic cardiomyopathy patients exhibit changes in the distribution of cell junction proteins similar to those seen in the heart. These cells may prove useful in future studies of disease mechanisms and drug screens for effective therapies in arrhythmogenic cardiomyopathy.
[Mh] Termos MeSH primário: Displasia Arritmogênica Ventricular Direita/metabolismo
Desmoplaquinas/metabolismo
Células Epiteliais/metabolismo
Mucosa Bucal/metabolismo
[Mh] Termos MeSH secundário: Displasia Arritmogênica Ventricular Direita/diagnóstico
Displasia Arritmogênica Ventricular Direita/genética
Baltimore
Boston
Estudos de Casos e Controles
Células Cultivadas
Conexina 43/metabolismo
Análise Mutacional de DNA
Desmocolinas/genética
Desmogleína 2/genética
Desmoplaquinas/genética
Predisposição Genética para Doença
Grécia
Seres Humanos
Imuno-Histoquímica
Mutação
Fenótipo
Placofilinas/genética
Placofilinas/metabolismo
gama Catenina
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Connexin 43); 0 (DSC2 protein, human); 0 (DSG2 protein, human); 0 (DSP protein, human); 0 (Desmocollins); 0 (Desmoglein 2); 0 (Desmoplakins); 0 (GJA1 protein, human); 0 (JUP protein, human); 0 (PKP2 protein, human); 0 (Plakophilins); 0 (gamma Catenin)
[Em] Mês de entrada:1606
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160207
[St] Status:MEDLINE
[do] DOI:10.1161/CIRCEP.115.003688



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