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[PMID]:28156030
[Au] Autor:Li N; Park M; Xiao S; Liu Z; Diaz LA
[Ad] Endereço:Department of Dermatology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
[Ti] Título:ER-to-Golgi blockade of nascent desmosomal cadherins in SERCA2-inhibited keratinocytes: Implications for Darier's disease.
[So] Source:Traffic;18(4):232-241, 2017 Apr.
[Is] ISSN:1600-0854
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Darier's disease (DD) is an autosomal dominantly inherited skin disorder caused by mutations in sarco/endoplasmic reticulum Ca -ATPase 2 (SERCA2), a Ca pump that transports Ca from the cytosol to the endoplasmic reticulum (ER). Loss of desmosomes and keratinocyte cohesion is a characteristic feature of DD. Desmosomal cadherins (DC) are Ca -dependent transmembrane adhesion proteins of desmosomes, which are mislocalized in the lesional but not perilesional skin of DD. We show here that inhibition of SERCA2 by 2 distinct inhibitors results in accumulation of DC precursors in keratinocytes, indicating ER-to-Golgi transport of nascent DC is blocked. Partial loss of SERCA2 by siRNA has no such effect, implicating that haploinsufficiency is not sufficient to affect nascent DC maturation. However, a synergistic effect is revealed between SERCA2 siRNA and an ineffective dose of SERCA2 inhibitor, and between an agonist of the ER Ca release channel and SERCA2 inhibitor. These results suggest that reduction of ER Ca below a critical level causes ER retention of nascent DC. Moreover, colocalization of DC with ER calnexin is detected in SERCA2-inhibited keratinocytes and DD epidermis. Collectively, our data demonstrate that loss of SERCA2 impairs ER-to-Golgi transport of nascent DC, which may contribute to DD pathogenesis.
[Mh] Termos MeSH primário: Doença de Darier/metabolismo
Retículo Endoplasmático/metabolismo
Complexo de Golgi/metabolismo
Queratinócitos/metabolismo
ATPases Transportadoras de Cálcio do Retículo Sarcoplasmático/metabolismo
[Mh] Termos MeSH secundário: Cálcio/metabolismo
Calnexina/metabolismo
Células Cultivadas
Caderinas de Desmossomos/metabolismo
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Desmosomal Cadherins); 139873-08-8 (Calnexin); EC 3.6.3.8 (ATP2A2 protein, human); EC 3.6.3.8 (Sarcoplasmic Reticulum Calcium-Transporting ATPases); SY7Q814VUP (Calcium)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170915
[Lr] Data última revisão:
170915
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170204
[St] Status:MEDLINE
[do] DOI:10.1111/tra.12470


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[PMID]:26399581
[Au] Autor:Polivka L; Bodemer C; Hadj-Rabia S
[Ad] Endereço:Service de Dermatologie, Centre de référence MAGEC, INSERM1163, Institut Imagine Université Paris Descartes, Paris Sorbonne Cité, Faculté de Médecine et AP-HP Necker-Enfants Malades, Paris, France.
[Ti] Título:Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.
[So] Source:J Med Genet;53(5):289-95, 2016 May.
[Is] ISSN:1468-6244
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Inherited desmosomal diseases are characterised by skin and/or cardiac features. Dermatological features might be a clue in the determination of the underlying life-threatening cardiac disease. This article aims to propose a dermatological algorithm for the diagnosis of desmosomal diseases after a systematic review of published articles. Palmoplantar keratoderma (PPK), hair shaft anomalies and skin fragility are the major features in the 458 patients analysed. Isolated PPK or isolated hair shaft anomalies are associated with a desmosomal disease limited to skin. The combination of PPK and hair shaft anomalies was recorded in 161 patients, and this association is at high risk of cardiac disease (129/161, 80.1%). Skin features had led to cardiac monitoring in only 2.3% of those patients. We delineated three major phenotypes: the PPK-hair shaft anomalies-non-fragile skin subtype (77%), always associated with cardiac involvement; the PPK-hair shaft anomalies-skin fragility-normal cardiac function subtype (19.9%), frequently associated with PKP1 mutations; the PPK-hair shaft anomalies-skin fragility-cardiac involvement subtype (3.1%), always due to DSP mutations. Three mutation hotspots in DSP and JUP account for 90.8% of the patients with cardiac involvement. The combination of PPK and hair shaft anomalies justifies long-term cardiac monitoring.
[Mh] Termos MeSH primário: Arritmias Cardíacas/etiologia
Cardiomiopatias/etiologia
Doenças do Cabelo/genética
Ceratodermia Palmar e Plantar/genética
Mutação
[Mh] Termos MeSH secundário: Adolescente
Adulto
Cardiomiopatias/complicações
Criança
Pré-Escolar
Desmoplaquinas/genética
Caderinas de Desmossomos/genética
Desmossomos/metabolismo
Feminino
Doenças do Cabelo/complicações
Doenças do Cabelo/diagnóstico
Doenças do Cabelo/metabolismo
Seres Humanos
Lactente
Recém-Nascido
Ceratodermia Palmar e Plantar/complicações
Ceratodermia Palmar e Plantar/diagnóstico
Ceratodermia Palmar e Plantar/metabolismo
Masculino
Placofilinas/genética
Prognóstico
Síndrome
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Desmoplakins); 0 (Desmosomal Cadherins); 0 (Plakophilins)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170825
[Lr] Data última revisão:
170825
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150925
[St] Status:MEDLINE
[do] DOI:10.1136/jmedgenet-2015-103403


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[PMID]:25946676
[Au] Autor:Pranteda G; Bottoni U; Tayefeh Jafari M; Pranteda G; De Micco S; Muscianese M; Menè P
[Ad] Endereço:Unit of Dermatology, NESMOS Department, Faculty of Medicine, Sant'Andrea" Hospital "Sapienza" University, Rome, Italy - cpranteda@hotmail.com.
[Ti] Título:Dialysis-associated pseudoporphyria successfully treated with vitamin D. Report of two cases.
[So] Source:G Ital Dermatol Venereol;150(3):327-9, 2015 Jun.
[Is] ISSN:0392-0488
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:Pseudoporphyria refers to a rare bullous dermatosis characterized by the clinical and histological features of porfiria cutanea tarda without abnormalities in porphyrin metabolism. The pathogenesis is heterogeneous and several exogenous factors may promote the bullous lesion formation, including medications, end stage renal disease, dialysis and tanning beds. Regarding treatment of this condition, in literature different therapy have been reported, such as glutathione and his precursor N-acetylcysteine, which presents anti-oxidant properties; however even more toxic drugs, such as chloroquine, are used. Moreover, in patients with drug-induced PP discontinuation of the offending agent, if possible, is a crucial aspect of the clinical management. We report two cases of dialysis patients presenting blisters on extremities, which healed with the avoidance of UV exposure and oral Vitamin D supplementation. Interestingly Vitamin D despite the lack of antioxidant properties led to a completely resolution of PP in both our patients within 30 days. A possible explanation of this finding is that Vitamin D, playing a key role in the regulation of serum Ca2+, can modulated cadherin-cadherin interactions and led to healing of pseudoporphyria bullous lesions. Finally we highlight the prominent role of UV-exposure in PP elicitation thus a good photoprotection is essential for all patients with pseudoporphyria.
[Mh] Termos MeSH primário: Transtornos de Fotossensibilidade/tratamento farmacológico
Diálise Renal/efeitos adversos
Dermatopatias Vesiculobolhosas/tratamento farmacológico
Luz Solar/efeitos adversos
Raios Ultravioleta/efeitos adversos
Deficiência de Vitamina D/complicações
Vitamina D/uso terapêutico
[Mh] Termos MeSH secundário: Idoso
Cálcio/fisiologia
Técnicas Cosméticas/efeitos adversos
Caderinas de Desmossomos/fisiologia
Diagnóstico Diferencial
Feminino
Seres Humanos
Junções Intercelulares
Falência Renal Crônica/complicações
Falência Renal Crônica/terapia
Meia-Idade
Nefroesclerose/complicações
Diálise Peritoneal/efeitos adversos
Transtornos de Fotossensibilidade/diagnóstico
Transtornos de Fotossensibilidade/etiologia
Porfiria Cutânea Tardia/diagnóstico
Porfirinas/análise
Dermatopatias Vesiculobolhosas/diagnóstico
Dermatopatias Vesiculobolhosas/etiologia
Vitamina D/fisiologia
Deficiência de Vitamina D/tratamento farmacológico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Desmosomal Cadherins); 0 (Porphyrins); 1406-16-2 (Vitamin D); SY7Q814VUP (Calcium)
[Em] Mês de entrada:1510
[Cu] Atualização por classe:150507
[Lr] Data última revisão:
150507
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150507
[St] Status:MEDLINE


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[PMID]:25939343
[Au] Autor:Grayson PC; Steiling K; Platt M; Berman JS; Zhang X; Xiao J; Alekseyev YO; Liu G; Monach PA; Kaplan MJ; Spira A; Merkel PA
[Ad] Endereço:National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland, and Boston University, Boston, Massachusetts.
[Ti] Título:Defining the nasal transcriptome in granulomatosis with polyangiitis (Wegener's).
[So] Source:Arthritis Rheumatol;67(8):2233-9, 2015 May.
[Is] ISSN:2326-5205
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To determine whether disease processes related to granulomatosis with polyangiitis (Wegener's) (GPA) are reflected in gene expression profiles of the nasal mucosa. METHODS: Nasal brushings of the inferior turbinate were obtained from 32 patients with GPA (10 with active nasal disease, 13 with prior nasal disease, and 9 with no history of nasal disease) and a composite comparator group with and without inflammatory nasal disease (12 healthy people, 15 with sarcoidosis, and 8 with allergic rhinitis). Differential gene expression was assessed between subgroups of GPA and comparators. RESULTS: A total of 339 genes were differentially expressed between the GPA and comparator groups (absolute fold change >1.5; false discovery rate <0.05). Top canonical pathways up-regulated in nasal brushings from patients with GPA included granulocyte adhesion and diapedesis (P = 8.6(-22) ), agranulocyte adhesion and diapedesis (P = 1.3(-14) ), IL10 signaling (P = 3.0(-11) ), LXR/RXR activation (P = 4.3(-11) ), and TREM1 signaling (P = 9.0(-11) ). A set of genes differentially expressed in GPA independently of nasal disease activity status included genes related to epithelial barrier integrity (fibronectin 1, desmosomal proteins) and several matricellular proteins (e.g., osteonectin, osteopontin). Significant overlap of differentially expressed genes was observed between active and prior nasal disease GPA subgroups. Peripheral blood neutrophil and mononuclear gene expression levels associated with GPA were similarly altered in the nasal gene expression profiles of patients with active or prior nasal disease. CONCLUSION: Profiling the nasal transcriptome in GPA reveals gene expression signatures related to innate immunity, inflammatory cell chemotaxis, extracellular matrix composition, and epithelial barrier integrity. Thus, airway-based expression profiling is feasible and informative in GPA.
[Mh] Termos MeSH primário: Granulomatose com Poliangiite/genética
Mucosa Nasal/metabolismo
RNA Mensageiro/metabolismo
Transcriptoma
[Mh] Termos MeSH secundário: Adulto
Idoso
Estudos de Casos e Controles
Quimiotaxia/genética
Caderinas de Desmossomos/genética
Matriz Extracelular/genética
Feminino
Fibronectinas/genética
Perfilação da Expressão Gênica
Granulomatose com Poliangiite/metabolismo
Seres Humanos
Imunidade Inata/genética
Interleucina-10/genética
Masculino
Meia-Idade
Osteonectina/genética
Osteopontina/genética
Rinite Alérgica/genética
Rinite Alérgica/metabolismo
Sarcoidose/genética
Sarcoidose/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, N.I.H., INTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Desmosomal Cadherins); 0 (FN1 protein, human); 0 (Fibronectins); 0 (IL10 protein, human); 0 (Osteonectin); 0 (RNA, Messenger); 106441-73-0 (Osteopontin); 130068-27-8 (Interleukin-10)
[Em] Mês de entrada:1510
[Cu] Atualização por classe:161019
[Lr] Data última revisão:
161019
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:150506
[St] Status:MEDLINE
[do] DOI:10.1002/art.39185


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[PMID]:25723181
[Au] Autor:Jurcic V; Kukovic J; Zidar N
[Ad] Endereço:Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. vesna.jurcic@mf.uni-lj.si.
[Ti] Título:Expression of desmosomal proteins in acantholytic squamous cell carcinoma of the skin.
[So] Source:Histol Histopathol;30(8):945-53, 2015 Aug.
[Is] ISSN:1699-5848
[Cp] País de publicação:Spain
[La] Idioma:eng
[Ab] Resumo:Acantholytic (adenoid) squamous cell carcinoma (ASCC) is a subtype of squamous cell carcinoma (SCC) in which neoplastic tumour cells form gland-like structures. Little is known about the pathogenetic mechanisms of ASCC. We hypothesised that they may be related to the compositon of desmosomes. We analysed the immunohistochemical expression of desmosomal proteins in 5 cases of ASCC of the skin, in comparison to 5 cases of conventional SCC of the skin. The most consistent findings were loss of desmoglein 1 (DSG 1), desmoglein 3 (DSG3), desmocollin 1 (DSC1), desmocollin 2 (DSC2), desmocollin 3 (DSC 3), and plakophilin 1 (PKP 1), and decreased expression of desmoplakin 1 (DP 1) and plakoglobin (PG). In conventional well to moderately differentiated SCC, the expression of desmosomal proteins was decreased, but membranous staining was mostly preserved with patterns similar to normal epidermis. Our results suggest that loss of desmosomal cadherins and decreased expression of desmosomal plaque proteins might be responsible for the formation of gland-like structures in ASCC. It seems that desmosomal cadherins, which correspond to the transmembrane core of desmosomes, are predominantly affected in ASCC, while DP 1 and PG, which correspond to cytoplasmic plaque of desmosomes, probably play a lesser role in maintenance of tumour cell cohesion. Our results also indicate that, in addition to previously described verrucous and spindle cell carcinoma, ASCC is another subtype of SCC with a characteristic expression pattern of desmosomal proteins.
[Mh] Termos MeSH primário: Carcinoma de Células Escamosas/genética
Carcinoma de Células Escamosas/metabolismo
Desmossomos/metabolismo
Proteínas de Neoplasias/biossíntese
Neoplasias Cutâneas/genética
Neoplasias Cutâneas/metabolismo
[Mh] Termos MeSH secundário: Idoso
Carcinoma de Células Escamosas/patologia
Caderinas de Desmossomos/biossíntese
Caderinas de Desmossomos/genética
Desmossomos/genética
Desmossomos/patologia
Epiderme/metabolismo
Seres Humanos
Imuno-Histoquímica
Masculino
Proteínas de Neoplasias/genética
Pele/patologia
Neoplasias Cutâneas/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Desmosomal Cadherins); 0 (Neoplasm Proteins)
[Em] Mês de entrada:1604
[Cu] Atualização por classe:150708
[Lr] Data última revisão:
150708
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150228
[St] Status:MEDLINE
[do] DOI:10.14670/HH-11-599


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[PMID]:24460202
[Au] Autor:Berika M; Garrod D
[Ad] Endereço:Department of Anatomy, Faculty of Medicine, Mansoura University , Mansoura City , Egypt.
[Ti] Título:Desmosomal adhesion in vivo.
[So] Source:Cell Commun Adhes;21(1):65-75, 2014 Feb.
[Is] ISSN:1543-5180
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Desmosomes are intercellular junctions that provide strong adhesion or hyper-adhesion in tissues. Here, we discuss the molecular and structural basis of this with particular reference to the desmosomal cadherins (DCs), their isoforms and evolution. We also assess the role of DCs as regulators of epithelial differentiation. New data on the role of desmosomes in development and human disease, especially wound healing and pemphigus, are briefly discussed, and the importance of regulation of the adhesiveness of desmosomes in tissue dynamics is considered.
[Mh] Termos MeSH primário: Desmossomos/metabolismo
[Mh] Termos MeSH secundário: Animais
Adesão Celular
Desmocolinas/química
Desmocolinas/metabolismo
Desmogleínas/química
Desmogleínas/metabolismo
Caderinas de Desmossomos/química
Caderinas de Desmossomos/metabolismo
Desmossomos/química
Seres Humanos
Pênfigo/metabolismo
Pênfigo/patologia
Isoformas de Proteínas/química
Isoformas de Proteínas/metabolismo
Cicatrização
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Desmocollins); 0 (Desmogleins); 0 (Desmosomal Cadherins); 0 (Protein Isoforms)
[Em] Mês de entrada:1409
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140128
[St] Status:MEDLINE
[do] DOI:10.3109/15419061.2013.876018


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[PMID]:24460203
[Au] Autor:Spindler V; Waschke J
[Ad] Endereço:Ludwig-Maximilians-Universität (LMU) Munich, Institute of Anatomy and Cell Biology, Department I , Munich , Germany.
[Ti] Título:Desmosomal cadherins and signaling: lessons from autoimmune disease.
[So] Source:Cell Commun Adhes;21(1):77-84, 2014 Feb.
[Is] ISSN:1543-5180
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Autoantibodies from patients suffering from the autoimmune blistering skin disease pemphigus can be applied as tools to study desmosomal adhesion. These autoantibodies targeting the desmosomal cadherins desmoglein (Dsg) 1 and Dsg3 cause disruption of desmosomes and loss of intercellular cohesion. Although pemphigus autoantibodies were initially proposed to sterically hinder desmosomes, many groups have shown that they activate signaling pathways which cause disruption of desmosomes and loss of intercellular cohesion by uncoupling the desmosomal plaque from the intermediate filament cytoskeleton and/or by interfering with desmosome turnover. These studies demonstrate that desmogleins serve as receptor molecules to transmit outside-in signaling and demonstrate that desmosomal cadherins have functions in addition to their adhesive properties. Two central molecules regulating cytoskeletal anchorage and desmosome turnover are p38MAPK and PKC. As cytoskeletal uncoupling in turn enhances Dsg3 depletion from desmosomes, both mechanisms reinforce one another in a vicious cycle that compromise the integrity and number of desmosomes.
[Mh] Termos MeSH primário: Doenças Autoimunes/metabolismo
Caderinas de Desmossomos/metabolismo
[Mh] Termos MeSH secundário: Autoanticorpos/imunologia
Doenças Autoimunes/patologia
Desmogleínas/química
Desmogleínas/imunologia
Desmogleínas/metabolismo
Caderinas de Desmossomos/química
Desmossomos/metabolismo
Seres Humanos
Pênfigo/imunologia
Pênfigo/metabolismo
Pênfigo/patologia
Proteína Quinase C/metabolismo
Transdução de Sinais
Proteínas Quinases p38 Ativadas por Mitógeno/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Autoantibodies); 0 (Desmogleins); 0 (Desmosomal Cadherins); EC 2.7.11.13 (Protein Kinase C); EC 2.7.11.24 (p38 Mitogen-Activated Protein Kinases)
[Em] Mês de entrada:1409
[Cu] Atualização por classe:140127
[Lr] Data última revisão:
140127
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140128
[St] Status:MEDLINE
[do] DOI:10.3109/15419061.2013.877000


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[PMID]:24086444
[Au] Autor:Vite A; Gandjbakhch E; Prost C; Fressart V; Fouret P; Neyroud N; Gary F; Donal E; Varnous S; Fontaine G; Fornes P; Hidden-Lucet F; Komajda M; Charron P; Villard E
[Ad] Endereço:UPMC, University Paris 06, Hôpital Pitié-Salpêtrière, Paris, France ; INSERM, UMR_S956, ICAN, Hôpital Pitié-Salpêtrière, Paris, France.
[Ti] Título:Desmosomal cadherins are decreased in explanted arrhythmogenic right ventricular dysplasia/cardiomyopathy patient hearts.
[So] Source:PLoS One;8(9):e75082, 2013.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:AIMS: Arrhythmogenic right ventricular Dysplasia/cardiomyopathy (ARVD/C) is an autosomal dominant inherited cardiomyopathy associated with ventricular arrhythmia, heart failure and sudden death. Genetic studies have demonstrated the central role of desmosomal proteins in this disease, where 50% of patients harbor a mutation in a desmosmal gene. However, clinical diagnosis of the disease remains difficult and molecular mechanisms appears heterogeneous and poorly understood. The aim of this study was to characterize the expression profile of desmosomal proteins in explanted ARVD/C heart samples, in order to identify common features of the disease. METHODS AND RESULTS: We examined plakophilin-2, desmoglein-2, desmocollin-2, plakoglobin and ß-catenin protein expression levels from seven independent ARVD/C heart samples compared to two ischemic, five dilated cardiomyopathy and one healthy heart sample as controls. Ventricular and septum sections were examined by immunoblot analysis of total heart protein extracts and by immunostaining. Immunoblots indicated significant decreases in desmoglein-2 and desmocollin-2, independent of any known underlying mutations, whereas immune-histochemical analysis showed normal localization of all desmosomal proteins. Quantitative RT-PCR revealed normal DSG2 and DSC2 mRNA transcript levels, suggesting increased protein turn-over rather than transcriptional down regulation. CONCLUSION: Reduced cardiac desmoglein-2 and desmocollin-2 levels appear to be specifically associated with ARVD/C, independent of underlying mutations. These findings highlight a key role of desmosomal cadherins in the pathophysiology of ARVD/C. Whether these reductions could be considered as specific markers for ARVD/C requires replication analysis.
[Mh] Termos MeSH primário: Displasia Arritmogênica Ventricular Direita/metabolismo
Biomarcadores/metabolismo
Desmocolinas/metabolismo
Desmogleína 2/metabolismo
Caderinas de Desmossomos/metabolismo
Perfilação da Expressão Gênica/métodos
[Mh] Termos MeSH secundário: Displasia Arritmogênica Ventricular Direita/diagnóstico
Primers do DNA/genética
Desmoplaquinas/metabolismo
Imunofluorescência
Seres Humanos
Immunoblotting
Microscopia Eletrônica
Placofilinas/metabolismo
Reação em Cadeia da Polimerase em Tempo Real
Estatísticas não Paramétricas
beta Catenina/metabolismo
gama Catenina
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Biomarkers); 0 (DNA Primers); 0 (DSC2 protein, human); 0 (Desmocollins); 0 (Desmoglein 2); 0 (Desmoplakins); 0 (Desmosomal Cadherins); 0 (JUP protein, human); 0 (PKP2 protein, human); 0 (Plakophilins); 0 (beta Catenin); 0 (gamma Catenin)
[Em] Mês de entrada:1407
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:131003
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0075082


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[PMID]:23517469
[Au] Autor:Ueda A; Ishii N; Temporin K; Yamazaki R; Murakami F; Fukuda S; Hamada T; Dainichi T; Kyoya M; Saito C; Matsunaga R; Kimura S; Kawakami T; Soma Y; Hashimoto T
[Ad] Endereço:Department of Dermatology, Kurume University School of Medicine, Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
[Ti] Título:IgA pemphigus with paraneoplastic pemphigus-like clinical features showing IgA antibodies to desmoglein 1/3 and desmocollin 3, and IgG and IgA antibodies to the basement membrane zone.
[So] Source:Clin Exp Dermatol;38(4):370-3, 2013 Jun.
[Is] ISSN:1365-2230
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:A 79-year-old Japanese woman presented with severe recalcitrant erosions on her oral mucosa, resembling paraneoplastic pemphigus. Using indirect immunofluorescence, we detected IgA antibodies against the cell surface, and both IgG and IgA antibodies against the basement membrane zone. Immunoblotting showed that the IgG antibodies reacted weakly with bullous pemphigoid 230 and periplakin, whereas the IgA antibodies did not react with any antigen. IgA antibodies to both desmoglein (Dsg)1 and Dsg3 were detected by ELISA. IgA antibodies to desmocollin (Dsc)3 were also detected by using cDNAs for human Dsc1-3 transfected into COS-7 cells. Despite treatment with oral prednisolone, high-dose intravenous immunoglobulin and double-filtration plasmapheresis, the skin lesions remained active, and the patient died from bronchiolitis obliterans-like respiratory failure. Despite extensive investigations and postmortem examination, no underlying neoplasms were found. The complex immunopathological findings probably played an important role in the development of the patient's unusual clinical features.
[Mh] Termos MeSH primário: Membrana Basal/imunologia
Caderinas de Desmossomos/imunologia
Imunoglobulina A/imunologia
Neoplasias Bucais/imunologia
Síndromes Paraneoplásicas/imunologia
Penfigoide Bolhoso/imunologia
[Mh] Termos MeSH secundário: Idoso
Desmocolinas/imunologia
Desmogleína 1/imunologia
Desmogleína 3/imunologia
Evolução Fatal
Feminino
Seres Humanos
Imunoglobulina G/imunologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DSC3 protein, human); 0 (Desmocollins); 0 (Desmoglein 1); 0 (Desmoglein 3); 0 (Desmosomal Cadherins); 0 (Immunoglobulin A); 0 (Immunoglobulin G)
[Em] Mês de entrada:1311
[Cu] Atualização por classe:130429
[Lr] Data última revisão:
130429
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:130323
[St] Status:MEDLINE
[do] DOI:10.1111/ced.12050


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[PMID]:23481192
[Au] Autor:Kowalczyk AP; Green KJ
[Ad] Endereço:Department of Cell Biology, Emory University School of Medicine, Atlanta, Georgia, USA.
[Ti] Título:Structure, function, and regulation of desmosomes.
[So] Source:Prog Mol Biol Transl Sci;116:95-118, 2013.
[Is] ISSN:1878-0814
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Desmosomes are adhesive intercellular junctions that mechanically integrate adjacent cells by coupling adhesive interactions mediated by desmosomal cadherins to the intermediate filament cytoskeletal network. Desmosomal cadherins are connected to intermediate filaments by densely clustered cytoplasmic plaque proteins comprising members of the armadillo gene family, including plakoglobin and plakophilins, and members of the plakin family of cytolinkers, such as desmoplakin. The importance of desmosomes in tissue integrity is highlighted by human diseases caused by mutations in desmosomal genes, autoantibody attack of desmosomal cadherins, and bacterial toxins that selectively target desmosomal cadherins. In addition to reviewing the well-known roles of desmosomal proteins in tissue integrity, this chapter also highlights the growing appreciation for how desmosomal proteins are integrated with cell signaling pathways to contribute to vertebrate tissue organization and differentiation.
[Mh] Termos MeSH primário: Citoesqueleto/metabolismo
Caderinas de Desmossomos/metabolismo
Desmossomos/metabolismo
[Mh] Termos MeSH secundário: Animais
Seres Humanos
Transdução de Sinais
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Nome de substância:
0 (Desmosomal Cadherins)
[Em] Mês de entrada:1311
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:130314
[St] Status:MEDLINE



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