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[PMID]:29465536
[Au] Autor:Yan X; Jin J
[Ad] Endereço:Department of Hepatology, The First Hospital of Jilin University, Changchun, Jilin, China.
[Ti] Título:Primary cutaneous amyloidosis associated with autoimmune hepatitis-primary biliary cirrhosis overlap syndrome and Sjögren syndrome: A case report.
[So] Source:Medicine (Baltimore);97(8):e0004, 2018 Feb.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Primary cutaneous amyloidosis (PCA) is a localized skin disorder characterized by the abnormal deposition of amyloid in the extracellular matrix of the dermis. The association between PCA and other diseases, although rare, has been documented for various autoimmune diseases. PCA associated with autoimmune hepatitis-primary biliary cirrhosis (AIH-PBC) overlap syndrome and Sjögren syndrome (SS) has not been previously reported in the literature. PATIENT CONCERNS: A 50-year-old woman presented with progressive abnormal liver enzyme levels and was referred to our department. DIAGNOSES: Due to the patient's symptoms, laboratory test results, radiographic findings, and pathologic results, she was diagnosed with PCA associated with AIH-PBC overlap syndrome and SS. INTERVENTIONS: She was subsequently treated with a combination of ursodeoxycholic acid (UDCA), prednisone, and azathioprine. OUTCOMES: While this treatment can achieve therapeutic success, it cannot prevent complications from cirrhosis. This patient remains alive but experienced an emergent gastrointestinal hemorrhage. LESSONS: While we acknowledge that this is a single case, these findings extend our knowledge of immunological diseases associated with PCA and suggest a common, immune-mediated pathogenic pathway between PCA, AIH-PBC overlap syndrome, and SS. After 12 years of follow up, clinical manifestations have developed, and these autoimmune diseases have progressed. The combination of UDCA, prednisone, and azathioprine can achieve therapeutic success but cannot prevent disease progression. Routine follow up for this patient is necessary to document disease progression.
[Mh] Termos MeSH primário: Amiloidose Familiar/imunologia
Hepatite Autoimune/complicações
Cirrose Hepática Biliar/complicações
Síndrome de Sjogren/complicações
Dermatopatias Genéticas/imunologia
Doenças do Tecido Conjuntivo Indiferenciado/complicações
[Mh] Termos MeSH secundário: Amiloidose Familiar/tratamento farmacológico
Anti-Inflamatórios/administração & dosagem
Azatioprina/administração & dosagem
Colagogos e Coleréticos/administração & dosagem
Quimioterapia Combinada
Feminino
Hepatite Autoimune/tratamento farmacológico
Hepatite Autoimune/imunologia
Seres Humanos
Imunossupressores/administração & dosagem
Cirrose Hepática Biliar/tratamento farmacológico
Cirrose Hepática Biliar/imunologia
Meia-Idade
Prednisona/administração & dosagem
Síndrome de Sjogren/tratamento farmacológico
Síndrome de Sjogren/imunologia
Dermatopatias Genéticas/tratamento farmacológico
Resultado do Tratamento
Doenças do Tecido Conjuntivo Indiferenciado/tratamento farmacológico
Doenças do Tecido Conjuntivo Indiferenciado/imunologia
Ácido Ursodesoxicólico/administração & dosagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anti-Inflammatory Agents); 0 (Cholagogues and Choleretics); 0 (Immunosuppressive Agents); 724L30Y2QR (Ursodeoxycholic Acid); MRK240IY2L (Azathioprine); VB0R961HZT (Prednisone)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180302
[Lr] Data última revisão:
180302
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180222
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000010004


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[PMID]:29210541
[Au] Autor:Take N; Kido-Nakahara M; Furue M
[Ti] Título:Coexistence of Reticulate Acropigmentation of Kitamura and Dowling-Degos Disease.
[So] Source:Fukuoka Igaku Zasshi;107(4):85-5, 2016 Apr.
[Is] ISSN:0016-254X
[Cp] País de publicação:Japan
[La] Idioma:eng
[Mh] Termos MeSH primário: Hiperpigmentação/complicações
Transtornos da Pigmentação/complicações
Dermatopatias Genéticas/complicações
Dermatopatias Papuloescamosas/complicações
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180202
[Lr] Data última revisão:
180202
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171207
[St] Status:MEDLINE


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[PMID]:29277811
[Au] Autor:Ponti G; Manfredini M; Pastorino L; Maccaferri M; Tomasi A; Pellacani G
[Ad] Endereço:Clinical Pathology Unit, Surgical, Medical and Dental Department of Morphological Sciences related to Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy giovanni.ponti@unimore.it.
[Ti] Título: Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS).
[So] Source:Anticancer Res;38(1):471-476, 2018 01.
[Is] ISSN:1791-7530
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:BACKGROUND/AIM: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder characterized by multiple basal cell carcinomas (BCC), odontogenic tumors and various skeletal anomalies. Basaloid follicular hamartomas (BFHs) constitute rare neoplasms that can be detected in sporadic and familial settings as in the Basaloid Follicular Hamartoma Syndrome (BFHS). Although BFHS shares clinical, histopathological and genetic overlapping with the NBCCS, they are still considered two distinctive entities. The aim of our single-institution study was the analysis of a cohort of PTCH1-mutated patients in order to define clinical and biomolecular relationship between NBCCS and BFHs. MATERIALS AND METHODS: In our study we evaluated PTCH1 gene-carrier probands affected by NBCCS to detect the incidence of BFHs and their correlation with this rare syndrome. RESULTS: Among probands we recognized 4 patients with BFHs. We found 15 germline PTCH1 mutations, uniformly distributed across the PTCH1 gene. Six of them had familial history of NBCCS, two of them were novel and have not been described previously. CONCLUSION: NBCCS and BFHS may be the same genetic entity and not two distinctive syndromes. The inclusion of BFH in the NBCCS cutaneous tumor spectrum might be useful for the recognition of misdiagnosed NBCCS cases that could benefit from tailored surveillance strategies.
[Mh] Termos MeSH primário: Síndrome do Nevo Basocelular/genética
Folículo Piloso/anormalidades
Hamartoma/genética
Receptor Patched-1/genética
Dermatopatias Genéticas/genética
Neoplasias Cutâneas/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Síndrome do Nevo Basocelular/diagnóstico
Síndrome do Nevo Basocelular/patologia
Feminino
Mutação em Linhagem Germinativa/genética
Folículo Piloso/patologia
Hamartoma/diagnóstico
Hamartoma/patologia
Seres Humanos
Masculino
Meia-Idade
Dermatopatias Genéticas/diagnóstico
Dermatopatias Genéticas/patologia
Neoplasias Cutâneas/patologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PTCH protein, human); 0 (Patched-1 Receptor)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180104
[Lr] Data última revisão:
180104
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171227
[St] Status:MEDLINE


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[PMID]:29040284
[Au] Autor:Lee SY; Kim EK; Kim MS; Shin SH; Chang H; Jang SY; Kim HJ; Kim DK
[Ad] Endereço:Division of Cardiology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
[Ti] Título:The prevalence and clinical manifestation of hereditary thrombophilia in Korean patients with unprovoked venous thromboembolisms.
[So] Source:PLoS One;12(10):e0185785, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Hereditary thrombophilia (HT) is a genetic predisposition to thrombosis. Asian mutation spectrum of HT is different from Western ones. We investigated the incidence and clinical characteristics of HT in Korean patients with unprovoked venous thromboembolism (VTE). METHODS: Among 369 consecutive patients with thromboembolic event who underwent thrombophilia tests, we enrolled 222 patients diagnosed with unprovoked VTE. The presence of HT was confirmed by DNA sequencing of the genes that cause deficits in natural anticoagulants (NAs). Median follow-up duration was 40±38 months. RESULTS: Among the 222 patients with unprovoked VTE, 66 (29.7%) demonstrated decreased NA level, and 33 (14.9%) were finally confirmed to have HT in a genetic molecular test. Antithrombin III deficiency (6.3%) was most frequently detected, followed by protein C deficiency (5.4%), protein S deficiency (1.8%), and dysplasminogenemia (1.4%). The HT group was significantly younger (37 [32-50] vs. 52 [43-65] years; P < 0.001) and had a higher proportion of male (69.7% vs. 47%; P = 0.013), more previous VTE events (57.6% vs. 31.7%; P = 0.004), and a greater family history of VTE (43.8% vs. 1.9%; P < 0.001) than the non-HT group. Age <45 years and a family history of VTE were independent predictors for unprovoked VTE with HT (odds ratio, 9.435 [2.45-36.35]; P = 0.001 and 92.667 [14.95-574.29]; P < 0.001). CONCLUSIONS: About 15% of patients with unprovoked VTE had HT. A positive family history of VTE and age <45 years were independent predictors for unprovoked VTE caused by HT.
[Mh] Termos MeSH primário: Deficiência de Antitrombina III/fisiopatologia
Conjuntivite/fisiopatologia
Plasminogênio/deficiência
Deficiência de Proteína C/fisiopatologia
Deficiência de Proteína S/fisiopatologia
Dermatopatias Genéticas/fisiopatologia
Trombofilia/fisiopatologia
Tromboembolia Venosa/fisiopatologia
[Mh] Termos MeSH secundário: Adulto
Idoso
Antitrombina III/genética
Deficiência de Antitrombina III/complicações
Deficiência de Antitrombina III/diagnóstico
Deficiência de Antitrombina III/genética
Conjuntivite/complicações
Conjuntivite/diagnóstico
Conjuntivite/genética
Feminino
Expressão Gênica
Seres Humanos
Masculino
Meia-Idade
Plasminogênio/genética
Proteína C/genética
Deficiência de Proteína C/complicações
Deficiência de Proteína C/diagnóstico
Deficiência de Proteína C/genética
Proteína S/genética
Deficiência de Proteína S/complicações
Deficiência de Proteína S/diagnóstico
Deficiência de Proteína S/genética
República da Coreia
Estudos Retrospectivos
Análise de Sequência de DNA
Dermatopatias Genéticas/complicações
Dermatopatias Genéticas/diagnóstico
Dermatopatias Genéticas/genética
Trombofilia/diagnóstico
Trombofilia/etiologia
Trombofilia/genética
Tromboembolia Venosa/diagnóstico
Tromboembolia Venosa/etiologia
Tromboembolia Venosa/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Protein C); 0 (Protein S); 9000-94-6 (Antithrombin III); 9001-91-6 (Plasminogen)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171018
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0185785


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[PMID]:28686706
[Au] Autor:Tashima Y; Banno F; Kita T; Matsuda Y; Yanamoto H; Miyata T
[Ad] Endereço:Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.
[Ti] Título:Plasminogen Tochigi mice exhibit phenotypes similar to wild-type mice under experimental thrombotic conditions.
[So] Source:PLoS One;12(7):e0180981, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Plasminogen (Plg) is a precursor of plasmin that degrades fibrin. A race-specific A620T mutation in Plg, also known as Plg-Tochigi, originally identified in a patient with recurrent venous thromboembolism, causes dysplasminogenemia with reduced plasmin activity. The Plg-A620T mutation is present in 3-4% of individuals in East Asian populations, and as many as 50,000 Japanese are estimated to be homozygous for the mutant 620T allele. In the present study, to understand the changes of thrombotic phenotypes in individuals with the mutant 620T allele, we generated knock-in mice carrying the homozygous Plg-A622T mutation (PlgT/T), an equivalent to the A620T mutation in human Plg. PlgT/T mice grew normally but showed severely reduced plasmin activity activated by urokinase, equivalent to ~8% of that in wild-type mice. In vitro fibrin clot lysis in plasma was significantly slower in PlgT/T mice than in wild-type mice. However, all experimental models of electrolytic deep vein thrombosis, tissue factor-induced pulmonary embolism, transient focal brain ischaemic stroke, or skin-wound healing showed largely similar phenotypes between PlgT/T mice and wild-type mice. Protein S-K196E mutation (Pros1E/E) is a race-specific genetic risk factor for venous thromboembolism. Coexistence in mice of PlgT/T and Pros1E/E did not affect pulmonary embolism symptoms, compared with those in Pros1E/E mice. Hence, the present study showed that the Plg-A622T mutation, which confers ~8% plasmin activity, does not increase the risk of thrombotic diseases in mice under experimental thrombotic conditions and does not modify the thrombotic phenotype observed in Pros1E/E mice. PlgT/T mice can be used to investigate the potential pathophysiological impact of the Plg-A620T mutation.
[Mh] Termos MeSH primário: Conjuntivite/genética
Técnicas de Introdução de Genes
Mutação
Fenótipo
Plasminogênio/deficiência
Plasminogênio/genética
Dermatopatias Genéticas/genética
Tromboembolia Venosa/genética
[Mh] Termos MeSH secundário: Substituição de Aminoácidos
Animais
Isquemia Encefálica/sangue
Isquemia Encefálica/genética
Isquemia Encefálica/patologia
Conjuntivite/sangue
Conjuntivite/patologia
Modelos Animais de Doenças
Feminino
Fibrina/genética
Fibrina/metabolismo
Fibrinolisina/genética
Fibrinolisina/metabolismo
Expressão Gênica
Seres Humanos
Masculino
Camundongos
Camundongos Transgênicos
Plasminogênio/metabolismo
Proteína S/genética
Proteína S/metabolismo
Embolia Pulmonar/sangue
Embolia Pulmonar/genética
Embolia Pulmonar/patologia
Dermatopatias Genéticas/sangue
Dermatopatias Genéticas/patologia
Acidente Vascular Cerebral/sangue
Acidente Vascular Cerebral/genética
Acidente Vascular Cerebral/patologia
Tromboembolia Venosa/sangue
Tromboembolia Venosa/patologia
Trombose Venosa/sangue
Trombose Venosa/genética
Trombose Venosa/patologia
Cicatrização/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Protein S); 9001-31-4 (Fibrin); 9001-91-6 (Plasminogen); EC 3.4.21.7 (Fibrinolysin)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170708
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0180981


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[PMID]:28557715
[Au] Autor:Kuseyri O; Haas D; Lang N; Schäkel K; Bettendorf M
[Ad] Endereço:Department of General Pediatrics and Division of Pediatric Endocrinology and Diabetes, University Children's Hospital Heidelberg, Heidelberg, Germany; and oya.kuseyri@med.uni-heidelberg.de.
[Ti] Título:Amyloidosis Cutis Dyschromica, a Rare Cause of Hyperpigmentation: A New Case and Literature Review.
[So] Source:Pediatrics;139(5), 2017 May.
[Is] ISSN:1098-4275
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Amyloidosis cutis dyschromica is a rare form of primary cutaneous amyloidosis without systemic involvement and characterized by asymptomatic, progressive hyper- and hypopigmentation. We present the first case of a patient with amyloidosis cutis dyschromica diagnosed previously elsewhere as having Addison disease with generalized hyperpigmentation of the skin. This case suggests that in patients presenting with asymptomatic cutaneous dyschromia a skin biopsy for histopathological examination should be considered.
[Mh] Termos MeSH primário: Amiloidose Familiar/diagnóstico
Hiperpigmentação/etiologia
Dermatopatias Genéticas/diagnóstico
Pele/patologia
[Mh] Termos MeSH secundário: Criança
Diagnóstico Diferencial
Seres Humanos
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170803
[Lr] Data última revisão:
170803
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170531
[St] Status:MEDLINE


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[PMID]:28522066
[Au] Autor:Segurado-Miravalles G; Camacho-Martínez F; Arias-Santiago S; Rodrigues-Barata R; Serrano-Falcón C; Moreno-Arrones OM; Olasolo PJ; Vañó-Galván S
[Ad] Endereço:Dermatology Service, Trichology Unit, Ramon y Cajal Hospital, Madrid, Spain. Electronic address: gonzalo.segurado.miravalles@gmail.com.
[Ti] Título:Reply to: "Regarding trichoscopy of dissecting cellulitis of the scalp".
[So] Source:J Am Acad Dermatol;76(6):e215-e216, 2017 06.
[Is] ISSN:1097-6787
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Celulite (Flegmão)
Dermatoses do Couro Cabeludo
[Mh] Termos MeSH secundário: Seres Humanos
Couro Cabeludo
Dermatopatias Genéticas
[Pt] Tipo de publicação:LETTER; COMMENT
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170520
[St] Status:MEDLINE


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[PMID]:28522065
[Au] Autor:Lacarrubba F; Micali G
[Ad] Endereço:Dermatology Clinic, University of Catania, Italy.
[Ti] Título:Regarding trichoscopy of dissecting cellulitis of the scalp.
[So] Source:J Am Acad Dermatol;76(6):e213, 2017 06.
[Is] ISSN:1097-6787
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Celulite (Flegmão)
Dermatoses do Couro Cabeludo
[Mh] Termos MeSH secundário: Seres Humanos
Couro Cabeludo
Dermatopatias Genéticas
[Pt] Tipo de publicação:LETTER; COMMENT
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170520
[St] Status:MEDLINE


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[PMID]:28497262
[Au] Autor:Giossi A; Mardighian D; Caria F; Poli L; De Giuli V; Costa P; Morotti A; Gamba M; Gilberti N; Ritelli M; Colombi M; Sessa M; Grassi M; Padovani A; Gasparotti R; Pezzini A
[Ad] Endereço:U.O Neurologia, Istituti Ospedalieri di Cremona, Cremona, Italy.
[Ti] Título:Arterial tortuosity in patients with spontaneous cervical artery dissection.
[So] Source:Neuroradiology;59(6):571-575, 2017 Jun.
[Is] ISSN:1432-1920
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:PURPOSE: The aim of this study was to test the hypothesis that patients with spontaneous cervical artery dissection (CeAD) have increased arterial tortuosity, and the objective quantification of such a tortuosity may aid in the identification of subjects at increased risk of disease. METHODS: In the setting of a hospital-based, case-control study, we used the vertebral tortuosity index (VTI) measured on magnetic resonance angiography, a validated method for the assessment and quantification of arterial tortuosity, to compare the degree of tortuosity in a series of consecutive patients with spontaneous CeAD and of age- and sex-matched patients with ischemic stroke unrelated to CeAD (non-CeAD IS) and stroke-free subjects. RESULTS: The study group was composed of 102 patients with CeAD (mean age, 44.5 ± 7.8 years; 66.7% men), 102 with non-CEAD IS, and 102 stroke-free subjects. The VTI was higher in the group of patients with CeAD (median, 7.3; 25th-75th percentile, 10.2) compared with that of non-CeAD IS (median, 3.4; 25th-75th percentile, 4.4) and of stroke-free subjects (median, 4.0; 25th-75th percentile, 2.9; p ≤ 0.001), and was independently associated to the risk of CeAD (OR, 1.18; 95% CI, 1.09-1.29) in multivariable regression analysis. The degree of tortuosity also tended to be higher in CeAD patients who experienced short-term recurrence (5.8%; median, 20.2; 25th-75th percentile, 31.2) than in those without recurrent events (median, 7.2; 25th-75th percentile, 9.4; p = 0.074). CONCLUSION: CeAD patients exhibit increased arterial tortuosity. This might have potential implications for better understanding of the pathophysiology of the disease as well as clinical utility in evaluation, prognostication, and decision-making of affected individuals.
[Mh] Termos MeSH primário: Artérias/anormalidades
Instabilidade Articular/diagnóstico por imagem
Angiografia por Ressonância Magnética
Dermatopatias Genéticas/diagnóstico por imagem
Malformações Vasculares/diagnóstico por imagem
Dissecação da Artéria Vertebral/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adulto
Artérias/diagnóstico por imagem
Estudos de Casos e Controles
Feminino
Seres Humanos
Masculino
Meia-Idade
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170513
[St] Status:MEDLINE
[do] DOI:10.1007/s00234-017-1836-9


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[PMID]:28428247
[Au] Autor:Press ER; Shao Q; Kelly JJ; Chin K; Alaga A; Laird DW
[Ad] Endereço:Physiology and Pharmacology, University of Western Ontario, London, Ontario N6A 5C1, Canada.
[Ti] Título:Induction of cell death and gain-of-function properties of connexin26 mutants predict severity of skin disorders and hearing loss.
[So] Source:J Biol Chem;292(23):9721-9732, 2017 Jun 09.
[Is] ISSN:1083-351X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Connexin26 (Cx26) is a gap junction protein that oligomerizes in the cell to form hexameric transmembrane channels called connexons. Cell surface connexons dock between adjacent cells to allow for gap junctional intercellular communication. Numerous autosomal dominant mutations in the Cx26-encoding gene lead to many skin disorders and sensorineural hearing loss. Although some insights have been gained into the pathogenesis of these diseases, it is not fully understood how distinct mutations result in hearing loss alone or in skin pathologies with comorbid hearing loss. Here we investigated five autosomal dominant Cx26 mutants (N14K, D50N, N54K, M163V, and S183F) linked to various syndromic or nonsyndromic diseases to uncover the molecular mechanisms underpinning these disease links. We demonstrated that when gap junction-deficient HeLa cells expressed the N14K and D50N mutants, they undergo cell death. The N54K mutant was retained primarily within intracellular compartments and displayed dominant or transdominant properties on wild-type Cx26 and coexpressed Cx30 and Cx43. The S183F mutant formed some gap junction plaques but was largely retained within the cell and exhibited only a mild transdominant reduction in gap junction communication when co-expressed with Cx30. The M163V mutant, which causes only hearing loss, exhibited impaired gap junction function and showed no transdominant interactions. These findings suggest that Cx26 mutants that promote cell death or exert transdominant effects on other connexins in keratinocytes will lead to skin diseases and hearing loss, whereas mutants having reduced channel function but exhibiting no aberrant effects on coexpressed connexins cause only hearing loss. Moreover, cell death-inducing mutations lead to more severe syndromic disease.
[Mh] Termos MeSH primário: Conexinas
Junções Comunicantes
Perda Auditiva
Queratinócitos/metabolismo
Mutação de Sentido Incorreto
Dermatopatias Genéticas
[Mh] Termos MeSH secundário: Substituição de Aminoácidos
Morte Celular/genética
Conexina 30
Conexina 43/genética
Conexina 43/metabolismo
Conexinas/genética
Conexinas/metabolismo
Junções Comunicantes/genética
Junções Comunicantes/metabolismo
Células HeLa
Perda Auditiva/genética
Perda Auditiva/metabolismo
Seres Humanos
Dermatopatias Genéticas/genética
Dermatopatias Genéticas/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Connexin 30); 0 (Connexin 43); 0 (Connexins); 0 (DFNA3 protein, human); 0 (GJB6 protein, human)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170422
[St] Status:MEDLINE
[do] DOI:10.1074/jbc.M116.770917



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