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[PMID]:28455095
[Au] Autor:Wang F; Liu C; Jia X; Liu X; Xu Y; Yan S; Jia X; Huang Z; Liu S; Gu M
[Ad] Endereço:Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, Shandong 266003, China; Department of Endocrinology and Metabolism, The Affiliated Hospital of Qingdao University, Qingdao, Shandong 266003, China.
[Ti] Título:Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.
[So] Source:Clin Chim Acta;470:36-41, 2017 Jul.
[Is] ISSN:1873-3492
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The abnormal expression of certain transcription factors (NKX2.1, FOXE1, NKX2.5, and PAX8) and thyroid stimulating hormone receptor (TSHR) genes has been associated with athyreosis, which is a form of thyroid dysgenesis (TD). We aimed to identify candidate gene mutations in CH patients with athyreosis and to establish the genotype-phenotype correlations in a Chinese population. METHODS: The exons and flanking sequences of NKX2.1, FOXE1, NKX2.5, PAX8, and TSHR were screened by next-generation sequencing and further confirmed by direct Sanger sequencing. The mutation frequencies were calculated and compared against databases. The relationship between genotype and phenotype was also determined. RESULTS: Seven variants were detected in TSHR-p.P52T, p.G132R, p.M164K, p.R450H, p.C700E, p.A522V, and p.R528S. The p. G132R, p. M164K and p. R528S variants were first identified in public databases. Five variants (p.G44D, p.G360V, p.R401Q, p.L418I, and p.E453Q) were found in NKX2.1 and one variant (p.P243T) was detected in FOXE1. In addition, one variant (p.N291I) was found in NKX2.5 and two variants (p.A355V and c.-26G>A) were detected in PAX8. CONCLUSIONS: Our study indicated that TSHR mutations have phenotypic variability and has further expanded the mutation spectrum of TSHR. We also revealed that the rate of NKX2.1, FOXE1, NKX2.5, and PAX8 mutations were low in patients with CH and athyreosis, in contrast to the higher rate of TSHR mutations.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Hipotireoidismo Congênito/genética
Análise Mutacional de DNA
Sequenciamento de Nucleotídeos em Larga Escala
Receptores da Tireotropina/genética
Disgenesia da Tireoide/genética
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Sequência de Bases
Criança
Pré-Escolar
Feminino
Fatores de Transcrição Forkhead/genética
Genótipo
Proteína Homeobox Nkx-2.5/genética
Seres Humanos
Masculino
Fator de Transcrição PAX8/genética
Fenótipo
Glândula Tireoide/metabolismo
Fator Nuclear 1 de Tireoide/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (FOXE1 protein, human); 0 (Forkhead Transcription Factors); 0 (Homeobox Protein Nkx-2.5); 0 (NKX2-1 protein, human); 0 (NKX2-5 protein, human); 0 (PAX8 Transcription Factor); 0 (PAX8 protein, human); 0 (Receptors, Thyrotropin); 0 (Thyroid Nuclear Factor 1); 0 (Transcription Factors)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180108
[Lr] Data última revisão:
180108
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170430
[St] Status:MEDLINE


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[PMID]:28743800
[Au] Autor:Ghosh A; Syed SM; Tanwar PS
[Ad] Endereço:Gynaecology Oncology Group, School of Biomedical Sciences and Pharmacy, University of Newcastle, Callaghan, New South Wales, 2308, Australia.
[Ti] Título: genetic cell lineage tracing reveals that oviductal secretory cells self-renew and give rise to ciliated cells.
[So] Source:Development;144(17):3031-3041, 2017 09 01.
[Is] ISSN:1477-9129
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The epithelial lining of the fallopian tube is vital for fertility, providing nutrition to gametes and facilitating their transport. It is composed of two major cell types: secretory cells and ciliated cells. Interestingly, human ovarian cancer precursor lesions primarily consist of secretory cells. It is unclear why secretory cells are the dominant cell type in these lesions. Additionally, the underlying mechanisms governing fallopian tube epithelial homoeostasis are unknown. In the present study, we showed that across the different developmental stages of mouse oviduct, secretory cells are the most frequently dividing cells of the oviductal epithelium. genetic cell lineage tracing showed that secretory cells not only self-renew, but also give rise to ciliated cells. Analysis of a Wnt reporter mouse model and various Wnt target genes showed that the Wnt signaling pathway is involved in oviductal epithelial homoeostasis. By developing two triple-transgenic mouse models, we showed that Wnt/ß-catenin signaling is essential for self-renewal as well as the differentiation of secretory cells. In summary, our results provide mechanistic insight into oviductal epithelial homoeostasis.
[Mh] Termos MeSH primário: Linhagem da Célula
Autorrenovação Celular
Rastreamento de Células
Cílios/metabolismo
Oviductos/citologia
Oviductos/secreção
[Mh] Termos MeSH secundário: Animais
Diferenciação Celular
Proliferação Celular
Epitélio/patologia
Tubas Uterinas/patologia
Feminino
Predisposição Genética para Doença
Seres Humanos
Camundongos Endogâmicos C57BL
Neoplasias Ovarianas/patologia
Fator de Transcrição PAX8/metabolismo
Fatores de Risco
Via de Sinalização Wnt
beta Catenina/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (PAX8 Transcription Factor); 0 (Pax8 protein, mouse); 0 (beta Catenin)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171126
[Lr] Data última revisão:
171126
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170727
[St] Status:MEDLINE
[do] DOI:10.1242/dev.149989


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[PMID]:29060967
[Au] Autor:Mao YN; Zeng LX; Li YH; Liu YZ; Wu JY; Li L; Wang Q
[Ad] Endereço:Laboratory of Early Prevention and Treatment for Regional High Frequence Tumor Ministry of Education Key Laboratory, Affiliated Tumor Hospital, Guangxi Medical University, Nanning 530021, China.
[Ti] Título:[Significance and expression of PAX8, PAX2, p53 and RAS in ovary and fallopian tubes to origin of ovarian high grade serous carcinoma].
[So] Source:Zhonghua Fu Chan Ke Za Zhi;52(10):687-696, 2017 Oct 25.
[Is] ISSN:0529-567X
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To explore the origin of ovarian high grade serous carcinoma (HGSC) through analysing the expression and significance of PAX8, PAX2, p53 and RAS in the ovary and fallopian tube of different types and grades of serous carcinoma. A total of 44 cases tissue samples of ovarian tumor including 34 malignant ovarian tumor and 10 normal normal tissue (as control group) were collected from the admitted patients in Affiliated Tumor Hospital of Guangxi Medical University from January 2015 to January 2016. Fallopian tube tissues were segmented in accordance with the fimbria, ampulla, isthmus and the corresponding ovarian tissues were by the side. There were 34 cases of patients with ovarian cancer including 29 cases of epithelial ovarian cancer (27 serous carcinoma, 1 mucinous carcinoma,1 endometrioid adenocarcinoma) and 5 non-epithelial ovarian cancer (sex cord-interstitial tumor). Among 27 cases of patients with ovarian serous cancer, there were 23 HGSC and 4 low-grade ovarian serous cancer (LGSC). One hundred fifty-three cases of samples were diagnosed as ovarian serous cancer by Shandong University Affiliated Qilu Hospital from 2005 to 2013 and these samples were made tissue microarray. (1) To analyze the expression and differences of PAX8, PAX2, p53 and RAS in the above tissues and tissue microarray from ovarian and tubal of HGSC and control women by immunohistochemistry methods. (2) To compare the expression levels of PAX8, PAX2, p53 and RAS in ovarian and fallopian tubes of ovarian cancer patients with different pathological types. (3) To analyze the correlations of tubal and ovarian tissue in PAX8, PAX2, p53 and RAS expression of HGSC. (4) To analyze the factors of the prognosis of ovarian serous cancer in tissue microarray by single factor analysis method. (1) PAX8, PAX2, p53 and RAS expression was negative in normal ovarian epithelium of control group, but the expression of PAX8, PAX2, p53 and RAS were strongly positive brown in secrete cells of normal fallopian tube epithelium. (2) p53 and RAS expression of fallopian tube epithelium in the epithelial ovarian cancer group were significantly higher than those in the non-epithelial ovarian cancer groups ( 0.05), but the expression of PAX8 and PAX2 in fallopian tube and the expression of PAX8, PAX2, p53 and RAS in ovarian tissue was not statistically significant in the groups ( 0.05). PAX8, PAX2 and p53 expression of the ovarian in HGSC group were significantly higher than those in LGSC group ( 0.05), while the expression of RAS was lower in the ovarian of the high-grade group ( 0.05), while the expression of PAX8, PAX2, p53 and RAS in fallopian tube was not statistically significant in the groups ( 0.05). (3) There was a significantly positive correlation between fallopian tube and the corresponding ovary of HGSC in PAX8 and PAX2 expression ( 0.422, 0.045; 0.693, 0.000), but not correlation in p53 and RAS expression ( 0.058, 0.793; 0.190, 0.384). (4) Univariate survival analysis showed that the progression free survival time in patients with ovarian serous cancer group was significantly correlated with the protein expression of PAX8, PAX2 and RAS ( 0.05), but there were not correlated with age, surgical staging, cell differentiation, lymph node metastasis and preoperative chemotherapy and p53 protein expression ( 0.05). The total survival time in patients with ovarian serous cancer group was significantly correlated with the protein expression of PAX8 ( 0.05), but there were not correlated with age,surgical staging, cell differentiation, lymph node metastasis and preoperative chemotherapy and the protein expression of PAX2, RAS and p53 ( 0.05). PAX8, PAX2, p53, RAS are of great significance for the study of origin of HGSC. HGSC may be derived from fallopian tube, but further investigation would be necessary to confirm this. PAX8, PAX2, p53, RAS could be expected to be used as predictors of survival prognosis in patients with ovarian serous cancer.
[Mh] Termos MeSH primário: Cistadenocarcinoma Seroso/patologia
Neoplasias das Tubas Uterinas/patologia
Tubas Uterinas/patologia
Proteínas Monoméricas de Ligação ao GTP/metabolismo
Neoplasias Epiteliais e Glandulares/patologia
Neoplasias Ovarianas/patologia
Fator de Transcrição PAX2/metabolismo
Fator de Transcrição PAX8/metabolismo
Proteína Supressora de Tumor p53/metabolismo
[Mh] Termos MeSH secundário: Carcinoma Endometrioide
China
Cistadenocarcinoma Seroso/genética
Cistadenocarcinoma Seroso/metabolismo
Epitélio
Neoplasias das Tubas Uterinas/genética
Neoplasias das Tubas Uterinas/metabolismo
Tubas Uterinas/metabolismo
Feminino
Regulação Neoplásica da Expressão Gênica
Seres Humanos
Imuno-Histoquímica
Proteínas Monoméricas de Ligação ao GTP/genética
Proteínas de Neoplasias/genética
Proteínas de Neoplasias/metabolismo
Neoplasias Epiteliais e Glandulares/genética
Neoplasias Epiteliais e Glandulares/metabolismo
Neoplasias Ovarianas/genética
Neoplasias Ovarianas/metabolismo
Fator de Transcrição PAX2/genética
Fator de Transcrição PAX8/genética
Proteína Supressora de Tumor p53/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Neoplasm Proteins); 0 (PAX2 Transcription Factor); 0 (PAX2 protein, human); 0 (PAX8 Transcription Factor); 0 (PAX8 protein, human); 0 (Tumor Suppressor Protein p53); EC 3.6.5.2 (Monomeric GTP-Binding Proteins); EC 3.6.5.2 (REM2 protein, human)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171025
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0529-567X.2017.10.008


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[PMID]:28877054
[Au] Autor:Antic T; Taxy JB; Alikhan M; Segal J
[Ad] Endereço:*Department of Pathology, The University of Chicago, Chicago †Department of Pathology and Laboratory Medicine, NorthShore University HealthSystem, Evanston, IL.
[Ti] Título:Melanotic Translocation Renal Cell Carcinoma With a Novel ARID1B-TFE3 Gene Fusion.
[So] Source:Am J Surg Pathol;41(11):1576-1580, 2017 Nov.
[Is] ISSN:1532-0979
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A 36-year-old male was found to have a 7.0 cm left upper pole renal mass on renal ultrasound. Following nephrectomy, the mass was grossly ill-demarcated, friable and red-brown, invading renal parenchyma, hilar fat and the renal vein. Microscopically, the tumor had a nested and papillary architecture. The cells demonstrated abundant clear and eosinophilic cytoplasm and focal intracytoplasmic melanin pigment. Nucleoli were prominent. By immunohistochemistry, the tumor was positive for TFE3; HMB-45 stained approximately 5% of tumor cells corresponding to the histologic melanin pigment, which was confirmed with Fontana-Masson stain with bleach. Immunostains for PAX8, CD10, MiTF, and CAIX were negative; keratins Cam 5.2 and AE1/AE3 were focally positive. Targeted next-generation sequencing revealed an ARID1B-TFE3 gene fusion. Melanotic Xp11 renal cell carcinoma is a rare, pigment containing translocation variant demonstrating overlapping features with melanoma and is usually associated with an SFPQ-TFE3 gene fusion. The patient is alive and without evidence of disease 7 years after his diagnosis. The combination of high grade histopathology, the presence of melanin, absent PAX8, keratin positivity, and relatively indolent clinical behavior with a unique translocation may warrant recognition as a distinct renal cell carcinoma translocation subtype.
[Mh] Termos MeSH primário: Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/genética
Biomarcadores Tumorais
Carcinoma de Células Renais/genética
Cromossomos Humanos X
Proteínas de Ligação a DNA/genética
Fusão Gênica
Neoplasias Renais/genética
Melaninas/análise
Fatores de Transcrição/genética
Translocação Genética
[Mh] Termos MeSH secundário: Adulto
Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/análise
Biomarcadores Tumorais/análise
Biomarcadores Tumorais/genética
Biópsia
Carcinoma de Células Renais/química
Carcinoma de Células Renais/patologia
Carcinoma de Células Renais/cirurgia
Predisposição Genética para Doença
Seres Humanos
Imuno-Histoquímica
Queratinas/análise
Neoplasias Renais/química
Neoplasias Renais/patologia
Neoplasias Renais/cirurgia
Masculino
Gradação de Tumores
Nefrectomia
Fator de Transcrição PAX8/análise
Fenótipo
Análise de Sequência de DNA
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ARID1B protein, human); 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors); 0 (Biomarkers, Tumor); 0 (DNA-Binding Proteins); 0 (Melanins); 0 (PAX8 Transcription Factor); 0 (PAX8 protein, human); 0 (TFE3 protein, human); 0 (Transcription Factors); 68238-35-7 (Keratins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171023
[Lr] Data última revisão:
171023
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170907
[St] Status:MEDLINE
[do] DOI:10.1097/PAS.0000000000000927


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[PMID]:28666345
[Au] Autor:Szczepanek-Parulska E; Zybek-Kocik A; Wartofsky L; Ruchala M
[Ad] Endereço:Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
[Ti] Título:Thyroid Hemiagenesis: Incidence, Clinical Significance, and Genetic Background.
[So] Source:J Clin Endocrinol Metab;102(9):3124-3137, 2017 Sep 01.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Context: Thyroid hemiagenesis (THA) constitutes a rare, congenital disorder that is characterized by an absence of one thyroid lobe. Because the pathogenesis and clinical significance of this malformation remain undefined, specific clinical recommendations are lacking, especially for asymptomatic cases. Evidence Acquisition: The PubMed database was searched (years 1970 to 2017), and the following terms were used to retrieve the results: "thyroid hemiagenesis," "thyroid hemiaplasia," "one thyroid lobe agenesis," and "one thyroid lobe aplasia." Subsequently, reference sections of the retrieved articles were searched. Evidence Synthesis: There is a noticeable susceptibility of subjects with THA to develop additional thyroid and nonthyroidal pathologies. In pathogenesis of concomitant thyroid pathologies, a chronic elevation in thyroid-stimulating hormone values may play an important role. Thus far, genetic studies failed to find a common genetic background of the anomaly, and the potential underlying cause was identified in a minority of the cases. Conclusions: Patients with THA are prone to develop additional thyroid pathologies and theoretically might benefit from l-thyroxine treatment to lower the thyrotropin levels to those observed in the normal population. However, further research should be done to ascertain whether such intervention early in life would prevent development of associated thyroid conditions. At least, increased vigilance should be maintained to reveal all of the concomitant disorders as soon as possible during follow-up examinations. Application of high-throughput technologies enabling a genome-wide search for novel factors involved in thyroid embryogenesis might be the next step to expand the knowledge on THA pathogenesis.
[Mh] Termos MeSH primário: Patrimônio Genético
Predisposição Genética para Doença/epidemiologia
Disgenesia da Tireoide/epidemiologia
Disgenesia da Tireoide/patologia
[Mh] Termos MeSH secundário: Animais
Proteínas de Ligação a DNA/genética
Feminino
Seres Humanos
Incidência
Masculino
Camundongos
Mutação
Fator de Transcrição PAX8/genética
Prognóstico
Complexo de Endopeptidases do Proteassoma/genética
Doenças Raras
Medição de Risco
Índice de Gravidade de Doença
Disgenesia da Tireoide/diagnóstico por imagem
Disgenesia da Tireoide/tratamento farmacológico
Testes de Função Tireóidea
Neoplasias da Glândula Tireoide/genética
Neoplasias da Glândula Tireoide/patologia
Tiroxina/uso terapêutico
Fatores de Transcrição
Ultrassonografia Doppler/métodos
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; REVIEW
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (PAX8 Transcription Factor); 0 (PAX8 protein, human); 0 (TTF1 protein, human); 0 (Transcription Factors); EC 3.4.25.1 (Proteasome Endopeptidase Complex); Q51BO43MG4 (Thyroxine)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170702
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2017-00784


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[PMID]:28635231
[Au] Autor:Song Y; Huang X; Shen GH; Liu XY; Zhang X
[Ad] Endereço:Department of Pathology, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China.
[Ti] Título:[Comparison of paired box genes 8 and 2 expression in epithelium tissues and the related tumors].
[So] Source:Zhonghua Zhong Liu Za Zhi;39(6):424-428, 2017 Jun 23.
[Is] ISSN:0253-3766
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To explore the expressional differences between paired box genes 2(Pax2) and 8 (Pax8) protein in different kinds of epitheliums and tumors, and to investigate the clinicopathologic significance. Expression levels of Pax2 and Pax8 protein were detected in 75 cases of different human epithelium tissues and 255 cases of different tumors on tissue microarray by immunohistochemistry. Pax2 and Pax8 selectively expressed in different tissues. The positive rates of Pax8 protein expressed in the normal epithelium of the thyroid, urinary system and female reproductive system were 100% (2/2), 60.0% (3/5) and 76.9% (10/13), respectively. The positive rates of Pax2 expressed in the epithelium tissues of urinary system and the female reproductive system were 40.0% (2/5) and 38.5% (5/13) respectively. However, the expression of Pax2 protein was not detected in the normal thyroid epithelium. The positive rate of Pax8 protein expressing in the epithelium of reproductive system was significantly higher than that of Pax2 protein ( <0.05). The tumors derived from different tissues also expressed different levels of protein Pax2 and Pax8. The positive rates of Pax8 in renal cell carcinoma, thyroid carcinoma and endometrial adenocarcinoma were 65.2% (15/23), 66.7% (10/15) and 80.0% (4/5), respectively. The positive rates of Pax2 in renal cell carcinoma, thyroid carcinoma and endometrial adenocarcinoma were 34.8% (8/23), 13.3% (2/15) and 20.0% (1/5), respectively. The positive rates of Pax8 protein expressed in renal cell carcinoma, thyroid carcinoma and endometrial adenocarcinoma were significantly higher than those of Pax2 protein ( <0.05). The positive rates of Pax8 in ovarian serous carcinoma, endometrial carcinoma and clear cell carcinoma were 92.9% (26/28), 81.8% (9/11) and 82.4% (14/17), respectively. The positive rates of Pax2 in ovarian serous carcinoma, endometrial carcinoma and clear cell carcinoma were 28.6% (8/28), 9.1% (1/11) and 17.6% (3/17), respectively. The positive rates of Pax8 protein expressed in ovarian serous carcinoma, endometrial carcinoma and clear cell carcinomawere significantly higher than those of Pax2 protein ( <0.05). Pax2 and Pax8 are specifically expressed in female reproductive system and uritany system. However, the positive expression of Pax8 is superior to that of Pax2. The combined expression of Pax8 and Pax2 can be used in the differential diagnosis of epithelial tumors derived from different origins.
[Mh] Termos MeSH primário: Epitélio/metabolismo
Expressão Gênica
Proteínas de Neoplasias/genética
Fator de Transcrição PAX2/genética
Fator de Transcrição PAX8/genética
[Mh] Termos MeSH secundário: Adenocarcinoma de Células Claras/metabolismo
Carcinoma de Células Renais/metabolismo
Diagnóstico Diferencial
Feminino
Genitália Feminina/metabolismo
Seres Humanos
Imuno-Histoquímica
Masculino
Proteínas de Neoplasias/metabolismo
Neoplasias Epiteliais e Glandulares/metabolismo
Especificidade de Órgãos
Neoplasias Ovarianas/metabolismo
Fator de Transcrição PAX2/metabolismo
Fator de Transcrição PAX8/metabolismo
Glândula Tireoide/metabolismo
Análise Serial de Tecidos
Sistema Urinário/metabolismo
Neoplasias Uterinas/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Neoplasm Proteins); 0 (PAX2 Transcription Factor); 0 (PAX8 Transcription Factor)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170901
[Lr] Data última revisão:
170901
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170622
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0253-3766.2017.06.005


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[PMID]:28339471
[Au] Autor:Ma S; Yang J; Song C; Ge Z; Zhou J; Zhang G; Hu Z
[Ad] Endereço:Department of Gastroenterology, Huai'an First People's Hospital, Nanjing Medical University, Nanjing, China.
[Ti] Título:Expression quantitative trait loci for PAX8 contributes to the prognosis of hepatocellular carcinoma.
[So] Source:PLoS One;12(3):e0173700, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Paired-box family member PAX8 encodes a transcription factor that has a role in cell differentiation and cell growth and may participate in the prognosis of hepatocellular carcinoma (HCC). By bioinformatics analysis, we identified several single nucleotide polymorphisms (SNPs) within a newly identified long non-coding RNA (lncRNA) AC016683.6 as expression quantitative trait loci (eQTLs) for PAX8. Hence, we hypothesized that PAX8eQTLs in lncRNA AC016683.6 may influence the HCC prognosis. We then performed a case-only study to assess the association between the two SNPs as well as the prognosis of HCC in 331 HBV-positive HCC patients without surgical treatment. Cox proportional hazard models were used for survival analysis with adjustments for the age, gender, smoking status, drinking status, Barcelona-Clinic Liver Cancer (BCLC) stage, and chemotherapy or TACE (transcatheter hepatic arterial chemoembolization) status. We found that the G allele of rs1110839 and the T allele of rs4848320 in PAX8was significantly associated with a better prognosis compared with the T allele of rs1110839 and the C allele of rs4848320 (adjusted HR = 0.74, 95% CI = 0.61-0.91, P = 0.004 for rs1110839 and adjusted HR = 0.71, 95% CI = 0.54-0.94, P = 0.015 for rs4848320 in the additive model). Furthermore, the combined effect of the variant genotypes for these two SNPs was more prominent in patients with the BCLC-C stage orpatients with chemotherapy or TACE. Although the exact biological function remains to be explored, our findings suggest a possible association of PAX8eQTLs in lncRNA AC016683.6 with the HCC prognosis inthe Chinese population. Further large and functional studies are needed to confirm our findings.
[Mh] Termos MeSH primário: Carcinoma Hepatocelular/genética
Neoplasias Hepáticas/genética
Fator de Transcrição PAX8/genética
Locos de Características Quantitativas
[Mh] Termos MeSH secundário: Alelos
Carcinoma Hepatocelular/mortalidade
Carcinoma Hepatocelular/patologia
Feminino
Predisposição Genética para Doença
Genótipo
Seres Humanos
Neoplasias Hepáticas/mortalidade
Neoplasias Hepáticas/patologia
Masculino
Meia-Idade
Polimorfismo de Nucleotídeo Único
Prognóstico
Taxa de Sobrevida
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PAX8 Transcription Factor); 0 (PAX8 protein, human)
[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:170325
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0173700


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[PMID]:28329012
[Au] Autor:Kaverina NV; Kadoya H; Eng DG; Rusiniak ME; Sequeira-Lopez ML; Gomez RA; Pippin JW; Gross KW; Peti-Peterdi J; Shankland SJ
[Ad] Endereço:Department of Medicine, Division of Nephrology, University of Washington, Seattle, WA, United States of America.
[Ti] Título:Tracking the stochastic fate of cells of the renin lineage after podocyte depletion using multicolor reporters and intravital imaging.
[So] Source:PLoS One;12(3):e0173891, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Podocyte depletion plays a major role in focal segmental glomerular sclerosis (FSGS). Because cells of the renin lineage (CoRL) serve as adult podocyte and parietal epithelial cell (PEC) progenitor candidates, we generated Ren1cCre/R26R-ConfettiTG/WT and Ren1dCre/R26R-ConfettiTG/WT mice to determine CoRL clonality during podocyte replacement. Four CoRL reporters (GFP, YFP, RFP, CFP) were restricted to cells in the juxtaglomerular compartment (JGC) at baseline. Following abrupt podocyte depletion in experimental FSGS, all four CoRL reporters were detected in a subset of glomeruli at day 28, where they co-expressed de novo four podocyte proteins (podocin, nephrin, WT-1 and p57) and two glomerular parietal epithelial cell (PEC) proteins (claudin-1, PAX8). To monitor the precise migration of a subset of CoRL over a 2w period following podocyte depletion, intravital multiphoton microscopy was used. Our findings demonstrate direct visual support for the migration of single CoRL from the JGC to the parietal Bowman's capsule, early proximal tubule, mesangium and glomerular tuft. In summary, these results suggest that following podocyte depletion, multi-clonal CoRL migrate to the glomerulus and replace podocyte and PECs in experimental FSGS.
[Mh] Termos MeSH primário: Glomerulosclerose Segmentar e Focal/metabolismo
Glomerulosclerose Segmentar e Focal/patologia
Glomérulos Renais/citologia
Glomérulos Renais/metabolismo
Podócitos/citologia
Podócitos/metabolismo
Renina/metabolismo
[Mh] Termos MeSH secundário: Células-Tronco Adultas/citologia
Células-Tronco Adultas/metabolismo
Animais
Linhagem da Célula
Movimento Celular
Claudina-1/metabolismo
Inibidor de Quinase Dependente de Ciclina p57/metabolismo
Modelos Animais de Doenças
Células Epiteliais/citologia
Células Epiteliais/metabolismo
Feminino
Peptídeos e Proteínas de Sinalização Intracelular/metabolismo
Microscopia Intravital
Proteínas de Membrana/metabolismo
Camundongos
Camundongos Transgênicos
Microscopia de Fluorescência por Excitação Multifotônica
Fator de Transcrição PAX8/metabolismo
Proteínas Repressoras/metabolismo
Processos Estocásticos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cdkn1c protein, mouse); 0 (Claudin-1); 0 (Cldn1 protein, mouse); 0 (Cyclin-Dependent Kinase Inhibitor p57); 0 (Intracellular Signaling Peptides and Proteins); 0 (Membrane Proteins); 0 (NPHS2 protein); 0 (PAX8 Transcription Factor); 0 (Pax8 protein, mouse); 0 (Repressor Proteins); 0 (WT1 protein, mouse); 0 (nephrin); EC 3.4.23.15 (Renin)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170821
[Lr] Data última revisão:
170821
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170323
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0173891


  9 / 567 MEDLINE  
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[PMID]:28301608
[Au] Autor:Franceschi S; Lessi F; Panebianco F; Tantillo E; La Ferla M; Menicagli M; Aretini P; Apollo A; Naccarato AG; Marchetti I; Mazzanti CM
[Ad] Endereço:FPS-Pisa Science Foundation, Pisa, Italy.
[Ti] Título:Loss of c-KIT expression in thyroid cancer cells.
[So] Source:PLoS One;12(3):e0173913, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Papillary thyroid carcinoma is the most frequent histologic type of thyroid tumor. Few studies investigated the role of c-KIT expression in thyroid tumors, suggesting a role for this receptor and its ligand in differentiation and growth control of thyroid epithelium and a receptor loss following malignant transformation. We investigated and correlated c-KIT expression levels and two known markers of thyrocytes differentiation, PAX8 and TTF-1, in malignant and benign cytological thyroid samples. Moreover, we performed functional studies on human papillary thyroid carcinoma cell line to associated c-KIT expression to thyrocytes differentiation and tumor proliferation. c-KIT and PAX8 expression resulted higher in benign samples compared to the malignant ones, and the expression levels of these two genes were significantly correlated to each other. We also observed that c-KIT overexpression led to an increase of PAX8 expression level together with a decrease of proliferation. Furthermore, c-KIT overexpressing cells showed a regression of typical morphological features of malignancy. Taken together these results suggest that c-KIT could be involved in the differentiation of thyroid cells and in tumor progression.
[Mh] Termos MeSH primário: Carcinoma/patologia
Proteínas Proto-Oncogênicas c-kit/metabolismo
Neoplasias da Glândula Tireoide/metabolismo
[Mh] Termos MeSH secundário: Carcinoma/metabolismo
Carcinoma Papilar
Diferenciação Celular
Linhagem Celular Tumoral
Proliferação Celular
Seres Humanos
Proteínas Nucleares/metabolismo
Fator de Transcrição PAX8/metabolismo
Proteínas Proto-Oncogênicas c-kit/genética
Neoplasias da Glândula Tireoide/patologia
Fator Nuclear 1 de Tireoide
Fatores de Transcrição/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NKX2-1 protein, human); 0 (Nuclear Proteins); 0 (PAX8 Transcription Factor); 0 (PAX8 protein, human); 0 (Thyroid Nuclear Factor 1); 0 (Transcription Factors); EC 2.7.10.1 (Proto-Oncogene Proteins c-kit)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170317
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0173913


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[PMID]:28052688
[Au] Autor:Wang X; Lopez-Beltran A; Osunkoya AO; Wang M; Zhang S; Davidson DD; Emerson RE; Williamson SR; Tan PH; Kaimakliotis HZ; Baldridge LA; MacLennan GT; Montironi R; Cheng L
[Ad] Endereço:Department of Pathology, Indiana University School of Medicine, Indianapolis, IN, USA.
[Ti] Título:TERT promoter mutation status in sarcomatoid urothelial carcinomas of the upper urinary tract.
[So] Source:Future Oncol;13(8):705-714, 2017 Apr.
[Is] ISSN:1744-8301
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:AIM: To determine TERT promoter mutation status as well as the expression of PAX8, GATA3, p63, p40, p53 and uroplakin III in 17 patients with the upper urinary tract sarcomatoid urothelial carcinoma. METHODS & RESULTS:  TERT C228T mutations were found in six of 17 cases (35%). p53 was expressed in 77% of these tumors. PAX8, GATA3, p40 and uroplakin III are less frequently expressed. Lymph node metastases were present in ten cases (59%). Eight patients (47%), including all three patients with TERT mutation, died of cancer within 2 years after surgery. CONCLUSION: Sarcomatoid carcinoma of the upper urinary tract is an aggressive tumor and the presence of TERT mutation may portend poor prognosis.
[Mh] Termos MeSH primário: Carcinoma/genética
Mutação
Regiões Promotoras Genéticas
Telomerase/genética
Neoplasias Uretrais/genética
Neoplasias Urológicas/genética
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Biomarcadores
Carcinoma/metabolismo
Carcinoma/mortalidade
Carcinoma/patologia
Feminino
Fator de Transcrição GATA3/metabolismo
Seres Humanos
Imuno-Histoquímica
Masculino
Meia-Idade
Estadiamento de Neoplasias
Fator de Transcrição PAX8/metabolismo
Prognóstico
Proteína Supressora de Tumor p53/metabolismo
Neoplasias Uretrais/metabolismo
Neoplasias Uretrais/mortalidade
Neoplasias Uretrais/patologia
Neoplasias Urológicas/metabolismo
Neoplasias Urológicas/mortalidade
Neoplasias Urológicas/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (GATA3 Transcription Factor); 0 (PAX8 Transcription Factor); 0 (PAX8 protein, human); 0 (Tumor Suppressor Protein p53); EC 2.7.7.49 (Telomerase)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170406
[Lr] Data última revisão:
170406
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170106
[St] Status:MEDLINE
[do] DOI:10.2217/fon-2016-0414



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