Browsing LIM/14 - Laboratório de Investigação em Patologia Hepática by Subject "gene"

Browsing LIM/14 - Laboratório de Investigação em Patologia Hepática by Subject "gene"

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  • MOREIRA, M. C.; PIAZZON, F. B.; CARVALHO, M. D. F.; QUAIO, C. R. D. C.; DUTRA, A. B.; CECCON, M. E.; DELLA-MANNA, T.; TANNURI, U.; LEE, J. H.; ZERBINI, M. C. N.; BELLANNE-CHANTELOT, C.; LONLAY, P.; BERTOLA, D. R.; KIM, C. A. (INFORMA HEALTHCARE, LONDON, ENGLAND, 2013)
  • SILVA, Thatiana Evilen da; NISHI, Mirian Yumie; COSTA, Elaine Maria Frade; MARTIN, Regina Matsunaga; CARVALHO, Filomena Marino; MENDONCA, Berenice Bilharinho; DOMENICE, Sorahia (SPRINGER, NEW YORK, USA, 2011)
    WT1 mutations have been described in a variety of syndromes, including Denys-Drash syndrome (DDS), which is characterized by predisposition to Wilms' tumor, genital abnormalities and development of early nephropathy. The ...
  • LONGUINI, Viviane C.; LOURENCO JR., Delmar M.; SEKIYA, Tomoko; MEIRELLES, Osorio; GONCALVES, Tatiana D.; COUTINHO, Flavia L.; FRANCISCO, Guilherme; OSAKI, Luciana H.; CHAMMAS, Roger; ALVES, Venancio A. F.; SIQUEIRA, Sheila A. C.; SCHLESINGER, David; NASLAVSKY, Michel S.; ZATZ, Mayana; DUARTE, Yeda A. O.; LEBRAO, Maria Lucia; GAMA, Patricia; LEE, Misu; MOLATORE, Sara; PEREIRA, Maria Adelaide A.; JALLAD, Raquel S.; BRONSTEIN, Marcello D.; CUNHA-NETO, Malebranche B.; LIBERMAN, Bernardo; FRAGOSO, Maria Candida B. V.; TOLEDO, Sergio P. A.; PELLEGATA, Natalia S.; TOLEDO, Rodrigo A. (BIOSCIENTIFICA LTD, BRISTOL, ENGLAND, 2014)
    Objective: To date, no evidence of robust genotype-phenotype correlation or disease modifiers for multiple endocrine neoplasia type 1 (MEN1) syndrome has been described, leaving the highly variable clinical presentation ...
  • ZAGO, Claudia Augusta; JACOB, Cristina Miuki Abe; DINIZ, Edna Maria de Albuquerque; LOVISOLO, Silvana Maria; ZERBINI, Maria Claudia Nogueira; DORNA, Mayra; WATANABE, Leticia; FERNANDES, Juliana Folloni; ROCHA, Vanderson; OLIVEIRA, Joao Bosco; CARNEIRO-SAMPAIO, Magda (ELSEVIER SCIENCE INC, NEW YORK, USA, 2014)
    B+NK+SCID (severe combined immunodeficiency) due to IL7R alpha deficiency represents approximately 10% of American SCID cases. To better understand the spectrum of autoimmune disorders associated with IL7R alpha deficiency, ...
  • STEIN, Maira Degiovani; FREGNANI, Jose Humberto T. G.; SCAPULATEMPO-NETO, Cristovam; LONGATTO-FILHO, Adhemar (BIOMED CENTRAL LTD, LONDON, ENGLAND, 2015)
    Background: Evaluate the performance of the Focalpoint system in identifying and classifying cervical cytology alterations from samples collected from patients treated with Radiotherapy (RT). Methods: The reproducibility ...
  • SOUSA, G. R. V. de; SOARES, I. C.; FARIA, A. M.; DOMINGUES, V. B.; WAKAMATSU, A.; LERARIO, A. M.; ALVES, V. A. F.; ZERBINI, M. C. N.; MENDONCA, B. B.; FRAGOSO, M. C. B. V.; LATRONICO, A. C.; ALMEIDA, M. Q. (GEORG THIEME VERLAG KG, STUTTGART, GERMANY, 2015)
    DAX1 transcription factor is a key determinant of adrenogonadal development, acting as a repressor of SF1 targets in steroidogenesis. It was recently demonstrated that DAX1 regulates pluripotency and differentiation in ...
  • GALATRO, Thais Fernanda de Almeida; UNO, Miyuki; OBA-SHINJO, Sueli Mieko; ALMEIDA, Antonio Nogueira; TEIXEIRA, Manoel J.; ROSEMBERG, Sergio; MARIE, Suely Kazue N. (PUBLIC LIBRARY SCIENCE, SAN FRANCISCO, USA, 2013)
    Inhibitor of DNA Binding 4 (ID4) is a member of the helix-loop-helix ID family of transcription factors, mostly present in the central nervous system during embryonic development, that has been associated with TP53 mutation ...
  • BROI, M. G. Da; ROCHA JUNIOR, C. V.; MEOLA, J.; MARTINS, W. P.; CARVALHO, F. M.; FERRIANI, R. A.; NAVARRO, P. A. (SOCIEDADE BRASILEIRA DE REPRODUCAO ASSISTIDA, Brasil, 2017)
    Objective: Alterations in endometrial receptivity may be involved in the etiopathogenesis of endometriosis-related infertility. The literature has suggested that patients with endometriosis present progestin resistance, ...
  • WAY, Gregory P.; SANCHEZ-VEGA, Francisco; LA, Konnor; ARMENIA, Joshua; CHATILA, Walid K.; LUNA, Augustin; SANDER, Chris; CHERNIACK, Andrew D.; MINA, Marco; CIRIELLO, Giovanni; SCHULTZ, Nikolaus; SANCHEZ, Yolanda; GREENE, Casey S. (CELL PRESS, CAMBRIDGE, USA, 2018)
    Precision oncology uses genomic evidence to match patients with treatment but often fails to identify all patients who may respond. The transcriptome of these ""hidden responders'' may reveal responsive molecular states. ...
  • OKADA, Livia Samara dos Reis Rodrigues; OLIVEIRA, Claudia P.; STEFANO, Jose Tadeu; NOGUEIRA, Monize Aydar; SILVA, Ismael Dale Cotrim Guerreiro da; CORDEIRO, Fernanda Bertucce; ALVES, Venancio Avancini Ferreira; TORRINHAS, Raquel Susana; CARRILHO, Flair Jose; PURI, Puneet; WAITZBERG, Dan L. (CHURCHILL LIVINGSTONE, EDINBURGH, SCOTLAND, 2018)
    Background & aims: Currently there is no FDA-approved therapy for nonalcoholic steatohepatitis (NASH). Increased n-6/n-3 polyunsaturated fatty acids (PUFA) ratio can induce endoplasmic reticulum (ER) stress and mitochondrial ...
  • TOLEDO, Sergio P. A.; LOURENCO JR., Delmar M.; SEKIYA, Tomoko; LUCON, Antonio M.; BAENA, Marcos E. S.; CASTRO, Claudio C.; BORTOLOTTO, Luiz A.; ZERBINI, Maria C. N.; SIQUEIRA, Sheila A. C.; TOLEDO, Rodrigo A.; DAHIA, Patricia L. M. (ENDOCRINE SOC, WASHINGTON, USA, 2015)
    Context: The phenotype of familial pheochromocytoma (PHEO) associated with germline TMEM127 mutations (TMEM127-related PHEO) has not been clearly defined. Objective: This study aimed to investigate the penetrance, full ...
  • FERREIRA, Ana F. B.; CARVALHO, Mary S.; RESENDE, Maria Bernadete D.; WAKAMATSU, Alda; REED, Umbertina Conti; MARIE, Suely Kazue Nagahashi (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2011)
    INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of ...
  • PINTO, Emilia Modolo; SIQUEIRA, Sheila A. C.; CUKIER, Priscilla; FRAGOSO, Maria C. B. V.; LIN, Chin Jia; MENDONCA, Berenice Bilharinho de (SPRINGER, NEW YORK, USA, 2011)
    Nelson's syndrome (NS) is characterized by the appearance and/or progression of ACTH-secreting pituitary macroadenomas in patients who had previously undergone bilateral adrenalectomy for the treatment of Cushing's disease. ...
  • HEATON, Joanne H.; WOOD, Michelle A.; KIM, Alex C.; LIMA, Lorena O.; BARLASKAR, Ferdous M.; ALMEIDA, Madson Q.; FRAGOSO, Maria C. B. V.; KUICK, Rork; LERARIO, Antonio M.; SIMON, Derek P.; SOARES, Ibere C.; STARNES, Elisabeth; THOMAS, Dafydd G.; LATRONICO, Ana C.; GIORDANO, Thomas J.; HAMMER, Gary D. (ELSEVIER SCIENCE INC, NEW YORK, USA, 2012)
    Dysregulation of the WNT and insulin-like growth factor 2 (IGF2) signaling pathways has been implicated in sporadic and syndromic forms of adrenocortical carcinoma (ACC). Abnormal beta-catenin staining and CTNNB1 mutations ...
  • RUESCHOFF, Josef; KERR, Keith M.; GROTE, Hans J.; MIDDEL, Peter; HEYDEBRECK, Anja von; ALVES, Venancio A.; BALDUS, Stephan E.; BUETTNER, Reinhard; CARVALHO, Lina; FINK, Ludger; JOCHUM, Wolfram; LO, Anthony W. I.; LOPEZ-RIOS, Fernando; MARX, Alexander; MOLINA, Thierry J.; OLSZEWSKI, Wlodzimierz T.; RIEKER, Ralf J.; VOLANTE, Marco; THUNNISSEN, Erik; WRBA, Fritz; CELIK, Ilhan; STOERKEL, Stephan (COLL AMER PATHOLOGISTS, NORTHFIELD, USA, 2013)
    Context.-The addition of cetuximab to first-line chemotherapy substantially prolonged survival in patients with advanced non-small cell lung cancerwhose tumors expressed high levels of epidermal growth factor receptor ...

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